Mutagenetix > Incidental Mutation

Incidental Mutation 'R6448:Ighv1-19'

519262

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-19

Ensembl Gene

ENSMUSG00000096410

Gene Name

immunoglobulin heavy variable V1-19

Synonyms

Gm16855

MMRRC Submission

044584-MU

Accession Numbers

Essential gene?

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

Stock #

R6448 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114672268-114672561 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114672296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 107 (E107G)

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: E107G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000100286
Gene: ENSMUSG00000096410
AA Change: E107G

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: E108G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141737
Gene: ENSMUSG00000096410
AA Change: E108G

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

97% (32/33)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap5	A	T	12: 52,564,446 (GRCm39)	K472N	probably benign	Het
C2	T	G	17: 35,082,335 (GRCm39)	D298A	possibly damaging	Het
Col16a1	T	G	4: 129,952,781 (GRCm39)	L409R	probably damaging	Het
Dlgap1	A	G	17: 70,900,325 (GRCm39)	E380G	possibly damaging	Het
Fam111a	C	A	19: 12,565,701 (GRCm39)	H483Q	probably benign	Het
Fancc	C	T	13: 63,488,242 (GRCm39)	R246Q	probably damaging	Het
Glb1	A	T	9: 114,263,499 (GRCm39)	Q256L	probably damaging	Het
Gm9195	A	T	14: 72,671,451 (GRCm39)	D2611E	possibly damaging	Het
Gsto1	C	T	19: 47,846,420 (GRCm39)	T89I	probably benign	Het
Hmcn2	A	G	2: 31,310,832 (GRCm39)	S3359G	probably benign	Het
Hook3	T	A	8: 26,583,692 (GRCm39)	N87I	probably benign	Het
Htt	T	A	5: 35,033,336 (GRCm39)	M1868K	probably benign	Het
Il20rb	A	T	9: 100,356,986 (GRCm39)	M48K	probably benign	Het
Inpp5j	T	C	11: 3,445,387 (GRCm39)	H822R	probably damaging	Het
Kif14	G	T	1: 136,431,085 (GRCm39)	V1161F	probably damaging	Het
Klhdc2	T	A	12: 69,350,694 (GRCm39)	D169E	probably benign	Het
Ly75	A	G	2: 60,129,389 (GRCm39)		probably null	Het
Myh15	T	G	16: 48,992,295 (GRCm39)	S1590A	probably damaging	Het
Ncbp2	CGTCTGGATG	CG	16: 31,775,161 (GRCm39)		probably null	Het
Neb	T	C	2: 52,038,826 (GRCm39)	D6748G	probably damaging	Het
Nfrkb	T	C	9: 31,306,085 (GRCm39)	Y142H	probably damaging	Het
Or6c208	A	T	10: 129,224,021 (GRCm39)	D173V	probably damaging	Het
Or7a39	G	A	10: 78,715,516 (GRCm39)	C170Y	possibly damaging	Het
Or8k20	T	A	2: 86,106,691 (GRCm39)	I47F	probably benign	Het
Prm2	G	A	16: 10,609,825 (GRCm39)		probably benign	Het
Ralgapa1	T	C	12: 55,766,446 (GRCm39)	T1283A	probably benign	Het
Rest	T	C	5: 77,429,318 (GRCm39)	L579P	possibly damaging	Het
Slc6a1	C	T	6: 114,279,047 (GRCm39)	T46I	possibly damaging	Het
Tcf20	A	G	15: 82,736,861 (GRCm39)	I1530T	probably benign	Het
Tox	T	G	4: 6,822,975 (GRCm39)	D114A	probably benign	Het
Ulk4	C	T	9: 120,932,696 (GRCm39)	G1048D	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
R3729:Ighv1-19	UTSW	12	114,672,497 (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
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

PCR Primer
(F):5'- CATGGATGGCCTTGTGCAAAG -3'
(R):5'- TCTGGATACACATTCACTGACTAC -3'

Sequencing Primer
(F):5'- TCTCTAAGCCTTGTCAGTC -3'
(R):5'- CACTGACTACTATATGAACTGGGTG -3'

Posted On

2018-05-24