Mutagenetix > Incidental Mutation

Incidental Mutation 'R8224:Ighv1-75'

636904

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-75

Ensembl Gene

ENSMUSG00000096020

Gene Name

immunoglobulin heavy variable 1-75

Synonyms

Gm16811

MMRRC Submission

067660-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R8224 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115797570-115797863 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115797859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 21 (V21D)

Ref Sequence

ENSEMBL: ENSMUSP00000100325 (fasta)

Gene Model

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

AlphaFold

A0A075B5Y2

Predicted Effect

probably benign
Transcript: ENSMUST00000103544
AA Change: V21D

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000100325
Gene: ENSMUSG00000096020
AA Change: V21D

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.3%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,094,249 (GRCm39)	E45V	probably damaging	Het
Adamts9	A	T	6: 92,773,351 (GRCm39)	V1754D	probably damaging	Het
Ankrd26	G	A	6: 118,502,716 (GRCm39)	T818M	probably damaging	Het
Card11	T	C	5: 140,888,632 (GRCm39)	E242G	possibly damaging	Het
Cdh20	G	T	1: 109,921,933 (GRCm39)	L8F	probably benign	Het
Cenpa	T	C	5: 30,830,699 (GRCm39)		probably benign	Het
Cfap61	T	C	2: 145,781,800 (GRCm39)	V11A	probably benign	Het
Chfr	T	A	5: 110,308,109 (GRCm39)		probably null	Het
Col14a1	A	T	15: 55,271,137 (GRCm39)	Y630F	unknown	Het
Cst5	A	G	2: 149,251,902 (GRCm39)	N126D	possibly damaging	Het
Cubn	T	C	2: 13,354,688 (GRCm39)	T1903A	probably benign	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Gon4l	A	G	3: 88,802,449 (GRCm39)	E1020G	probably damaging	Het
Gp1ba	A	G	11: 70,530,683 (GRCm39)	N150D	unknown	Het
Gstm2	T	C	3: 107,891,314 (GRCm39)	I169V	probably benign	Het
Il7	T	C	3: 7,642,308 (GRCm39)	M51V	possibly damaging	Het
Insm2	A	T	12: 55,646,763 (GRCm39)	D169V	probably damaging	Het
Jmjd1c	A	G	10: 67,080,628 (GRCm39)	D373G	noncoding transcript	Het
Kif16b	T	C	2: 142,676,008 (GRCm39)	N431D	probably benign	Het
Kmt2a	A	C	9: 44,719,326 (GRCm39)	I3925S	unknown	Het
Lgi4	G	A	7: 30,763,017 (GRCm39)	C164Y	probably damaging	Het
Lrfn5	A	T	12: 61,890,192 (GRCm39)	I494F	possibly damaging	Het
Map9	T	C	3: 82,266,370 (GRCm39)	I5T	probably benign	Het
Ncf2	T	C	1: 152,706,144 (GRCm39)	V252A	possibly damaging	Het
Nlrp4g	A	T	9: 124,353,374 (GRCm38)	I573F	noncoding transcript	Het
Nrn1	G	A	13: 36,918,258 (GRCm39)	L3F	probably damaging	Het
Or1ab2	A	G	8: 72,864,223 (GRCm39)	D271G	noncoding transcript	Het
Or2d2	T	A	7: 106,728,079 (GRCm39)	I174F	probably damaging	Het
Or5h24	A	T	16: 58,919,117 (GRCm39)	D79E	unknown	Het
Or6c8	A	G	10: 128,915,304 (GRCm39)	F176S	possibly damaging	Het
Otop1	C	A	5: 38,457,846 (GRCm39)	T535K	possibly damaging	Het
Pacs2	A	G	12: 113,023,380 (GRCm39)	T333A	probably damaging	Het
Pax3	T	C	1: 78,098,327 (GRCm39)	Y354C	probably damaging	Het
Phlpp1	T	C	1: 106,320,348 (GRCm39)	S1448P	probably damaging	Het
Pias4	C	A	10: 81,003,565 (GRCm39)		probably benign	Het
Ppp1r12b	T	C	1: 134,830,200 (GRCm39)	N113S	probably benign	Het
Ptpn12	G	T	5: 21,203,656 (GRCm39)	P374Q	probably damaging	Het
Reg4	A	T	3: 98,132,011 (GRCm39)		probably benign	Het
Sh3bp5	T	C	14: 31,099,473 (GRCm39)	D256G	probably damaging	Het
Slc25a32	C	G	15: 38,976,015 (GRCm39)		probably benign	Het
Tnip2	C	T	5: 34,671,003 (GRCm39)	R80Q	possibly damaging	Het
Uroc1	A	G	6: 90,321,049 (GRCm39)		probably null	Het
Washc2	A	C	6: 116,218,457 (GRCm39)	K634T	probably damaging	Het
Xpot	A	T	10: 121,443,513 (GRCm39)	Y405N	probably damaging	Het
Yes1	T	C	5: 32,816,417 (GRCm39)	Y365H	probably benign	Het
Zfp607a	A	T	7: 27,577,536 (GRCm39)	E202V	probably damaging	Het
Zfp932	T	C	5: 110,144,480 (GRCm39)		probably benign	Het
Zfp947	A	C	17: 22,364,363 (GRCm39)	M437R	probably benign	Het
Zscan10	A	G	17: 23,828,366 (GRCm39)	T303A	probably benign	Het

Other mutations in Ighv1-75

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00962:Ighv1-75	APN	12	115,797,883 (GRCm39)	splice site	probably benign
IGL02342:Ighv1-75	APN	12	115,797,878 (GRCm39)	splice site	probably benign
IGL02553:Ighv1-75	APN	12	115,797,725 (GRCm39)	missense	probably damaging	1.00
R2696:Ighv1-75	UTSW	12	115,797,826 (GRCm39)	missense	probably benign	0.02
R5259:Ighv1-75	UTSW	12	115,797,797 (GRCm39)	nonsense	probably null
R5307:Ighv1-75	UTSW	12	115,797,572 (GRCm39)	missense	probably damaging	0.99
R5617:Ighv1-75	UTSW	12	115,797,874 (GRCm39)	missense	probably benign	0.32
R5635:Ighv1-75	UTSW	12	115,797,829 (GRCm39)	missense	probably benign	0.05
R6074:Ighv1-75	UTSW	12	115,798,007 (GRCm39)	missense	probably benign	0.00
R7658:Ighv1-75	UTSW	12	115,797,731 (GRCm39)	missense	possibly damaging	0.84
R7873:Ighv1-75	UTSW	12	115,797,988 (GRCm39)	missense	probably damaging	1.00
R8237:Ighv1-75	UTSW	12	115,797,876 (GRCm39)	critical splice acceptor site	probably benign
R9709:Ighv1-75	UTSW	12	115,797,791 (GRCm39)	missense	possibly damaging	0.94
R9777:Ighv1-75	UTSW	12	115,797,655 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2020-07-13