Mutagenetix > Incidental Mutation

Incidental Mutation 'R2427:Ighv1-20'

324778

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-20

Ensembl Gene

ENSMUSG00000095761

Gene Name

immunoglobulin heavy variable V1-20

Synonyms

MMRRC Submission

040389-MU

Accession Numbers

Essential gene?

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

Stock #

R2427 (G1)

Quality Score

183

Status

Validated

Chromosome

Chromosomal Location

114687392-114687685 bp(-) (GRCm39)

Type of Mutation

synonymous

DNA Base Change (assembly)

C to T at 114687692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141859 (fasta)

Gene Model

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

AlphaFold

A0A075B5U6

Predicted Effect

silent
Transcript: ENSMUST00000103506

SMART Domains

Protein: ENSMUSP00000100287
Gene: ENSMUSG00000095761

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

Predicted Effect

silent
Transcript: ENSMUST00000194968

SMART Domains

Protein: ENSMUSP00000141859
Gene: ENSMUSG00000095761

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankmy1	A	G	1: 92,798,529 (GRCm39)		probably null	Het
Atp2a1	T	A	7: 126,045,755 (GRCm39)	*995L	probably null	Het
Axin2	T	A	11: 108,814,800 (GRCm39)	N229K	possibly damaging	Het
Capn13	A	T	17: 73,633,312 (GRCm39)		probably benign	Het
Ccdc180	A	G	4: 45,929,545 (GRCm39)	I1202V	probably benign	Het
Cep295	A	G	9: 15,245,534 (GRCm39)	L974P	probably damaging	Het
Cers3	T	C	7: 66,445,541 (GRCm39)	Y321H	probably benign	Het
Chrnb4	T	C	9: 54,942,101 (GRCm39)	Y391C	probably benign	Het
Ciao1	T	C	2: 127,088,611 (GRCm39)	H104R	probably damaging	Het
Cldn4	A	T	5: 134,975,331 (GRCm39)	V90E	probably damaging	Het
Crbn	T	C	6: 106,760,433 (GRCm39)	E253G	probably damaging	Het
Ctns	A	G	11: 73,087,512 (GRCm39)	W5R	probably damaging	Het
Eme1	G	A	11: 94,541,801 (GRCm39)		probably benign	Het
Fat2	T	A	11: 55,201,638 (GRCm39)	T479S	probably benign	Het
Fbxw25	T	C	9: 109,481,928 (GRCm39)	N253D	probably benign	Het
Fer	A	G	17: 64,264,298 (GRCm39)	I39V	probably benign	Het
Fmnl2	A	G	2: 53,006,991 (GRCm39)	M768V	probably damaging	Het
Frg1	T	C	8: 41,867,903 (GRCm39)	K24E	probably damaging	Het
I830077J02Rik	G	T	3: 105,835,320 (GRCm39)	A19D	probably damaging	Het
Igsf9	A	G	1: 172,318,306 (GRCm39)	S149G	probably damaging	Het
Klra10	T	A	6: 130,256,298 (GRCm39)	I119F	probably benign	Het
Lrrc4b	T	A	7: 44,111,976 (GRCm39)	I616N	probably damaging	Het
Lrrc71	T	C	3: 87,653,309 (GRCm39)	T64A	probably benign	Het
Ly9	A	T	1: 171,434,800 (GRCm39)	I31N	probably damaging	Het
Mef2a	A	G	7: 66,915,808 (GRCm39)	S165P	probably damaging	Het
Nol4	T	G	18: 22,983,755 (GRCm39)		probably benign	Het
Nt5el	T	C	13: 105,246,269 (GRCm39)	F277L	probably benign	Het
Plxnd1	C	T	6: 115,944,709 (GRCm39)		probably null	Het
Rab27b	T	C	18: 70,129,205 (GRCm39)	T30A	probably damaging	Het
Rasa4	A	G	5: 136,130,881 (GRCm39)	D384G	probably benign	Het
Slx4	G	A	16: 3,806,851 (GRCm39)	L531F	probably damaging	Het
Tafa4	C	T	6: 96,991,328 (GRCm39)		probably benign	Het
Tgm1	C	T	14: 55,949,557 (GRCm39)		probably null	Het
Tpm2	T	C	4: 43,523,306 (GRCm39)	N17D	probably damaging	Het
Tyrp1	A	G	4: 80,769,108 (GRCm39)	T134A	probably benign	Het
Zfand6	T	A	7: 84,283,498 (GRCm39)	K35*	probably null	Het
Zfp648	G	A	1: 154,080,819 (GRCm39)	C326Y	probably damaging	Het

Other mutations in Ighv1-20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02320:Ighv1-20	APN	12	114,687,463 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- CTACAGTCAATGTGGCCTTGC -3'
(R):5'- GATCACTGTCCTCTCCACAG -3'

Sequencing Primer
(F):5'- CCCTTGAACTTCTGGTTGTAGAAAG -3'
(R):5'- GTCCCTGAAGACACTGACTC -3'

Posted On

2015-06-29