Mutagenetix > Incidental Mutation

Incidental Mutation 'R6785:B020011L13Rik'

531588

Institutional Source

Beutler Lab

Gene Symbol

B020011L13Rik

Ensembl Gene

ENSMUSG00000101303

Gene Name

RIKEN cDNA B020011L13 gene

Synonyms

MMRRC Submission

044899-MU

Accession Numbers

Essential gene?

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

Stock #

R6785 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117708865-117731089 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117728799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 102 (D102G)

Ref Sequence

ENSEMBL: ENSMUSP00000140211 (fasta)

Gene Model

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

AlphaFold

A0A087WQI7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188801
AA Change: D102G

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140211
Gene: ENSMUSG00000101303
AA Change: D102G

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

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	A	G	2: 22,843,479 (GRCm39)	V316A	probably benign	Het
Acad12	T	C	5: 121,747,908 (GRCm39)	Y170C	probably damaging	Het
Acss2	T	C	2: 155,402,605 (GRCm39)	V587A	probably damaging	Het
Adamtsl3	A	G	7: 82,171,212 (GRCm39)	I422V	probably damaging	Het
Aldh18a1	A	G	19: 40,556,788 (GRCm39)	L375P	probably damaging	Het
Cfap74	T	A	4: 155,538,481 (GRCm39)		probably benign	Het
Coa4	G	A	7: 100,188,460 (GRCm39)	V58M	probably damaging	Het
Crybg1	T	C	10: 43,875,167 (GRCm39)	N647S	probably benign	Het
Dync1h1	G	A	12: 110,596,113 (GRCm39)	G1547S	probably damaging	Het
Espnl	A	G	1: 91,249,943 (GRCm39)	D30G	probably benign	Het
Fasl	T	A	1: 161,609,404 (GRCm39)	Y194F	probably benign	Het
Fbxw8	T	C	5: 118,230,754 (GRCm39)	E349G	probably damaging	Het
Gen1	A	G	12: 11,312,531 (GRCm39)	V13A	possibly damaging	Het
Gm4559	A	G	7: 141,827,845 (GRCm39)	C86R	unknown	Het
H2-M9	T	C	17: 36,953,125 (GRCm39)	N61D	probably damaging	Het
H6pd	C	T	4: 150,067,247 (GRCm39)	E380K	possibly damaging	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Hnrnpd	C	A	5: 100,126,283 (GRCm39)	K67N	probably benign	Het
Hspg2	T	C	4: 137,235,709 (GRCm39)	S170P	probably damaging	Het
Igsf10	G	T	3: 59,226,665 (GRCm39)	P2336Q	probably damaging	Het
Itih3	C	T	14: 30,634,572 (GRCm39)		probably null	Het
Katnb1	T	C	8: 95,822,270 (GRCm39)	Y298H	probably benign	Het
Kif21a	A	T	15: 90,819,933 (GRCm39)	N1610K	probably damaging	Het
Lce1l	A	T	3: 92,757,500 (GRCm39)	C119*	probably null	Het
Lcn2	C	T	2: 32,277,039 (GRCm39)		probably null	Het
Lmf2	A	T	15: 89,236,236 (GRCm39)	S588T	probably benign	Het
Mboat7	A	G	7: 3,688,835 (GRCm39)	L231P	probably benign	Het
Mier2	T	C	10: 79,380,547 (GRCm39)	R288G	probably damaging	Het
Mybbp1a	T	C	11: 72,338,392 (GRCm39)	V694A	probably benign	Het
Ndnf	C	A	6: 65,680,047 (GRCm39)	L109I	probably benign	Het
Nfkb1	C	A	3: 135,321,064 (GRCm39)	E230D	probably benign	Het
Nostrin	A	G	2: 69,014,271 (GRCm39)	K409R	probably benign	Het
Or1j10	A	G	2: 36,266,854 (GRCm39)	Q22R	probably benign	Het
Or1j10	C	A	2: 36,266,963 (GRCm39)	Y58*	probably null	Het
Or8k35	T	A	2: 86,424,765 (GRCm39)	M136L	probably damaging	Het
Pdpr	C	A	8: 111,851,243 (GRCm39)	T534N	probably benign	Het
Plekhf1	G	A	7: 37,921,488 (GRCm39)	Q27*	probably null	Het
Ppp6c	A	T	2: 39,087,593 (GRCm39)	H204Q	probably benign	Het
Prrc2c	T	C	1: 162,536,670 (GRCm39)		probably benign	Het
Prrg2	A	G	7: 44,709,649 (GRCm39)	F83L	probably damaging	Het
Rab11fip3	T	G	17: 26,210,692 (GRCm39)	D938A	probably damaging	Het
Rai1	A	G	11: 60,079,620 (GRCm39)	N1228S	probably benign	Het
Ryr1	G	T	7: 28,764,299 (GRCm39)	T3060K	probably benign	Het
Scube2	A	G	7: 109,409,824 (GRCm39)	I557T	probably benign	Het
Setdb1	C	A	3: 95,233,712 (GRCm39)	R1066L	probably benign	Het
Shoc1	T	C	4: 59,049,066 (GRCm39)	M1100V	probably benign	Het
Slc35f3	T	C	8: 127,121,198 (GRCm39)	V353A	probably benign	Het
Slfn3	A	T	11: 83,105,427 (GRCm39)	T475S	possibly damaging	Het
Snrnp200	T	A	2: 127,071,085 (GRCm39)	M1122K	possibly damaging	Het
Tead4	T	A	6: 128,219,444 (GRCm39)	K223*	probably null	Het
Tex2	A	C	11: 106,424,776 (GRCm39)	I334R	probably damaging	Het
Tfdp1	C	T	8: 13,420,485 (GRCm39)	R105W	probably damaging	Het
Tfdp1	G	T	8: 13,427,233 (GRCm39)	V393F	possibly damaging	Het
Thsd7b	T	C	1: 129,358,644 (GRCm39)	L26P	probably damaging	Het
Trim80	T	C	11: 115,332,027 (GRCm39)	I73T	probably damaging	Het
Tssk4	T	A	14: 55,887,932 (GRCm39)	Y43N	probably damaging	Het
Ttn	T	C	2: 76,541,839 (GRCm39)	T25389A	probably damaging	Het
Ttn	A	T	2: 76,578,288 (GRCm39)	F24202I	probably damaging	Het
Vmn1r177	A	G	7: 23,565,562 (GRCm39)	S105P	probably damaging	Het
Vmn2r40	T	A	7: 8,911,203 (GRCm39)	T697S	probably benign	Het
Zfp267	T	A	3: 36,219,601 (GRCm39)	C541*	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
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
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'- AATTCAGGGAATATACTGCTGGTAGTG -3'
(R):5'- GAGTACTGGAAGAATGATTTCTCAC -3'

Sequencing Primer
(F):5'- ATATACTGCTGGTAGTGAAGAGTG -3'
(R):5'- TCATTACATTTGTAAGGTTTGTCTCC -3'

Posted On

2018-08-29