Mutagenetix > Incidental Mutation

Incidental Mutation 'R4876:4930562C15Rik'

376914

Institutional Source

Beutler Lab

Gene Symbol

4930562C15Rik

Ensembl Gene

ENSMUSG00000022518

Gene Name

RIKEN cDNA 4930562C15 gene

Synonyms

MMRRC Submission

042485-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R4876 (G1)

Quality Score

153

Status

Not validated

Chromosome

Chromosomal Location

4835416-4867686 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4849672 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 309 (F309S)

Ref Sequence

ENSEMBL: ENSMUSP00000097784 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100211] [ENSMUST00000175836] [ENSMUST00000177042]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000100211
AA Change: F309S

SMART Domains

Protein: ENSMUSP00000097784
Gene: ENSMUSG00000022518
AA Change: F309S

Domain	Start	End	E-Value	Type
coiled coil region	74	101	N/A	INTRINSIC
coiled coil region	181	211	N/A	INTRINSIC
internal_repeat_1	289	315	2.54e-5	PROSPERO
internal_repeat_1	314	341	2.54e-5	PROSPERO
low complexity region	360	377	N/A	INTRINSIC
low complexity region	402	424	N/A	INTRINSIC
low complexity region	452	469	N/A	INTRINSIC
low complexity region	573	604	N/A	INTRINSIC
low complexity region	616	627	N/A	INTRINSIC
low complexity region	630	647	N/A	INTRINSIC
low complexity region	652	672	N/A	INTRINSIC
Pfam:DUF4795	745	960	1.7e-46	PFAM
low complexity region	1095	1109	N/A	INTRINSIC
low complexity region	1111	1125	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175836

SMART Domains

Protein: ENSMUSP00000135532
Gene: ENSMUSG00000022518

Domain	Start	End	E-Value	Type
internal_repeat_1	72	98	1.04e-6	PROSPERO
internal_repeat_1	97	124	1.04e-6	PROSPERO
low complexity region	143	160	N/A	INTRINSIC
low complexity region	185	207	N/A	INTRINSIC
low complexity region	235	252	N/A	INTRINSIC
internal_repeat_2	253	306	2.47e-5	PROSPERO
internal_repeat_2	297	351	2.47e-5	PROSPERO
low complexity region	356	387	N/A	INTRINSIC
low complexity region	399	410	N/A	INTRINSIC
low complexity region	413	430	N/A	INTRINSIC
low complexity region	435	455	N/A	INTRINSIC
coiled coil region	564	582	N/A	INTRINSIC
low complexity region	590	601	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177042

SMART Domains

Protein: ENSMUSP00000135160
Gene: ENSMUSG00000022518

Domain	Start	End	E-Value	Type
coiled coil region	74	101	N/A	INTRINSIC
coiled coil region	181	211	N/A	INTRINSIC
internal_repeat_1	289	315	2.39e-6	PROSPERO
internal_repeat_1	314	341	2.39e-6	PROSPERO
low complexity region	360	377	N/A	INTRINSIC
low complexity region	402	424	N/A	INTRINSIC
low complexity region	452	469	N/A	INTRINSIC
internal_repeat_2	470	523	5.51e-5	PROSPERO
internal_repeat_2	514	568	5.51e-5	PROSPERO
low complexity region	573	604	N/A	INTRINSIC
low complexity region	616	627	N/A	INTRINSIC
low complexity region	630	647	N/A	INTRINSIC
low complexity region	652	672	N/A	INTRINSIC
coiled coil region	781	799	N/A	INTRINSIC
low complexity region	807	818	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

99% (97/98)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630001G21Rik	C	T	1: 85,719,040 (GRCm38)	V167M	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm38)	G601S	probably damaging	Het
Ano4	A	G	10: 89,112,835 (GRCm38)	F138L	probably damaging	Het
Aoc1	T	C	6: 48,906,747 (GRCm38)	V519A	possibly damaging	Het
Arhgef37	A	T	18: 61,498,239 (GRCm38)	Y558*	probably null	Het
Atxn3	T	A	12: 101,948,379 (GRCm38)	S29C	probably damaging	Het
Bbs2	T	C	8: 94,070,160 (GRCm38)		probably benign	Het
Bicral	A	T	17: 46,825,576 (GRCm38)	I236N	probably damaging	Het
Cabcoco1	A	G	10: 68,541,769 (GRCm38)	V30A	probably benign	Het
Cap2	A	G	13: 46,531,021 (GRCm38)	M1V	probably null	Het
Ccdc153	T	C	9: 44,241,008 (GRCm38)	M1T	probably null	Het
Ccnf	A	T	17: 24,230,337 (GRCm38)	V489D	probably damaging	Het
Cdin1	A	C	2: 115,670,058 (GRCm38)	H159P	probably damaging	Het
Cntnap3	T	C	13: 64,787,706 (GRCm38)	T448A	probably benign	Het
Cpa4	G	A	6: 30,590,815 (GRCm38)	D371N	probably benign	Het
Csl	T	A	10: 99,758,540 (GRCm38)	Y221F	possibly damaging	Het
Dalrd3	T	C	9: 108,571,436 (GRCm38)		probably benign	Het
Dennd4a	T	A	9: 64,896,590 (GRCm38)	N1070K	probably benign	Het
Dipk2a	C	T	9: 94,537,577 (GRCm38)	R100H	probably damaging	Het
Dmwd	A	T	7: 19,080,547 (GRCm38)	D374V	probably damaging	Het
Eea1	G	T	10: 95,995,613 (GRCm38)	A189S	probably benign	Het
Fasn	A	G	11: 120,812,312 (GRCm38)	V1629A	probably damaging	Het
Fcgbpl1	A	T	7: 28,142,800 (GRCm38)		probably benign	Het
Fndc1	T	C	17: 7,771,639 (GRCm38)	D1075G	unknown	Het
Fsip2	A	G	2: 82,974,858 (GRCm38)	N507S	possibly damaging	Het
Gabra5	T	G	7: 57,413,665 (GRCm38)	E337A	probably damaging	Het
Gsg1l	A	G	7: 125,891,669 (GRCm38)	Y288H	probably benign	Het
H2-M11	A	T	17: 36,547,509 (GRCm38)	D65V	probably benign	Het
Hmgxb3	A	T	18: 61,146,534 (GRCm38)	C736S	possibly damaging	Het
Hsd3b3	A	T	3: 98,742,644 (GRCm38)	I121N	probably damaging	Het
Ikbke	GCC	G	1: 131,275,267 (GRCm38)		probably null	Het
Il16	A	C	7: 83,673,094 (GRCm38)	S338A	probably benign	Het
Itpr1	G	A	6: 108,482,906 (GRCm38)	A2054T	probably damaging	Het
Lamp3	T	A	16: 19,655,470 (GRCm38)	I385F	probably damaging	Het
Limch1	G	A	5: 66,881,927 (GRCm38)	V66I	possibly damaging	Het
Lmod2	A	G	6: 24,604,279 (GRCm38)	R418G	probably benign	Het
Ly6g6c	A	T	17: 35,069,440 (GRCm38)	D96V	probably damaging	Het
Map2k2	G	A	10: 81,115,113 (GRCm38)	V131M	probably damaging	Het
Mapk9	T	C	11: 49,854,325 (GRCm38)	V22A	probably damaging	Het
Mettl2	T	C	11: 105,129,068 (GRCm38)	I177T	probably damaging	Het
Mob4	C	T	1: 55,152,836 (GRCm38)		probably benign	Het
Mybpc1	T	C	10: 88,522,991 (GRCm38)	I1113V	probably benign	Het
Mybpc1	A	T	10: 88,536,424 (GRCm38)	N781K	probably benign	Het
Myom1	A	G	17: 71,077,410 (GRCm38)	T707A	probably damaging	Het
Ncam2	G	A	16: 81,490,346 (GRCm38)	A383T	probably benign	Het
Nomo1	T	C	7: 46,066,491 (GRCm38)	S761P	probably damaging	Het
Nsd3	T	A	8: 25,691,134 (GRCm38)	S921T	possibly damaging	Het
Omp	A	T	7: 98,145,026 (GRCm38)	D131E	probably benign	Het
Or10d1c	A	T	9: 38,982,626 (GRCm38)	C139*	probably null	Het
Or4f7d-ps1	C	G	2: 111,844,695 (GRCm38)		noncoding transcript	Het
Or8d4	C	T	9: 40,127,218 (GRCm38)	V248I	probably damaging	Het
Pard3	T	C	8: 127,561,469 (GRCm38)		probably benign	Het
Parg	A	G	14: 32,271,668 (GRCm38)	T286A	probably damaging	Het
Parp1	T	A	1: 180,569,035 (GRCm38)	M1K	probably null	Het
Pclo	T	A	5: 14,811,680 (GRCm38)	S4882R	unknown	Het
Pcnx2	C	T	8: 125,772,108 (GRCm38)	E1551K	probably damaging	Het
Pcyox1l	A	G	18: 61,699,494 (GRCm38)	Y161H	probably damaging	Het
Pdzd8	A	T	19: 59,300,804 (GRCm38)	C721*	probably null	Het
Piwil4	T	C	9: 14,740,465 (GRCm38)	D90G	probably benign	Het
Plxdc2	T	A	2: 16,703,318 (GRCm38)	C306S	probably damaging	Het
Plxna2	T	A	1: 194,643,775 (GRCm38)	F6I	probably benign	Het
Prkaa1	T	C	15: 5,174,405 (GRCm38)	M265T	probably benign	Het
Prrc2b	T	C	2: 32,214,200 (GRCm38)	V1230A	probably benign	Het
Rfx2	T	C	17: 56,784,706 (GRCm38)	E329G	probably benign	Het
Scg2	T	C	1: 79,435,919 (GRCm38)	I322M	probably damaging	Het
Scly	T	A	1: 91,320,128 (GRCm38)	N399K	probably damaging	Het
Sec23b	T	A	2: 144,586,361 (GRCm38)		probably null	Het
Sephs2	A	T	7: 127,273,047 (GRCm38)	Y291*	probably null	Het
Slc45a3	T	C	1: 131,981,547 (GRCm38)	I494T	possibly damaging	Het
Slc6a21	C	A	7: 45,280,111 (GRCm38)	Y76*	probably null	Het
Slfn14	T	A	11: 83,276,272 (GRCm38)	I806L	possibly damaging	Het
Slfn4	T	A	11: 83,187,018 (GRCm38)	S211T	probably benign	Het
Sptbn4	A	G	7: 27,372,152 (GRCm38)	V1624A	probably damaging	Het
Sugp1	T	A	8: 70,071,184 (GRCm38)	M567K	probably damaging	Het
Tmem121	A	T	12: 113,188,728 (GRCm38)	M189L	probably benign	Het
Tmem201	A	G	4: 149,722,270 (GRCm38)	S444P	probably damaging	Het
Tmem63a	T	C	1: 180,973,186 (GRCm38)	V744A	probably benign	Het
Tnrc18	G	A	5: 142,731,625 (GRCm38)	S2358F	unknown	Het
Ubash3b	A	G	9: 41,018,109 (GRCm38)	V404A	probably benign	Het
Unc13c	A	T	9: 73,749,539 (GRCm38)	C1127S	probably damaging	Het
Unc5a	T	C	13: 54,997,229 (GRCm38)	V253A	probably benign	Het
Vmn1r-ps123	C	T	13: 22,996,365 (GRCm38)		noncoding transcript	Het
Wdr74	A	G	19: 8,739,485 (GRCm38)	E253G	possibly damaging	Het
Wwox	T	C	8: 114,448,248 (GRCm38)	Y107H	probably damaging	Het
Zdhhc22	A	T	12: 86,988,238 (GRCm38)	Y147N	probably damaging	Het
Zfp131	T	C	13: 119,788,955 (GRCm38)	H44R	possibly damaging	Het
Zfp235	A	G	7: 24,140,959 (GRCm38)	T268A	probably benign	Het
Zfp280d	T	C	9: 72,298,858 (GRCm38)		probably benign	Het
Zfp358	T	C	8: 3,496,170 (GRCm38)	S251P	probably damaging	Het

Other mutations in 4930562C15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00936:4930562C15Rik	APN	16	4,864,646 (GRCm38)	missense	probably benign	0.31
IGL01610:4930562C15Rik	APN	16	4,851,565 (GRCm38)	splice site	probably benign
IGL02869:4930562C15Rik	APN	16	4,867,459 (GRCm38)	missense	possibly damaging	0.68
IGL03242:4930562C15Rik	APN	16	4,849,325 (GRCm38)	missense	unknown
R0063:4930562C15Rik	UTSW	16	4,861,048 (GRCm38)	nonsense	probably null
R0063:4930562C15Rik	UTSW	16	4,861,048 (GRCm38)	nonsense	probably null
R0083:4930562C15Rik	UTSW	16	4,849,542 (GRCm38)	missense	unknown
R0565:4930562C15Rik	UTSW	16	4,864,336 (GRCm38)	missense	probably benign	0.22
R0630:4930562C15Rik	UTSW	16	4,850,939 (GRCm38)	missense	possibly damaging	0.90
R0734:4930562C15Rik	UTSW	16	4,850,334 (GRCm38)	missense	probably benign	0.01
R1200:4930562C15Rik	UTSW	16	4,849,672 (GRCm38)	missense	unknown
R1738:4930562C15Rik	UTSW	16	4,864,611 (GRCm38)	missense	probably damaging	1.00
R1775:4930562C15Rik	UTSW	16	4,851,558 (GRCm38)	splice site	probably null
R1945:4930562C15Rik	UTSW	16	4,835,685 (GRCm38)	missense	unknown
R2132:4930562C15Rik	UTSW	16	4,835,971 (GRCm38)	missense	unknown
R2445:4930562C15Rik	UTSW	16	4,864,397 (GRCm38)	splice site	probably null
R2696:4930562C15Rik	UTSW	16	4,850,364 (GRCm38)	missense	probably benign	0.04
R4729:4930562C15Rik	UTSW	16	4,849,323 (GRCm38)	missense	unknown
R4779:4930562C15Rik	UTSW	16	4,849,749 (GRCm38)	missense	unknown
R4806:4930562C15Rik	UTSW	16	4,849,672 (GRCm38)	missense	unknown
R4808:4930562C15Rik	UTSW	16	4,849,672 (GRCm38)	missense	unknown
R4931:4930562C15Rik	UTSW	16	4,861,046 (GRCm38)	missense	possibly damaging	0.47
R4956:4930562C15Rik	UTSW	16	4,854,952 (GRCm38)	missense	probably damaging	0.99
R5085:4930562C15Rik	UTSW	16	4,835,973 (GRCm38)	nonsense	probably null
R5203:4930562C15Rik	UTSW	16	4,835,598 (GRCm38)	missense	unknown
R5229:4930562C15Rik	UTSW	16	4,850,051 (GRCm38)	missense	possibly damaging	0.73
R5461:4930562C15Rik	UTSW	16	4,864,363 (GRCm38)	missense	probably damaging	1.00
R5462:4930562C15Rik	UTSW	16	4,864,363 (GRCm38)	missense	probably damaging	1.00
R5464:4930562C15Rik	UTSW	16	4,864,363 (GRCm38)	missense	probably damaging	1.00
R5595:4930562C15Rik	UTSW	16	4,864,279 (GRCm38)	missense	probably benign	0.01
R6054:4930562C15Rik	UTSW	16	4,835,865 (GRCm38)	missense	unknown
R6405:4930562C15Rik	UTSW	16	4,851,878 (GRCm38)	missense	probably damaging	0.97
R6859:4930562C15Rik	UTSW	16	4,851,935 (GRCm38)	missense	possibly damaging	0.86
R7124:4930562C15Rik	UTSW	16	4,864,332 (GRCm38)	missense	probably benign	0.02
R7139:4930562C15Rik	UTSW	16	4,850,184 (GRCm38)	missense	probably benign	0.00
R7182:4930562C15Rik	UTSW	16	4,849,714 (GRCm38)	missense	unknown
R7219:4930562C15Rik	UTSW	16	4,849,644 (GRCm38)	missense	unknown
R7366:4930562C15Rik	UTSW	16	4,835,769 (GRCm38)	missense	unknown
R7592:4930562C15Rik	UTSW	16	4,849,274 (GRCm38)	missense	unknown
R7759:4930562C15Rik	UTSW	16	4,864,650 (GRCm38)	missense	probably benign	0.01
R7789:4930562C15Rik	UTSW	16	4,864,311 (GRCm38)	missense	probably benign	0.01
R7873:4930562C15Rik	UTSW	16	4,866,227 (GRCm38)	missense	probably benign
R7916:4930562C15Rik	UTSW	16	4,864,590 (GRCm38)	nonsense	probably null
R8093:4930562C15Rik	UTSW	16	4,851,504 (GRCm38)	missense	possibly damaging	0.86
R8169:4930562C15Rik	UTSW	16	4,866,218 (GRCm38)	missense	probably benign	0.00
R8278:4930562C15Rik	UTSW	16	4,850,176 (GRCm38)	missense	probably benign	0.33
R8372:4930562C15Rik	UTSW	16	4,864,288 (GRCm38)	missense	probably damaging	0.99
R8493:4930562C15Rik	UTSW	16	4,835,589 (GRCm38)	start codon destroyed	unknown
R8549:4930562C15Rik	UTSW	16	4,863,197 (GRCm38)	critical splice donor site	probably null
R8947:4930562C15Rik	UTSW	16	4,847,428 (GRCm38)	missense	unknown
R9137:4930562C15Rik	UTSW	16	4,867,448 (GRCm38)	missense	probably benign
R9339:4930562C15Rik	UTSW	16	4,849,657 (GRCm38)	missense	unknown
R9422:4930562C15Rik	UTSW	16	4,849,289 (GRCm38)	missense
R9561:4930562C15Rik	UTSW	16	4,863,116 (GRCm38)	missense	possibly damaging	0.52
R9618:4930562C15Rik	UTSW	16	4,849,554 (GRCm38)	missense	unknown
R9747:4930562C15Rik	UTSW	16	4,850,847 (GRCm38)	missense	probably damaging	1.00
R9773:4930562C15Rik	UTSW	16	4,850,193 (GRCm38)	missense	possibly damaging	0.86
X0028:4930562C15Rik	UTSW	16	4,867,367 (GRCm38)	missense	possibly damaging	0.83
Z1176:4930562C15Rik	UTSW	16	4,866,248 (GRCm38)	missense	possibly damaging	0.54

Predicted Primers

Posted On

2016-03-17