Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01982:Madd'

182731

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Madd

Ensembl Gene

ENSMUSG00000040687

Gene Name

MAP-kinase activating death domain

Synonyms

Rab3 GEP, 9630059K23Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01982

Quality Score

Status

Chromosome

Chromosomal Location

91137360-91183837 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91175707 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 381 (F381Y)

Ref Sequence

ENSEMBL: ENSMUSP00000107006 (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

possibly damaging
Transcript: ENSMUST00000066420
AA Change: F381Y

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000067210
Gene: ENSMUSG00000040687
AA Change: F381Y

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

possibly damaging
Transcript: ENSMUST00000066473
AA Change: F381Y

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000069350
Gene: ENSMUSG00000040687
AA Change: F381Y

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

possibly damaging
Transcript: ENSMUST00000075269
AA Change: F381Y

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000074746
Gene: ENSMUSG00000040687
AA Change: F381Y

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

possibly damaging
Transcript: ENSMUST00000077941
AA Change: F381Y

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000077094
Gene: ENSMUSG00000040687
AA Change: F381Y

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

possibly damaging
Transcript: ENSMUST00000099723
AA Change: F381Y

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097311
Gene: ENSMUSG00000040687
AA Change: F381Y

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

possibly damaging
Transcript: ENSMUST00000099725
AA Change: F381Y

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097313
Gene: ENSMUSG00000040687
AA Change: F381Y

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: F381Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107000
Gene: ENSMUSG00000040687
AA Change: F381Y

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: F381Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107001
Gene: ENSMUSG00000040687
AA Change: F381Y

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

possibly damaging
Transcript: ENSMUST00000111371
AA Change: F381Y

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107002
Gene: ENSMUSG00000040687
AA Change: F381Y

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

possibly damaging
Transcript: ENSMUST00000111372
AA Change: F381Y

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107003
Gene: ENSMUSG00000040687
AA Change: F381Y

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

possibly damaging
Transcript: ENSMUST00000111373
AA Change: F381Y

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107004
Gene: ENSMUSG00000040687
AA Change: F381Y

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: ENSMUST00000111375
AA Change: F381Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107006
Gene: ENSMUSG00000040687
AA Change: F381Y

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

possibly damaging
Transcript: ENSMUST00000111376
AA Change: F381Y

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107007
Gene: ENSMUSG00000040687
AA Change: F381Y

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

possibly damaging
Transcript: ENSMUST00000111381
AA Change: F381Y

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107012
Gene: ENSMUSG00000040687
AA Change: F381Y

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: ENSMUST00000125227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130395

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135715

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140600
AA Change: F8Y

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117657
Gene: ENSMUSG00000040687
AA Change: F8Y

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: ENSMUST00000150461

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150517

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154028

Coding Region Coverage

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	T	G	17: 33,066,315	E504D	probably benign	Het
Abca12	A	C	1: 71,346,698	S254A	probably benign	Het
Abca7	T	G	10: 80,002,641	L583R	probably damaging	Het
Acp1	A	T	12: 30,911,492	L14H	possibly damaging	Het
Adar	A	G	3: 89,738,090	I3V	probably benign	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Aldh1l1	A	G	6: 90,559,863	I103V	probably benign	Het
Asic3	C	A	5: 24,417,721	T523N	probably benign	Het
Aspm	T	C	1: 139,491,588	V1732A	probably benign	Het
Atad3a	C	T	4: 155,753,927	R211Q	possibly damaging	Het
Bahcc1	A	G	11: 120,287,473	Y2286C	probably damaging	Het
BC034090	T	C	1: 155,223,332	E569G	probably damaging	Het
Bpifb3	A	G	2: 153,925,601	N237S	probably benign	Het
Bysl	C	A	17: 47,611,071		probably null	Het
C2cd6	T	C	1: 59,067,773		probably benign	Het
Ccdc141	A	G	2: 77,030,659	F925L	probably damaging	Het
Cdca2	A	T	14: 67,677,719	V697E	probably damaging	Het
Cers1	A	G	8: 70,323,431	D324G	probably damaging	Het
Ctsq	C	T	13: 61,039,521	C11Y	probably benign	Het
Ctsq	T	A	13: 61,038,918	I91F	probably benign	Het
Cyp11b1	T	C	15: 74,839,403	N142S	possibly damaging	Het
Cyp3a59	G	T	5: 146,104,735	S363I	probably benign	Het
Eps15l1	A	T	8: 72,379,075	D567E	probably benign	Het
Esf1	G	A	2: 140,164,528	A233V	probably benign	Het
Fras1	A	T	5: 96,739,248	I2630F	possibly damaging	Het
Fyb	A	T	15: 6,580,177	E77V	probably null	Het
Gjb6	C	A	14: 57,124,573	W77L	probably damaging	Het
Gm21983	A	G	7: 27,180,278	V88A	possibly damaging	Het
Gm8247	A	G	14: 44,585,631	T52A	probably damaging	Het
Gpr108	T	C	17: 57,237,877	K329E	probably damaging	Het
Gpr141	T	A	13: 19,751,738	H289L	probably benign	Het
Ilvbl	T	C	10: 78,579,022	Y240H	probably damaging	Het
Kntc1	G	A	5: 123,809,096	A1868T	probably benign	Het
Lrmda	A	C	14: 22,584,482	N112T	probably damaging	Het
Ly75	T	C	2: 60,311,764	Y1334C	probably damaging	Het
Macc1	C	A	12: 119,445,634	P46T	probably benign	Het
Map3k20	C	T	2: 72,298,333	Q38*	probably null	Het
Mcm4	A	T	16: 15,630,420	D424E	possibly damaging	Het
Micu1	T	A	10: 59,863,278	M463K	possibly damaging	Het
Mkrn2os	A	G	6: 115,585,531	L157P	probably damaging	Het
Nectin2	A	G	7: 19,717,562	S516P	probably damaging	Het
Nme5	T	A	18: 34,569,875	D120V	probably damaging	Het
Npy4r	T	C	14: 34,147,325	N2S	possibly damaging	Het
Nup107	A	T	10: 117,759,340		probably benign	Het
Omd	T	C	13: 49,589,497	Y8H	possibly damaging	Het
Ppp1r15a	T	C	7: 45,524,379		probably benign	Het
Ppp2ca	T	C	11: 52,099,064	F6L	probably benign	Het
Rab1a	T	C	11: 20,224,717	S97P	probably benign	Het
Ranbp3l	G	A	15: 9,058,746	G359R	probably damaging	Het
Rnf213	A	T	11: 119,443,268	H3101L	probably damaging	Het
Slc27a4	T	C	2: 29,812,615	F509S	probably damaging	Het
Slco4a1	T	C	2: 180,473,153	V623A	probably benign	Het
Spg20	T	A	3: 55,128,490		probably null	Het
Sptan1	A	G	2: 30,019,968	D1780G	probably damaging	Het
Tgm7	G	T	2: 121,093,625	Y605*	probably null	Het
Tmem106b	T	C	6: 13,071,969		probably benign	Het
Trak2	G	A	1: 58,926,655	A120V	possibly damaging	Het
Trappc8	G	A	18: 20,874,712		probably benign	Het
Trim66	T	C	7: 109,458,763	T973A	probably benign	Het
Ttyh3	C	A	5: 140,636,074		probably benign	Het
Ugt2b37	A	C	5: 87,242,432	I385S	probably damaging	Het
Usf3	A	G	16: 44,218,817	N1220S	possibly damaging	Het
Utrn	A	T	10: 12,748,029	I155N	probably damaging	Het
Vps13b	C	T	15: 35,438,904	Q377*	probably null	Het
Washc2	A	T	6: 116,236,189	E570D	probably benign	Het
Wscd1	T	C	11: 71,766,873	V168A	possibly damaging	Het
Zfp386	T	A	12: 116,059,168	C169S	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
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
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
R1750:Madd	UTSW	2	91167891	missense	probably damaging	0.98
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	utr 3 prime	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
X0067:Madd	UTSW	2	91152473	missense	probably damaging	1.00

Posted On

2014-05-07