Mutagenetix > Incidental Mutation

Incidental Mutation 'R0587:Madd'

55795

Institutional Source

Beutler Lab

Gene Symbol

Madd

Ensembl Gene

ENSMUSG00000040687

Gene Name

MAP-kinase activating death domain

Synonyms

Rab3 GEP, 9630059K23Rik

MMRRC Submission

038777-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0587 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90967705-91013404 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90977230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1402 (V1402A)

Ref Sequence

ENSEMBL: ENSMUSP00000107012 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000066473
AA Change: V1421A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000069350
Gene: ENSMUSG00000040687
AA Change: V1421A

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 damaging
Transcript: ENSMUST00000075269
AA Change: V1363A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000074746
Gene: ENSMUSG00000040687
AA Change: V1363A

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 damaging
Transcript: ENSMUST00000077941
AA Change: V1441A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000077094
Gene: ENSMUSG00000040687
AA Change: V1441A

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 damaging
Transcript: ENSMUST00000099723
AA Change: V1440A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097311
Gene: ENSMUSG00000040687
AA Change: V1440A

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 damaging
Transcript: ENSMUST00000099725
AA Change: V1421A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097313
Gene: ENSMUSG00000040687
AA Change: V1421A

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 damaging
Transcript: ENSMUST00000111369
AA Change: V1338A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107000
Gene: ENSMUSG00000040687
AA Change: V1338A

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 damaging
Transcript: ENSMUST00000111370
AA Change: V1421A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107001
Gene: ENSMUSG00000040687
AA Change: V1421A

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 damaging
Transcript: ENSMUST00000111371
AA Change: V1383A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107002
Gene: ENSMUSG00000040687
AA Change: V1383A

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 damaging
Transcript: ENSMUST00000111376
AA Change: V1399A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107007
Gene: ENSMUSG00000040687
AA Change: V1399A

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 damaging
Transcript: ENSMUST00000111375
AA Change: V1359A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107006
Gene: ENSMUSG00000040687
AA Change: V1359A

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 damaging
Transcript: ENSMUST00000111372
AA Change: V1382A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107003
Gene: ENSMUSG00000040687
AA Change: V1382A

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 damaging
Transcript: ENSMUST00000111373
AA Change: V1338A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107004
Gene: ENSMUSG00000040687
AA Change: V1338A

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 damaging
Transcript: ENSMUST00000111381
AA Change: V1402A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107012
Gene: ENSMUSG00000040687
AA Change: V1402A

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

noncoding transcript
Transcript: ENSMUST00000125321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150461

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125227

Meta Mutation Damage Score

0.3907

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.3%

Validation Efficiency

94% (34/36)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	T	C	17: 36,203,855 (GRCm39)	*212W	probably null	Het
Abca1	A	G	4: 53,107,035 (GRCm39)	Y231H	probably benign	Het
Abca5	T	G	11: 110,202,203 (GRCm39)	I401L	probably benign	Het
Ak2	A	G	4: 128,896,171 (GRCm39)	D112G	probably damaging	Het
Ankrd60	T	A	2: 173,410,644 (GRCm39)	D292V	possibly damaging	Het
Bank1	A	G	3: 135,919,798 (GRCm39)		probably benign	Het
Bod1l	G	A	5: 41,978,980 (GRCm39)	S778L	probably benign	Het
Cep76	C	A	18: 67,756,245 (GRCm39)	E529*	probably null	Het
Col24a1	T	C	3: 144,998,906 (GRCm39)	V13A	possibly damaging	Het
Ctsc	T	A	7: 87,946,437 (GRCm39)	H154Q	probably benign	Het
Ctsf	A	G	19: 4,905,766 (GRCm39)	E87G	probably benign	Het
Dmxl1	A	T	18: 50,068,374 (GRCm39)	T2716S	probably benign	Het
Espl1	A	G	15: 102,212,382 (GRCm39)		probably benign	Het
Fcsk	T	A	8: 111,609,957 (GRCm39)	Q1019L	probably damaging	Het
Hnrnpul1	T	A	7: 25,444,657 (GRCm39)	Y217F	possibly damaging	Het
Kmt2a	A	T	9: 44,758,831 (GRCm39)	M1039K	probably damaging	Het
Large1	T	C	8: 73,585,961 (GRCm39)	N382D	probably damaging	Het
Mlh3	C	T	12: 85,313,193 (GRCm39)	V998M	probably benign	Het
Myo1c	A	G	11: 75,548,616 (GRCm39)	Y71C	probably damaging	Het
Myt1l	G	A	12: 29,861,634 (GRCm39)	D139N	unknown	Het
Nes	C	A	3: 87,885,876 (GRCm39)	H1378Q	probably benign	Het
Or4c12	T	C	2: 89,773,736 (GRCm39)	H241R	probably damaging	Het
Otud6b	T	C	4: 14,815,661 (GRCm39)	E243G	probably benign	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 142,526,889 (GRCm39)		probably benign	Het
Pcm1	G	T	8: 41,739,088 (GRCm39)	R912L	probably damaging	Het
Piezo2	A	G	18: 63,155,497 (GRCm39)	I2449T	possibly damaging	Het
Slc12a5	G	A	2: 164,818,453 (GRCm39)	M217I	probably damaging	Het
Sorl1	C	A	9: 41,895,802 (GRCm39)	W1784C	probably damaging	Het
Spatc1l	A	G	10: 76,400,011 (GRCm39)	R178G	possibly damaging	Het
Strada	A	C	11: 106,061,790 (GRCm39)	Y154D	probably damaging	Het
Syt6	A	G	3: 103,532,887 (GRCm39)	T424A	probably damaging	Het
Tbx1	C	T	16: 18,402,243 (GRCm39)	A245T	possibly damaging	Het
Tmem143	T	C	7: 45,556,478 (GRCm39)	L161P	probably damaging	Het

Other mutations in Madd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Madd	APN	2	91,006,111 (GRCm39)	unclassified	probably benign
IGL00781:Madd	APN	2	90,977,273 (GRCm39)	missense	probably benign	0.00
IGL00844:Madd	APN	2	90,998,213 (GRCm39)	missense	probably damaging	1.00
IGL00942:Madd	APN	2	91,000,923 (GRCm39)	missense	probably damaging	1.00
IGL01100:Madd	APN	2	90,988,385 (GRCm39)	missense	probably damaging	1.00
IGL01116:Madd	APN	2	90,984,888 (GRCm39)	splice site	probably benign
IGL01694:Madd	APN	2	90,988,320 (GRCm39)	splice site	probably benign
IGL01982:Madd	APN	2	91,006,052 (GRCm39)	missense	probably damaging	1.00
IGL02346:Madd	APN	2	90,992,836 (GRCm39)	missense	probably damaging	0.97
IGL02354:Madd	APN	2	90,992,543 (GRCm39)	missense	probably benign	0.17
IGL02361:Madd	APN	2	90,992,543 (GRCm39)	missense	probably benign	0.17
IGL02481:Madd	APN	2	91,008,381 (GRCm39)	missense	probably damaging	1.00
IGL02483:Madd	APN	2	91,008,381 (GRCm39)	missense	probably damaging	1.00
IGL02948:Madd	APN	2	90,973,172 (GRCm39)	missense	probably benign
IGL03338:Madd	APN	2	90,992,507 (GRCm39)	missense	possibly damaging	0.48
BB005:Madd	UTSW	2	91,007,233 (GRCm39)	missense	probably damaging	1.00
BB015:Madd	UTSW	2	91,007,233 (GRCm39)	missense	probably damaging	1.00
R0026:Madd	UTSW	2	91,006,053 (GRCm39)	missense	possibly damaging	0.88
R0026:Madd	UTSW	2	91,006,053 (GRCm39)	missense	possibly damaging	0.88
R0027:Madd	UTSW	2	90,982,894 (GRCm39)	missense	probably damaging	0.97
R0085:Madd	UTSW	2	90,993,083 (GRCm39)	missense	probably benign	0.00
R0577:Madd	UTSW	2	90,968,740 (GRCm39)	missense	possibly damaging	0.88
R1112:Madd	UTSW	2	90,973,944 (GRCm39)	missense	probably damaging	1.00
R1722:Madd	UTSW	2	90,997,982 (GRCm39)	missense	probably benign
R1750:Madd	UTSW	2	90,998,236 (GRCm39)	missense	probably damaging	0.98
R2061:Madd	UTSW	2	90,991,831 (GRCm39)	intron	probably benign
R2112:Madd	UTSW	2	91,007,321 (GRCm39)	missense	possibly damaging	0.89
R2114:Madd	UTSW	2	90,994,367 (GRCm39)	missense	probably damaging	1.00
R2140:Madd	UTSW	2	90,982,854 (GRCm39)	missense	possibly damaging	0.80
R2276:Madd	UTSW	2	90,974,028 (GRCm39)	missense	possibly damaging	0.67
R2277:Madd	UTSW	2	90,974,028 (GRCm39)	missense	possibly damaging	0.67
R2279:Madd	UTSW	2	90,974,028 (GRCm39)	missense	possibly damaging	0.67
R2424:Madd	UTSW	2	90,996,967 (GRCm39)	missense	probably damaging	1.00
R2904:Madd	UTSW	2	91,006,017 (GRCm39)	missense	probably damaging	1.00
R3122:Madd	UTSW	2	91,006,554 (GRCm39)	missense	probably damaging	1.00
R3836:Madd	UTSW	2	90,984,988 (GRCm39)	critical splice donor site	probably null
R3979:Madd	UTSW	2	91,007,173 (GRCm39)	missense	possibly damaging	0.81
R4151:Madd	UTSW	2	90,973,428 (GRCm39)	missense	probably benign	0.11
R4233:Madd	UTSW	2	91,008,581 (GRCm39)	missense	probably benign	0.26
R4236:Madd	UTSW	2	90,997,373 (GRCm39)	missense	probably benign	0.00
R4299:Madd	UTSW	2	91,000,148 (GRCm39)	missense	probably damaging	1.00
R4334:Madd	UTSW	2	90,970,917 (GRCm39)	missense	probably benign	0.08
R4413:Madd	UTSW	2	90,997,932 (GRCm39)	missense	probably damaging	1.00
R4595:Madd	UTSW	2	90,998,009 (GRCm39)	missense	possibly damaging	0.80
R4694:Madd	UTSW	2	90,990,673 (GRCm39)	missense	probably damaging	0.99
R5410:Madd	UTSW	2	90,984,859 (GRCm39)	missense	probably damaging	1.00
R5490:Madd	UTSW	2	91,000,980 (GRCm39)	missense	possibly damaging	0.80
R5560:Madd	UTSW	2	90,993,890 (GRCm39)	missense	probably damaging	1.00
R5661:Madd	UTSW	2	90,984,778 (GRCm39)	critical splice donor site	probably null
R5710:Madd	UTSW	2	90,984,821 (GRCm39)	missense	probably damaging	1.00
R5730:Madd	UTSW	2	90,988,454 (GRCm39)	missense	probably damaging	1.00
R5759:Madd	UTSW	2	90,992,420 (GRCm39)	missense	possibly damaging	0.94
R5768:Madd	UTSW	2	90,998,174 (GRCm39)	missense	probably damaging	1.00
R5822:Madd	UTSW	2	90,982,878 (GRCm39)	missense	probably damaging	1.00
R6125:Madd	UTSW	2	90,982,797 (GRCm39)	critical splice donor site	probably null
R6151:Madd	UTSW	2	90,995,802 (GRCm39)	nonsense	probably null
R6229:Madd	UTSW	2	90,974,015 (GRCm39)	missense	probably damaging	0.96
R6230:Madd	UTSW	2	90,973,866 (GRCm39)	critical splice donor site	probably null
R6245:Madd	UTSW	2	91,008,449 (GRCm39)	missense	probably benign	0.27
R6323:Madd	UTSW	2	90,991,783 (GRCm39)	splice site	probably null
R6456:Madd	UTSW	2	91,008,536 (GRCm39)	missense	probably benign
R6473:Madd	UTSW	2	90,997,404 (GRCm39)	missense	probably benign
R6878:Madd	UTSW	2	91,000,202 (GRCm39)	missense	probably damaging	1.00
R7060:Madd	UTSW	2	91,007,452 (GRCm39)	missense	probably damaging	1.00
R7065:Madd	UTSW	2	90,985,402 (GRCm39)	missense	probably benign	0.26
R7073:Madd	UTSW	2	90,992,854 (GRCm39)	missense	probably damaging	1.00
R7124:Madd	UTSW	2	90,992,393 (GRCm39)	missense	possibly damaging	0.94
R7251:Madd	UTSW	2	90,992,521 (GRCm39)	missense	probably benign	0.01
R7510:Madd	UTSW	2	91,008,321 (GRCm39)	missense	possibly damaging	0.80
R7605:Madd	UTSW	2	91,000,055 (GRCm39)	missense	possibly damaging	0.90
R7911:Madd	UTSW	2	90,997,853 (GRCm39)	missense	probably null	0.01
R7928:Madd	UTSW	2	91,007,233 (GRCm39)	missense	probably damaging	1.00
R7952:Madd	UTSW	2	90,992,886 (GRCm39)	missense	probably damaging	1.00
R8039:Madd	UTSW	2	90,997,406 (GRCm39)	missense	probably benign	0.17
R8047:Madd	UTSW	2	91,009,546 (GRCm39)	missense	probably damaging	1.00
R8048:Madd	UTSW	2	90,984,793 (GRCm39)	missense	probably damaging	0.99
R8070:Madd	UTSW	2	90,988,359 (GRCm39)	nonsense	probably null
R8090:Madd	UTSW	2	90,985,968 (GRCm39)	missense	probably benign	0.01
R8335:Madd	UTSW	2	91,000,584 (GRCm39)	missense	probably damaging	1.00
R8459:Madd	UTSW	2	90,992,871 (GRCm39)	missense	probably benign
R8678:Madd	UTSW	2	91,006,610 (GRCm39)	missense	probably damaging	1.00
R8920:Madd	UTSW	2	91,007,168 (GRCm39)	missense	probably benign	0.04
R9003:Madd	UTSW	2	90,988,359 (GRCm39)	nonsense	probably null
R9102:Madd	UTSW	2	90,988,404 (GRCm39)	missense	probably benign	0.00
R9154:Madd	UTSW	2	90,998,162 (GRCm39)	missense	probably damaging	1.00
R9242:Madd	UTSW	2	90,973,949 (GRCm39)	missense	probably damaging	0.99
R9277:Madd	UTSW	2	91,006,055 (GRCm39)	missense	probably damaging	1.00
R9394:Madd	UTSW	2	91,000,199 (GRCm39)	missense	probably benign
R9490:Madd	UTSW	2	91,008,501 (GRCm39)	missense	probably benign
R9499:Madd	UTSW	2	91,000,434 (GRCm39)	missense	probably damaging	1.00
R9551:Madd	UTSW	2	91,000,434 (GRCm39)	missense	probably damaging	1.00
R9553:Madd	UTSW	2	91,008,800 (GRCm39)	missense	probably damaging	1.00
R9599:Madd	UTSW	2	91,006,026 (GRCm39)	missense	probably damaging	1.00
R9695:Madd	UTSW	2	90,992,929 (GRCm39)	missense	probably benign	0.17
R9729:Madd	UTSW	2	91,000,544 (GRCm39)	missense	possibly damaging	0.60
X0067:Madd	UTSW	2	90,982,818 (GRCm39)	missense	probably damaging	1.00
Z1176:Madd	UTSW	2	90,989,617 (GRCm39)	missense	probably damaging	0.96
Z1177:Madd	UTSW	2	90,973,176 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCAGGCACGCCATTTTATGGTATTC -3'
(R):5'- ATGACTCCAACAAGTCTTTGGTCCTTC -3'

Sequencing Primer
(F):5'- TTATGTCACACATCCACGACTG -3'
(R):5'- TTCTCCTCAGAATGGACGTG -3'

Posted On

2013-07-11