Mutagenetix > Incidental Mutation

Incidental Mutation 'R4593:Ighv1-9'

344229

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-9

Ensembl Gene

ENSMUSG00000094694

Gene Name

immunoglobulin heavy variable V1-9

Synonyms

Gm16697

MMRRC Submission

041809-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R4593 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114547189-114547482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114547224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 105 (T105A)

Ref Sequence

ENSEMBL: ENSMUSP00000100279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103498] [ENSMUST00000193893]

AlphaFold

A0A075B5T9

Predicted Effect

probably benign
Transcript: ENSMUST00000103498
AA Change: T105A

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000100279
Gene: ENSMUSG00000094694
AA Change: T105A

Domain	Start	End	E-Value	Type
IGv	35	116	1.21e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193893
AA Change: T106A

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000141381
Gene: ENSMUSG00000094694
AA Change: T106A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	4.9e-32	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

96% (45/47)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
Atm	G	T	9: 53,364,894 (GRCm39)	A8E	possibly damaging	Het
Atxn3	A	T	12: 101,889,436 (GRCm39)	M333K	probably benign	Het
Cd86	A	G	16: 36,426,918 (GRCm39)	*310R	probably null	Het
Cyp2s1	ACAGCAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAG	7: 25,515,867 (GRCm39)		probably benign	Het
Dgat1	C	A	15: 76,388,889 (GRCm39)	R111S	probably damaging	Het
Dner	T	C	1: 84,673,449 (GRCm39)	M1V	probably null	Het
Dnhd1	G	A	7: 105,364,653 (GRCm39)	D4240N	probably benign	Het
Emp3	A	G	7: 45,568,777 (GRCm39)	L27P	probably damaging	Het
Glra3	G	T	8: 56,393,916 (GRCm39)	G9V	probably damaging	Het
Gpr149	A	T	3: 62,510,151 (GRCm39)		probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Ldhd	T	C	8: 112,355,996 (GRCm39)	D129G	probably damaging	Het
Lnpep	A	G	17: 17,799,289 (GRCm39)	V122A	probably benign	Het
Lrrc37a	A	G	11: 103,389,795 (GRCm39)	Y1877H	possibly damaging	Het
Med13l	T	C	5: 118,880,625 (GRCm39)	L1239P	probably damaging	Het
Mib1	T	C	18: 10,768,191 (GRCm39)	L480S	possibly damaging	Het
Mkrn3	C	T	7: 62,068,552 (GRCm39)	W413*	probably null	Het
Myo7b	A	G	18: 32,146,428 (GRCm39)	V119A	possibly damaging	Het
Nexn	T	A	3: 151,958,553 (GRCm39)	R113S	probably damaging	Het
Npas3	A	T	12: 54,115,280 (GRCm39)	Q703L	probably benign	Het
Npr2	A	G	4: 43,647,323 (GRCm39)		probably benign	Het
Nub1	A	G	5: 24,914,119 (GRCm39)	Y624C	probably damaging	Het
Obscn	A	C	11: 59,024,075 (GRCm39)	S532A	probably damaging	Het
Or1e33	T	A	11: 73,738,140 (GRCm39)	K270N	probably benign	Het
Or9g20	A	G	2: 85,630,008 (GRCm39)	L202P	probably damaging	Het
Panx2	T	C	15: 88,952,118 (GRCm39)	I195T	probably damaging	Het
Parp11	T	C	6: 127,451,262 (GRCm39)	I104T	probably benign	Het
Pkd1l1	G	T	11: 8,851,253 (GRCm39)	D726E	probably damaging	Het
Pom121l2	C	T	13: 22,168,623 (GRCm39)	R965W	probably damaging	Het
Prrc2c	T	C	1: 162,525,101 (GRCm39)	K502E	probably damaging	Het
Rasa1	T	C	13: 85,386,340 (GRCm39)		probably null	Het
Sva	T	C	6: 42,019,592 (GRCm39)	S151P	possibly damaging	Het
Svep1	T	C	4: 58,091,944 (GRCm39)	N1564D	possibly damaging	Het
Unk	T	C	11: 115,939,882 (GRCm39)	I129T	probably benign	Het
Urb1	T	C	16: 90,584,332 (GRCm39)	D550G	probably damaging	Het
Vmn1r194	T	A	13: 22,428,461 (GRCm39)	M26K	possibly damaging	Het
Vmn1r59	A	T	7: 5,457,686 (GRCm39)	F25I	possibly damaging	Het
Vmn1r88	A	G	7: 12,911,769 (GRCm39)	K42E	probably damaging	Het
Zbtb24	A	G	10: 41,327,953 (GRCm39)	R280G	possibly damaging	Het

Other mutations in Ighv1-9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0054:Ighv1-9	UTSW	12	114,547,602 (GRCm39)	missense	probably benign	0.00
R4426:Ighv1-9	UTSW	12	114,547,416 (GRCm39)	nonsense	probably null
R5045:Ighv1-9	UTSW	12	114,547,440 (GRCm39)	missense	probably damaging	1.00
R5070:Ighv1-9	UTSW	12	114,547,377 (GRCm39)	missense	probably damaging	1.00
R6435:Ighv1-9	UTSW	12	114,547,206 (GRCm39)	missense	probably benign	0.18
R6941:Ighv1-9	UTSW	12	114,547,448 (GRCm39)	missense	probably benign
R8140:Ighv1-9	UTSW	12	114,547,361 (GRCm39)	missense	probably damaging	1.00
R8346:Ighv1-9	UTSW	12	114,547,448 (GRCm39)	missense	probably benign
R9209:Ighv1-9	UTSW	12	114,547,620 (GRCm39)	start codon destroyed	probably null	1.00
R9446:Ighv1-9	UTSW	12	114,547,388 (GRCm39)	missense	probably benign	0.06
Z1176:Ighv1-9	UTSW	12	114,547,454 (GRCm39)	missense	probably benign	0.44
Z1177:Ighv1-9	UTSW	12	114,547,319 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GTCTGTGTGTAGGAAACTAACAAAC -3'
(R):5'- GTGAAGCTTTCCTGCAAGGC -3'

Sequencing Primer
(F):5'- ACGAAAAATAGGCACTCAAAATGG -3'
(R):5'- GAAGCTTTCCTGCAAGGCTACTG -3'

Posted On

2015-09-25