Mutagenetix > Incidental Mutations

Incidental Mutation 'R0026:Ighv1-58'

18675

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-58

Ensembl Gene

ENSMUSG00000095889

Gene Name

immunoglobulin heavy variable 1-58

Synonyms

Gm16633

MMRRC Submission

038321-MU

Accession Numbers

Is this an essential gene?

Not available question?

Stock #

R0026 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

115312166-115312599 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 115312287 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 77 (T77I)

Ref Sequence

ENSEMBL: ENSMUSP00000100310 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103529]

Predicted Effect

probably benign
Transcript: ENSMUST00000103529
AA Change: T77I

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000100310
Gene: ENSMUSG00000095889
AA Change: T77I

Domain	Start	End	E-Value	Type
IGv	36	117	1.29e-29	SMART

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
4931408C20Rik	T	A	1: 26,683,369	D910V	probably benign	Het
Abca16	C	T	7: 120,477,923		probably benign	Het
Acot10	G	A	15: 20,666,236	L140F	probably benign	Het
Asph	A	C	4: 9,601,361	S129A	probably damaging	Het
Atrn	T	C	2: 130,957,920	Y406H	probably damaging	Het
B4galt3	C	T	1: 171,274,261		probably benign	Het
BC016579	T	C	16: 45,640,367	T113A	probably benign	Het
Bmpr1b	A	G	3: 141,870,733	L113P	probably benign	Het
Casq1	T	C	1: 172,219,400		probably benign	Het
Ccdc187	T	C	2: 26,281,353	D371G	probably benign	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Cyp4b1	C	T	4: 115,647,521	G56D	possibly damaging	Het
Dock5	C	A	14: 67,846,081	E126D	probably benign	Het
Exph5	A	T	9: 53,376,479	D1620V	probably benign	Het
Fancd2os	G	T	6: 113,597,691	T118N	probably damaging	Het
Fli1	A	G	9: 32,476,584	Y37H	probably damaging	Het
Gm17521	G	A	X: 123,029,542	S43L	probably benign	Het
Gnb3	A	G	6: 124,837,417	V135A	probably benign	Het
Ibtk	A	G	9: 85,690,303	V1278A	probably benign	Het
Lgsn	T	A	1: 31,203,443	V202D	probably damaging	Het
Madd	A	G	2: 91,175,708	F381L	possibly damaging	Het
Ntf3	T	A	6: 126,101,805	N246I	probably damaging	Het
Pds5b	G	A	5: 150,749,830		probably benign	Het
Ppp3cb	C	T	14: 20,531,768	V60I	probably benign	Het
Prc1	T	C	7: 80,311,061		probably benign	Het
Prpf31	T	A	7: 3,639,668	N413K	probably benign	Het
Rapgef5	T	C	12: 117,689,161	S307P	probably benign	Het
Rbfox2	T	C	15: 77,084,157	T435A	possibly damaging	Het
Senp1	T	C	15: 98,076,668	R88G	probably damaging	Het
Slc35b1	T	C	11: 95,390,642	S294P	probably benign	Het
Slc44a5	G	A	3: 154,240,270		probably benign	Het
Taf1d	T	A	9: 15,308,648	S64R	probably damaging	Het
Trim6	T	A	7: 104,225,809		probably null	Het
Ttn	T	C	2: 76,769,190	T19186A	probably damaging	Het
Uchl4	A	T	9: 64,235,371		probably null	Het
Usp32	T	C	11: 85,032,074	S673G	possibly damaging	Het
Utrn	T	C	10: 12,726,196		probably benign	Het
Vps13b	T	C	15: 35,923,301	I3774T	possibly damaging	Het
Vwa3a	A	G	7: 120,780,211	Q513R	probably damaging	Het
Yipf1	T	A	4: 107,345,160	L240*	probably null	Het

Other mutations in Ighv1-58

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02252:Ighv1-58	APN	12	115312277	missense	possibly damaging	0.89
R0098:Ighv1-58	UTSW	12	115312299	missense	probably benign	0.03
R4012:Ighv1-58	UTSW	12	115312310	nonsense	probably null
R7018:Ighv1-58	UTSW	12	115312365	missense	probably damaging	1.00
R7301:Ighv1-58	UTSW	12	115312295	missense	probably benign	0.11
R7821:Ighv1-58	UTSW	12	115312176	missense	possibly damaging	0.88

Posted On

2013-03-25