Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03058:B020011L13Rik'

409347

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

B020011L13Rik

Ensembl Gene

ENSMUSG00000101303

Gene Name

RIKEN cDNA B020011L13 gene

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL03058

Quality Score

Status

Chromosome

Chromosomal Location

117708865-117731089 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117710699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 35 (D35G)

Ref Sequence

ENSEMBL: ENSMUSP00000140211 (fasta)

Gene Model

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

AlphaFold

A0A087WQI7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188801
AA Change: D35G

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140211
Gene: ENSMUSG00000101303
AA Change: D35G

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,109,112 (GRCm39)	V395A	probably benign	Het
Adck1	A	T	12: 88,425,900 (GRCm39)	T443S	probably benign	Het
Axdnd1	G	A	1: 156,204,233 (GRCm39)	A541V	probably benign	Het
Bmp3	T	G	5: 99,019,953 (GRCm39)	I125M	probably damaging	Het
Cdc40	T	C	10: 40,725,824 (GRCm39)	E215G	probably benign	Het
Ces1f	A	G	8: 93,996,600 (GRCm39)		probably null	Het
Chd8	A	C	14: 52,455,730 (GRCm39)	V986G	probably damaging	Het
Clca4a	A	T	3: 144,667,595 (GRCm39)		probably benign	Het
Crhbp	T	A	13: 95,580,306 (GRCm39)	E91V	probably damaging	Het
Dgkh	T	A	14: 78,865,237 (GRCm39)	H53L	probably benign	Het
Dnajc1	T	C	2: 18,222,132 (GRCm39)	D532G	possibly damaging	Het
Dot1l	T	C	10: 80,626,831 (GRCm39)	S230P	probably benign	Het
Evi5	C	T	5: 107,896,017 (GRCm39)	V809M	probably damaging	Het
Fbn1	T	A	2: 125,245,120 (GRCm39)	M256L	probably benign	Het
Fem1al	T	C	11: 29,774,656 (GRCm39)	D267G	probably benign	Het
Fgfr2	C	T	7: 129,784,422 (GRCm39)	D292N	probably damaging	Het
Fmn1	C	T	2: 113,272,159 (GRCm39)		probably benign	Het
Htatsf1	T	A	X: 56,104,281 (GRCm39)	D203E	probably damaging	Het
Kcnh1	T	A	1: 192,117,199 (GRCm39)	L51Q	probably damaging	Het
Lamp5	A	T	2: 135,911,047 (GRCm39)	H260L	probably benign	Het
Mindy4	T	A	6: 55,285,183 (GRCm39)	V659D	probably damaging	Het
Mkks	C	A	2: 136,718,090 (GRCm39)	L397F	probably damaging	Het
Ncan	G	A	8: 70,560,582 (GRCm39)	S795F	possibly damaging	Het
Or13c7d	A	C	4: 43,770,255 (GRCm39)	F252C	probably damaging	Het
Or9g4	T	C	2: 85,505,025 (GRCm39)	I157V	probably benign	Het
Papolg	T	C	11: 23,845,029 (GRCm39)	M4V	probably benign	Het
Pdk3	A	T	X: 92,845,892 (GRCm39)	I143N	probably benign	Het
Polr2a	A	T	11: 69,635,873 (GRCm39)		probably null	Het
Prc1	C	T	7: 79,950,873 (GRCm39)	T78I	probably benign	Het
Ret	C	A	6: 118,152,028 (GRCm39)	D569Y	probably damaging	Het
Samd9l	G	T	6: 3,374,980 (GRCm39)	N760K	probably damaging	Het
Slc5a12	T	A	2: 110,471,137 (GRCm39)	S460T	probably benign	Het
Slco1c1	A	G	6: 141,508,913 (GRCm39)	I573M	probably benign	Het
Spata31f1e	G	A	4: 42,793,764 (GRCm39)	L123F	probably damaging	Het
Steap4	A	G	5: 8,025,664 (GRCm39)	D75G	probably benign	Het
Tcf20	A	G	15: 82,736,205 (GRCm39)	F1749L	probably damaging	Het
Thbs2	T	C	17: 14,910,231 (GRCm39)	T123A	possibly damaging	Het
Tmc3	T	C	7: 83,265,094 (GRCm39)	S663P	possibly damaging	Het
Vmn2r121	G	T	X: 123,042,618 (GRCm39)	H180N	probably benign	Het
Vnn1	T	C	10: 23,780,442 (GRCm39)	F477L	probably benign	Het
Xpnpep2	A	G	X: 47,214,302 (GRCm39)		probably null	Het
Zfand4	T	C	6: 116,265,038 (GRCm39)	F168L	probably benign	Het

Other mutations in B020011L13Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2016-08-02