Mutagenetix > Incidental Mutation

Incidental Mutation 'R7812:1700017B05Rik'

601234

Institutional Source

Beutler Lab

Gene Symbol

1700017B05Rik

Ensembl Gene

ENSMUSG00000032300

Gene Name

RIKEN cDNA 1700017B05 gene

Synonyms

D9Ertd278e

MMRRC Submission

045867-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R7812 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57160400-57169895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 57165141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 411 (C411F)

Ref Sequence

ENSEMBL: ENSMUSP00000034846 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034846] [ENSMUST00000213199] [ENSMUST00000215298] [ENSMUST00000217657]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034846
AA Change: C411F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034846
Gene: ENSMUSG00000032300
AA Change: C411F

Domain	Start	End	E-Value	Type
low complexity region	265	284	N/A	INTRINSIC
low complexity region	293	299	N/A	INTRINSIC
low complexity region	334	347	N/A	INTRINSIC
low complexity region	649	675	N/A	INTRINSIC
low complexity region	692	728	N/A	INTRINSIC
low complexity region	785	799	N/A	INTRINSIC
low complexity region	933	951	N/A	INTRINSIC
low complexity region	963	977	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000213199
AA Change: C411F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000215298

Predicted Effect

probably benign
Transcript: ENSMUST00000217657

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17c	G	T	7: 83,800,624 (GRCm39)	Y143*	probably null	Het
Acad11	T	G	9: 103,972,747 (GRCm39)	L480R	probably benign	Het
Acad8	A	T	9: 26,890,476 (GRCm39)	N277K	probably damaging	Het
Adcy10	A	G	1: 165,342,938 (GRCm39)	Y268C	probably damaging	Het
Adm2	A	T	15: 89,208,367 (GRCm39)	R102S	possibly damaging	Het
Ambra1	A	T	2: 91,596,911 (GRCm39)	M1L	probably benign	Het
Angpt2	T	C	8: 18,742,161 (GRCm39)	N465S	probably benign	Het
Arhgap17	T	C	7: 122,879,290 (GRCm39)	I820M	unknown	Het
Atf7ip	G	A	6: 136,580,415 (GRCm39)	R1113Q	probably damaging	Het
Atp5pb	A	G	3: 105,851,157 (GRCm39)	V180A	probably benign	Het
Auts2	C	T	5: 131,501,284 (GRCm39)	R43H		Het
Cacna1g	A	T	11: 94,334,880 (GRCm39)	I809N	probably benign	Het
Cand1	A	T	10: 119,053,864 (GRCm39)	M158K	probably benign	Het
Cars1	T	A	7: 143,123,784 (GRCm39)	I500F	probably damaging	Het
Ccdc18	T	A	5: 108,328,699 (GRCm39)	M706K	probably benign	Het
Ccdc180	G	A	4: 45,906,952 (GRCm39)		probably null	Het
Ces1f	A	G	8: 93,984,938 (GRCm39)	V463A	probably benign	Het
Cndp1	G	T	18: 84,655,994 (GRCm39)	D58E	probably benign	Het
Csnk2b	A	T	17: 35,339,431 (GRCm39)	F21Y	probably benign	Het
Dgkg	C	G	16: 22,385,165 (GRCm39)	R447T	probably damaging	Het
Dnajc12	A	G	10: 63,242,905 (GRCm39)	D141G	probably benign	Het
Edar	A	G	10: 58,465,926 (GRCm39)	V4A	probably benign	Het
Elf1	A	G	14: 79,802,998 (GRCm39)	D117G	probably damaging	Het
Fam124b	T	C	1: 80,191,351 (GRCm39)	T11A	probably damaging	Het
Fgl2	C	A	5: 21,577,896 (GRCm39)	T61K	probably benign	Het
Furin	T	C	7: 80,045,722 (GRCm39)	N218S	possibly damaging	Het
Gcn1	T	A	5: 115,731,751 (GRCm39)	H955Q	possibly damaging	Het
Gucy2e	A	G	11: 69,117,069 (GRCm39)	I784T	probably damaging	Het
Ice1	T	A	13: 70,751,124 (GRCm39)	Q1654L	possibly damaging	Het
Klhl28	T	C	12: 64,990,363 (GRCm39)	N526S	possibly damaging	Het
Ldlrad4	C	A	18: 68,239,742 (GRCm39)	P54Q	probably benign	Het
Lsm14a	A	G	7: 34,088,301 (GRCm39)		probably benign	Het
Mdga1	A	G	17: 30,062,115 (GRCm39)	V438A	probably benign	Het
Mrto4	A	G	4: 139,075,278 (GRCm39)	V175A	possibly damaging	Het
Nav2	T	G	7: 49,246,921 (GRCm39)	S2149A	probably benign	Het
Nr4a2	A	G	2: 57,002,430 (GRCm39)	Y8H	probably damaging	Het
Or10q12	T	C	19: 13,746,380 (GRCm39)	F225L	probably benign	Het
Or1j12	T	A	2: 36,343,290 (GRCm39)	I231N	probably benign	Het
Or1j18	A	T	2: 36,624,737 (GRCm39)	M135L	probably benign	Het
Or52e4	T	C	7: 104,705,894 (GRCm39)	L147P	possibly damaging	Het
Oxr1	T	A	15: 41,615,138 (GRCm39)	M1K	probably null	Het
Pbx3	T	C	2: 34,114,478 (GRCm39)	Y152C	probably damaging	Het
Pcdhb13	T	A	18: 37,575,645 (GRCm39)	C8S	probably benign	Het
Polr1c	G	A	17: 46,557,053 (GRCm39)	R77W	probably damaging	Het
Psg25	A	T	7: 18,255,093 (GRCm39)	N474K	possibly damaging	Het
Ralgapa1	T	A	12: 55,766,413 (GRCm39)	M838L	possibly damaging	Het
Ranbp2	A	G	10: 58,303,224 (GRCm39)	T799A	probably benign	Het
Sbf2	C	T	7: 110,049,170 (GRCm39)	V265I	possibly damaging	Het
Scarf2	G	A	16: 17,621,692 (GRCm39)	G381R	probably damaging	Het
Shprh	A	G	10: 11,027,735 (GRCm39)	Q114R	probably benign	Het
Sipa1l2	A	C	8: 126,218,334 (GRCm39)	D334E	probably damaging	Het
Slc26a4	T	A	12: 31,594,449 (GRCm39)	I300F	probably damaging	Het
Sox7	C	T	14: 64,185,681 (GRCm39)	T239I	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
St6galnac1	G	T	11: 116,659,927 (GRCm39)	H129N	probably benign	Het
Stxbp4	A	G	11: 90,485,654 (GRCm39)	L231P	probably damaging	Het
Syngap1	A	C	17: 27,160,478 (GRCm39)	Y18S	probably benign	Het
Tenm3	T	C	8: 48,729,335 (GRCm39)	Y1557C	probably benign	Het
Trim44	G	T	2: 102,230,489 (GRCm39)	P181T	possibly damaging	Het
Trp53i13	A	T	11: 77,399,666 (GRCm39)	V221D	possibly damaging	Het
Trpm7	A	G	2: 126,641,236 (GRCm39)	S1554P	probably damaging	Het
Vcl	A	G	14: 21,045,158 (GRCm39)	N288D	probably benign	Het
Vmn2r59	A	T	7: 41,695,196 (GRCm39)	Y405*	probably null	Het
Vps35	T	C	8: 86,010,818 (GRCm39)	D175G	probably benign	Het
Wdr90	A	T	17: 26,071,532 (GRCm39)	L949Q	probably damaging	Het
Wwp1	G	A	4: 19,639,991 (GRCm39)	T517I	probably damaging	Het
Zfp462	T	G	4: 55,008,509 (GRCm39)	F158L	probably benign	Het
Zfp703	T	A	8: 27,469,906 (GRCm39)	H523Q	probably damaging	Het

Other mutations in 1700017B05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:1700017B05Rik	APN	9	57,165,529 (GRCm39)	missense	probably damaging	1.00
IGL01287:1700017B05Rik	APN	9	57,165,040 (GRCm39)	missense	probably damaging	1.00
IGL01798:1700017B05Rik	APN	9	57,163,921 (GRCm39)	missense	probably benign	0.10
IGL01933:1700017B05Rik	APN	9	57,164,650 (GRCm39)	missense	possibly damaging	0.95
IGL02146:1700017B05Rik	APN	9	57,164,023 (GRCm39)	missense	possibly damaging	0.82
IGL02158:1700017B05Rik	APN	9	57,163,902 (GRCm39)	splice site	probably null
IGL02277:1700017B05Rik	APN	9	57,165,708 (GRCm39)	missense	probably benign	0.05
IGL02707:1700017B05Rik	APN	9	57,165,928 (GRCm39)	missense	probably benign
IGL02887:1700017B05Rik	APN	9	57,166,168 (GRCm39)	missense	probably damaging	1.00
IGL02936:1700017B05Rik	APN	9	57,165,687 (GRCm39)	missense	possibly damaging	0.69
R0583:1700017B05Rik	UTSW	9	57,164,926 (GRCm39)	missense	probably benign	0.04
R0926:1700017B05Rik	UTSW	9	57,164,832 (GRCm39)	missense	probably damaging	0.99
R1812:1700017B05Rik	UTSW	9	57,164,740 (GRCm39)	nonsense	probably null
R1903:1700017B05Rik	UTSW	9	57,165,635 (GRCm39)	missense	possibly damaging	0.69
R4542:1700017B05Rik	UTSW	9	57,163,875 (GRCm39)	missense	probably damaging	1.00
R4596:1700017B05Rik	UTSW	9	57,165,088 (GRCm39)	missense	probably benign	0.03
R4631:1700017B05Rik	UTSW	9	57,165,270 (GRCm39)	missense	probably damaging	1.00
R4869:1700017B05Rik	UTSW	9	57,161,488 (GRCm39)	missense	probably damaging	1.00
R5265:1700017B05Rik	UTSW	9	57,166,177 (GRCm39)	missense	probably damaging	1.00
R5361:1700017B05Rik	UTSW	9	57,164,468 (GRCm39)	missense	probably damaging	1.00
R6216:1700017B05Rik	UTSW	9	57,164,910 (GRCm39)	missense	probably benign	0.33
R6356:1700017B05Rik	UTSW	9	57,161,292 (GRCm39)	missense	probably benign	0.11
R6579:1700017B05Rik	UTSW	9	57,161,507 (GRCm39)	missense	possibly damaging	0.89
R6774:1700017B05Rik	UTSW	9	57,163,908 (GRCm39)	missense	probably damaging	1.00
R6921:1700017B05Rik	UTSW	9	57,166,019 (GRCm39)	missense	probably damaging	1.00
R7089:1700017B05Rik	UTSW	9	57,166,041 (GRCm39)	missense	probably damaging	1.00
R7196:1700017B05Rik	UTSW	9	57,165,505 (GRCm39)	frame shift	probably null
R7197:1700017B05Rik	UTSW	9	57,165,505 (GRCm39)	frame shift	probably null
R7728:1700017B05Rik	UTSW	9	57,163,822 (GRCm39)	missense	probably damaging	1.00
R7770:1700017B05Rik	UTSW	9	57,165,894 (GRCm39)	missense	probably damaging	0.99
R8141:1700017B05Rik	UTSW	9	57,165,688 (GRCm39)	missense	probably benign
R8144:1700017B05Rik	UTSW	9	57,166,388 (GRCm39)	start gained	probably benign
R8925:1700017B05Rik	UTSW	9	57,165,805 (GRCm39)	nonsense	probably null
R8927:1700017B05Rik	UTSW	9	57,165,805 (GRCm39)	nonsense	probably null
R9186:1700017B05Rik	UTSW	9	57,164,472 (GRCm39)	missense	probably damaging	0.99
R9194:1700017B05Rik	UTSW	9	57,166,371 (GRCm39)	start codon destroyed	probably null	1.00
R9299:1700017B05Rik	UTSW	9	57,163,792 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- AACTGGACTGTCCCGGATAAC -3'
(R):5'- GATAGACAGTTATTCCTACTCCTCTG -3'

Sequencing Primer
(F):5'- CTGGACTGTCCCGGATAACAATAG -3'
(R):5'- AAACTGGAGCCCCCTCTTG -3'

Posted On

2019-11-26