Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02926:D430041D05Rik'

363890

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

D430041D05Rik

Ensembl Gene

ENSMUSG00000068373

Gene Name

RIKEN cDNA D430041D05 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

IGL02926

Quality Score

Status

Chromosome

Chromosomal Location

104143073-104411013 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104214259 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 683 (D683G)

Ref Sequence

ENSEMBL: ENSMUSP00000117041 (fasta)

Gene Model

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

AlphaFold

A0A2R8VKG2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089726
AA Change: D798G

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106756
Gene: ENSMUSG00000068373
AA Change: D798G

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

possibly damaging
Transcript: ENSMUST00000136156
AA Change: D798G

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000141159
AA Change: D683G

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

SMART Domains

Protein: ENSMUSP00000117041
Gene: ENSMUSG00000068373
AA Change: D683G

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

probably damaging
Transcript: ENSMUST00000230671
AA Change: D1482G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	T	2: 130,712,366	R921K	probably benign	Het
Alms1	A	T	6: 85,641,450	D2826V	probably damaging	Het
Alpl	C	T	4: 137,742,634	A460T	probably damaging	Het
C2cd5	A	G	6: 143,031,237		probably benign	Het
C4b	C	T	17: 34,730,712	R1468Q	possibly damaging	Het
Calu	A	G	6: 29,366,920	T44A	possibly damaging	Het
Cgn	T	C	3: 94,778,016	K399R	probably benign	Het
Cyp2t4	G	A	7: 27,157,803	V356M	probably damaging	Het
Dhcr24	T	A	4: 106,586,355	I410N	probably damaging	Het
Dmap1	T	A	4: 117,681,888	E17V	probably benign	Het
Dnah7a	A	G	1: 53,495,950	I2717T	possibly damaging	Het
Epb41l3	G	T	17: 69,247,746	K280N	probably damaging	Het
Espl1	T	A	15: 102,299,855	M432K	probably damaging	Het
Fgf5	C	A	5: 98,262,015	A141E	probably damaging	Het
Fto	T	A	8: 91,485,167	F373L	probably damaging	Het
Gpatch1	T	C	7: 35,308,269	D122G	probably damaging	Het
Ints11	T	C	4: 155,888,111		probably null	Het
Jarid2	A	G	13: 44,902,929	Q398R	probably benign	Het
Kcnh1	A	G	1: 192,276,900	D254G	probably damaging	Het
Lamc3	C	T	2: 31,935,725		probably benign	Het
Lamc3	C	T	2: 31,935,726		probably benign	Het
Ltbp4	T	C	7: 27,328,872		probably null	Het
Mcm6	A	G	1: 128,339,382	Y575H	probably damaging	Het
Myh9	A	C	15: 77,787,626	Y422D	probably damaging	Het
Narfl	A	G	17: 25,782,154	H460R	probably benign	Het
Olfr1260	T	C	2: 89,978,162	L128P	probably damaging	Het
Olfr1458	A	C	19: 13,102,823	N160K	possibly damaging	Het
Olfr911-ps1	T	C	9: 38,523,725		probably benign	Het
Plcb1	T	C	2: 135,364,762		probably benign	Het
Pmfbp1	A	G	8: 109,520,249	E251G	probably damaging	Het
Psg27	A	T	7: 18,557,129	V383E	probably damaging	Het
Ptprn	A	T	1: 75,247,873	H946Q	possibly damaging	Het
Rbl1	A	G	2: 157,167,413	V734A	probably benign	Het
Rspry1	T	A	8: 94,649,811	N320K	probably damaging	Het
Ryr1	A	T	7: 29,061,540	V3219D	probably damaging	Het
Ryr2	C	A	13: 11,759,835	W1145L	probably damaging	Het
Scel	A	T	14: 103,576,247	R319*	probably null	Het
Stxbp2	C	T	8: 3,635,629	T226I	probably benign	Het
Tac1	A	T	6: 7,562,410	N106I	possibly damaging	Het
Trim13	G	T	14: 61,605,244		probably null	Het
Tspan31	T	G	10: 127,068,909		probably null	Het
Usp36	C	T	11: 118,264,783	V723M	probably benign	Het
Utrn	A	T	10: 12,690,760	N1219K	probably damaging	Het
Vcan	G	T	13: 89,688,623	T2934K	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
IGL02015:D430041D05Rik	APN	2	104230404	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
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
R8695:D430041D05Rik	UTSW	2	104254954	critical splice donor site	probably null
R8885:D430041D05Rik	UTSW	2	104241193	missense	probably damaging	1.00
R9007:D430041D05Rik	UTSW	2	104257585	missense	probably benign	0.08
R9009:D430041D05Rik	UTSW	2	104410176	start gained	probably benign
R9335:D430041D05Rik	UTSW	2	104248329	missense	probably damaging	1.00
R9348:D430041D05Rik	UTSW	2	104257992	missense	probably benign	0.05
R9384:D430041D05Rik	UTSW	2	104257575	missense	probably benign
R9483:D430041D05Rik	UTSW	2	104257218	missense	probably benign	0.44
R9489:D430041D05Rik	UTSW	2	104256844	missense	probably benign	0.20
R9605:D430041D05Rik	UTSW	2	104256844	missense	probably benign	0.20
R9613:D430041D05Rik	UTSW	2	104230392	missense	probably benign	0.09
R9698:D430041D05Rik	UTSW	2	104155051	missense	probably damaging	1.00
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

2015-12-18