Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02542:Ighv1-80'

297693

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv1-80

Ensembl Gene

ENSMUSG00000094075

Gene Name

immunoglobulin heavy variable 1-80

Synonyms

Gm16814

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.626) question?

Stock #

IGL02542

Quality Score

Status

Chromosome

Chromosomal Location

115875964-115876257 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115876199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 39 (I39N)

Ref Sequence

ENSEMBL: ENSMUSP00000100328 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103547]

AlphaFold

A0A075B5Y3

Predicted Effect

probably damaging
Transcript: ENSMUST00000103547
AA Change: I39N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000100328
Gene: ENSMUSG00000094075
AA Change: I39N

Domain	Start	End	E-Value	Type
low complexity region	15	28	N/A	INTRINSIC
IGv	36	117	4.9e-30	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahsa2	T	A	11: 23,440,559 (GRCm39)	T231S	possibly damaging	Het
Arfgef1	A	G	1: 10,243,067 (GRCm39)	L1091P	probably benign	Het
Arhgap32	A	T	9: 32,166,944 (GRCm39)	K527M	probably damaging	Het
Caap1	T	C	4: 94,438,742 (GRCm39)	N149S	probably benign	Het
Cc2d2a	A	G	5: 43,846,252 (GRCm39)		probably benign	Het
Cdk13	A	T	13: 17,902,763 (GRCm39)	I929K	probably damaging	Het
Fan1	A	G	7: 64,014,408 (GRCm39)	Y608H	probably damaging	Het
Foxj3	A	G	4: 119,477,540 (GRCm39)	N416S	unknown	Het
Gm20547	T	C	17: 35,076,236 (GRCm39)	S1151G	possibly damaging	Het
Igkv11-125	A	C	6: 67,890,991 (GRCm39)	E102A	probably damaging	Het
Mdc1	C	A	17: 36,164,048 (GRCm39)	P1199T	probably damaging	Het
Negr1	T	C	3: 156,267,862 (GRCm39)	S11P	probably damaging	Het
Oxsr1	T	C	9: 119,071,801 (GRCm39)	R477G	possibly damaging	Het
Pappa	T	A	4: 65,094,518 (GRCm39)	F514L	probably damaging	Het
Pde6c	G	T	19: 38,166,578 (GRCm39)	D707Y	probably damaging	Het
Phtf1	T	C	3: 103,901,222 (GRCm39)		probably benign	Het
Piezo2	T	A	18: 63,165,995 (GRCm39)	I2079F	probably damaging	Het
Ptprm	T	C	17: 67,227,145 (GRCm39)	D668G	probably benign	Het
Ptprq	T	C	10: 107,498,416 (GRCm39)	Y887C	probably damaging	Het
Rax	T	C	18: 66,071,701 (GRCm39)	E62G	possibly damaging	Het
Rnf25	T	C	1: 74,633,260 (GRCm39)	E364G	probably benign	Het
Sipa1l3	A	T	7: 29,087,490 (GRCm39)	D578E	probably damaging	Het
Slc14a2	T	G	18: 78,252,302 (GRCm39)	D3A	probably benign	Het
Slc28a3	A	G	13: 58,721,284 (GRCm39)	Y294H	probably damaging	Het
Slit1	T	C	19: 41,615,687 (GRCm39)	T811A	probably damaging	Het
Sorcs2	T	C	5: 36,183,286 (GRCm39)	T996A	probably damaging	Het
Tmem132b	A	C	5: 125,699,558 (GRCm39)	Q73P	probably damaging	Het
Tnrc6b	T	A	15: 80,786,553 (GRCm39)	I1275N	possibly damaging	Het
Vasp	A	T	7: 18,998,705 (GRCm39)	D17E	probably damaging	Het
Wdr19	A	G	5: 65,388,414 (GRCm39)	T700A	probably benign	Het
Ythdc2	T	G	18: 44,973,308 (GRCm39)	L315W	probably damaging	Het
Zfp385c	A	G	11: 100,520,742 (GRCm39)	V306A	probably damaging	Het

Other mutations in Ighv1-80

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01954:Ighv1-80	APN	12	115,876,253 (GRCm39)	missense	probably benign	0.08
R6317:Ighv1-80	UTSW	12	115,876,265 (GRCm39)	missense	probably damaging	1.00
R8939:Ighv1-80	UTSW	12	115,876,113 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16