Mutagenetix > Incidental Mutation

Incidental Mutation 'R4471:4930452B06Rik'

329458

Institutional Source

Beutler Lab

Gene Symbol

4930452B06Rik

Ensembl Gene

ENSMUSG00000021747

Gene Name

RIKEN cDNA 4930452B06 gene

Synonyms

MMRRC Submission

041728-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R4471 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8431192-8666240 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8536571 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 212 (L212P)

Ref Sequence

ENSEMBL: ENSMUSP00000100061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102996]

AlphaFold

Q6P2K3

Predicted Effect

probably damaging
Transcript: ENSMUST00000102996
AA Change: L212P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000100061
Gene: ENSMUSG00000021747
AA Change: L212P

Domain	Start	End	E-Value	Type
Pfam:DUF667	1	188	1.7e-43	PFAM
low complexity region	344	358	N/A	INTRINSIC
low complexity region	506	519	N/A	INTRINSIC
low complexity region	568	578	N/A	INTRINSIC
low complexity region	613	627	N/A	INTRINSIC
low complexity region	639	650	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225744

Meta Mutation Damage Score

0.5535

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AF067061	G	T	13: 120,264,043 (GRCm38)	R81L	probably benign	Het
Alpk1	A	G	3: 127,679,526 (GRCm38)	S943P	probably damaging	Het
Ankdd1a	T	C	9: 65,503,509 (GRCm38)	D398G	probably damaging	Het
Ankrd13b	T	A	11: 77,476,214 (GRCm38)	K49M	probably damaging	Het
Asah1	A	G	8: 41,343,724 (GRCm38)		probably null	Het
Cdc34b	A	G	11: 94,742,238 (GRCm38)	E88G	probably benign	Het
Cdh2	T	C	18: 16,774,476 (GRCm38)		probably null	Het
Ceacam1	T	A	7: 25,474,600 (GRCm38)	N210I	possibly damaging	Het
Celf3	A	G	3: 94,488,278 (GRCm38)		probably null	Het
Cmya5	A	T	13: 93,092,325 (GRCm38)	M2085K	probably benign	Het
Cpne6	G	A	14: 55,516,632 (GRCm38)	V469M	probably damaging	Het
Cyp2j12	A	G	4: 96,133,069 (GRCm38)	V100A	probably benign	Het
Diexf	C	T	1: 193,130,137 (GRCm38)	R5Q	possibly damaging	Het
Dnajb4	A	T	3: 152,185,162 (GRCm38)	H333Q	probably benign	Het
Eif3f	T	C	7: 108,940,946 (GRCm38)	V316A	possibly damaging	Het
Eml1	T	C	12: 108,506,635 (GRCm38)		probably benign	Het
Ern1	C	A	11: 106,420,042 (GRCm38)	V302L	possibly damaging	Het
Fam110b	A	T	4: 5,799,092 (GRCm38)	H170L	probably benign	Het
Fn3krp	T	G	11: 121,426,673 (GRCm38)	D146E	probably benign	Het
Git1	A	G	11: 77,499,824 (GRCm38)	T129A	probably benign	Het
Glrp1	T	A	1: 88,503,474 (GRCm38)	Q58L	unknown	Het
Gpatch2	A	G	1: 187,233,140 (GRCm38)	E281G	probably damaging	Het
Hipk2	T	A	6: 38,736,922 (GRCm38)		probably benign	Het
Hydin	A	G	8: 110,587,132 (GRCm38)	N4214S	probably damaging	Het
Icam5	T	A	9: 21,035,506 (GRCm38)	C443*	probably null	Het
Impdh1	G	A	6: 29,204,632 (GRCm38)	Q307*	probably null	Het
Ivns1abp	C	T	1: 151,361,239 (GRCm38)	T447M	probably benign	Het
Lman1	A	T	18: 65,991,726 (GRCm38)		probably benign	Het
Mdn1	A	G	4: 32,668,860 (GRCm38)	E306G	probably benign	Het
Msc	G	C	1: 14,755,678 (GRCm38)	P24R	probably damaging	Het
Mtif2	T	C	11: 29,540,053 (GRCm38)		probably benign	Het
Mvp	C	T	7: 127,001,958 (GRCm38)	M1I	probably null	Het
Myh7	A	T	14: 54,991,854 (GRCm38)	Y162*	probably null	Het
Nemf	G	A	12: 69,314,442 (GRCm38)	H956Y	probably benign	Het
Nktr	T	C	9: 121,748,896 (GRCm38)		probably benign	Het
Nrxn3	T	C	12: 90,204,741 (GRCm38)	S276P	probably damaging	Het
Olfr26	T	C	9: 38,855,631 (GRCm38)	S190P	probably damaging	Het
Patj	A	G	4: 98,535,579 (GRCm38)	K621E	probably damaging	Het
Prss2	A	G	6: 41,522,846 (GRCm38)	I24V	probably damaging	Het
R3hcc1l	T	C	19: 42,582,820 (GRCm38)		probably benign	Het
Rest	T	C	5: 77,281,180 (GRCm38)	V482A	probably benign	Het
Rexo1	A	T	10: 80,542,658 (GRCm38)	S476T	probably damaging	Het
Rin2	C	T	2: 145,860,446 (GRCm38)	T354I	probably benign	Het
Slc16a3	T	C	11: 120,955,948 (GRCm38)		probably benign	Het
Slc5a4b	G	A	10: 76,058,891 (GRCm38)	Q594*	probably null	Het
Slk	T	G	19: 47,615,423 (GRCm38)	V202G	probably damaging	Het
Smarca2	T	A	19: 26,619,877 (GRCm38)	V53D	possibly damaging	Het
Snrnp200	T	A	2: 127,238,753 (GRCm38)	V2036E	probably benign	Het
Sox5	A	G	6: 143,844,765 (GRCm38)	M523T	possibly damaging	Het
Syt17	A	G	7: 118,436,817 (GRCm38)		probably null	Het
Taf2	T	C	15: 55,058,880 (GRCm38)	D337G	possibly damaging	Het
Tecrl	A	G	5: 83,313,287 (GRCm38)	Y108H	probably benign	Het
Tln1	A	T	4: 43,551,018 (GRCm38)	F409L	probably benign	Het
Tmem59l	A	G	8: 70,487,301 (GRCm38)	L6S	unknown	Het
Ttc23	G	A	7: 67,670,156 (GRCm38)	R187Q	probably benign	Het
Ttl	T	C	2: 129,082,057 (GRCm38)	V230A	probably benign	Het
Ube2u	G	A	4: 100,481,646 (GRCm38)	W36*	probably null	Het
Ube4a	A	T	9: 44,946,532 (GRCm38)		probably benign	Het
Ulk1	C	T	5: 110,789,357 (GRCm38)	R691Q	probably benign	Het
Unc45a	A	G	7: 80,332,980 (GRCm38)	I399T	possibly damaging	Het
Wdr59	A	C	8: 111,466,787 (GRCm38)		probably null	Het
Zfp24	A	G	18: 24,018,115 (GRCm38)		probably benign	Het
Zfp777	A	T	6: 48,042,107 (GRCm38)	W342R	probably damaging	Het
Zfp979	A	T	4: 147,613,456 (GRCm38)	C265*	probably null	Het
Zzef1	T	A	11: 72,913,331 (GRCm38)	L2633Q	probably damaging	Het

Other mutations in 4930452B06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:4930452B06Rik	APN	14	8,473,370 (GRCm38)	missense	possibly damaging	0.57
IGL02010:4930452B06Rik	APN	14	8,578,384 (GRCm38)	missense	possibly damaging	0.68
IGL02385:4930452B06Rik	APN	14	8,510,920 (GRCm38)	missense	possibly damaging	0.59
IGL02431:4930452B06Rik	APN	14	8,659,424 (GRCm38)	missense	probably damaging	1.00
IGL02723:4930452B06Rik	APN	14	8,516,507 (GRCm38)	missense	probably benign	0.02
IGL02865:4930452B06Rik	APN	14	8,517,940 (GRCm38)	missense	probably benign	0.00
IGL03030:4930452B06Rik	APN	14	8,511,113 (GRCm38)	missense	probably damaging	1.00
IGL03204:4930452B06Rik	APN	14	8,644,436 (GRCm38)	missense	possibly damaging	0.68
IGL03014:4930452B06Rik	UTSW	14	8,431,608 (GRCm38)	makesense	probably null
R0197:4930452B06Rik	UTSW	14	8,518,695 (GRCm38)	missense	probably damaging	1.00
R0265:4930452B06Rik	UTSW	14	8,431,667 (GRCm38)	missense	probably damaging	1.00
R0513:4930452B06Rik	UTSW	14	8,536,609 (GRCm38)	missense	probably damaging	1.00
R0647:4930452B06Rik	UTSW	14	8,536,655 (GRCm38)	missense	possibly damaging	0.94
R1168:4930452B06Rik	UTSW	14	8,442,939 (GRCm38)	missense	probably benign	0.22
R1610:4930452B06Rik	UTSW	14	8,511,110 (GRCm38)	missense	probably benign	0.00
R1625:4930452B06Rik	UTSW	14	8,431,668 (GRCm38)	missense	probably damaging	1.00
R2010:4930452B06Rik	UTSW	14	8,511,021 (GRCm38)	missense	probably damaging	1.00
R2084:4930452B06Rik	UTSW	14	8,558,171 (GRCm38)	missense	probably damaging	1.00
R2174:4930452B06Rik	UTSW	14	8,558,109 (GRCm38)	missense	probably benign	0.02
R3802:4930452B06Rik	UTSW	14	8,510,931 (GRCm38)	missense	probably benign	0.00
R4244:4930452B06Rik	UTSW	14	8,482,521 (GRCm38)	missense	probably benign	0.00
R4516:4930452B06Rik	UTSW	14	8,536,609 (GRCm38)	missense	probably damaging	1.00
R4824:4930452B06Rik	UTSW	14	8,665,997 (GRCm38)	start codon destroyed	probably null	0.93
R4884:4930452B06Rik	UTSW	14	8,578,394 (GRCm38)	missense	probably damaging	0.97
R4975:4930452B06Rik	UTSW	14	8,518,736 (GRCm38)	missense	probably benign	0.00
R5455:4930452B06Rik	UTSW	14	8,536,516 (GRCm38)	critical splice donor site	probably null
R6280:4930452B06Rik	UTSW	14	8,473,414 (GRCm38)	critical splice acceptor site	probably null
R6438:4930452B06Rik	UTSW	14	8,431,701 (GRCm38)	missense	probably damaging	0.98
R6639:4930452B06Rik	UTSW	14	8,536,530 (GRCm38)	missense	probably benign	0.12
R7101:4930452B06Rik	UTSW	14	8,511,171 (GRCm38)	missense	possibly damaging	0.75
R7456:4930452B06Rik	UTSW	14	8,442,933 (GRCm38)	nonsense	probably null
R8266:4930452B06Rik	UTSW	14	8,482,599 (GRCm38)	nonsense	probably null
R8854:4930452B06Rik	UTSW	14	8,518,638 (GRCm38)	missense	probably damaging	1.00
R9053:4930452B06Rik	UTSW	14	8,518,768 (GRCm38)	critical splice acceptor site	probably null
R9157:4930452B06Rik	UTSW	14	8,518,635 (GRCm38)	missense	probably benign	0.00
R9294:4930452B06Rik	UTSW	14	8,578,361 (GRCm38)	missense	possibly damaging	0.84
R9313:4930452B06Rik	UTSW	14	8,518,635 (GRCm38)	missense	probably benign	0.00
R9502:4930452B06Rik	UTSW	14	8,659,452 (GRCm38)	missense	probably damaging	0.98
Z1177:4930452B06Rik	UTSW	14	8,517,953 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCAATGCTCACATGCCAAGTTC -3'
(R):5'- TGCTTAGTTGGCAGCAAGG -3'

Sequencing Primer
(F):5'- GGCATTGACCTGCGCTAAATC -3'
(R):5'- CAAGGGCTTGCATTTGGGG -3'

Posted On

2015-07-21