Mutagenetix > Incidental Mutations

Incidental Mutation 'R1750:Madd'

193360

Institutional Source

Beutler Lab

Gene Symbol

Madd

Ensembl Gene

ENSMUSG00000040687

Gene Name

MAP-kinase activating death domain

Synonyms

Rab3 GEP, 9630059K23Rik

MMRRC Submission

039782-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1750 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91137360-91183837 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91167891 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 239 (D239G)

Ref Sequence

ENSEMBL: ENSMUSP00000117657 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066420] [ENSMUST00000066473] [ENSMUST00000075269] [ENSMUST00000077941] [ENSMUST00000099723] [ENSMUST00000099725] [ENSMUST00000111369] [ENSMUST00000111370] [ENSMUST00000111371] [ENSMUST00000111372] [ENSMUST00000111373] [ENSMUST00000111375] [ENSMUST00000111376] [ENSMUST00000111381] [ENSMUST00000140600]

Predicted Effect

probably benign
Transcript: ENSMUST00000066420
AA Change: D628G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000067210
Gene: ENSMUSG00000040687
AA Change: D628G

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	908	918	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000066473
AA Change: D628G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000069350
Gene: ENSMUSG00000040687
AA Change: D628G

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	908	918	N/A	INTRINSIC
low complexity region	1334	1348	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000075269
AA Change: D628G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000074746
Gene: ENSMUSG00000040687
AA Change: D628G

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	719	N/A	INTRINSIC
low complexity region	762	770	N/A	INTRINSIC
low complexity region	797	820	N/A	INTRINSIC
low complexity region	889	899	N/A	INTRINSIC
low complexity region	1276	1290	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000077941
AA Change: D628G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000077094
Gene: ENSMUSG00000040687
AA Change: D628G

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	928	938	N/A	INTRINSIC
low complexity region	1354	1368	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099723
AA Change: D628G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000097311
Gene: ENSMUSG00000040687
AA Change: D628G

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	928	938	N/A	INTRINSIC
low complexity region	1189	1203	N/A	INTRINSIC
low complexity region	1353	1367	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099725
AA Change: D628G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000097313
Gene: ENSMUSG00000040687
AA Change: D628G

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	908	918	N/A	INTRINSIC
low complexity region	1334	1348	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111369
AA Change: D628G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000107000
Gene: ENSMUSG00000040687
AA Change: D628G

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	721	N/A	INTRINSIC
low complexity region	773	796	N/A	INTRINSIC
low complexity region	865	875	N/A	INTRINSIC
low complexity region	1108	1122	N/A	INTRINSIC
low complexity region	1251	1265	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111370
AA Change: D628G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000107001
Gene: ENSMUSG00000040687
AA Change: D628G

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	908	918	N/A	INTRINSIC
low complexity region	1334	1348	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111371
AA Change: D628G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107002
Gene: ENSMUSG00000040687
AA Change: D628G

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	719	N/A	INTRINSIC
low complexity region	762	770	N/A	INTRINSIC
low complexity region	797	820	N/A	INTRINSIC
low complexity region	909	919	N/A	INTRINSIC
low complexity region	1296	1310	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111372
AA Change: D628G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107003
Gene: ENSMUSG00000040687
AA Change: D628G

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	908	918	N/A	INTRINSIC
low complexity region	1295	1309	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111373
AA Change: D628G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000107004
Gene: ENSMUSG00000040687
AA Change: D628G

Domain	Start	End	E-Value	Type
uDENN	7	97	2.9e-29	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	8.7e-71	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	2.8e-16	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	721	N/A	INTRINSIC
low complexity region	773	796	N/A	INTRINSIC
low complexity region	865	875	N/A	INTRINSIC
low complexity region	1108	1122	N/A	INTRINSIC
low complexity region	1251	1265	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111375
AA Change: D628G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000107006
Gene: ENSMUSG00000040687
AA Change: D628G

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	721	N/A	INTRINSIC
low complexity region	773	796	N/A	INTRINSIC
low complexity region	885	895	N/A	INTRINSIC
low complexity region	1272	1286	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111376
AA Change: D628G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000107007
Gene: ENSMUSG00000040687
AA Change: D628G

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	721	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	908	918	N/A	INTRINSIC
low complexity region	1151	1162	N/A	INTRINSIC
low complexity region	1312	1326	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111381
AA Change: D628G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107012
Gene: ENSMUSG00000040687
AA Change: D628G

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	928	938	N/A	INTRINSIC
low complexity region	1315	1329	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000140600
AA Change: D239G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117657
Gene: ENSMUSG00000040687
AA Change: D239G

Domain	Start	End	E-Value	Type
Blast:DENN	1	28	7e-10	BLAST
low complexity region	39	55	N/A	INTRINSIC
dDENN	111	165	9.37e-1	SMART
low complexity region	230	250	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130395

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150461

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 91.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins. The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death domain of TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die shortly after birth due to respiratory failure, are hyporesponsive to tactile stimuli, and exhibit defects in neurotransmitter release with impaired synaptic vesicle trafficking and depletion of synaptic vesicles at the neuromuscular junction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	G	T	7: 131,146,130	N44K	probably benign	Het
Acd	C	A	8: 105,698,892	A270S	possibly damaging	Het
Acnat1	G	A	4: 49,451,042	T23I	probably benign	Het
Adam26a	T	G	8: 43,570,189	E88A	possibly damaging	Het
Adgrb1	G	A	15: 74,541,827	V589M	probably benign	Het
Agbl2	T	A	2: 90,816,376		probably benign	Het
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Amh	AGCGCCTTGG	AG	10: 80,805,585		probably null	Het
Asap2	T	C	12: 21,203,998	L170P	probably damaging	Het
Btg2	T	C	1: 134,079,031	D8G	probably benign	Het
C530008M17Rik	A	G	5: 76,857,675	I628V	unknown	Het
Cacna1g	A	T	11: 94,443,292	V841E	probably damaging	Het
Cacna2d1	C	T	5: 16,264,288	P230L	probably benign	Het
Cacna2d2	A	T	9: 107,524,644	D766V	probably damaging	Het
Carns1	A	G	19: 4,173,157	W23R	possibly damaging	Het
Cdk11b	T	A	4: 155,628,680		probably null	Het
Chrna3	T	C	9: 55,016,057	S156G	probably damaging	Het
Cmya5	A	T	13: 93,095,663	N972K	probably benign	Het
Cpne7	C	A	8: 123,134,524	P541T	probably damaging	Het
Csmd1	A	T	8: 15,917,303	L3187I	probably damaging	Het
Dbt	A	G	3: 116,546,294	I404V	probably benign	Het
Dgki	A	T	6: 36,916,434	I819K	probably damaging	Het
Dip2b	T	A	15: 100,178,466	S782T	probably benign	Het
Dlc1	A	T	8: 36,858,090		probably null	Het
Dnajc13	A	T	9: 104,221,477	V459E	probably damaging	Het
Enam	A	G	5: 88,503,227	E790G	probably damaging	Het
Epb41l4a	G	C	18: 33,828,208	Y424*	probably null	Het
Extl1	A	G	4: 134,362,688	S370P	probably benign	Het
Fan1	T	C	7: 64,373,013	Y164C	probably benign	Het
Fbxw15	G	A	9: 109,558,246	S227F	probably damaging	Het
Fbxw25	A	T	9: 109,650,073	I370N	probably benign	Het
Fcgbp	T	A	7: 28,093,443	Y957*	probably null	Het
Gkap1	C	A	13: 58,237,043	E77*	probably null	Het
Gkn1	A	T	6: 87,349,123	N28K	unknown	Het
Gls2	A	G	10: 128,201,325	E245G	probably damaging	Het
Glyat	G	A	19: 12,646,315	V32I	probably benign	Het
Gm2431	A	T	7: 142,258,025	C47*	probably null	Het
Gm5431	T	C	11: 48,894,831	D239G	probably benign	Het
Gm9573	T	A	17: 35,621,048		probably benign	Het
Inpp5d	T	C	1: 87,699,081	F540L	probably damaging	Het
Kcna1	A	C	6: 126,642,808	I183S	probably benign	Het
Kpna2	G	T	11: 106,991,445	L212I	probably damaging	Het
Krt36	C	G	11: 100,104,058	R229S	probably benign	Het
Krt78	G	A	15: 101,946,377	H1000Y	probably benign	Het
Krt90	A	G	15: 101,553,365		probably benign	Het
Ldlrad4	C	A	18: 68,106,687	F59L	probably benign	Het
Lrrc3b	T	C	14: 15,358,601	N2D	probably benign	Het
Mapk8ip3	C	T	17: 24,914,459	G332S	probably null	Het
Mastl	A	T	2: 23,146,081	L141*	probably null	Het
Mdh1b	T	C	1: 63,719,522	N304D	probably benign	Het
Mfsd4b3	G	T	10: 39,947,933	N110K	probably benign	Het
Mtus2	T	C	5: 148,277,633	S1035P	probably damaging	Het
Myh11	T	A	16: 14,200,758	D1908V	probably damaging	Het
Myh11	T	C	16: 14,215,790	E1080G	probably damaging	Het
Mypn	A	C	10: 63,136,197	M688R	probably benign	Het
Nat8l	G	T	5: 34,000,786	C180F	probably damaging	Het
Nip7	T	A	8: 107,057,386	L86Q	probably damaging	Het
Nisch	C	T	14: 31,174,882		probably benign	Het
Nop2	A	G	6: 125,137,638	I283V	probably benign	Het
Oas1h	T	A	5: 120,871,777		probably null	Het
Olfr1118	T	C	2: 87,308,852	V41A	probably benign	Het
Olfr1141	T	A	2: 87,753,186	D269V	probably damaging	Het
Olfr117	A	C	17: 37,659,673	I220S	probably damaging	Het
Olfr1188	C	A	2: 88,560,058	D185E	possibly damaging	Het
Olfr1199	T	C	2: 88,755,773	R301G	probably benign	Het
Olfr504	A	T	7: 108,565,357	L146*	probably null	Het
Olfr901	T	A	9: 38,430,690	M136K	probably damaging	Het
P4hb	A	G	11: 120,562,720	V373A	probably damaging	Het
Pappa2	C	A	1: 158,763,150	E1645*	probably null	Het
Pcdh10	G	T	3: 45,381,881	E877*	probably null	Het
Pcdhb17	C	T	18: 37,485,711	R185C	probably damaging	Het
Pcdhb17	A	G	18: 37,487,017	H620R	possibly damaging	Het
Pdcl3	T	A	1: 38,995,865	F168I	probably damaging	Het
Pde4a	T	A	9: 21,203,232	I365N	probably damaging	Het
Pdzd2	A	G	15: 12,385,864	V940A	probably damaging	Het
Picalm	T	A	7: 90,191,182	S399T	possibly damaging	Het
Pigk	A	T	3: 152,744,464	I249F	probably damaging	Het
Plxnb1	C	A	9: 109,111,768	H1570Q	probably benign	Het
Plxnc1	A	G	10: 94,799,497	Y1321H	probably damaging	Het
Ppm1g	G	A	5: 31,206,216	S114F	probably damaging	Het
Rassf4	A	G	6: 116,640,267	M259T	probably damaging	Het
Rbm47	T	C	5: 66,019,310	K557E	possibly damaging	Het
Rhobtb1	A	G	10: 69,279,406	K21R	probably damaging	Het
Selenoi	T	C	5: 30,257,773	F212S	probably benign	Het
Shc3	T	G	13: 51,449,292	Y259S	probably damaging	Het
Slc11a2	T	C	15: 100,401,287	N134S	probably damaging	Het
Slc9a7	A	T	X: 20,162,478	M368K	probably damaging	Het
Slx4ip	T	A	2: 137,046,749	C117S	probably damaging	Het
Spata31d1d	T	A	13: 59,728,695	Q342L	probably benign	Het
Spink13	T	A	18: 62,607,749	Y93F	probably damaging	Het
St6galnac5	A	T	3: 152,846,321	I203N	possibly damaging	Het
Syne2	T	A	12: 76,052,805	C5335S	probably damaging	Het
Tagap	T	A	17: 7,929,910	D173E	probably benign	Het
Tekt3	A	C	11: 63,070,041	Y12S	probably damaging	Het
Tmem81	T	A	1: 132,507,583	N42K	probably damaging	Het
Tnc	A	G	4: 63,972,735	W1728R	probably damaging	Het
Ttc30a1	C	T	2: 75,980,255	V495I	probably benign	Het
Ttc33	C	T	15: 5,212,098	R135*	probably null	Het
Ttc37	T	A	13: 76,140,601	L951Q	possibly damaging	Het
Unc5c	A	G	3: 141,827,517	D842G	possibly damaging	Het
Usp43	A	T	11: 67,879,953	H618Q	probably damaging	Het
Vmn2r50	T	G	7: 10,052,988	N64T	possibly damaging	Het
Vmn2r53	T	C	7: 12,581,705	Y729C	probably damaging	Het
Vmn2r59	T	A	7: 42,045,827	H387L	possibly damaging	Het
Vstm2a	G	T	11: 16,263,166	V184F	possibly damaging	Het
Wdr53	T	G	16: 32,252,117	N93K	probably damaging	Het
Wdr95	A	G	5: 149,581,886		probably null	Het
Xpot	A	T	10: 121,603,027		probably null	Het
Xrcc5	C	T	1: 72,325,087	Q233*	probably null	Het
Zbtb18	T	A	1: 177,447,511	C137S	possibly damaging	Het
Zfp58	C	A	13: 67,491,479	G298*	probably null	Het
Zfp963	A	G	8: 69,743,450	S118P	possibly damaging	Het
Zmynd15	A	T	11: 70,462,567	Q336L	probably benign	Het

Other mutations in Madd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Madd	APN	2	91175766	unclassified	probably benign
IGL00781:Madd	APN	2	91146928	missense	probably benign	0.00
IGL00844:Madd	APN	2	91167868	missense	probably damaging	1.00
IGL00942:Madd	APN	2	91170578	missense	probably damaging	1.00
IGL01100:Madd	APN	2	91158040	missense	probably damaging	1.00
IGL01116:Madd	APN	2	91154543	splice site	probably benign
IGL01694:Madd	APN	2	91157975	splice site	probably benign
IGL01982:Madd	APN	2	91175707	missense	probably damaging	1.00
IGL02346:Madd	APN	2	91162491	missense	probably damaging	0.97
IGL02354:Madd	APN	2	91162198	missense	probably benign	0.17
IGL02361:Madd	APN	2	91162198	missense	probably benign	0.17
IGL02481:Madd	APN	2	91178036	missense	probably damaging	1.00
IGL02483:Madd	APN	2	91178036	missense	probably damaging	1.00
IGL02948:Madd	APN	2	91142827	missense	probably benign
IGL03338:Madd	APN	2	91162162	missense	possibly damaging	0.48
BB005:Madd	UTSW	2	91176888	missense	probably damaging	1.00
BB015:Madd	UTSW	2	91176888	missense	probably damaging	1.00
R0026:Madd	UTSW	2	91175708	missense	possibly damaging	0.88
R0026:Madd	UTSW	2	91175708	missense	possibly damaging	0.88
R0027:Madd	UTSW	2	91152549	missense	probably damaging	0.97
R0085:Madd	UTSW	2	91162738	missense	probably benign	0.00
R0577:Madd	UTSW	2	91138395	missense	possibly damaging	0.88
R0587:Madd	UTSW	2	91146885	missense	probably damaging	1.00
R1112:Madd	UTSW	2	91143599	missense	probably damaging	1.00
R1722:Madd	UTSW	2	91167637	missense	probably benign
R2061:Madd	UTSW	2	91161486	intron	probably benign
R2112:Madd	UTSW	2	91176976	missense	possibly damaging	0.89
R2114:Madd	UTSW	2	91164022	missense	probably damaging	1.00
R2140:Madd	UTSW	2	91152509	missense	possibly damaging	0.80
R2276:Madd	UTSW	2	91143683	missense	possibly damaging	0.67
R2277:Madd	UTSW	2	91143683	missense	possibly damaging	0.67
R2279:Madd	UTSW	2	91143683	missense	possibly damaging	0.67
R2424:Madd	UTSW	2	91166622	missense	probably damaging	1.00
R2904:Madd	UTSW	2	91175672	missense	probably damaging	1.00
R3122:Madd	UTSW	2	91176209	missense	probably damaging	1.00
R3836:Madd	UTSW	2	91154643	critical splice donor site	probably null
R3979:Madd	UTSW	2	91176828	missense	possibly damaging	0.81
R4151:Madd	UTSW	2	91143083	missense	probably benign	0.11
R4233:Madd	UTSW	2	91178236	missense	probably benign	0.26
R4236:Madd	UTSW	2	91167028	missense	probably benign	0.00
R4299:Madd	UTSW	2	91169803	missense	probably damaging	1.00
R4334:Madd	UTSW	2	91140572	missense	probably benign	0.08
R4413:Madd	UTSW	2	91167587	missense	probably damaging	1.00
R4595:Madd	UTSW	2	91167664	missense	possibly damaging	0.80
R4694:Madd	UTSW	2	91160328	missense	probably damaging	0.99
R5410:Madd	UTSW	2	91154514	missense	probably damaging	1.00
R5490:Madd	UTSW	2	91170635	missense	possibly damaging	0.80
R5560:Madd	UTSW	2	91163545	missense	probably damaging	1.00
R5661:Madd	UTSW	2	91154433	critical splice donor site	probably null
R5710:Madd	UTSW	2	91154476	missense	probably damaging	1.00
R5730:Madd	UTSW	2	91158109	missense	probably damaging	1.00
R5759:Madd	UTSW	2	91162075	missense	possibly damaging	0.94
R5768:Madd	UTSW	2	91167829	missense	probably damaging	1.00
R5822:Madd	UTSW	2	91152533	missense	probably damaging	1.00
R6125:Madd	UTSW	2	91152452	critical splice donor site	probably null
R6151:Madd	UTSW	2	91165457	nonsense	probably null
R6229:Madd	UTSW	2	91143670	missense	probably damaging	0.96
R6230:Madd	UTSW	2	91143521	critical splice donor site	probably null
R6245:Madd	UTSW	2	91178104	missense	probably benign	0.27
R6323:Madd	UTSW	2	91161438	splice site	probably null
R6456:Madd	UTSW	2	91178191	missense	probably benign
R6473:Madd	UTSW	2	91167059	missense	probably benign
R6878:Madd	UTSW	2	91169857	missense	probably damaging	1.00
R7060:Madd	UTSW	2	91177107	missense	probably damaging	1.00
R7065:Madd	UTSW	2	91155057	missense	probably benign	0.26
R7073:Madd	UTSW	2	91162509	missense	probably damaging	1.00
R7124:Madd	UTSW	2	91162048	missense	possibly damaging	0.94
R7251:Madd	UTSW	2	91162176	missense	probably benign	0.01
R7510:Madd	UTSW	2	91177976	missense	possibly damaging	0.80
R7605:Madd	UTSW	2	91169710	missense	possibly damaging	0.90
R7911:Madd	UTSW	2	91167508	missense	probably null	0.01
R7928:Madd	UTSW	2	91176888	missense	probably damaging	1.00
R7952:Madd	UTSW	2	91162541	missense	probably damaging	1.00
R8039:Madd	UTSW	2	91167061	missense	probably benign	0.17
R8047:Madd	UTSW	2	91179201	missense	probably damaging	1.00
R8048:Madd	UTSW	2	91154448	missense	probably damaging	0.99
R8070:Madd	UTSW	2	91158014	nonsense	probably null
R8090:Madd	UTSW	2	91155623	missense	probably benign	0.01
R8335:Madd	UTSW	2	91170239	missense	probably damaging	1.00
R8459:Madd	UTSW	2	91162526	missense	probably benign
X0067:Madd	UTSW	2	91152473	missense	probably damaging	1.00
Z1176:Madd	UTSW	2	91159272	missense	probably damaging	0.96
Z1177:Madd	UTSW	2	91142831	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATCTCCCAGGGCTGCATGG -3'
(R):5'- GAACTGATTGTGGATTCCTCTGTCTTCC -3'

Sequencing Primer
(F):5'- GCTGCATGGGTCAGAGG -3'
(R):5'- tctactcctattgcctctactttc -3'

Posted On

2014-05-23