Mutagenetix > Incidental Mutation

Incidental Mutation 'R0826:4930433I11Rik'

78231

Institutional Source

Beutler Lab

Gene Symbol

4930433I11Rik

Ensembl Gene

ENSMUSG00000091692

Gene Name

RIKEN cDNA 4930433I11 gene

Synonyms

LOC243944

MMRRC Submission

039006-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R0826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40637033-40644257 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40642480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 141 (T141S)

Ref Sequence

ENSEMBL: ENSMUSP00000146117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171664] [ENSMUST00000206529]

AlphaFold

A0A0U1RPT6

Predicted Effect

probably benign
Transcript: ENSMUST00000171664
AA Change: T50S

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000131120
Gene: ENSMUSG00000091692
AA Change: T50S

Domain	Start	End	E-Value	Type
Pfam:DUF4629	208	354	2.2e-60	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206360

Predicted Effect

probably benign
Transcript: ENSMUST00000206529
AA Change: T141S

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.1217

Coding Region Coverage

1x: 99.5%
3x: 98.6%
10x: 95.7%
20x: 86.3%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	T	C	9: 15,203,292 (GRCm39)		probably null	Het
Adamts16	T	A	13: 70,916,811 (GRCm39)	D727V	possibly damaging	Het
Anxa10	A	C	8: 62,529,318 (GRCm39)	L133*	probably null	Het
Arfgef3	G	A	10: 18,465,414 (GRCm39)	T2143I	probably damaging	Het
Arhgef17	T	C	7: 100,579,950 (GRCm39)	T333A	probably benign	Het
Arhgef40	A	G	14: 52,238,450 (GRCm39)	T1310A	probably benign	Het
Atg10	C	T	13: 91,084,705 (GRCm39)		probably null	Het
Atp1a1	A	G	3: 101,492,169 (GRCm39)	F569S	probably damaging	Het
Baiap3	A	G	17: 25,464,203 (GRCm39)	W849R	possibly damaging	Het
Baz1a	A	T	12: 54,977,097 (GRCm39)	Y9*	probably null	Het
Catsperg2	C	T	7: 29,405,049 (GRCm39)	D702N	possibly damaging	Het
Clasrp	G	T	7: 19,318,226 (GRCm39)		probably benign	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Col19a1	T	C	1: 24,565,467 (GRCm39)	K288R	unknown	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
Cttnbp2	A	G	6: 18,405,177 (GRCm39)		probably benign	Het
Dnah1	T	A	14: 31,025,864 (GRCm39)	I828F	probably benign	Het
Dpf2	G	T	19: 5,957,155 (GRCm39)	Q23K	probably damaging	Het
Dsc3	T	A	18: 20,114,229 (GRCm39)	I342F	probably damaging	Het
Enpp3	A	G	10: 24,671,614 (GRCm39)	L460P	probably damaging	Het
Epb41l2	A	G	10: 25,380,090 (GRCm39)	E871G	probably damaging	Het
Exoc2	T	C	13: 31,040,780 (GRCm39)		probably null	Het
Fam243	G	A	16: 92,118,075 (GRCm39)	S71L	probably benign	Het
Fpr-rs7	A	T	17: 20,333,888 (GRCm39)	S201T	probably benign	Het
Gtf2ird2	T	C	5: 134,245,797 (GRCm39)	F685S	probably damaging	Het
Helz2	C	T	2: 180,882,646 (GRCm39)	R49H	possibly damaging	Het
Ica1	A	G	6: 8,667,375 (GRCm39)		probably benign	Het
Ift56	A	G	6: 38,402,049 (GRCm39)		probably null	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kif21a	A	G	15: 90,881,744 (GRCm39)		probably null	Het
Lamb3	T	A	1: 193,013,216 (GRCm39)	C480*	probably null	Het
Lamc2	A	G	1: 153,027,828 (GRCm39)	S199P	probably damaging	Het
Lrfn3	T	C	7: 30,059,676 (GRCm39)	N183S	probably benign	Het
Lsm14a	C	A	7: 34,070,470 (GRCm39)		probably benign	Het
Mest	C	A	6: 30,742,813 (GRCm39)	H146Q	probably damaging	Het
Mmp27	T	C	9: 7,579,010 (GRCm39)	V339A	probably damaging	Het
Myo16	T	C	8: 10,426,285 (GRCm39)		probably benign	Het
Myoz1	C	T	14: 20,703,679 (GRCm39)		probably benign	Het
Nlrp5	A	G	7: 23,117,133 (GRCm39)	M286V	probably benign	Het
Optc	T	C	1: 133,832,893 (GRCm39)	K69R	probably benign	Het
Or13c3	C	T	4: 52,855,566 (GRCm39)	V316I	probably benign	Het
Or2y1c	A	T	11: 49,361,158 (GRCm39)	Y60F	probably damaging	Het
Or4a77	A	C	2: 89,487,181 (GRCm39)	N201K	possibly damaging	Het
Or8g18	C	T	9: 39,149,725 (GRCm39)	M1I	probably null	Het
Osbpl3	A	T	6: 50,323,357 (GRCm39)	M242K	probably damaging	Het
Pdzd9	T	A	7: 120,267,624 (GRCm39)	S64C	probably damaging	Het
Pik3cg	A	G	12: 32,245,672 (GRCm39)	S859P	possibly damaging	Het
Ppp1r12a	G	T	10: 108,066,414 (GRCm39)	A202S	possibly damaging	Het
Rab32	A	T	10: 10,426,611 (GRCm39)	F112I	possibly damaging	Het
Ror2	T	C	13: 53,267,253 (GRCm39)	Y394C	probably damaging	Het
Rtn3	A	G	19: 7,445,245 (GRCm39)		probably benign	Het
Sbk1	C	T	7: 125,891,007 (GRCm39)	P147L	probably damaging	Het
Shpk	T	A	11: 73,094,857 (GRCm39)	M91K	probably damaging	Het
Slco6c1	C	T	1: 97,055,826 (GRCm39)	S25N	probably benign	Het
Snx2	A	T	18: 53,327,594 (GRCm39)	T107S	probably benign	Het
Tle2	G	A	10: 81,422,148 (GRCm39)	V397I	possibly damaging	Het
Tmem131l	T	C	3: 83,805,724 (GRCm39)	D1573G	probably damaging	Het
Tnfrsf8	A	G	4: 145,011,708 (GRCm39)		probably benign	Het
Tpmt	T	C	13: 47,194,965 (GRCm39)	E36G	probably benign	Het
Trim30c	T	A	7: 104,032,688 (GRCm39)	T257S	probably benign	Het
Tsc2	A	G	17: 24,815,932 (GRCm39)	L150P	probably benign	Het
Upf3a	G	C	8: 13,848,338 (GRCm39)	G378A	possibly damaging	Het
Yeats2	A	T	16: 20,011,966 (GRCm39)	K514*	probably null	Het
Zfp11	A	G	5: 129,734,589 (GRCm39)	Y291H	probably benign	Het
Zfp457	T	C	13: 67,441,378 (GRCm39)	D399G	possibly damaging	Het

Other mutations in 4930433I11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02380:4930433I11Rik	APN	7	40,643,968 (GRCm39)	missense	possibly damaging	0.50
BB002:4930433I11Rik	UTSW	7	40,643,506 (GRCm39)	nonsense	probably null
BB012:4930433I11Rik	UTSW	7	40,643,506 (GRCm39)	nonsense	probably null
FR4304:4930433I11Rik	UTSW	7	40,642,480 (GRCm39)	small deletion	probably benign
FR4340:4930433I11Rik	UTSW	7	40,642,479 (GRCm39)	small deletion	probably benign
FR4342:4930433I11Rik	UTSW	7	40,642,479 (GRCm39)	small deletion	probably benign
FR4548:4930433I11Rik	UTSW	7	40,642,480 (GRCm39)	small deletion	probably benign
R0498:4930433I11Rik	UTSW	7	40,642,718 (GRCm39)	missense	probably benign	0.11
R0610:4930433I11Rik	UTSW	7	40,642,480 (GRCm39)	missense	probably benign	0.22
R0704:4930433I11Rik	UTSW	7	40,643,381 (GRCm39)	missense	probably damaging	1.00
R0723:4930433I11Rik	UTSW	7	40,642,480 (GRCm39)	missense	probably benign	0.22
R0850:4930433I11Rik	UTSW	7	40,642,480 (GRCm39)	missense	probably benign	0.22
R0862:4930433I11Rik	UTSW	7	40,642,480 (GRCm39)	missense	probably benign	0.22
R0863:4930433I11Rik	UTSW	7	40,642,480 (GRCm39)	missense	probably benign	0.22
R0960:4930433I11Rik	UTSW	7	40,642,480 (GRCm39)	missense	probably benign	0.22
R0961:4930433I11Rik	UTSW	7	40,642,480 (GRCm39)	missense	probably benign	0.22
R0964:4930433I11Rik	UTSW	7	40,642,480 (GRCm39)	missense	probably benign	0.22
R1099:4930433I11Rik	UTSW	7	40,642,480 (GRCm39)	missense	probably benign	0.22
R1101:4930433I11Rik	UTSW	7	40,642,480 (GRCm39)	missense	probably benign	0.22
R1167:4930433I11Rik	UTSW	7	40,643,003 (GRCm39)	missense	probably damaging	1.00
R1401:4930433I11Rik	UTSW	7	40,642,480 (GRCm39)	missense	probably benign	0.22
R1429:4930433I11Rik	UTSW	7	40,642,480 (GRCm39)	missense	probably benign	0.22
R1462:4930433I11Rik	UTSW	7	40,642,370 (GRCm39)	nonsense	probably null
R1462:4930433I11Rik	UTSW	7	40,642,370 (GRCm39)	nonsense	probably null
R1816:4930433I11Rik	UTSW	7	40,644,222 (GRCm39)	nonsense	probably null
R1852:4930433I11Rik	UTSW	7	40,643,037 (GRCm39)	missense	probably benign	0.29
R3814:4930433I11Rik	UTSW	7	40,642,343 (GRCm39)	missense	probably damaging	0.99
R4124:4930433I11Rik	UTSW	7	40,643,345 (GRCm39)	missense	probably damaging	1.00
R4823:4930433I11Rik	UTSW	7	40,642,786 (GRCm39)	missense	probably benign	0.00
R5092:4930433I11Rik	UTSW	7	40,637,091 (GRCm39)	start gained	probably benign
R5792:4930433I11Rik	UTSW	7	40,642,945 (GRCm39)	missense	possibly damaging	0.76
R6160:4930433I11Rik	UTSW	7	40,642,950 (GRCm39)	missense	possibly damaging	0.91
R6300:4930433I11Rik	UTSW	7	40,642,885 (GRCm39)	missense	possibly damaging	0.91
R6349:4930433I11Rik	UTSW	7	40,644,196 (GRCm39)	missense	possibly damaging	0.89
R6755:4930433I11Rik	UTSW	7	40,643,734 (GRCm39)	missense	probably damaging	1.00
R6995:4930433I11Rik	UTSW	7	40,644,149 (GRCm39)	missense	probably benign	0.00
R7156:4930433I11Rik	UTSW	7	40,643,282 (GRCm39)	missense	possibly damaging	0.54
R7232:4930433I11Rik	UTSW	7	40,642,603 (GRCm39)	missense	probably damaging	1.00
R7318:4930433I11Rik	UTSW	7	40,643,111 (GRCm39)	missense	probably benign	0.04
R7395:4930433I11Rik	UTSW	7	40,639,102 (GRCm39)	missense	probably damaging	0.97
R7925:4930433I11Rik	UTSW	7	40,643,506 (GRCm39)	nonsense	probably null
R8726:4930433I11Rik	UTSW	7	40,644,226 (GRCm39)	missense	probably benign	0.04
R9190:4930433I11Rik	UTSW	7	40,642,880 (GRCm39)	missense	possibly damaging	0.85
R9488:4930433I11Rik	UTSW	7	40,643,212 (GRCm39)	missense	probably benign	0.00
RF003:4930433I11Rik	UTSW	7	40,642,479 (GRCm39)	small deletion	probably benign
RF004:4930433I11Rik	UTSW	7	40,642,479 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTTTTGCAGTGGTGGAAATGGATACA -3'
(R):5'- CTTTCTCTTCCAGACCCAGGTGGAT -3'

Sequencing Primer
(F):5'- GGATACATCCCTGGGATTGTCAC -3'
(R):5'- CCAAGCTGTCATTGTCAGAAG -3'

Posted On

2013-10-16