Mutagenetix > Incidental Mutation

Incidental Mutation 'R0026:BC016579'

15080

Institutional Source

Beutler Lab

Gene Symbol

BC016579

Ensembl Gene

ENSMUSG00000033187

Gene Name

cDNA sequence, BC016579

Synonyms

MMRRC Submission

038321-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R0026 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

45447211-45474431 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45460730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 113 (T113A)

Ref Sequence

ENSEMBL: ENSMUSP00000037651 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036732]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000036732
AA Change: T113A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000037651
Gene: ENSMUSG00000033187
AA Change: T113A

Domain	Start	End	E-Value	Type
transmembrane domain	67	89	N/A	INTRINSIC
low complexity region	123	135	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231331

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 78.7%
3x: 68.7%
10x: 42.4%
20x: 22.6%

Validation Efficiency

96% (75/78)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	C	T	7: 120,077,146 (GRCm39)		probably benign	Het
Acot10	G	A	15: 20,666,322 (GRCm39)	L140F	probably benign	Het
Asph	A	C	4: 9,601,361 (GRCm39)	S129A	probably damaging	Het
Atrn	T	C	2: 130,799,840 (GRCm39)	Y406H	probably damaging	Het
B4galt3	C	T	1: 171,101,831 (GRCm39)		probably benign	Het
Bmpr1b	A	G	3: 141,576,494 (GRCm39)	L113P	probably benign	Het
Casq1	T	C	1: 172,046,967 (GRCm39)		probably benign	Het
Ccdc187	T	C	2: 26,171,365 (GRCm39)	D371G	probably benign	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Cyp4b1	C	T	4: 115,504,718 (GRCm39)	G56D	possibly damaging	Het
Dock5	C	A	14: 68,083,530 (GRCm39)	E126D	probably benign	Het
Exph5	A	T	9: 53,287,779 (GRCm39)	D1620V	probably benign	Het
Fancd2os	G	T	6: 113,574,652 (GRCm39)	T118N	probably damaging	Het
Fli1	A	G	9: 32,387,880 (GRCm39)	Y37H	probably damaging	Het
Gm17521	G	A	X: 121,939,239 (GRCm39)	S43L	probably benign	Het
Gnb3	A	G	6: 124,814,380 (GRCm39)	V135A	probably benign	Het
Ibtk	A	G	9: 85,572,356 (GRCm39)	V1278A	probably benign	Het
Ighv1-58	G	A	12: 115,275,907 (GRCm39)	T77I	probably benign	Het
Lgsn	T	A	1: 31,242,524 (GRCm39)	V202D	probably damaging	Het
Madd	A	G	2: 91,006,053 (GRCm39)	F381L	possibly damaging	Het
Ntf3	T	A	6: 126,078,768 (GRCm39)	N246I	probably damaging	Het
Pds5b	G	A	5: 150,673,295 (GRCm39)		probably benign	Het
Ppp3cb	C	T	14: 20,581,836 (GRCm39)	V60I	probably benign	Het
Prc1	T	C	7: 79,960,809 (GRCm39)		probably benign	Het
Prpf31	T	A	7: 3,642,667 (GRCm39)	N413K	probably benign	Het
Rapgef5	T	C	12: 117,652,896 (GRCm39)	S307P	probably benign	Het
Rbfox2	T	C	15: 76,968,357 (GRCm39)	T435A	possibly damaging	Het
Senp1	T	C	15: 97,974,549 (GRCm39)	R88G	probably damaging	Het
Slc35b1	T	C	11: 95,281,468 (GRCm39)	S294P	probably benign	Het
Slc44a5	G	A	3: 153,945,907 (GRCm39)		probably benign	Het
Spata31e2	T	A	1: 26,722,450 (GRCm39)	D910V	probably benign	Het
Taf1d	T	A	9: 15,219,944 (GRCm39)	S64R	probably damaging	Het
Trim6	T	A	7: 103,875,016 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,599,534 (GRCm39)	T19186A	probably damaging	Het
Uchl4	A	T	9: 64,142,653 (GRCm39)		probably null	Het
Usp32	T	C	11: 84,922,900 (GRCm39)	S673G	possibly damaging	Het
Utrn	T	C	10: 12,601,940 (GRCm39)		probably benign	Het
Vps13b	T	C	15: 35,923,447 (GRCm39)	I3774T	possibly damaging	Het
Vwa3a	A	G	7: 120,379,434 (GRCm39)	Q513R	probably damaging	Het
Yipf1	T	A	4: 107,202,357 (GRCm39)	L240*	probably null	Het

Other mutations in BC016579

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02818:BC016579	APN	16	45,449,865 (GRCm39)	missense	probably damaging	0.99
IGL03061:BC016579	APN	16	45,449,849 (GRCm39)	missense	probably damaging	0.98
BB003:BC016579	UTSW	16	45,449,825 (GRCm39)	missense	probably damaging	1.00
BB013:BC016579	UTSW	16	45,449,825 (GRCm39)	missense	probably damaging	1.00
R0026:BC016579	UTSW	16	45,460,730 (GRCm39)	missense	probably benign	0.02
R0763:BC016579	UTSW	16	45,449,818 (GRCm39)	missense	probably damaging	0.97
R3424:BC016579	UTSW	16	45,449,846 (GRCm39)	missense	probably damaging	0.97
R3751:BC016579	UTSW	16	45,453,361 (GRCm39)	splice site	probably null
R4512:BC016579	UTSW	16	45,453,363 (GRCm39)	missense	possibly damaging	0.61
R5447:BC016579	UTSW	16	45,469,252 (GRCm39)	missense	probably benign	0.00
R5508:BC016579	UTSW	16	45,453,369 (GRCm39)	missense	possibly damaging	0.59
R7926:BC016579	UTSW	16	45,449,825 (GRCm39)	missense	probably damaging	1.00
R9707:BC016579	UTSW	16	45,460,760 (GRCm39)	missense	probably damaging	0.99
Z1088:BC016579	UTSW	16	45,474,311 (GRCm39)	missense	probably benign	0.06
Z1177:BC016579	UTSW	16	45,469,259 (GRCm39)	missense	possibly damaging	0.93

Posted On

2012-12-12