Mutagenetix > Incidental Mutation

Incidental Mutation 'R3729:Ighv1-19'

473397

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-19

Ensembl Gene

ENSMUSG00000096410

Gene Name

immunoglobulin heavy variable V1-19

Synonyms

Gm16855

MMRRC Submission

040719-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R3729 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114672268-114672561 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 114672497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 40 (C40F)

Ref Sequence

ENSEMBL: ENSMUSP00000100286 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103505] [ENSMUST00000193855]

AlphaFold

A0A075B5U5

Predicted Effect

probably damaging
Transcript: ENSMUST00000103505
AA Change: C40F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100286
Gene: ENSMUSG00000096410
AA Change: C40F

Domain	Start	End	E-Value	Type
IGv	35	116	8.41e-29	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192823

Predicted Effect

probably damaging
Transcript: ENSMUST00000193855
AA Change: C41F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000141737
Gene: ENSMUSG00000096410
AA Change: C41F

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	3.5e-31	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	G	5: 114,345,409 (GRCm39)	D954G	probably damaging	Het
Acvr1	T	C	2: 58,352,925 (GRCm39)	K345R	probably null	Het
Aldoart2	A	G	12: 55,613,104 (GRCm39)	Y343C	probably damaging	Het
Arpp21	T	A	9: 111,895,047 (GRCm39)	Y739F	possibly damaging	Het
Cachd1	C	A	4: 100,832,077 (GRCm39)	Y746*	probably null	Het
Card14	T	C	11: 119,224,758 (GRCm39)	V595A	probably damaging	Het
Dhx33	T	C	11: 70,879,978 (GRCm39)	D344G	probably benign	Het
Dnah12	T	A	14: 26,427,220 (GRCm39)	D171E	probably benign	Het
Fat3	A	G	9: 16,158,337 (GRCm39)		probably benign	Het
Fmnl3	A	G	15: 99,219,745 (GRCm39)	F668L	probably damaging	Het
Frmpd4	G	A	X: 166,269,803 (GRCm39)	T493M	probably damaging	Het
Gcn1	A	T	5: 115,721,453 (GRCm39)		probably benign	Het
Hspbp1	G	T	7: 4,680,808 (GRCm39)	Q223K	probably damaging	Het
Igkv4-90	A	G	6: 68,784,665 (GRCm39)	F10L	probably benign	Het
Kctd5	T	C	17: 24,278,212 (GRCm39)	D146G	probably benign	Het
Kif4-ps	A	G	12: 101,112,369 (GRCm39)	E166G	probably damaging	Het
Lemd3	T	C	10: 120,763,920 (GRCm39)	D780G	probably damaging	Het
Manba	G	A	3: 135,260,611 (GRCm39)	V599I	probably benign	Het
Map2	A	G	1: 66,451,605 (GRCm39)	E247G	possibly damaging	Het
Mfsd1	T	C	3: 67,490,298 (GRCm39)	F50L	probably benign	Het
Mier2	T	C	10: 79,380,876 (GRCm39)		probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nol10	A	T	12: 17,474,674 (GRCm39)	K622I	probably benign	Het
Or5p62	A	T	7: 107,771,516 (GRCm39)	I145N	probably benign	Het
Or8d2b	T	C	9: 38,788,547 (GRCm39)	F25S	probably damaging	Het
Phtf1	A	G	3: 103,893,095 (GRCm39)	M120V	probably benign	Het
Prrx1	A	G	1: 163,089,446 (GRCm39)	L127P	probably damaging	Het
Rbsn	T	C	6: 92,168,316 (GRCm39)	M373V	possibly damaging	Het
Sec24b	T	C	3: 129,827,482 (GRCm39)	K203R	possibly damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc16a10	G	C	10: 39,932,620 (GRCm39)	H314D	possibly damaging	Het
Slc4a7	A	T	14: 14,729,276 (GRCm38)	E47D	probably damaging	Het
Taf12	C	A	4: 132,010,265 (GRCm39)	P78Q	probably damaging	Het
Tnn	A	G	1: 159,973,810 (GRCm39)	C186R	probably damaging	Het
Trim46	T	A	3: 89,142,256 (GRCm39)	T721S	probably benign	Het
Trip4	T	C	9: 65,788,224 (GRCm39)	N74D	possibly damaging	Het
Tssk5	C	T	15: 76,257,096 (GRCm39)	R262H	probably benign	Het
Vegfa	T	C	17: 46,335,446 (GRCm39)	I105V	possibly damaging	Het
Vmn2r14	T	C	5: 109,364,095 (GRCm39)	Y607C	probably damaging	Het
Wdr83	G	T	8: 85,806,968 (GRCm39)	H66Q	probably damaging	Het
Zfp280b	A	G	10: 75,874,936 (GRCm39)	T272A	probably benign	Het
Zfp960	T	A	17: 17,308,633 (GRCm39)	L449H	probably damaging	Het

Other mutations in Ighv1-19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Ighv1-19	APN	12	114,672,329 (GRCm39)	missense	probably benign	0.15
IGL00966:Ighv1-19	APN	12	114,672,569 (GRCm39)	missense	possibly damaging	0.51
IGL02545:Ighv1-19	APN	12	114,672,359 (GRCm39)	missense	probably damaging	1.00
R3730:Ighv1-19	UTSW	12	114,672,497 (GRCm39)	missense	probably damaging	1.00
R3731:Ighv1-19	UTSW	12	114,672,497 (GRCm39)	missense	probably damaging	1.00
R4093:Ighv1-19	UTSW	12	114,672,350 (GRCm39)	missense	probably damaging	1.00
R4969:Ighv1-19	UTSW	12	114,672,377 (GRCm39)	missense	probably benign	0.12
R5021:Ighv1-19	UTSW	12	114,672,686 (GRCm39)	missense	probably benign	0.00
R6448:Ighv1-19	UTSW	12	114,672,296 (GRCm39)	missense	probably damaging	1.00
R7335:Ighv1-19	UTSW	12	114,672,571 (GRCm39)	critical splice acceptor site	probably benign
R8364:Ighv1-19	UTSW	12	114,672,546 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

Posted On

2017-04-14