Mutagenetix > Incidental Mutation

Incidental Mutation 'R1168:4930452B06Rik'

101378

Institutional Source

Beutler Lab

Gene Symbol

4930452B06Rik

Ensembl Gene

ENSMUSG00000021747

Gene Name

RIKEN cDNA 4930452B06 gene

Synonyms

MMRRC Submission

039241-MU

Accession Numbers

Essential gene?

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

Stock #

R1168 (G1)

Quality Score

158

Status

Not validated

Chromosome

Chromosomal Location

8431192-8666240 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8442939 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 610 (N610S)

Ref Sequence

ENSEMBL: ENSMUSP00000100061 (fasta)

Gene Model

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

AlphaFold

Q6P2K3

Predicted Effect

probably benign
Transcript: ENSMUST00000102996
AA Change: N610S

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100061
Gene: ENSMUSG00000021747
AA Change: N610S

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

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.2%
20x: 88.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,067,900 (GRCm38)	V950A	probably benign	Het
Adgrb3	A	T	1: 25,826,199 (GRCm38)	S188T	probably benign	Het
Ahr	A	T	12: 35,504,532 (GRCm38)	N529K	possibly damaging	Het
Akr1c21	A	G	13: 4,583,837 (GRCm38)	N302D	probably benign	Het
Aldh8a1	T	A	10: 21,384,631 (GRCm38)		probably null	Het
Alpk3	A	T	7: 81,103,357 (GRCm38)	K1554M	probably damaging	Het
Arhgef5	T	A	6: 43,273,396 (GRCm38)	H360Q	probably benign	Het
Cacna1a	A	G	8: 84,579,501 (GRCm38)	I1293V	probably damaging	Het
Cacna2d4	C	T	6: 119,307,286 (GRCm38)	R745W	probably damaging	Het
Cd200r4	T	A	16: 44,832,944 (GRCm38)	W72R	probably damaging	Het
Ces2e	A	T	8: 104,927,014 (GRCm38)	D28V	possibly damaging	Het
Cfap45	T	C	1: 172,545,697 (GRCm38)	Y534H	probably damaging	Het
Cfap54	A	T	10: 92,937,920 (GRCm38)	C87S	probably damaging	Het
Chmp7	C	T	14: 69,719,450 (GRCm38)	M336I	probably benign	Het
Chrna4	T	A	2: 181,034,138 (GRCm38)	M67L	possibly damaging	Het
Cts7	T	A	13: 61,353,817 (GRCm38)	N290Y	probably damaging	Het
Enpp6	A	T	8: 47,030,454 (GRCm38)	M94L	probably damaging	Het
Fam83d	C	T	2: 158,768,523 (GRCm38)	A137V	probably benign	Het
Foxd2	C	T	4: 114,907,678 (GRCm38)	A382T	possibly damaging	Het
Galnt11	T	G	5: 25,250,246 (GRCm38)	S193R	probably damaging	Het
Gapvd1	A	T	2: 34,704,469 (GRCm38)	D856E	probably damaging	Het
Gclm	T	A	3: 122,262,688 (GRCm38)	H86Q	possibly damaging	Het
Gipc2	T	C	3: 152,107,997 (GRCm38)	T220A	probably benign	Het
Gm12185	G	T	11: 48,915,355 (GRCm38)	N336K	possibly damaging	Het
Gm5431	A	T	11: 48,895,364 (GRCm38)	S61R	probably benign	Het
Gm884	T	C	11: 103,618,950 (GRCm38)		probably benign	Het
Gorasp2	C	T	2: 70,688,400 (GRCm38)	P260S	probably damaging	Het
H2-M10.6	A	G	17: 36,813,160 (GRCm38)	Q172R	probably benign	Het
Ibsp	A	G	5: 104,302,152 (GRCm38)	I6V	probably damaging	Het
Iqsec1	T	C	6: 90,689,676 (GRCm38)	Y593C	probably damaging	Het
Itln1	G	T	1: 171,531,551 (GRCm38)	Y61*	probably null	Het
Kif21a	G	A	15: 90,993,753 (GRCm38)	T284I	probably damaging	Het
Kif3a	G	A	11: 53,598,312 (GRCm38)	G621R	probably damaging	Het
Klb	A	G	5: 65,378,974 (GRCm38)	Y549C	probably damaging	Het
Lman1l	G	A	9: 57,608,312 (GRCm38)	R427C	probably benign	Het
Map4	T	C	9: 110,034,964 (GRCm38)	V419A	probably benign	Het
Mastl	A	T	2: 23,133,132 (GRCm38)	D526E	probably benign	Het
Mrvi1	T	C	7: 110,895,931 (GRCm38)	K429R	probably damaging	Het
Mtif2	A	G	11: 29,536,914 (GRCm38)	D308G	probably benign	Het
Ncald	A	G	15: 37,397,334 (GRCm38)	F34S	probably damaging	Het
Ndc1	A	G	4: 107,395,812 (GRCm38)	T593A	probably benign	Het
Ndst3	C	T	3: 123,606,968 (GRCm38)	V15I	probably benign	Het
Nup214	A	G	2: 32,025,301 (GRCm38)	N1166D	probably benign	Het
Olfr1031	A	T	2: 85,992,684 (GRCm38)	Y289F	probably damaging	Het
Olfr1240	G	A	2: 89,439,869 (GRCm38)	Q137*	probably null	Het
Olfr1368	A	G	13: 21,142,617 (GRCm38)	S147P	probably benign	Het
Olfr403	A	G	11: 74,196,421 (GRCm38)	H306R	probably benign	Het
Pcdhb8	T	C	18: 37,356,727 (GRCm38)	I486T	probably benign	Het
Pdzrn4	A	T	15: 92,770,271 (GRCm38)	Y768F	probably benign	Het
Pgf	A	G	12: 85,171,767 (GRCm38)	S70P	probably benign	Het
Plcl2	G	A	17: 50,607,072 (GRCm38)	A370T	possibly damaging	Het
Pnkp	T	A	7: 44,862,537 (GRCm38)	W115R	probably benign	Het
Ppp1r16a	C	T	15: 76,693,669 (GRCm38)	Q328*	probably null	Het
Prag1	A	G	8: 36,146,645 (GRCm38)	E1117G	probably damaging	Het
Prr12	T	A	7: 45,029,047 (GRCm38)	Q1919L	unknown	Het
Ret	G	T	6: 118,173,558 (GRCm38)	H666N	possibly damaging	Het
Rfwd3	C	T	8: 111,288,242 (GRCm38)	R326Q	probably damaging	Het
Robo2	C	T	16: 73,948,296 (GRCm38)	G864S	probably damaging	Het
Rpa2	T	G	4: 132,771,860 (GRCm38)	I80S	probably damaging	Het
Ryk	A	T	9: 102,898,475 (GRCm38)	D428V	probably damaging	Het
Slc29a1	A	T	17: 45,590,278 (GRCm38)	N30K	probably damaging	Het
Stbd1	A	G	5: 92,604,936 (GRCm38)	N95S	probably benign	Het
Tbc1d22a	A	G	15: 86,292,134 (GRCm38)	E212G	probably benign	Het
Tex14	A	G	11: 87,536,742 (GRCm38)	T7A	probably benign	Het
Tmc8	T	C	11: 117,792,563 (GRCm38)	V648A	possibly damaging	Het
Tmem132b	G	T	5: 125,787,019 (GRCm38)	V730F	probably damaging	Het
Tmub2	G	A	11: 102,287,370 (GRCm38)	G33D	possibly damaging	Het
Trak1	G	A	9: 121,440,679 (GRCm38)	D124N	probably damaging	Het
Ttc28	A	T	5: 111,231,111 (GRCm38)	Y1154F	probably damaging	Het
Ttn	T	C	2: 76,909,369 (GRCm38)	T3609A	probably benign	Het
Tulp2	A	G	7: 45,517,842 (GRCm38)	T99A	probably benign	Het
Ugt2a2	A	T	5: 87,465,568 (GRCm38)		probably null	Het
Ush2a	G	A	1: 188,678,411 (GRCm38)	V2419I	probably benign	Het
Vill	C	A	9: 119,070,321 (GRCm38)	P343Q	probably damaging	Het
Vmn2r66	T	A	7: 85,006,854 (GRCm38)	H318L	possibly damaging	Het
Wdr3	A	C	3: 100,142,219 (GRCm38)	N800K	probably benign	Het
Wdr93	A	G	7: 79,749,174 (GRCm38)	K19E	probably damaging	Het
Wrn	A	G	8: 33,316,408 (GRCm38)	S333P	probably damaging	Het
Zfp418	T	C	7: 7,182,501 (GRCm38)	S488P	possibly damaging	Het
Zfp804a	A	G	2: 82,256,697 (GRCm38)	E290G	probably benign	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
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
R4471:4930452B06Rik	UTSW	14	8,536,571 (GRCm38)	missense	probably damaging	1.00
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

Posted On

2014-01-15