Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02736:Ighv1-4'

305675

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv1-4

Ensembl Gene

ENSMUSG00000095442

Gene Name

immunoglobulin heavy variable 1-4

Synonyms

Gm16694

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.448) question?

Stock #

IGL02736

Quality Score

Status

Chromosome

Chromosomal Location

114450756-114451049 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114450872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 79 (Y79H)

Ref Sequence

ENSEMBL: ENSMUSP00000100274 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103493]

AlphaFold

A0A075B5T4

Predicted Effect

probably benign
Transcript: ENSMUST00000103493
AA Change: Y79H

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000100274
Gene: ENSMUSG00000095442
AA Change: Y79H

Domain	Start	End	E-Value	Type
IGv	36	117	4.98e-31	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	G	A	1: 12,042,275 (GRCm39)	A416T	probably benign	Het
Aadacl4fm1	G	A	4: 144,255,207 (GRCm39)	R209K	probably benign	Het
Akap12	A	G	10: 4,305,637 (GRCm39)	I816V	probably benign	Het
Antxrl	A	G	14: 33,778,575 (GRCm39)		probably benign	Het
Atp1a3	G	A	7: 24,679,534 (GRCm39)	T920I	probably damaging	Het
Cd22	C	T	7: 30,577,470 (GRCm39)		probably null	Het
Cntn3	T	A	6: 102,180,900 (GRCm39)	N765I	probably damaging	Het
Cracdl	T	C	1: 37,676,954 (GRCm39)	E76G	probably damaging	Het
Crebbp	G	A	16: 3,972,774 (GRCm39)	P307S	probably benign	Het
Dapk2	T	A	9: 66,176,198 (GRCm39)	M333K	probably benign	Het
Decr1	T	A	4: 15,930,952 (GRCm39)	T127S	probably benign	Het
Dnmbp	A	T	19: 43,838,209 (GRCm39)		probably benign	Het
Erbin	A	G	13: 103,975,903 (GRCm39)	S664P	probably damaging	Het
Hectd4	G	T	5: 121,480,782 (GRCm39)	C2941F	possibly damaging	Het
Matn3	T	A	12: 9,005,422 (GRCm39)	D277E	possibly damaging	Het
Mgarp	C	A	3: 51,303,866 (GRCm39)	A36S	possibly damaging	Het
Mycbp2	A	G	14: 103,351,678 (GRCm39)		probably benign	Het
Nynrin	G	A	14: 56,108,366 (GRCm39)	A1158T	probably damaging	Het
Or4k5	G	A	14: 50,385,881 (GRCm39)	A150V	probably benign	Het
Or6k14	T	G	1: 173,927,213 (GRCm39)	I63S	probably damaging	Het
Pakap	C	A	4: 57,709,721 (GRCm39)	A222E	probably damaging	Het
Pkd1l2	T	C	8: 117,767,405 (GRCm39)	D1295G	probably benign	Het
Ppig	A	G	2: 69,566,438 (GRCm39)	I171M	probably damaging	Het
Ptprs	A	T	17: 56,765,248 (GRCm39)	V12E	possibly damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rpgrip1l	T	A	8: 91,990,219 (GRCm39)	Q741L	possibly damaging	Het
Slco6d1	T	C	1: 98,356,036 (GRCm39)	V157A	possibly damaging	Het
Sox6	A	C	7: 115,179,875 (GRCm39)	D302E	probably damaging	Het
Spata3	T	C	1: 85,952,157 (GRCm39)	V136A	probably damaging	Het
St6galnac6	G	A	2: 32,504,983 (GRCm39)	R129H	probably benign	Het
Tmem184c	A	T	8: 78,324,475 (GRCm39)	D338E	probably damaging	Het
Tmem67	A	G	4: 12,045,789 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,708,614 (GRCm39)		probably benign	Het
Usp16	T	C	16: 87,261,723 (GRCm39)	V113A	possibly damaging	Het
Utrn	A	G	10: 12,297,384 (GRCm39)	Y675H	probably damaging	Het
Zc3h4	T	A	7: 16,151,308 (GRCm39)	Y117*	probably null	Het
Zc3h7b	A	T	15: 81,676,175 (GRCm39)	M694L	probably benign	Het
Zfp345	A	T	2: 150,316,474 (GRCm39)	Y45N	probably damaging	Het

Other mutations in Ighv1-4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02380:Ighv1-4	APN	12	114,450,753 (GRCm39)	unclassified	probably benign
IGL02661:Ighv1-4	APN	12	114,450,850 (GRCm39)	missense	probably damaging	1.00
PIT4403001:Ighv1-4	UTSW	12	114,450,824 (GRCm39)	missense	probably damaging	0.99
R0066:Ighv1-4	UTSW	12	114,450,989 (GRCm39)	missense	possibly damaging	0.83
R2900:Ighv1-4	UTSW	12	114,450,788 (GRCm39)	missense	probably benign	0.28
R3014:Ighv1-4	UTSW	12	114,450,769 (GRCm39)	missense	possibly damaging	0.78
R4074:Ighv1-4	UTSW	12	114,451,147 (GRCm39)	missense	possibly damaging	0.52
R5505:Ighv1-4	UTSW	12	114,451,057 (GRCm39)	missense	possibly damaging	0.95
R6207:Ighv1-4	UTSW	12	114,451,142 (GRCm39)	critical splice donor site	probably benign
R6309:Ighv1-4	UTSW	12	114,451,015 (GRCm39)	missense	probably benign	0.33
R7286:Ighv1-4	UTSW	12	114,450,941 (GRCm39)	missense	probably benign	0.03
R7299:Ighv1-4	UTSW	12	114,450,908 (GRCm39)	missense	probably benign	0.24
R7300:Ighv1-4	UTSW	12	114,450,908 (GRCm39)	missense	probably benign	0.24
R7917:Ighv1-4	UTSW	12	114,451,165 (GRCm39)	missense	possibly damaging	0.55
R8374:Ighv1-4	UTSW	12	114,450,899 (GRCm39)	missense	probably benign	0.12
R9010:Ighv1-4	UTSW	12	114,450,949 (GRCm39)	missense	possibly damaging	0.88
R9127:Ighv1-4	UTSW	12	114,450,879 (GRCm39)	nonsense	probably null
Z1177:Ighv1-4	UTSW	12	114,451,024 (GRCm39)	missense	possibly damaging	0.94

Posted On

2015-04-16