Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02320:Ighv1-20'

288188

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv1-20

Ensembl Gene

ENSMUSG00000095761

Gene Name

immunoglobulin heavy variable V1-20

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

IGL02320

Quality Score

Status

Chromosome

Chromosomal Location

114687392-114687685 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114687463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 94 (S94P)

Ref Sequence

ENSEMBL: ENSMUSP00000141859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103506] [ENSMUST00000194968]

AlphaFold

A0A075B5U6

Predicted Effect

probably damaging
Transcript: ENSMUST00000103506
AA Change: S93P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000100287
Gene: ENSMUSG00000095761
AA Change: S93P

Domain	Start	End	E-Value	Type
IGv	35	116	1.42e-26	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000194968
AA Change: S94P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141859
Gene: ENSMUSG00000095761
AA Change: S94P

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	5.7e-29	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,445,961 (GRCm39)	S146P	probably damaging	Het
Ap1m2	A	T	9: 21,210,620 (GRCm39)	Y336*	probably null	Het
Arap1	T	C	7: 101,034,236 (GRCm39)	L226P	probably benign	Het
Cacna1c	T	A	6: 118,614,753 (GRCm39)	N1150Y	probably damaging	Het
Ccsap	G	T	8: 124,569,177 (GRCm39)	H221Q	probably damaging	Het
Ceacam3	T	A	7: 16,895,865 (GRCm39)	Y612N	probably benign	Het
Col12a1	A	G	9: 79,523,303 (GRCm39)		probably null	Het
Ddx23	T	C	15: 98,548,819 (GRCm39)	T328A	possibly damaging	Het
Depdc1a	T	A	3: 159,222,570 (GRCm39)	M252K	probably damaging	Het
Fpr2	A	C	17: 18,113,608 (GRCm39)	R201S	probably benign	Het
Itgb7	A	C	15: 102,132,772 (GRCm39)	V180G	probably benign	Het
Mmp13	G	T	9: 7,278,941 (GRCm39)	R344L	probably benign	Het
Mucl3	A	T	17: 35,948,332 (GRCm39)	N422K	probably benign	Het
Ncam2	C	T	16: 81,231,725 (GRCm39)	S63L	probably damaging	Het
Or5p52	C	T	7: 107,502,038 (GRCm39)	T38I	possibly damaging	Het
Pde9a	G	A	17: 31,678,059 (GRCm39)	C187Y	probably damaging	Het
Sh2b1	A	G	7: 126,068,341 (GRCm39)	L490P	probably benign	Het
Shank2	A	G	7: 143,974,681 (GRCm39)	T1193A	probably damaging	Het
Shisa2	T	A	14: 59,867,246 (GRCm39)	M166K	probably damaging	Het
Smg7	A	T	1: 152,744,088 (GRCm39)	S40T	possibly damaging	Het
Spef2	A	C	15: 9,717,662 (GRCm39)	S285A	probably damaging	Het
Tlcd3a	A	G	11: 76,096,231 (GRCm39)	M120V	probably damaging	Het
Trgv7	C	A	13: 19,362,249 (GRCm39)	P13Q	unknown	Het
Ttn	A	G	2: 76,769,656 (GRCm39)		probably benign	Het
Tyw5	A	G	1: 57,435,884 (GRCm39)		probably null	Het
Vars2	A	G	17: 35,971,346 (GRCm39)	V212A	probably benign	Het
Vmn2r1	T	C	3: 63,989,180 (GRCm39)	S40P	possibly damaging	Het
Wwc2	A	G	8: 48,316,882 (GRCm39)		probably null	Het
Zbed6	T	C	1: 133,585,411 (GRCm39)	N642S	probably damaging	Het
Zfp423	A	T	8: 88,508,230 (GRCm39)	C580S	probably damaging	Het
Zfp64	A	G	2: 168,768,118 (GRCm39)	V498A	probably damaging	Het

Other mutations in Ighv1-20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2427:Ighv1-20	UTSW	12	114,687,692 (GRCm39)	synonymous	silent
R4274:Ighv1-20	UTSW	12	114,687,819 (GRCm39)	missense	probably damaging	1.00
R5472:Ighv1-20	UTSW	12	114,687,471 (GRCm39)	missense	probably damaging	0.97
R5778:Ighv1-20	UTSW	12	114,687,497 (GRCm39)	missense	probably benign	0.11
R6288:Ighv1-20	UTSW	12	114,687,519 (GRCm39)	missense	probably benign	0.09
R7318:Ighv1-20	UTSW	12	114,687,810 (GRCm39)	missense	possibly damaging	0.93
R8063:Ighv1-20	UTSW	12	114,687,405 (GRCm39)	missense	probably damaging	1.00
R8343:Ighv1-20	UTSW	12	114,687,810 (GRCm39)	missense	probably benign	0.00
R8381:Ighv1-20	UTSW	12	114,687,501 (GRCm39)	missense	probably benign	0.03

Posted On

2015-04-16