Mutagenetix > Incidental Mutation

Incidental Mutation 'R9411:B020011L13Rik'

711784

Institutional Source

Beutler Lab

Gene Symbol

B020011L13Rik

Ensembl Gene

ENSMUSG00000101303

Gene Name

RIKEN cDNA B020011L13 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R9411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

117708865-117731089 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 117729246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 251 (G251E)

Ref Sequence

ENSEMBL: ENSMUSP00000140211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000188801]

AlphaFold

A0A087WQI7

Predicted Effect

probably benign
Transcript: ENSMUST00000188801
AA Change: G251E

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000140211
Gene: ENSMUSG00000101303
AA Change: G251E

Domain	Start	End	E-Value	Type
KRAB	8	66	6.9e-26	SMART
ZnF_C2H2	77	99	8.3e-6	SMART
ZnF_C2H2	105	127	1.8e-5	SMART
ZnF_C2H2	133	155	8.7e-4	SMART
ZnF_C2H2	161	183	2.1e-4	SMART
ZnF_C2H2	189	211	1.1e-7	SMART
ZnF_C2H2	217	239	4e-5	SMART
ZnF_C2H2	245	267	1.6e-7	SMART
ZnF_C2H2	273	295	5.4e-7	SMART
ZnF_C2H2	301	323	5.1e-4	SMART
ZnF_C2H2	329	351	1.1e-1	SMART
ZnF_C2H2	357	379	3.4e-6	SMART
ZnF_C2H2	385	407	3.2e-7	SMART

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	G	A	13: 91,919,919 (GRCm39)	A285T	probably damaging	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Atg7	T	A	6: 114,690,289 (GRCm39)	M650K	probably benign	Het
Bhlha9	T	C	11: 76,564,018 (GRCm39)	V215A	probably benign	Het
Bmal1	C	A	7: 112,907,837 (GRCm39)	S513*	probably null	Het
C2cd3	T	C	7: 100,065,704 (GRCm39)	V452A		Het
Cd55	G	A	1: 130,368,114 (GRCm39)	H370Y	probably benign	Het
Col6a1	A	G	10: 76,547,487 (GRCm39)	V662A	unknown	Het
Crocc	A	G	4: 140,749,577 (GRCm39)		probably null	Het
Cspg4b	T	A	13: 113,504,767 (GRCm39)	N1965K		Het
Dnah1	C	T	14: 31,018,256 (GRCm39)	V1421M	probably damaging	Het
Eid3	T	G	10: 82,703,652 (GRCm39)	I371S	probably damaging	Het
Flnc	G	A	6: 29,441,484 (GRCm39)	R422Q	probably benign	Het
Fshr	T	C	17: 89,293,148 (GRCm39)	Y510C	probably damaging	Het
Garem1	C	T	18: 21,369,057 (GRCm39)		probably null	Het
Gcn1	C	T	5: 115,733,098 (GRCm39)	T1045M	possibly damaging	Het
Ggt6	T	A	11: 72,326,560 (GRCm39)	L39H	probably damaging	Het
Glrb	T	C	3: 80,767,610 (GRCm39)		probably null	Het
Gpr171	T	A	3: 59,005,311 (GRCm39)	K155*	probably null	Het
Has2	T	A	15: 56,531,306 (GRCm39)	T470S	possibly damaging	Het
Ighv1-34	C	T	12: 114,815,070 (GRCm39)	V31M	probably damaging	Het
Kdm2a	A	T	19: 4,412,835 (GRCm39)	N50K	probably damaging	Het
Mfsd9	C	T	1: 40,829,692 (GRCm39)	V30M	probably damaging	Het
Msra	A	G	14: 64,471,331 (GRCm39)	I126T	probably benign	Het
Nkd2	G	A	13: 73,969,330 (GRCm39)	L379F	probably benign	Het
Nr2f2	A	C	7: 70,007,525 (GRCm39)	V319G		Het
Ntng2	A	T	2: 29,138,048 (GRCm39)	L2Q	probably damaging	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Pcnt	T	C	10: 76,258,896 (GRCm39)	E523G	probably damaging	Het
Pllp	C	T	8: 95,402,868 (GRCm39)	A158T	probably benign	Het
Plxna4	A	G	6: 32,159,682 (GRCm39)	S1431P	probably damaging	Het
Pramel16	A	T	4: 143,676,215 (GRCm39)	F296L	probably damaging	Het
Pramel31	A	G	4: 144,089,997 (GRCm39)	I346V	probably benign	Het
Prpf40a	T	C	2: 53,029,200 (GRCm39)	D951G	unknown	Het
Retn	G	A	8: 3,707,378 (GRCm39)	A113T	probably benign	Het
Rexo1	G	T	10: 80,397,248 (GRCm39)	R3S		Het
Rras	T	A	7: 44,669,979 (GRCm39)	I137N	possibly damaging	Het
Rsf1	A	AAGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Sntb2	A	G	8: 107,737,931 (GRCm39)	D493G	probably damaging	Het
Socs5	T	C	17: 87,442,521 (GRCm39)	I487T	possibly damaging	Het
Spryd3	A	G	15: 102,027,843 (GRCm39)	Y235H	probably damaging	Het
Suco	T	A	1: 161,666,356 (GRCm39)	I515F	probably damaging	Het
Syn2	T	C	6: 115,231,152 (GRCm39)	V269A	possibly damaging	Het
Tmbim6	T	C	15: 99,304,501 (GRCm39)	L186P	probably damaging	Het
Tmem234	T	C	4: 129,495,988 (GRCm39)	Y57H	probably damaging	Het
Tnik	C	A	3: 28,684,754 (GRCm39)	P861T	probably damaging	Het
Tns1	A	G	1: 73,992,662 (GRCm39)	L45P	probably damaging	Het
Veph1	T	A	3: 65,995,238 (GRCm39)	D671V	possibly damaging	Het
Vwc2l	A	T	1: 70,767,980 (GRCm39)	I15F	probably benign	Het
Zdbf2	A	T	1: 63,343,288 (GRCm39)	N556Y	probably damaging	Het
Zfp202	T	A	9: 40,118,878 (GRCm39)	V97D	probably damaging	Het
Zfp800	T	C	6: 28,243,430 (GRCm39)	I512V	possibly damaging	Het
Zkscan2	T	C	7: 123,084,405 (GRCm39)	D573G	probably damaging	Het

Other mutations in B020011L13Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03058:B020011L13Rik	APN	1	117,710,699 (GRCm39)	missense	possibly damaging	0.77
R6340:B020011L13Rik	UTSW	1	117,729,614 (GRCm39)	missense	probably benign	0.00
R6785:B020011L13Rik	UTSW	1	117,728,799 (GRCm39)	missense	possibly damaging	0.78
R6857:B020011L13Rik	UTSW	1	117,729,018 (GRCm39)	missense	probably benign	0.00
R7027:B020011L13Rik	UTSW	1	117,729,180 (GRCm39)	missense	probably benign	0.38
R7210:B020011L13Rik	UTSW	1	117,729,241 (GRCm39)	missense	possibly damaging	0.57
R7246:B020011L13Rik	UTSW	1	117,728,969 (GRCm39)	nonsense	probably null
R7513:B020011L13Rik	UTSW	1	117,729,149 (GRCm39)	missense	probably damaging	1.00
R7914:B020011L13Rik	UTSW	1	117,729,162 (GRCm39)	missense	probably benign	0.00
R8202:B020011L13Rik	UTSW	1	117,728,874 (GRCm39)	missense	probably damaging	1.00
R8534:B020011L13Rik	UTSW	1	117,729,034 (GRCm39)	missense	probably benign	0.02
R9477:B020011L13Rik	UTSW	1	117,728,903 (GRCm39)	nonsense	probably null
R9488:B020011L13Rik	UTSW	1	117,728,724 (GRCm39)	missense
R9615:B020011L13Rik	UTSW	1	117,729,462 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGCTCACTGCAGACTTTC -3'
(R):5'- TCCCCACAATCATTACATTTGCAAG -3'

Sequencing Primer
(F):5'- GTTCACCACAGATTACATACTGGAG -3'
(R):5'- TGCAAGGTTTGTCCCCAG -3'

Posted On

2022-05-16