Mutagenetix > Incidental Mutations

Incidental Mutation 'R5617:Ighv1-75'

486880

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-75

Ensembl Gene

ENSMUSG00000096020

Gene Name

immunoglobulin heavy variable 1-75

Synonyms

Gm16811

MMRRC Submission

043276-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.267) question?

Stock #

R5617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115833950-115834243 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 115834254 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 16 (G16V)

Ref Sequence

ENSEMBL: ENSMUSP00000100325 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103544]

Predicted Effect

probably benign
Transcript: ENSMUST00000103544
AA Change: G16V

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000100325
Gene: ENSMUSG00000096020
AA Change: G16V

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	2.97e-29	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198144

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,277,891	L645F	probably benign	Het
Acss3	T	C	10: 106,951,990	Y522C	probably damaging	Het
Asb18	A	G	1: 89,954,462	V118A	possibly damaging	Het
Aste1	T	A	9: 105,397,835	C8S	probably benign	Het
Atp10a	A	G	7: 58,803,675	S834G	probably benign	Het
Cdh18	A	G	15: 23,226,768	D105G	probably damaging	Het
Cenpb	T	C	2: 131,179,014	E288G	probably damaging	Het
Clcnka	C	T	4: 141,389,317	G541D	probably null	Het
Dctn3	T	C	4: 41,716,407	I134V	possibly damaging	Het
Dennd4b	T	C	3: 90,275,626	S917P	probably benign	Het
Fam135b	A	T	15: 71,622,016	D21E	probably damaging	Het
Fam174a	T	C	1: 95,314,247	V144A	probably damaging	Het
Fbxo38	A	G	18: 62,505,971	Y1087H	probably damaging	Het
Gm7275	A	T	16: 48,074,164		noncoding transcript	Het
Gm9271	G	T	7: 39,363,652		noncoding transcript	Het
Grm2	T	C	9: 106,651,076		probably null	Het
Hrasls	A	T	16: 29,220,410	R81*	probably null	Het
Htt	T	A	5: 34,870,806	V1802D	possibly damaging	Het
Krt78	G	A	15: 101,947,609	T589I	probably damaging	Het
Lama3	T	C	18: 12,498,936		probably benign	Het
Lbr	A	T	1: 181,828,902	V227D	probably benign	Het
Lsamp	T	C	16: 42,134,423	V211A	probably damaging	Het
Map3k19	G	A	1: 127,822,966	R883C	probably damaging	Het
March8	A	C	6: 116,403,520	I111L	possibly damaging	Het
Mrps10	T	A	17: 47,378,242	M187K	probably benign	Het
Ncdn	G	A	4: 126,745,047	R660C	probably damaging	Het
Notum	A	T	11: 120,656,345	Y332*	probably null	Het
Nr1h5	A	T	3: 102,947,829	L319I	probably damaging	Het
Olfr1082	T	A	2: 86,594,001	I276L	probably benign	Het
Olfr635	A	T	7: 103,979,714	H180L	possibly damaging	Het
Osbpl5	T	C	7: 143,692,947	D765G	possibly damaging	Het
Parp3	C	T	9: 106,474,505	V170M	possibly damaging	Het
Pcdh15	A	G	10: 74,635,672		probably benign	Het
Pcdha9	T	G	18: 36,998,816	S313A	probably benign	Het
Pfkm	A	G	15: 98,122,226	R201G	possibly damaging	Het
Pgm5	G	A	19: 24,750,401	R375*	probably null	Het
Phactr2	A	G	10: 13,474,065	S72P	possibly damaging	Het
Plec	A	G	15: 76,174,532	L3600P	probably damaging	Het
Pou6f1	G	A	15: 100,585,993	T208M	possibly damaging	Het
Rabep1	C	T	11: 70,917,529	S394L	probably damaging	Het
Ranbp2	T	G	10: 58,465,667	F687C	probably damaging	Het
Ranbp6	A	G	19: 29,812,463	F163S	probably damaging	Het
Rcor3	T	C	1: 192,120,130	N240D	probably benign	Het
Samd13	C	A	3: 146,646,310	K95N	probably benign	Het
Slc25a17	G	T	15: 81,360,774		probably benign	Het
Slfn8	G	T	11: 83,004,721	H420N	probably benign	Het
Sptbn5	G	A	2: 120,046,484		probably benign	Het
Stim2	G	A	5: 54,109,733	E21K	probably damaging	Het
Tmem163	A	G	1: 127,551,330	Y151H	possibly damaging	Het
Trio	A	G	15: 27,902,748	I209T	probably benign	Het
Tubal3	T	A	13: 3,933,432	L404H	probably damaging	Het
Ubqln3	A	G	7: 104,142,433	F150S	probably damaging	Het
Ubr5	T	C	15: 38,030,657	S425G	possibly damaging	Het
Vmn2r52	T	A	7: 10,170,934	H326L	probably damaging	Het

Other mutations in Ighv1-75

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00962:Ighv1-75	APN	12	115834263	splice site	probably benign
IGL02342:Ighv1-75	APN	12	115834258	splice site	probably benign
IGL02553:Ighv1-75	APN	12	115834105	missense	probably damaging	1.00
R2696:Ighv1-75	UTSW	12	115834206	missense	probably benign	0.02
R5259:Ighv1-75	UTSW	12	115834177	nonsense	probably null
R5307:Ighv1-75	UTSW	12	115833952	missense	probably damaging	0.99
R5635:Ighv1-75	UTSW	12	115834209	missense	probably benign	0.05
R6074:Ighv1-75	UTSW	12	115834387	missense	probably benign	0.00
R7658:Ighv1-75	UTSW	12	115834111	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- ACAGTAAGTGTGGCCTTGC -3'
(R):5'- TCTCTACACAGTCCCTGACG -3'

Sequencing Primer
(F):5'- GCCCTTGAACTTCTCATTGTAGTAAG -3'
(R):5'- GACACTGACTCTAACCATGGGATG -3'

Posted On

2017-09-12