Mutagenetix > Incidental Mutations

Incidental Mutation 'BB010:Ighv1-53'

642594

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-53

Ensembl Gene

ENSMUSG00000093894

Gene Name

immunoglobulin heavy variable 1-53

Synonyms

AB069917, V23-D-J-C mu

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

BB010

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115158403-115158835 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 115158409 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 115 (C115*)

Ref Sequence

ENSEMBL: ENSMUSP00000100304 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000103523
AA Change: C115*

SMART Domains

Protein: ENSMUSP00000100304
Gene: ENSMUSG00000093894
AA Change: C115*

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: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	G	13: 59,743,751	L85P	probably damaging	Het
4933414I15Rik	A	G	11: 50,942,400	V125A	unknown	Het
Adam34	T	A	8: 43,650,874	H578L	probably damaging	Het
Ago4	A	T	4: 126,507,018	M678K	probably benign	Het
Atrn	T	C	2: 130,995,066	L1150P	probably damaging	Het
Camta1	C	T	4: 151,083,757	E279K	probably damaging	Het
Ccdc88c	T	C	12: 100,945,490	D695G	possibly damaging	Het
Col11a2	A	T	17: 34,056,055	K400*	probably null	Het
Cpsf4	T	A	5: 145,167,358	M1K	probably null	Het
Dnah12	A	T	14: 26,766,115	Q992L	probably benign	Het
Dnajc7	T	C	11: 100,596,212	Y145C	probably damaging	Het
Eml5	A	T	12: 98,844,020	D892E	possibly damaging	Het
Fam193a	A	G	5: 34,466,195	K23E	possibly damaging	Het
Fam214b	A	T	4: 43,035,919	C271S	probably benign	Het
Filip1	T	G	9: 79,820,047	K430T	possibly damaging	Het
Gm5089	T	C	14: 122,435,991	D106G	unknown	Het
Hip1	A	T	5: 135,460,456	N45K	probably damaging	Het
Hivep2	T	C	10: 14,127,837	S60P	probably damaging	Het
Macf1	T	C	4: 123,409,651	T353A	probably benign	Het
Mast3	A	T	8: 70,786,635	V433E	probably damaging	Het
Mast4	A	T	13: 102,772,563	M660K	probably damaging	Het
Nr2e1	T	C	10: 42,563,383	Y380C	probably damaging	Het
Olfr1465	T	A	19: 13,314,205	M27L	probably benign	Het
Olfr980	T	C	9: 40,007,135		probably benign	Het
Otog	A	G	7: 46,310,147	D720G	probably damaging	Het
Slc6a1	T	A	6: 114,311,898	W473R	probably damaging	Het
Smpd3	A	C	8: 106,255,622	C617G	probably benign	Het
Sprr3	T	C	3: 92,457,208	I110V	possibly damaging	Het
Ston1	A	G	17: 88,636,144	E326G	probably benign	Het
Tapbpl	T	G	6: 125,230,270	Q152P	probably damaging	Het
Tectb	C	T	19: 55,194,673	L319F	possibly damaging	Het
Tpp2	G	A	1: 43,960,961	G413D	probably damaging	Het
Tpsg1	A	G	17: 25,373,204	H84R	probably damaging	Het
Usp24	A	G	4: 106,428,489	N2437S	probably benign	Het
Usp32	T	C	11: 85,007,059	Q1152R	probably damaging	Het
Vmn2r6	T	C	3: 64,559,803	T92A	probably benign	Het
Xpo7	A	G	14: 70,707,348	V35A	probably benign	Het
Zan	T	A	5: 137,463,579	T1113S	unknown	Het
Zfp169	A	G	13: 48,490,481	V390A	unknown	Het

Other mutations in Ighv1-53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01815:Ighv1-53	APN	12	115158597	missense	probably benign	0.01
IGL02326:Ighv1-53	APN	12	115158615	missense	probably benign	0.21
BB020:Ighv1-53	UTSW	12	115158409	nonsense	probably null
R3404:Ighv1-53	UTSW	12	115158438	missense	possibly damaging	0.81
R4020:Ighv1-53	UTSW	12	115158822	missense	probably benign	0.00
R4169:Ighv1-53	UTSW	12	115158546	missense	possibly damaging	0.63
R4241:Ighv1-53	UTSW	12	115158822	missense	probably benign	0.00
R5231:Ighv1-53	UTSW	12	115158605	missense	probably benign	0.09
R7139:Ighv1-53	UTSW	12	115158821	nonsense	probably null
R7220:Ighv1-53	UTSW	12	115158515	missense	probably benign	0.00
R7293:Ighv1-53	UTSW	12	115158821	nonsense	probably null
R7933:Ighv1-53	UTSW	12	115158409	nonsense	probably null
R7934:Ighv1-53	UTSW	12	115158616	nonsense	probably null
R8846:Ighv1-53	UTSW	12	115158545	missense	probably damaging	0.99

Predicted Primers

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

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

Posted On

2020-08-01