Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02015:D430041D05Rik'

183710

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

D430041D05Rik

Ensembl Gene

ENSMUSG00000068373

Gene Name

RIKEN cDNA D430041D05 gene

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.380) question?

Stock #

IGL02015

Quality Score

Status

Chromosome

Chromosomal Location

104143073-104411013 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104230404 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1382 (Y1382H)

Ref Sequence

ENSEMBL: ENSMUSP00000155485 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089726] [ENSMUST00000136156] [ENSMUST00000141159] [ENSMUST00000230671]

Predicted Effect

probably damaging
Transcript: ENSMUST00000089726
AA Change: Y698H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106756
Gene: ENSMUSG00000068373
AA Change: Y698H

Domain	Start	End	E-Value	Type
low complexity region	55	70	N/A	INTRINSIC
low complexity region	206	215	N/A	INTRINSIC
low complexity region	218	230	N/A	INTRINSIC
low complexity region	234	253	N/A	INTRINSIC
Pfam:DUF3827	498	1134	2.4e-282	PFAM
low complexity region	1196	1217	N/A	INTRINSIC
low complexity region	1331	1351	N/A	INTRINSIC
low complexity region	1360	1372	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000136156
AA Change: Y698H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000141159
AA Change: Y583H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117041
Gene: ENSMUSG00000068373
AA Change: Y583H

Domain	Start	End	E-Value	Type
low complexity region	55	70	N/A	INTRINSIC
low complexity region	91	100	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC
low complexity region	119	138	N/A	INTRINSIC
Pfam:DUF3827	383	1020	8.2e-280	PFAM
low complexity region	1082	1103	N/A	INTRINSIC
low complexity region	1217	1237	N/A	INTRINSIC
low complexity region	1246	1258	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156278

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158981

Predicted Effect

probably damaging
Transcript: ENSMUST00000230671
AA Change: Y1382H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcl9l	C	A	9: 44,508,801		probably null	Het
C1qtnf12	A	G	4: 155,962,744		probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Fut1	A	T	7: 45,618,975	M118L	probably damaging	Het
Fzd5	A	T	1: 64,736,342	C87S	probably damaging	Het
Gmcl1	A	G	6: 86,707,457	V361A	possibly damaging	Het
Inpp4a	T	G	1: 37,389,712	F700V	probably damaging	Het
Klk1b21	A	T	7: 44,104,358	Q22L	probably benign	Het
Lrp2	T	A	2: 69,527,578	Q369L	probably benign	Het
Mtor	C	T	4: 148,540,113	Q2117*	probably null	Het
Naip2	A	T	13: 100,161,607	S640R	possibly damaging	Het
Nt5e	T	C	9: 88,367,237	I408T	probably damaging	Het
Olfr509	T	A	7: 108,646,013	N188Y	probably damaging	Het
Olfr572	G	A	7: 102,928,192	R188H	probably benign	Het
Olfr924	T	C	9: 38,848,794	S227P	probably damaging	Het
Plxna1	A	G	6: 89,342,451	L590P	probably damaging	Het
Ppp1r35	T	C	5: 137,780,031		probably benign	Het
Prmt2	G	A	10: 76,226,255	Q39*	probably null	Het
Ptprg	A	T	14: 12,237,782	N1413I	possibly damaging	Het
Ranbp10	C	A	8: 105,779,990	G233C	probably damaging	Het
Rapgef2	A	G	3: 79,092,064		probably benign	Het
Rilpl2	T	C	5: 124,469,813	T115A	probably benign	Het
Scaf4	T	C	16: 90,258,846	S108G	unknown	Het
Scn10a	C	T	9: 119,664,951	V430M	probably benign	Het
Sf3b3	T	C	8: 110,816,290	E845G	possibly damaging	Het
Skint2	C	T	4: 112,624,128	R63*	probably null	Het
Slc35b4	A	T	6: 34,170,548	V35D	probably damaging	Het
Slc6a3	A	T	13: 73,544,714	Y151F	possibly damaging	Het
Susd1	G	A	4: 59,315,745	T689I	possibly damaging	Het
Tbx21	T	C	11: 97,098,914	D484G	probably benign	Het
Tln2	C	T	9: 67,361,439		probably benign	Het
Traf3	A	G	12: 111,252,740	N242S	probably benign	Het
Xiap	T	A	X: 42,096,610		probably benign	Het
Zcchc6	A	G	13: 59,789,258	Y790H	probably damaging	Het

Other mutations in D430041D05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:D430041D05Rik	APN	2	104201303	missense	probably damaging	1.00
IGL01114:D430041D05Rik	APN	2	104258166	nonsense	probably null
IGL01669:D430041D05Rik	APN	2	104254961	missense	probably damaging	1.00
IGL02037:D430041D05Rik	APN	2	104208214	splice site	probably benign
IGL02268:D430041D05Rik	APN	2	104241155	missense	possibly damaging	0.80
IGL02294:D430041D05Rik	APN	2	104255006	missense	probably benign	0.42
IGL02457:D430041D05Rik	APN	2	104249345	missense	probably damaging	0.99
IGL02601:D430041D05Rik	APN	2	104230286	missense	probably damaging	0.99
IGL02647:D430041D05Rik	APN	2	104248266	missense	probably damaging	1.00
IGL02679:D430041D05Rik	APN	2	104230305	missense	possibly damaging	0.80
IGL02926:D430041D05Rik	APN	2	104214259	missense	probably damaging	1.00
IGL03171:D430041D05Rik	APN	2	104241163	missense	possibly damaging	0.95
IGL03178:D430041D05Rik	APN	2	104221211	missense	probably damaging	1.00
IGL03371:D430041D05Rik	APN	2	104248374	missense	probably damaging	1.00
R0027:D430041D05Rik	UTSW	2	104255044	missense	probably benign
R0064:D430041D05Rik	UTSW	2	104249157	missense	probably damaging	1.00
R0135:D430041D05Rik	UTSW	2	104255034	missense	possibly damaging	0.60
R0227:D430041D05Rik	UTSW	2	104205200	missense	possibly damaging	0.85
R0265:D430041D05Rik	UTSW	2	104167950	missense	probably damaging	1.00
R0268:D430041D05Rik	UTSW	2	104167950	missense	probably damaging	1.00
R0282:D430041D05Rik	UTSW	2	104201244	missense	probably damaging	1.00
R0366:D430041D05Rik	UTSW	2	104255340	missense	probably damaging	0.99
R0402:D430041D05Rik	UTSW	2	104168164	missense	probably damaging	0.99
R0436:D430041D05Rik	UTSW	2	104167950	missense	probably damaging	1.00
R0441:D430041D05Rik	UTSW	2	104167947	missense	probably damaging	1.00
R0540:D430041D05Rik	UTSW	2	104233445	missense	probably damaging	1.00
R0607:D430041D05Rik	UTSW	2	104233445	missense	probably damaging	1.00
R0613:D430041D05Rik	UTSW	2	104167950	missense	probably damaging	1.00
R0626:D430041D05Rik	UTSW	2	104167950	missense	probably damaging	1.00
R0747:D430041D05Rik	UTSW	2	104230306	missense	probably damaging	1.00
R0864:D430041D05Rik	UTSW	2	104230428	missense	possibly damaging	0.78
R0980:D430041D05Rik	UTSW	2	104249345	missense	probably damaging	0.99
R1014:D430041D05Rik	UTSW	2	104258329	missense	possibly damaging	0.94
R1254:D430041D05Rik	UTSW	2	104201303	missense	probably damaging	1.00
R1364:D430041D05Rik	UTSW	2	104155018	missense	possibly damaging	0.93
R1456:D430041D05Rik	UTSW	2	104208083	missense	probably damaging	1.00
R1574:D430041D05Rik	UTSW	2	104221208	small deletion	probably benign
R1604:D430041D05Rik	UTSW	2	104205142	missense	probably damaging	1.00
R1605:D430041D05Rik	UTSW	2	104255570	missense	possibly damaging	0.46
R1623:D430041D05Rik	UTSW	2	104152963	missense	probably damaging	1.00
R1634:D430041D05Rik	UTSW	2	104221211	missense	probably damaging	1.00
R1834:D430041D05Rik	UTSW	2	104168101	missense	probably damaging	1.00
R1885:D430041D05Rik	UTSW	2	104230455	missense	probably benign	0.39
R2080:D430041D05Rik	UTSW	2	104156816	missense	probably damaging	1.00
R2101:D430041D05Rik	UTSW	2	104148830	missense	probably damaging	1.00
R2240:D430041D05Rik	UTSW	2	104156816	missense	probably damaging	1.00
R2923:D430041D05Rik	UTSW	2	104255315	missense	possibly damaging	0.94
R3751:D430041D05Rik	UTSW	2	104255058	missense	possibly damaging	0.94
R3862:D430041D05Rik	UTSW	2	104214177	missense	possibly damaging	0.54
R3863:D430041D05Rik	UTSW	2	104214177	missense	possibly damaging	0.54
R3864:D430041D05Rik	UTSW	2	104214177	missense	possibly damaging	0.54
R3949:D430041D05Rik	UTSW	2	104257368	missense	probably benign	0.02
R4493:D430041D05Rik	UTSW	2	104256339	missense	probably benign	0.02
R4526:D430041D05Rik	UTSW	2	104192433	critical splice donor site	probably null
R4592:D430041D05Rik	UTSW	2	104233479	missense	possibly damaging	0.89
R4598:D430041D05Rik	UTSW	2	104208183	missense	probably damaging	0.99
R4599:D430041D05Rik	UTSW	2	104208183	missense	probably damaging	0.99
R4647:D430041D05Rik	UTSW	2	104258443	missense	probably damaging	0.99
R4765:D430041D05Rik	UTSW	2	104214096	missense	probably damaging	1.00
R4808:D430041D05Rik	UTSW	2	104201110	critical splice donor site	probably null
R4868:D430041D05Rik	UTSW	2	104255409	missense	possibly damaging	0.73
R4982:D430041D05Rik	UTSW	2	104255387	missense	possibly damaging	0.46
R5144:D430041D05Rik	UTSW	2	104258502	missense	probably damaging	0.99
R5255:D430041D05Rik	UTSW	2	104256600	missense	probably benign	0.26
R5356:D430041D05Rik	UTSW	2	104255409	missense	probably damaging	0.99
R5368:D430041D05Rik	UTSW	2	104248284	missense	probably damaging	0.99
R5963:D430041D05Rik	UTSW	2	104248285	missense	possibly damaging	0.66
R5993:D430041D05Rik	UTSW	2	104168067	missense	probably damaging	1.00
R6122:D430041D05Rik	UTSW	2	104256292	missense	probably benign	0.01
R6410:D430041D05Rik	UTSW	2	104168203	splice site	probably null
R6804:D430041D05Rik	UTSW	2	104149026	missense	possibly damaging	0.85
R6850:D430041D05Rik	UTSW	2	104201259	missense	probably damaging	1.00
R6853:D430041D05Rik	UTSW	2	104241155	missense	probably damaging	1.00
R7034:D430041D05Rik	UTSW	2	104192538	missense	probably damaging	0.99
R7146:D430041D05Rik	UTSW	2	104258353	missense	probably benign	0.06
R7250:D430041D05Rik	UTSW	2	104256616	missense	possibly damaging	0.92
R7251:D430041D05Rik	UTSW	2	104221166	missense	probably damaging	1.00
R7313:D430041D05Rik	UTSW	2	104255565	missense	probably benign
R7359:D430041D05Rik	UTSW	2	104214137	missense	probably damaging	1.00
R7361:D430041D05Rik	UTSW	2	104255018	missense	possibly damaging	0.46
R7436:D430041D05Rik	UTSW	2	104257102	missense	probably benign	0.02
R7472:D430041D05Rik	UTSW	2	104410139	missense	unknown
R7492:D430041D05Rik	UTSW	2	104201305	missense	probably damaging	1.00
R7631:D430041D05Rik	UTSW	2	104149018	nonsense	probably null
R7672:D430041D05Rik	UTSW	2	104241236	missense	probably benign	0.01
R7721:D430041D05Rik	UTSW	2	104258529	missense	probably benign	0.00
R7754:D430041D05Rik	UTSW	2	104257159	missense	probably benign	0.01
R7882:D430041D05Rik	UTSW	2	104257629	nonsense	probably null
R7896:D430041D05Rik	UTSW	2	104258040	missense	probably benign	0.05
R7986:D430041D05Rik	UTSW	2	104256751	missense	probably damaging	1.00
R8005:D430041D05Rik	UTSW	2	104258254	missense	possibly damaging	0.72
R8016:D430041D05Rik	UTSW	2	104192519	missense	probably damaging	1.00
R8054:D430041D05Rik	UTSW	2	104155045	missense	possibly damaging	0.93
R8058:D430041D05Rik	UTSW	2	104148783	makesense	probably null
R8100:D430041D05Rik	UTSW	2	104256942	missense	probably benign	0.00
R8461:D430041D05Rik	UTSW	2	104167935	missense	possibly damaging	0.46
X0024:D430041D05Rik	UTSW	2	104192566	critical splice acceptor site	probably null
Z1176:D430041D05Rik	UTSW	2	104154935	missense	probably damaging	1.00
Z1176:D430041D05Rik	UTSW	2	104256856	missense	probably benign	0.00
Z1177:D430041D05Rik	UTSW	2	104241191	missense	possibly damaging	0.82

Posted On

2014-05-07