Mutagenetix > Incidental Mutation

Incidental Mutation 'R8202:B020011L13Rik'

635694

Institutional Source

Beutler Lab

Gene Symbol

B020011L13Rik

Ensembl Gene

ENSMUSG00000101303

Gene Name

RIKEN cDNA B020011L13 gene

Synonyms

MMRRC Submission

067625-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R8202 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117708865-117731089 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117728874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 127 (H127L)

Ref Sequence

ENSEMBL: ENSMUSP00000140211 (fasta)

Gene Model

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

AlphaFold

A0A087WQI7

Predicted Effect

probably damaging
Transcript: ENSMUST00000188801
AA Change: H127L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140211
Gene: ENSMUSG00000101303
AA Change: H127L

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

Meta Mutation Damage Score

0.1499

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 35,817,057 (GRCm39)	R36C	probably benign	Het
B4galt4	A	G	16: 38,588,274 (GRCm39)	Q306R	probably benign	Het
Bckdha	G	A	7: 25,329,738 (GRCm39)	H431Y	probably damaging	Het
Cacna1e	T	A	1: 154,274,195 (GRCm39)	M2256L	probably benign	Het
Ccar1	A	T	10: 62,607,768 (GRCm39)	F298L	possibly damaging	Het
Ceacam3	G	A	7: 16,896,953 (GRCm39)	A640T		Het
Cers3	A	G	7: 66,435,761 (GRCm39)	D240G	probably damaging	Het
Ces1d	T	C	8: 93,919,495 (GRCm39)	E99G	probably benign	Het
Dnah2	A	G	11: 69,369,649 (GRCm39)	V1609A	probably benign	Het
Fer1l6	T	C	15: 58,502,486 (GRCm39)	F1329S	probably damaging	Het
Fry	A	G	5: 150,355,202 (GRCm39)	Q1825R	probably damaging	Het
Guf1	C	A	5: 69,720,545 (GRCm39)	A335E	possibly damaging	Het
Heatr6	C	A	11: 83,650,234 (GRCm39)	T230K	possibly damaging	Het
Klhl11	G	A	11: 100,354,150 (GRCm39)	S557L	probably benign	Het
Map10	A	G	8: 126,397,647 (GRCm39)	N347D	possibly damaging	Het
Myh7	T	C	14: 55,227,497 (GRCm39)	I313V	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nmral1	G	A	16: 4,532,448 (GRCm39)	T131M	probably damaging	Het
Npr1	T	A	3: 90,368,731 (GRCm39)	Y443F	probably benign	Het
Ntn4	A	G	10: 93,480,765 (GRCm39)	N163S	possibly damaging	Het
Nufip1	A	G	14: 76,348,604 (GRCm39)	I78V	probably benign	Het
Oplah	C	T	15: 76,186,669 (GRCm39)	G670D	probably benign	Het
Or51a24	A	G	7: 103,734,198 (GRCm39)	S30P	probably benign	Het
Or5j3	A	T	2: 86,128,968 (GRCm39)	E269D	probably benign	Het
Or6c69b	T	C	10: 129,626,518 (GRCm39)	*313W	probably null	Het
Pcnx1	T	G	12: 81,941,821 (GRCm39)	I73S	probably benign	Het
Pigp	A	T	16: 94,165,528 (GRCm39)	N204K	probably benign	Het
Prelid2	T	A	18: 42,065,802 (GRCm39)	I78F	possibly damaging	Het
Ptprb	A	G	10: 116,189,750 (GRCm39)	Y1516C	probably damaging	Het
Rab31	T	C	17: 65,974,881 (GRCm39)	E157G	probably damaging	Het
Rars2	T	C	4: 34,656,180 (GRCm39)	Y445H	probably damaging	Het
Rnf220	T	A	4: 117,347,070 (GRCm39)	H114L	probably damaging	Het
Ryr1	A	G	7: 28,790,457 (GRCm39)	W1450R	probably benign	Het
Slamf6	A	G	1: 171,761,786 (GRCm39)	Y69C	probably benign	Het
Smc3	T	C	19: 53,617,123 (GRCm39)	I512T	possibly damaging	Het
Sspo	A	G	6: 48,434,534 (GRCm39)	T1009A	probably damaging	Het
St3gal3	T	A	4: 117,964,868 (GRCm39)		probably benign	Het
Tbc1d23	A	G	16: 57,011,917 (GRCm39)	F338L	probably damaging	Het
Tgs1	G	A	4: 3,586,097 (GRCm39)	A325T	probably benign	Het
Tmem30a	A	T	9: 79,681,494 (GRCm39)	I261K	probably damaging	Het
Trim3	A	T	7: 105,260,632 (GRCm39)	H662Q	possibly damaging	Het
Unc13c	C	T	9: 73,643,844 (GRCm39)	V1207M	probably damaging	Het
Vmn1r91	A	T	7: 19,835,749 (GRCm39)	I223F	probably damaging	Het
Vmn2r33	A	T	7: 7,557,153 (GRCm39)	C516S	possibly damaging	Het
Vps13c	T	C	9: 67,851,328 (GRCm39)	V2321A	probably damaging	Het
Zan	G	T	5: 137,387,589 (GRCm39)	T4874K	unknown	Het
Zfp677	T	C	17: 21,613,535 (GRCm39)	L43S	probably damaging	Het
Zfp709	A	G	8: 72,642,760 (GRCm39)		probably null	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
R8534:B020011L13Rik	UTSW	1	117,729,034 (GRCm39)	missense	probably benign	0.02
R9411:B020011L13Rik	UTSW	1	117,729,246 (GRCm39)	missense	probably benign	0.18
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'- CCTAAGGCTCACTGCAGACTTTC -3'
(R):5'- GGATTCTCTGGTGAACTTTAAGATCTG -3'

Sequencing Primer
(F):5'- GCAGACTTTCTACTCACGTGAC -3'
(R):5'- AAGGTTTGTCTCCAGTATGTAATCTG -3'

Posted On

2020-07-13