Mutagenetix > Incidental Mutation

Incidental Mutation 'R9707:Ighv1-53'

729860

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-53

Ensembl Gene

ENSMUSG00000093894

Gene Name

immunoglobulin heavy variable 1-53

Synonyms

V23-D-J-C mu, AB069917

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R9707 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115122065-115122455 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 115122035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 113 (Y113*)

Ref Sequence

ENSEMBL: ENSMUSP00000100304 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103523]

AlphaFold

A0A075B5W3

Predicted Effect

probably null
Transcript: ENSMUST00000103523
AA Change: Y113*

SMART Domains

Protein: ENSMUSP00000100304
Gene: ENSMUSG00000093894
AA Change: Y113*

Domain	Start	End	E-Value	Type
IGv	36	117	3.52e-31	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambra1	G	A	2: 91,640,476 (GRCm39)	R635H	probably damaging	Het
Amz1	T	C	5: 140,733,949 (GRCm39)	V175A	possibly damaging	Het
Arsj	T	C	3: 126,232,160 (GRCm39)	I302T	possibly damaging	Het
Asxl3	A	G	18: 22,656,304 (GRCm39)	E1438G	probably benign	Het
BC016579	C	T	16: 45,460,760 (GRCm39)	E103K	probably damaging	Het
Ccdc54	T	A	16: 50,411,163 (GRCm39)	K34N	possibly damaging	Het
Chac2	T	C	11: 30,929,572 (GRCm39)	D55G	possibly damaging	Het
Cts3	T	A	13: 61,714,649 (GRCm39)	I219F	possibly damaging	Het
Des	A	G	1: 75,337,533 (GRCm39)	M158V	possibly damaging	Het
Dohh	T	C	10: 81,223,565 (GRCm39)	F206S	probably damaging	Het
Dst	T	C	1: 34,228,934 (GRCm39)	S2176P	probably benign	Het
Ecpas	C	T	4: 58,824,816 (GRCm39)		probably null	Het
Epb41l2	G	A	10: 25,378,235 (GRCm39)	V836M	probably damaging	Het
Foxc1	A	T	13: 31,991,882 (GRCm39)	E231V	probably damaging	Het
Ighd	T	A	12: 113,378,108 (GRCm39)	N164Y		Het
Ildr1	A	G	16: 36,529,892 (GRCm39)	D93G	probably damaging	Het
Krt79	T	G	15: 101,839,196 (GRCm39)	E424D	probably benign	Het
Lrp1	T	C	10: 127,408,414 (GRCm39)	E1754G	probably benign	Het
Mbd4	T	A	6: 115,826,559 (GRCm39)	H144L	probably benign	Het
Mcm7	C	A	5: 138,170,000 (GRCm39)	A7S	probably benign	Het
Mmp9	T	A	2: 164,794,605 (GRCm39)	N532K	possibly damaging	Het
Msr1	T	G	8: 40,076,988 (GRCm39)	E207D	probably benign	Het
Neurl4	A	T	11: 69,799,679 (GRCm39)	D994V	probably damaging	Het
Or1e35	A	G	11: 73,798,090 (GRCm39)	V76A	possibly damaging	Het
Or6c69b	T	C	10: 129,627,444 (GRCm39)	T5A	probably damaging	Het
Or8s5	C	T	15: 98,238,154 (GRCm39)	V239I	probably benign	Het
Pcdhgb6	T	C	18: 37,876,768 (GRCm39)	I492T	possibly damaging	Het
Pde4c	A	G	8: 71,202,701 (GRCm39)	D669G	probably benign	Het
Phf3	C	A	1: 30,868,923 (GRCm39)		probably null	Het
Ptpn12	T	A	5: 21,207,620 (GRCm39)	T279S	probably damaging	Het
Rbbp6	A	T	7: 122,589,061 (GRCm39)	T287S	probably damaging	Het
Slc22a21	T	C	11: 53,851,186 (GRCm39)	N192S	probably benign	Het
Slc46a3	G	T	5: 147,821,022 (GRCm39)	H377N	probably benign	Het
Smg9	G	T	7: 24,102,869 (GRCm39)	R16L	probably damaging	Het
Spmip2	A	G	3: 79,313,167 (GRCm39)	I80M	probably damaging	Het
Synj1	A	G	16: 90,758,300 (GRCm39)	V848A	possibly damaging	Het
Taf7	A	T	18: 37,776,053 (GRCm39)	S171R	probably damaging	Het
Trav7-3	A	G	14: 53,681,189 (GRCm39)	E77G	probably benign	Het
Usp16	T	C	16: 87,263,235 (GRCm39)	S146P	probably benign	Het
Vmn1r22	A	T	6: 57,877,890 (GRCm39)	I29K	probably benign	Het
Zfp236	A	G	18: 82,664,328 (GRCm39)	C486R	probably damaging	Het
Zfp329	T	C	7: 12,544,129 (GRCm39)	Q465R	probably benign	Het

Other mutations in Ighv1-53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01815:Ighv1-53	APN	12	115,122,217 (GRCm39)	missense	probably benign	0.01
IGL02326:Ighv1-53	APN	12	115,122,235 (GRCm39)	missense	probably benign	0.21
BB010:Ighv1-53	UTSW	12	115,122,029 (GRCm39)	nonsense	probably null
BB020:Ighv1-53	UTSW	12	115,122,029 (GRCm39)	nonsense	probably null
R3404:Ighv1-53	UTSW	12	115,122,058 (GRCm39)	missense	possibly damaging	0.81
R4020:Ighv1-53	UTSW	12	115,122,442 (GRCm39)	missense	probably benign	0.00
R4169:Ighv1-53	UTSW	12	115,122,166 (GRCm39)	missense	possibly damaging	0.63
R4241:Ighv1-53	UTSW	12	115,122,442 (GRCm39)	missense	probably benign	0.00
R5231:Ighv1-53	UTSW	12	115,122,225 (GRCm39)	missense	probably benign	0.09
R7139:Ighv1-53	UTSW	12	115,122,441 (GRCm39)	nonsense	probably null
R7220:Ighv1-53	UTSW	12	115,122,135 (GRCm39)	missense	probably benign	0.00
R7293:Ighv1-53	UTSW	12	115,122,441 (GRCm39)	nonsense	probably null
R7933:Ighv1-53	UTSW	12	115,122,029 (GRCm39)	nonsense	probably null
R7934:Ighv1-53	UTSW	12	115,122,236 (GRCm39)	nonsense	probably null
R8846:Ighv1-53	UTSW	12	115,122,165 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAAGCACTACAGGACTCTAAGG -3'
(R):5'- AAGCTGTCCTGCAAGGCTTC -3'

Sequencing Primer
(F):5'- GAACACACACTAGAACGGAGTATCTG -3'
(R):5'- AGCTACTGGATGCACTGGG -3'

Posted On

2022-10-06