Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01368:Ighv5-9-1'

76006

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv5-9-1

Ensembl Gene

ENSMUSG00000095210

Gene Name

immunoglobulin heavy variable 5-9-1

Synonyms

Gm16886

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

IGL01368

Quality Score

Status

Chromosome

Chromosomal Location

113699733-113700026 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113700010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 34 (E34G)

Ref Sequence

ENSEMBL: ENSMUSP00000141243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103452] [ENSMUST00000192264]

AlphaFold

A0A075B5Q6

Predicted Effect

probably damaging
Transcript: ENSMUST00000103452
AA Change: E24G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000100233
Gene: ENSMUSG00000095210
AA Change: E24G

Domain	Start	End	E-Value	Type
IGv	35	116	8.34e-33	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000192264
AA Change: E34G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141243
Gene: ENSMUSG00000095210
AA Change: E34G

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IGv	45	126	3.3e-35	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	T	A	14: 103,288,770 (GRCm39)	D93E	probably damaging	Het
Adam22	T	C	5: 8,177,411 (GRCm39)	Y566C	probably damaging	Het
Atp8b3	G	A	10: 80,370,063 (GRCm39)		probably benign	Het
Babam1	T	A	8: 71,851,050 (GRCm39)	D104E	probably damaging	Het
Bcl2a1a	T	A	9: 88,839,500 (GRCm39)	W133R	probably damaging	Het
Ckm	C	T	7: 19,150,712 (GRCm39)	Q184*	probably null	Het
Clk4	T	A	11: 51,171,999 (GRCm39)	Y246*	probably null	Het
Cyp3a57	T	C	5: 145,305,878 (GRCm39)	S121P	probably damaging	Het
Eif1ad15	C	T	12: 88,287,858 (GRCm39)	D132N	unknown	Het
Gm8011	T	C	14: 42,287,831 (GRCm39)		probably benign	Het
Gpr153	T	C	4: 152,367,451 (GRCm39)	F434S	probably benign	Het
Gpr158	G	T	2: 21,831,909 (GRCm39)	W1003L	probably damaging	Het
Igkv16-104	G	T	6: 68,402,594 (GRCm39)	R2S	possibly damaging	Het
Map3k3	T	C	11: 106,041,215 (GRCm39)	F395L	probably benign	Het
Myof	T	A	19: 37,924,905 (GRCm39)	T1161S	probably damaging	Het
Nlrp9a	T	C	7: 26,257,299 (GRCm39)	S217P	probably damaging	Het
Nol9	T	A	4: 152,142,848 (GRCm39)	N687K	probably benign	Het
Or10ad1	T	C	15: 98,105,381 (GRCm39)	I295V	probably damaging	Het
Or11h23	T	C	14: 50,948,450 (GRCm39)	V221A	possibly damaging	Het
Or2ag15	T	C	7: 106,340,829 (GRCm39)	E104G	probably benign	Het
Or8g33	A	T	9: 39,337,476 (GRCm39)	V297D	probably damaging	Het
Prss1l	A	G	6: 41,373,620 (GRCm39)	D161G	possibly damaging	Het
Rrh	T	C	3: 129,602,618 (GRCm39)	D229G	probably benign	Het
Sclt1	T	C	3: 41,665,610 (GRCm39)	T153A	probably damaging	Het
Slc41a1	G	A	1: 131,766,862 (GRCm39)	V127I	probably damaging	Het
Smarca2	C	T	19: 26,751,694 (GRCm39)	S214L	possibly damaging	Het
Tmem63a	T	C	1: 180,797,797 (GRCm39)	V616A	possibly damaging	Het
Ubr1	A	G	2: 120,771,612 (GRCm39)		probably benign	Het
Vmn1r228	A	G	17: 20,996,774 (GRCm39)	L248P	probably benign	Het
Zdhhc16	T	A	19: 41,929,945 (GRCm39)		probably null	Het

Other mutations in Ighv5-9-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4921:Ighv5-9-1	UTSW	12	113,699,914 (GRCm39)	missense	possibly damaging	0.61
R5161:Ighv5-9-1	UTSW	12	113,699,777 (GRCm39)	missense	possibly damaging	0.70
R5559:Ighv5-9-1	UTSW	12	113,699,745 (GRCm39)	nonsense	probably null
R5678:Ighv5-9-1	UTSW	12	113,700,207 (GRCm39)	missense	possibly damaging	0.72
R7529:Ighv5-9-1	UTSW	12	113,699,954 (GRCm39)	missense	possibly damaging	0.91
R7618:Ighv5-9-1	UTSW	12	113,699,819 (GRCm39)	missense	probably damaging	0.99
R7791:Ighv5-9-1	UTSW	12	113,700,165 (GRCm39)	missense	probably damaging	0.99
R9272:Ighv5-9-1	UTSW	12	113,699,818 (GRCm39)	missense	probably damaging	1.00
R9331:Ighv5-9-1	UTSW	12	113,699,878 (GRCm39)	missense	possibly damaging	0.80
Z1088:Ighv5-9-1	UTSW	12	113,699,740 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07