Mutagenetix > Incidental Mutations

Incidental Mutation 'R4381:Ighv1-62-1'

325342

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-62-1

Ensembl Gene

ENSMUSG00000102313

Gene Name

immunoglobulin heavy variable 1-62-1

Synonyms

Gm9232

MMRRC Submission

041122-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.361) question?

Stock #

R4381 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115386697-115387128 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115386993 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 18 (H18L)

Ref Sequence

ENSEMBL: ENSMUSP00000100284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103503] [ENSMUST00000171270]

Predicted Effect

probably benign
Transcript: ENSMUST00000103503
AA Change: H18L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000100284
Gene: ENSMUSG00000102313
AA Change: H18L

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	116	4.4e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193799

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk1	C	T	3: 127,729,373	V7M	probably damaging	Het
Dlgap2	A	G	8: 14,846,502	I993V	probably benign	Het
Dst	T	C	1: 34,163,235	S215P	probably damaging	Het
Eml5	A	G	12: 98,815,955	I1359T	possibly damaging	Het
Eps15	G	A	4: 109,366,530		probably benign	Het
Gpr158	T	A	2: 21,827,592	W1168R	probably damaging	Het
Il18r1	A	G	1: 40,471,790	I12V	probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Mib2	G	C	4: 155,657,612	A234G	possibly damaging	Het
Mtpap	T	C	18: 4,383,223	F200S	probably benign	Het
Nacad	T	A	11: 6,600,204	T996S	probably benign	Het
Nek9	T	A	12: 85,329,858	T250S	probably damaging	Het
Nif3l1	A	C	1: 58,455,579		probably benign	Het
Nipbl	A	G	15: 8,359,206	V310A	probably benign	Het
Olfr119	G	T	17: 37,700,899	E76D	probably damaging	Het
Olfr854	A	G	9: 19,566,742	L211P	probably benign	Het
Pbrm1	T	C	14: 31,025,556	V33A	probably benign	Het
Pcdha4	A	G	18: 36,952,875	E37G	probably damaging	Het
Pdgfc	A	G	3: 81,209,251	K304R	probably damaging	Het
Peak1	G	T	9: 56,258,427	A739E	probably benign	Het
Pla2g4c	A	T	7: 13,346,065	N433Y	probably damaging	Het
Polrmt	A	C	10: 79,741,808	L319R	possibly damaging	Het
Prkaa1	A	T	15: 5,176,808	T373S	probably benign	Het
Qars	G	A	9: 108,510,183		probably benign	Het
Ranbp1	G	A	16: 18,247,344	L33F	probably damaging	Het
Rpgrip1	C	T	14: 52,150,449	P1094L	possibly damaging	Het
Taf1d	T	A	9: 15,311,981		probably benign	Het
Tstd2	T	C	4: 46,119,933	K340E	probably benign	Het
Vmn2r45	A	T	7: 8,471,913	C705*	probably null	Het
Vrk3	C	T	7: 44,775,442	T427M	probably benign	Het
Zdhhc16	A	G	19: 41,940,654	Y232C	possibly damaging	Het
Zfp1	T	A	8: 111,670,451	L354Q	probably damaging	Het
Zyg11a	G	A	4: 108,201,320	A341V	possibly damaging	Het

Other mutations in Ighv1-62-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2571:Ighv1-62-1	UTSW	12	115386757	missense	probably damaging	0.99
R6670:Ighv1-62-1	UTSW	12	115386909	missense	probably damaging	1.00
R6730:Ighv1-62-1	UTSW	12	115386892	missense	probably benign	0.01
R7241:Ighv1-62-1	UTSW	12	115386702	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACAGTCAATGTGGCCTTGC -3'
(R):5'- GATCAGTGTCCTCTCCACAGTC -3'

Sequencing Primer
(F):5'- GGCCTTGCCCTTGAACTTC -3'
(R):5'- GTCCCTGCACACACTGACTC -3'

Posted On

2015-07-06