Mutagenetix > Incidental Mutations

Incidental Mutation 'R3779:Ighv1-72'

473540

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-72

Ensembl Gene

ENSMUSG00000096074

Gene Name

immunoglobulin heavy variable 1-72

Synonyms

Gm16709

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R3779 (G1)

Quality Score

191

Status

Not validated

Chromosome

Chromosomal Location

115757984-115758277 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115758016 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 107 (S107T)

Ref Sequence

ENSEMBL: ENSMUSP00000100322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103541]

Predicted Effect

probably damaging
Transcript: ENSMUST00000103541
AA Change: S107T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100322
Gene: ENSMUSG00000096074
AA Change: S107T

Domain	Start	End	E-Value	Type
IGv	36	117	8.67e-31	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	A	G	16: 88,627,385	C73R	probably damaging	Het
Acot10	A	G	15: 20,665,542	V371A	probably damaging	Het
Ambn	C	A	5: 88,465,342		probably benign	Het
Ankrd34a	T	C	3: 96,598,931	F484L	possibly damaging	Het
Bcl11a	A	G	11: 24,164,568	K637R	probably damaging	Het
Cenpe	T	C	3: 135,256,576	S1968P	possibly damaging	Het
Cfap61	T	C	2: 145,950,794	I52T	probably damaging	Het
Cit	A	T	5: 115,859,341	M128L	probably benign	Het
Cnga1	G	T	5: 72,604,783	L463I	probably damaging	Het
Dnah11	C	T	12: 118,130,713		probably benign	Het
Elovl4	ACT	A	9: 83,785,148		probably null	Het
Ep400	A	G	5: 110,691,649	I1853T	unknown	Het
Flg2	C	T	3: 93,202,423	S586L	unknown	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably benign	Het
Gm21886	G	T	18: 80,089,434	Q170K	possibly damaging	Het
Gm5819	A	G	18: 8,694,429	E118G	probably damaging	Het
Gm9376	T	C	14: 118,267,315	V53A	probably benign	Het
H2-T3	T	C	17: 36,189,682	T90A	probably damaging	Het
Hif1an	A	G	19: 44,569,408	D243G	probably damaging	Het
Hmgcs2	C	T	3: 98,299,112		probably benign	Het
Jak1	G	A	4: 101,156,490	H1014Y	probably benign	Het
Klrb1c	T	C	6: 128,780,343	D253G	probably damaging	Het
Lpin1	G	A	12: 16,564,568	T404M	probably damaging	Het
Map3k9	A	T	12: 81,743,791		probably benign	Het
Myl12a	G	T	17: 70,994,636	H165Q	possibly damaging	Het
Olfr768	A	G	10: 129,093,296	F226S	possibly damaging	Het
Pdgfrb	T	A	18: 61,072,666	S575T	probably damaging	Het
Phldb2	T	C	16: 45,748,755	Y1247C	probably damaging	Het
Pinlyp	T	A	7: 24,541,835	T181S	probably benign	Het
Pkn2	A	G	3: 142,793,980	V928A	possibly damaging	Het
Skint5	C	T	4: 113,779,040		probably benign	Het
Skiv2l2	A	T	13: 112,903,392		probably benign	Het
Slc24a1	A	G	9: 64,948,297	Y443H	unknown	Het
Sp8	G	T	12: 118,849,015	V202L	possibly damaging	Het
Svil	A	G	18: 5,090,855	N915S	probably damaging	Het
Syncrip	A	C	9: 88,476,939	D172E	probably damaging	Het
Tex26	T	C	5: 149,445,851	I48T	probably damaging	Het
Trpm6	A	C	19: 18,876,039	I1808L	possibly damaging	Het
Uba2	T	C	7: 34,154,646		probably null	Het
Vwa8	T	A	14: 79,102,322		probably benign	Het
Wfs1	C	A	5: 36,968,624	V308L	probably benign	Het
Wrn	T	A	8: 33,241,020	R1095W	probably damaging	Het
Zfp808	T	A	13: 62,171,903	N315K	probably damaging	Het

Other mutations in Ighv1-72

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01577:Ighv1-72	APN	12	115758273	missense	possibly damaging	0.75
PIT4472001:Ighv1-72	UTSW	12	115758000	missense	probably damaging	1.00
R3777:Ighv1-72	UTSW	12	115758016	missense	probably damaging	0.99
R3778:Ighv1-72	UTSW	12	115758016	missense	probably damaging	0.99
R4154:Ighv1-72	UTSW	12	115758397	missense	probably benign	0.02
R6023:Ighv1-72	UTSW	12	115757912	unclassified	probably benign
R6281:Ighv1-72	UTSW	12	115758403	missense	probably benign
R7400:Ighv1-72	UTSW	12	115758217	missense	probably damaging	0.99
Z1177:Ighv1-72	UTSW	12	115758201	missense	probably damaging	0.98

Predicted Primers

Posted On

2017-04-14