Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03118:Ighv5-12'

409851

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv5-12

Ensembl Gene

ENSMUSG00000095429

Gene Name

immunoglobulin heavy variable 5-12

Synonyms

Gm16592

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL03118

Quality Score

Status

Chromosome

Chromosomal Location

113702124-113702578 bp(-) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 113702578 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1 (M1L)

Ref Sequence

ENSEMBL: ENSMUSP00000100231 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103450]

AlphaFold

A0A075B5Q4

Predicted Effect

probably benign
Transcript: ENSMUST00000103450
AA Change: M1L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000100231
Gene: ENSMUSG00000095429
AA Change: M1L

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
IGv	36	117	8.02e-35	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,400,450	G921S	probably benign	Het
Abca8b	T	C	11: 109,947,181	T1082A	possibly damaging	Het
AF366264	C	T	8: 13,838,096		probably benign	Het
B9d2	T	C	7: 25,681,476		probably null	Het
Bfsp1	T	C	2: 143,827,333	E442G	possibly damaging	Het
Bpifb5	C	T	2: 154,236,753		probably benign	Het
Ccl1	A	G	11: 82,178,070	I47T	probably damaging	Het
Cln3	T	C	7: 126,575,397	I285V	probably null	Het
Cyp4a12b	G	T	4: 115,432,976	R242I	possibly damaging	Het
Dcc	T	C	18: 71,420,273	T771A	probably benign	Het
Erbb4	T	C	1: 68,042,719	D1052G	probably benign	Het
Fcnb	T	C	2: 28,076,618	N301S	probably benign	Het
Gm28043	A	C	17: 29,634,731	E403A	probably damaging	Het
Gria4	A	G	9: 4,793,804		probably benign	Het
Il17rd	A	G	14: 27,093,395		probably null	Het
Kcnn3	T	A	3: 89,667,161	L660Q	probably damaging	Het
Lcor	C	T	19: 41,558,369	P131S	probably damaging	Het
Leng1	T	C	7: 3,665,410	N13S	probably damaging	Het
Loxhd1	T	C	18: 77,380,464	V827A	probably damaging	Het
Mapk13	A	G	17: 28,777,735	Y208C	probably benign	Het
Mybpc3	T	C	2: 91,124,503	V453A	probably damaging	Het
Odam	T	C	5: 87,885,754	S15P	unknown	Het
Olfr26	A	T	9: 38,855,230	H56L	probably damaging	Het
Olfr323	A	T	11: 58,625,443	V201D	probably damaging	Het
Pcdhb19	T	C	18: 37,499,565		probably benign	Het
Per2	G	T	1: 91,444,619	Y244*	probably null	Het
Pik3ca	A	T	3: 32,459,935	I857F	probably damaging	Het
Pold1	T	A	7: 44,539,400	I447F	probably benign	Het
Ppm1f	T	A	16: 16,914,078	W131R	probably null	Het
Ppp2r2c	A	G	5: 36,926,316	Y67C	probably damaging	Het
Psmb10	A	T	8: 105,936,900	H155Q	probably damaging	Het
Ptbp3	G	A	4: 59,501,470	A149V	probably benign	Het
Pygb	T	A	2: 150,820,811	V566E	probably benign	Het
Rictor	G	A	15: 6,759,518	R205Q	possibly damaging	Het
Ryr1	T	A	7: 29,015,786	R4638W	unknown	Het
Sept3	G	A	15: 82,284,514		probably null	Het
Serpina3b	A	T	12: 104,131,054	D198V	probably benign	Het
Slc27a6	C	A	18: 58,556,743	H94N	probably benign	Het
Taf2	C	T	15: 55,052,163	V456M	probably damaging	Het
Tbpl2	T	C	2: 24,087,289	E238G	probably benign	Het
Ttn	C	T	2: 76,754,207	V20440I	possibly damaging	Het
Zfp638	T	A	6: 83,935,018		probably benign	Het
Zfp865	T	C	7: 5,034,645		probably benign	Het

Other mutations in Ighv5-12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01936:Ighv5-12	APN	12	113702307	missense	probably damaging	1.00
R5568:Ighv5-12	UTSW	12	113702217	missense	probably damaging	1.00
R7402:Ighv5-12	UTSW	12	113702233	missense	probably benign	0.09
R7760:Ighv5-12	UTSW	12	113702175	missense	probably benign	0.05
R8017:Ighv5-12	UTSW	12	113702172	missense	probably damaging	1.00
R8019:Ighv5-12	UTSW	12	113702172	missense	probably damaging	1.00
R9369:Ighv5-12	UTSW	12	113702365	nonsense	probably null
R9711:Ighv5-12	UTSW	12	113702338	missense	probably benign	0.06

Posted On

2016-08-02