Mutagenetix > Incidental Mutation

Incidental Mutation 'R4823:4930433I11Rik'

371293

Institutional Source

Beutler Lab

Gene Symbol

4930433I11Rik

Ensembl Gene

ENSMUSG00000091692

Gene Name

RIKEN cDNA 4930433I11 gene

Synonyms

LOC243944

MMRRC Submission

042439-MU

Accession Numbers

Essential gene?

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

Stock #

R4823 (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 40642786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 152 (I152F)

Ref Sequence

ENSEMBL: ENSMUSP00000131120 (fasta)

Gene Model

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

AlphaFold

A0A0U1RPT6

Predicted Effect

probably benign
Transcript: ENSMUST00000171664
AA Change: I152F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000131120
Gene: ENSMUSG00000091692
AA Change: I152F

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: I243F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

98% (96/98)

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	G	A	5: 88,120,457 (GRCm39)	D405N	probably benign	Het
4921517D22Rik	T	G	13: 59,838,718 (GRCm39)	E38A	probably damaging	Het
Aass	A	T	6: 23,107,690 (GRCm39)	D364E	probably benign	Het
Adamts2	A	G	11: 50,628,014 (GRCm39)	D238G	probably benign	Het
Albfm1	T	A	5: 90,714,362 (GRCm39)	L124H	probably benign	Het
Aoc1l1	A	G	6: 48,952,195 (GRCm39)	D40G	probably damaging	Het
Aplf	G	A	6: 87,623,237 (GRCm39)	L302F	probably damaging	Het
Apol7b	G	T	15: 77,311,982 (GRCm39)		probably benign	Het
Arhgef12	A	G	9: 42,931,992 (GRCm39)	V165A	probably benign	Het
Ascc3	T	C	10: 50,589,329 (GRCm39)	S1017P	probably damaging	Het
B230104I21Rik	T	A	4: 154,434,204 (GRCm39)		probably benign	Het
Bfsp2	C	A	9: 103,357,082 (GRCm39)	C115F	probably damaging	Het
Bhmt2	A	T	13: 93,799,798 (GRCm39)	W213R	probably benign	Het
Capn5	A	T	7: 97,775,648 (GRCm39)	V431E	probably damaging	Het
Ccdc88c	A	G	12: 100,896,802 (GRCm39)	Y1390H	probably damaging	Het
Ccr3	A	G	9: 123,828,718 (GRCm39)	T18A	probably damaging	Het
Cdh5	T	C	8: 104,869,301 (GRCm39)	S676P	probably benign	Het
Ceacam5	A	G	7: 17,491,669 (GRCm39)	T680A	possibly damaging	Het
Cebpd	G	A	16: 15,705,978 (GRCm39)	G264S	probably benign	Het
Cfd	T	C	10: 79,726,782 (GRCm39)	V8A	probably benign	Het
Cops9	C	T	1: 92,569,588 (GRCm39)		probably benign	Het
Cpne6	T	C	14: 55,754,467 (GRCm39)	Y533H	probably damaging	Het
Cyp2c67	T	A	19: 39,604,168 (GRCm39)	H396L	probably benign	Het
Cyp2j9	G	A	4: 96,456,972 (GRCm39)	P500S	possibly damaging	Het
Cyp4a12a	A	T	4: 115,184,610 (GRCm39)		probably null	Het
Dbt	G	A	3: 116,317,036 (GRCm39)	D71N	probably damaging	Het
Ddx41	G	T	13: 55,679,868 (GRCm39)	Q440K	probably benign	Het
Elovl4	A	G	9: 83,662,738 (GRCm39)	F174S	probably damaging	Het
Emcn	C	G	3: 137,129,187 (GRCm39)	P193R	probably damaging	Het
Etnk1	T	C	6: 143,113,364 (GRCm39)		probably null	Het
Fads3	A	C	19: 10,019,252 (GRCm39)	S53R	probably damaging	Het
Fam193a	A	G	5: 34,616,372 (GRCm39)	E849G	probably damaging	Het
Fat3	A	G	9: 15,907,803 (GRCm39)	V2733A	probably benign	Het
Frem3	T	A	8: 81,340,587 (GRCm39)	M960K	probably benign	Het
Frmd6	A	T	12: 70,919,349 (GRCm39)	I62L	probably benign	Het
Glmp	T	C	3: 88,232,530 (GRCm39)		probably benign	Het
Gm17421	T	C	12: 113,333,161 (GRCm39)		noncoding transcript	Het
Gm27013	T	A	6: 130,499,186 (GRCm39)		noncoding transcript	Het
Gtf2ird1	A	G	5: 134,424,576 (GRCm39)	V390A	probably damaging	Het
Hps3	A	G	3: 20,066,890 (GRCm39)	Y559H	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Itpr3	A	G	17: 27,304,121 (GRCm39)	D114G	probably benign	Het
Jmjd4	G	A	11: 59,346,406 (GRCm39)	A408T	probably benign	Het
Kcnh4	G	T	11: 100,646,000 (GRCm39)	A316D	probably damaging	Het
Klrg1	T	A	6: 122,250,492 (GRCm39)		probably null	Het
Lancl2	T	A	6: 57,709,262 (GRCm39)	Y355N	probably damaging	Het
Ltb	T	C	17: 35,414,206 (GRCm39)	S115P	probably benign	Het
Mccc2	T	G	13: 100,136,762 (GRCm39)	R64S	probably benign	Het
Mgam2-ps	T	A	6: 40,809,596 (GRCm39)		noncoding transcript	Het
Mrrf	T	G	2: 36,038,042 (GRCm39)	N104K	possibly damaging	Het
Nipa1	C	A	7: 55,629,436 (GRCm39)	V226L	possibly damaging	Het
Numa1	T	A	7: 101,645,244 (GRCm39)	L290Q	probably damaging	Het
Ofcc1	T	A	13: 40,433,949 (GRCm39)	H52L	probably damaging	Het
Ogfod3	G	A	11: 121,086,027 (GRCm39)	A189V	probably benign	Het
Or14c39	T	A	7: 86,343,796 (GRCm39)	I44N	probably damaging	Het
Or5b21	A	T	19: 12,839,180 (GRCm39)	I14F	probably benign	Het
Or5d46	A	G	2: 88,170,179 (GRCm39)	D90G	probably damaging	Het
Or9i1b	G	A	19: 13,897,022 (GRCm39)	V213I	probably benign	Het
P2ry12	G	A	3: 59,125,318 (GRCm39)	S119L	probably benign	Het
Pde7b	T	A	10: 20,314,531 (GRCm39)	N192Y	probably damaging	Het
Pfkl	T	C	10: 77,833,428 (GRCm39)	N258S	probably damaging	Het
Phykpl	G	A	11: 51,477,420 (GRCm39)	A71T	probably damaging	Het
Ppp1r16a	T	C	15: 76,577,393 (GRCm39)		probably benign	Het
Pramel15	T	C	4: 144,099,781 (GRCm39)	N328S	possibly damaging	Het
Pramel32	T	C	4: 88,547,452 (GRCm39)	K160R	probably damaging	Het
Prune2	C	T	19: 17,097,868 (GRCm39)	T1124M	probably damaging	Het
Rapgef6	A	G	11: 54,585,326 (GRCm39)	I1570V	probably benign	Het
Rbm34	T	C	8: 127,697,655 (GRCm39)	S19G	probably benign	Het
Rnf10	T	C	5: 115,393,501 (GRCm39)		probably null	Het
Rnf34	A	G	5: 122,988,365 (GRCm39)		probably null	Het
Setd4	A	G	16: 93,386,838 (GRCm39)	S287P	probably benign	Het
Shc3	C	T	13: 51,605,606 (GRCm39)	V225I	probably benign	Het
Sipa1l3	C	T	7: 29,070,427 (GRCm39)	V1030I	probably damaging	Het
Siva1	G	T	12: 112,611,498 (GRCm39)	R33L	probably damaging	Het
Slc4a5	C	T	6: 83,249,115 (GRCm39)	T573I	probably damaging	Het
Sorcs1	C	T	19: 50,666,578 (GRCm39)	R110Q	possibly damaging	Het
Sorcs1	T	C	19: 50,218,740 (GRCm39)	I581V	possibly damaging	Het
Sorl1	T	C	9: 41,903,617 (GRCm39)	D1545G	probably damaging	Het
Tas2r124	T	G	6: 132,732,509 (GRCm39)	S273A	probably damaging	Het
Tcf15	T	C	2: 151,985,813 (GRCm39)	F90L	probably damaging	Het
Trim59	G	A	3: 68,944,453 (GRCm39)	R296C	probably benign	Het
Tulp1	A	T	17: 28,572,546 (GRCm39)	D229E	probably benign	Het
Ush1c	T	A	7: 45,845,157 (GRCm39)	N886I	probably benign	Het
Usp9y	A	T	Y: 1,444,559 (GRCm39)	S127T	probably damaging	Het
Vmn1r19	T	A	6: 57,382,219 (GRCm39)	Y257*	probably null	Het
Vmn2r109	A	T	17: 20,774,153 (GRCm39)	Y401N	probably damaging	Het
Vmn2r69	A	C	7: 85,060,508 (GRCm39)	S359A	probably benign	Het
Zfp37	A	T	4: 62,109,740 (GRCm39)	N479K	probably benign	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
R0826:4930433I11Rik	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
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'- CATGAGATGGAAGTTGAGCACTTG -3'
(R):5'- AGGACCCACTGATGACTCTG -3'

Sequencing Primer
(F):5'- ATGCCTCGGGATGCCTATAAG -3'
(R):5'- ACCCACTGATGACTCTGGAGTTTTC -3'

Posted On

2016-03-01