Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00336:A430033K04Rik'

332317

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

A430033K04Rik

Ensembl Gene

ENSMUSG00000056014

Gene Name

RIKEN cDNA A430033K04 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

IGL00336

Quality Score

Status

Chromosome

Chromosomal Location

138621121-138647179 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138645366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 417 (Y417C)

Ref Sequence

ENSEMBL: ENSMUSP00000142904 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069862] [ENSMUST00000198958]

AlphaFold

E9Q8G5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069862
AA Change: Y417C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000067316
Gene: ENSMUSG00000056014
AA Change: Y417C

Domain	Start	End	E-Value	Type
KRAB	16	76	6.23e-34	SMART
ZnF_C2H2	261	280	1.01e2	SMART
ZnF_C2H2	455	477	1.47e-3	SMART
ZnF_C2H2	483	505	4.05e-1	SMART
ZnF_C2H2	511	533	5.5e-3	SMART
ZnF_C2H2	539	561	7.26e-3	SMART
ZnF_C2H2	567	589	5.14e-3	SMART
ZnF_C2H2	595	617	3.63e-3	SMART
ZnF_C2H2	623	645	1.92e-2	SMART
ZnF_C2H2	651	673	2.12e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000198958
AA Change: Y417C

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142904
Gene: ENSMUSG00000056014
AA Change: Y417C

Domain	Start	End	E-Value	Type
KRAB	16	76	2.7e-36	SMART
ZnF_C2H2	261	280	4.2e-1	SMART
ZnF_C2H2	455	477	6.4e-6	SMART
ZnF_C2H2	483	505	1.8e-3	SMART
ZnF_C2H2	511	533	2.3e-5	SMART
ZnF_C2H2	539	561	3e-5	SMART
ZnF_C2H2	567	589	2.1e-5	SMART
ZnF_C2H2	595	617	1.5e-5	SMART
ZnF_C2H2	623	643	2.7e-1	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam28	T	A	14: 68,859,569 (GRCm39)	H548L	possibly damaging	Het
Agbl3	A	T	6: 34,823,771 (GRCm39)	D812V	probably damaging	Het
Aopep	A	T	13: 63,163,237 (GRCm39)	D86V	possibly damaging	Het
Aox1	T	A	1: 58,098,203 (GRCm39)	L305Q	probably damaging	Het
Arhgef38	A	G	3: 132,837,812 (GRCm39)	V706A	probably benign	Het
Arl15	A	G	13: 114,291,288 (GRCm39)	I171V	probably benign	Het
Cacna1s	C	A	1: 136,012,011 (GRCm39)	Y237*	probably null	Het
Ccnt1	T	C	15: 98,462,990 (GRCm39)	T61A	possibly damaging	Het
Col25a1	T	A	3: 129,975,433 (GRCm39)		probably benign	Het
Col4a1	T	A	8: 11,290,077 (GRCm39)		probably benign	Het
Dcun1d1	T	C	3: 35,970,455 (GRCm39)	E130G	possibly damaging	Het
Dnah7b	G	A	1: 46,181,309 (GRCm39)	M1065I	probably benign	Het
Ephb2	T	G	4: 136,384,795 (GRCm39)	K872T	probably damaging	Het
Fga	G	A	3: 82,938,981 (GRCm39)	G452D	probably damaging	Het
Flrt1	T	A	19: 7,074,277 (GRCm39)	N90I	probably damaging	Het
Fut10	T	A	8: 31,685,319 (GRCm39)		probably null	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Gpr137b	T	C	13: 13,549,000 (GRCm39)		probably benign	Het
Gprc5d	G	A	6: 135,093,488 (GRCm39)	Q140*	probably null	Het
Ifi27l2b	T	C	12: 103,417,476 (GRCm39)	K237R	unknown	Het
Ipo8	A	T	6: 148,684,284 (GRCm39)	M836K	possibly damaging	Het
Kcnq4	G	A	4: 120,555,213 (GRCm39)	Q657*	probably null	Het
Lama1	A	T	17: 68,120,943 (GRCm39)	H2693L	probably benign	Het
Lrrc23	A	G	6: 124,755,889 (GRCm39)	W40R	probably damaging	Het
Minar1	T	C	9: 89,485,196 (GRCm39)	D67G	probably damaging	Het
Morn2	C	A	17: 80,602,933 (GRCm39)		probably benign	Het
Ms4a6b	T	A	19: 11,506,854 (GRCm39)	N214K	possibly damaging	Het
Nags	A	T	11: 102,039,892 (GRCm39)	S527C	probably damaging	Het
Ndst1	C	T	18: 60,841,028 (GRCm39)	G218D	probably damaging	Het
Or10j5	G	A	1: 172,785,045 (GRCm39)	V228M	probably benign	Het
Or5b94	T	A	19: 12,651,924 (GRCm39)	Y118*	probably null	Het
Or8h7	C	T	2: 86,720,589 (GRCm39)	C310Y	probably benign	Het
Oxa1l	G	T	14: 54,600,802 (GRCm39)	G92*	probably null	Het
Parp16	A	T	9: 65,137,245 (GRCm39)	E157V	probably damaging	Het
Pcdh17	A	T	14: 84,684,984 (GRCm39)	I484F	probably damaging	Het
Pex16	A	G	2: 92,209,580 (GRCm39)	R263G	probably benign	Het
Pkd1l3	G	A	8: 110,356,869 (GRCm39)	E765K	possibly damaging	Het
Plce1	T	C	19: 38,640,350 (GRCm39)	V532A	probably damaging	Het
Polq	A	G	16: 36,885,609 (GRCm39)		probably benign	Het
Pramel5	T	C	4: 143,998,191 (GRCm39)	T351A	probably damaging	Het
Prokr1	A	T	6: 87,565,593 (GRCm39)	I84N	probably damaging	Het
Prss30	A	T	17: 24,192,695 (GRCm39)	S162T	probably benign	Het
Ranbp2	A	G	10: 58,287,806 (GRCm39)	K25E	probably damaging	Het
Rapsn	A	G	2: 90,866,205 (GRCm39)	T22A	probably damaging	Het
Rhoj	G	T	12: 75,355,680 (GRCm39)	G9V	probably damaging	Het
Rnf213	A	G	11: 119,340,169 (GRCm39)	R3467G	probably benign	Het
Rreb1	C	A	13: 38,113,622 (GRCm39)	S327*	probably null	Het
Scn5a	G	A	9: 119,315,290 (GRCm39)	P1806L	probably damaging	Het
Sema6a	C	A	18: 47,423,042 (GRCm39)		probably null	Het
Stag3	G	A	5: 138,295,921 (GRCm39)	E416K	probably benign	Het
Stpg1	T	A	4: 135,256,856 (GRCm39)	S216T	possibly damaging	Het
Tfeb	C	A	17: 48,102,589 (GRCm39)	N426K	probably benign	Het
Trp53bp1	G	T	2: 121,087,060 (GRCm39)	Q199K	possibly damaging	Het
Ubr4	A	G	4: 139,155,877 (GRCm39)	D2234G	probably damaging	Het
Ush1c	T	G	7: 45,846,194 (GRCm39)	Q866P	probably benign	Het
Vdr	T	A	15: 97,782,735 (GRCm39)	D29V	probably damaging	Het
Vps13c	T	C	9: 67,853,224 (GRCm39)	V2439A	probably benign	Het
Xirp2	T	C	2: 67,342,942 (GRCm39)	S1728P	possibly damaging	Het
Zfp9	A	G	6: 118,441,436 (GRCm39)	S409P	probably damaging	Het

Other mutations in A430033K04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:A430033K04Rik	APN	5	138,645,854 (GRCm39)	missense	probably damaging	1.00
IGL02615:A430033K04Rik	APN	5	138,644,402 (GRCm39)	nonsense	probably null
IGL03354:A430033K04Rik	APN	5	138,645,041 (GRCm39)	missense	possibly damaging	0.85
R0172:A430033K04Rik	UTSW	5	138,645,578 (GRCm39)	missense	probably damaging	0.99
R1769:A430033K04Rik	UTSW	5	138,644,519 (GRCm39)	missense	probably benign	0.04
R4515:A430033K04Rik	UTSW	5	138,646,006 (GRCm39)	missense	probably damaging	1.00
R4903:A430033K04Rik	UTSW	5	138,645,119 (GRCm39)	nonsense	probably null
R4964:A430033K04Rik	UTSW	5	138,645,119 (GRCm39)	nonsense	probably null
R5389:A430033K04Rik	UTSW	5	138,644,559 (GRCm39)	missense	probably benign	0.02
R5769:A430033K04Rik	UTSW	5	138,644,595 (GRCm39)	missense	possibly damaging	0.86
R6128:A430033K04Rik	UTSW	5	138,646,038 (GRCm39)	missense	probably damaging	1.00
R6399:A430033K04Rik	UTSW	5	138,645,821 (GRCm39)	missense	probably damaging	1.00
R6444:A430033K04Rik	UTSW	5	138,637,831 (GRCm39)	small deletion	probably benign
R6600:A430033K04Rik	UTSW	5	138,645,710 (GRCm39)	frame shift	probably null
R6774:A430033K04Rik	UTSW	5	138,644,712 (GRCm39)	missense	probably benign
R7098:A430033K04Rik	UTSW	5	138,644,784 (GRCm39)	missense	probably benign
R7217:A430033K04Rik	UTSW	5	138,645,188 (GRCm39)	missense	probably benign
R7269:A430033K04Rik	UTSW	5	138,645,014 (GRCm39)	missense	possibly damaging	0.86
R7429:A430033K04Rik	UTSW	5	138,634,445 (GRCm39)	missense	possibly damaging	0.92
R7442:A430033K04Rik	UTSW	5	138,645,509 (GRCm39)	missense	possibly damaging	0.55
R7718:A430033K04Rik	UTSW	5	138,646,122 (GRCm39)	missense	possibly damaging	0.73
R8007:A430033K04Rik	UTSW	5	138,644,901 (GRCm39)	missense	probably benign	0.33
R8170:A430033K04Rik	UTSW	5	138,645,315 (GRCm39)	missense	possibly damaging	0.72
R8348:A430033K04Rik	UTSW	5	138,634,514 (GRCm39)	missense	probably damaging	1.00
R8496:A430033K04Rik	UTSW	5	138,645,120 (GRCm39)	missense	probably benign	0.00
R8520:A430033K04Rik	UTSW	5	138,644,968 (GRCm39)	missense	possibly damaging	0.72
R8778:A430033K04Rik	UTSW	5	138,645,149 (GRCm39)	missense	possibly damaging	0.53
R8858:A430033K04Rik	UTSW	5	138,638,338 (GRCm39)	missense	probably benign	0.01
R9147:A430033K04Rik	UTSW	5	138,644,547 (GRCm39)	missense	possibly damaging	0.86
R9148:A430033K04Rik	UTSW	5	138,644,547 (GRCm39)	missense	possibly damaging	0.86
R9418:A430033K04Rik	UTSW	5	138,645,317 (GRCm39)	missense	probably damaging	1.00
R9645:A430033K04Rik	UTSW	5	138,644,793 (GRCm39)	missense	probably benign	0.33
R9661:A430033K04Rik	UTSW	5	138,645,451 (GRCm39)	missense	possibly damaging	0.53

Posted On

2015-08-05