Mutagenetix > Incidental Mutation

Incidental Mutation 'R8875:D630039A03Rik'

676511

Institutional Source

Beutler Lab

Gene Symbol

D630039A03Rik

Ensembl Gene

ENSMUSG00000052117

Gene Name

RIKEN cDNA D630039A03 gene

Synonyms

MMRRC Submission

068687-MU

Accession Numbers

Essential gene?

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

Stock #

R8875 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57908483-57916297 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 57910320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 164 (N164T)

Ref Sequence

ENSEMBL: ENSMUSP00000068932 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063816]

AlphaFold

Q8K0M7

Predicted Effect

probably benign
Transcript: ENSMUST00000063816
AA Change: N164T

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010K14Rik	A	G	11: 70,126,380 (GRCm39)	V140A		Het
Ablim1	G	T	19: 57,119,386 (GRCm39)	H233N	probably benign	Het
Adra1a	A	T	14: 66,875,214 (GRCm39)	Y63F	possibly damaging	Het
Ank3	A	G	10: 69,660,233 (GRCm39)	D245G	unknown	Het
Ap4e1	T	C	2: 126,877,100 (GRCm39)	I279T	probably damaging	Het
Bap1	T	G	14: 30,975,522 (GRCm39)	F122C	probably damaging	Het
Cdc5l	T	C	17: 45,703,915 (GRCm39)		probably benign	Het
Chd2	A	T	7: 73,151,783 (GRCm39)	I309N	probably damaging	Het
Cnpy3	T	C	17: 47,048,185 (GRCm39)	I177V	probably damaging	Het
Cp	A	G	3: 20,027,994 (GRCm39)	K467E	possibly damaging	Het
Dnah7a	C	A	1: 53,682,682 (GRCm39)	A263S	probably benign	Het
Eif2s1	G	A	12: 78,913,461 (GRCm39)	R54Q	probably damaging	Het
Fasn	A	T	11: 120,703,224 (GRCm39)	D1600E	possibly damaging	Het
Fat1	T	A	8: 45,493,600 (GRCm39)	F3915L	probably damaging	Het
Fiz1	A	T	7: 5,012,093 (GRCm39)	S142T	probably benign	Het
Fnip1	A	G	11: 54,406,380 (GRCm39)	Y1159C	probably damaging	Het
Fsip2	T	A	2: 82,820,782 (GRCm39)	V5505D	possibly damaging	Het
Gabrg3	A	G	7: 56,379,514 (GRCm39)	M296T	probably damaging	Het
Gm11562	A	T	11: 99,511,177 (GRCm39)	S8T	unknown	Het
Hoxd11	A	G	2: 74,513,365 (GRCm39)	D210G	probably benign	Het
Hsd17b2	T	C	8: 118,469,101 (GRCm39)	V171A	possibly damaging	Het
Ifi206	T	C	1: 173,301,353 (GRCm39)	Y775C	unknown	Het
Nherf2	T	A	17: 24,866,703 (GRCm39)		probably null	Het
Nr2f1	A	C	13: 78,337,970 (GRCm39)	I382S	probably damaging	Het
Nrp1	T	A	8: 129,207,472 (GRCm39)		probably null	Het
Or51l4	G	A	7: 103,404,462 (GRCm39)	S110F	probably damaging	Het
Or52h7	A	G	7: 104,213,670 (GRCm39)	T81A	probably benign	Het
Pdcd1	C	T	1: 93,967,092 (GRCm39)	D269N	probably benign	Het
Pira12	A	G	7: 3,897,256 (GRCm39)	S527P	probably damaging	Het
Plbd2	A	G	5: 120,637,121 (GRCm39)	Y114H	probably damaging	Het
Plch1	A	G	3: 63,618,391 (GRCm39)	C715R	probably damaging	Het
Plin4	G	A	17: 56,411,010 (GRCm39)	A1007V	probably benign	Het
Ptprs	G	T	17: 56,742,946 (GRCm39)	P399T	probably damaging	Het
Pum1	T	A	4: 130,507,186 (GRCm39)	I1181N	possibly damaging	Het
Qrich1	A	G	9: 108,436,502 (GRCm39)		probably benign	Het
Rbm12	T	C	2: 155,938,841 (GRCm39)	E477G	probably damaging	Het
Rpl7	T	C	1: 16,173,753 (GRCm39)	K57R	probably benign	Het
Spata31h1	G	A	10: 82,123,476 (GRCm39)	A3178V	probably benign	Het
Stab2	C	T	10: 86,832,728 (GRCm39)	C99Y	probably damaging	Het
Tas1r1	T	A	4: 152,113,047 (GRCm39)	T669S	probably benign	Het
Tle5	A	T	10: 81,400,534 (GRCm39)	I73F	probably benign	Het
Tm2d2	T	C	8: 25,507,443 (GRCm39)	L20P	possibly damaging	Het
Tmem158	G	T	9: 123,089,132 (GRCm39)	A160E	possibly damaging	Het
Tpst2	T	A	5: 112,457,714 (GRCm39)	Y347*	probably null	Het
Trpm3	T	C	19: 22,887,493 (GRCm39)	I876T	probably damaging	Het
Ttc6	T	C	12: 57,751,199 (GRCm39)	F1364L	probably damaging	Het
Ttc6	T	A	12: 57,776,194 (GRCm39)	S1713T	possibly damaging	Het
Vmn2r85	A	G	10: 130,254,171 (GRCm39)	S838P	probably damaging	Het
Zc2hc1c	T	C	12: 85,336,549 (GRCm39)	S69P	possibly damaging	Het
Zfp982	C	A	4: 147,595,320 (GRCm39)	N47K	probably benign	Het

Other mutations in D630039A03Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01666:D630039A03Rik	APN	4	57,910,570 (GRCm39)	missense	possibly damaging	0.86
IGL02071:D630039A03Rik	APN	4	57,910,309 (GRCm39)	missense	possibly damaging	0.94
IGL03338:D630039A03Rik	APN	4	57,910,509 (GRCm39)	missense	probably benign	0.12
R1828:D630039A03Rik	UTSW	4	57,910,240 (GRCm39)	missense	probably benign	0.02
R2883:D630039A03Rik	UTSW	4	57,910,560 (GRCm39)	missense	probably damaging	1.00
R3874:D630039A03Rik	UTSW	4	57,910,606 (GRCm39)	missense	probably benign	0.27
R3875:D630039A03Rik	UTSW	4	57,910,606 (GRCm39)	missense	probably benign	0.27
R4776:D630039A03Rik	UTSW	4	57,910,452 (GRCm39)	missense	possibly damaging	0.72
R5152:D630039A03Rik	UTSW	4	57,910,434 (GRCm39)	missense	probably damaging	1.00
R7003:D630039A03Rik	UTSW	4	57,910,521 (GRCm39)	missense	probably damaging	0.97
R8162:D630039A03Rik	UTSW	4	57,910,525 (GRCm39)	missense	probably benign	0.02
R9168:D630039A03Rik	UTSW	4	57,910,113 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCATATAAGCCCAGGTTC -3'
(R):5'- TCACCAGAGGAGACAGACTC -3'

Sequencing Primer
(F):5'- ATATAAGCCCAGGTTCCGGGC -3'
(R):5'- AGACTCCGAGGCTGAGG -3'

Posted On

2021-07-15