Mutagenetix > Incidental Mutation

Incidental Mutation 'R3982:Ighv1-39'

345319

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-39

Ensembl Gene

ENSMUSG00000095130

Gene Name

immunoglobulin heavy variable 1-39

Synonyms

Gm16964

MMRRC Submission

041608-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R3982 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114878219-114878512 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114878251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 107 (S107T)

Ref Sequence

ENSEMBL: ENSMUSP00000100296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103515]

AlphaFold

A0A075B5V5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103515
AA Change: S107T

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000100296
Gene: ENSMUSG00000095130
AA Change: S107T

Domain	Start	End	E-Value	Type
IGv	36	117	1.17e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192755

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,547,180 (GRCm39)		probably null	Het
Adgrg6	T	C	10: 14,324,589 (GRCm39)	N445S	probably benign	Het
Adgrl3	A	G	5: 81,842,373 (GRCm39)	T902A	possibly damaging	Het
Atf4	T	C	15: 80,141,069 (GRCm39)	V153A	probably benign	Het
Bsn	T	C	9: 107,984,365 (GRCm39)	T3230A	unknown	Het
Cadps2	A	G	6: 23,263,530 (GRCm39)		probably benign	Het
Clca3a1	T	A	3: 144,461,070 (GRCm39)	T194S	probably benign	Het
Cth	A	T	3: 157,619,334 (GRCm39)	L163*	probably null	Het
Flnc	G	A	6: 29,442,940 (GRCm39)	V492M	probably damaging	Het
Frmd6	T	C	12: 70,934,608 (GRCm39)	L269P	probably damaging	Het
Gpr62	G	A	9: 106,342,085 (GRCm39)	A281V	probably benign	Het
Hapln1	T	A	13: 89,753,560 (GRCm39)	F242Y	probably benign	Het
Itga8	A	G	2: 12,305,774 (GRCm39)	V72A	possibly damaging	Het
Kcp	A	T	6: 29,484,636 (GRCm39)	L1314Q	probably damaging	Het
Klre1	T	A	6: 129,560,101 (GRCm39)	C124*	probably null	Het
Lrrk2	T	A	15: 91,593,487 (GRCm39)	M482K	probably benign	Het
Man2b2	T	C	5: 36,971,164 (GRCm39)	N734S	probably benign	Het
Map3k20	C	T	2: 72,268,571 (GRCm39)	T526I	probably damaging	Het
Mdga1	C	A	17: 30,150,238 (GRCm39)	A125S	unknown	Het
Mmd2	T	C	5: 142,550,554 (GRCm39)	Y228C	probably damaging	Het
Mme	T	A	3: 63,235,485 (GRCm39)	Y178N	probably damaging	Het
Nifk	T	A	1: 118,257,282 (GRCm39)	S138R	possibly damaging	Het
Nlrp4b	T	C	7: 10,448,358 (GRCm39)	V187A	possibly damaging	Het
Palmd	T	C	3: 116,717,472 (GRCm39)	T342A	probably benign	Het
Pigo	A	T	4: 43,023,482 (GRCm39)	S231T	probably benign	Het
Pik3cb	G	A	9: 98,928,654 (GRCm39)	T867M	probably benign	Het
Plag1	A	T	4: 3,904,055 (GRCm39)	S379T	probably damaging	Het
Polg2	G	A	11: 106,670,028 (GRCm39)	R81*	probably null	Het
Prpf4b	C	T	13: 35,068,196 (GRCm39)		probably benign	Het
Ptprq	T	A	10: 107,379,257 (GRCm39)	I1981F	probably damaging	Het
Thoc2l	T	C	5: 104,668,889 (GRCm39)	V1137A	probably benign	Het
Usp24	G	A	4: 106,245,080 (GRCm39)	E1307K	probably benign	Het
Vmn2r115	T	A	17: 23,578,948 (GRCm39)	M807K	probably damaging	Het
Wee2	A	T	6: 40,432,175 (GRCm39)	N248I	possibly damaging	Het

Other mutations in Ighv1-39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02895:Ighv1-39	APN	12	114,878,302 (GRCm39)	missense	probably damaging	0.98
R6345:Ighv1-39	UTSW	12	114,878,479 (GRCm39)	missense	possibly damaging	0.79
R7387:Ighv1-39	UTSW	12	114,878,488 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GGACATCCTAGTAAACTGCATGC -3'
(R):5'- CTACAACATGAACTGGGTGAAGC -3'

Sequencing Primer
(F):5'- CATGGATATCCTTCTACAAAGCTG -3'
(R):5'- CAGAGCAATGGAAAGAGCCTTG -3'

Posted On

2015-09-25