Mutagenetix > Incidental Mutation

Incidental Mutation 'R7676:Ighv10-3'

592470

Institutional Source

Beutler Lab

Gene Symbol

Ighv10-3

Ensembl Gene

ENSMUSG00000095700

Gene Name

immunoglobulin heavy variable V10-3

Synonyms

MMRRC Submission

045647-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R7676 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114487061-114487507 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114487299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 41 (C41R)

Ref Sequence

ENSEMBL: ENSMUSP00000100276 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103495]

AlphaFold

A0A075B5T6

Predicted Effect

probably damaging
Transcript: ENSMUST00000103495
AA Change: C41R

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

SMART Domains

Protein: ENSMUSP00000100276
Gene: ENSMUSG00000095700
AA Change: C41R

Domain	Start	End	E-Value	Type
IGv	36	119	4.79e-33	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,185,813 (GRCm39)	D116G	possibly damaging	Het
Adam6a	G	A	12: 113,508,196 (GRCm39)	G190S	probably benign	Het
Adnp	G	A	2: 168,025,367 (GRCm39)	R643*	probably null	Het
Akap6	A	G	12: 52,933,633 (GRCm39)	D375G	possibly damaging	Het
Aldh1l2	G	T	10: 83,343,975 (GRCm39)	A480E	probably benign	Het
Ccdc175	T	A	12: 72,148,821 (GRCm39)	Q779L	possibly damaging	Het
Dnah7b	T	G	1: 46,273,324 (GRCm39)	L2484*	probably null	Het
Dnajc21	T	C	15: 10,462,430 (GRCm39)	Y65C	possibly damaging	Het
Dnhd1	C	A	7: 105,333,294 (GRCm39)	N255K	probably benign	Het
Efhc1	G	T	1: 21,037,593 (GRCm39)	G257W	probably damaging	Het
Fars2	C	A	13: 36,389,026 (GRCm39)	L172I	probably benign	Het
Fat4	T	C	3: 38,945,846 (GRCm39)	Y1580H	probably damaging	Het
Fli1	T	A	9: 32,339,326 (GRCm39)	N253Y	probably benign	Het
Foxd3	G	T	4: 99,545,151 (GRCm39)	C97F	probably damaging	Het
Gem	C	A	4: 11,711,170 (GRCm39)	D120E	possibly damaging	Het
Katnip	A	G	7: 125,449,549 (GRCm39)	D897G	probably benign	Het
Kcnab3	A	G	11: 69,217,553 (GRCm39)	S16G	probably benign	Het
Keg1	T	G	19: 12,693,409 (GRCm39)	V154G	probably benign	Het
Lrrc45	G	A	11: 120,611,148 (GRCm39)	R602H	probably damaging	Het
Ltbp1	A	G	17: 75,598,292 (GRCm39)	D591G	possibly damaging	Het
Mmp10	T	A	9: 7,503,550 (GRCm39)	V140D	probably damaging	Het
Nat8f2	A	T	6: 85,845,194 (GRCm39)	M56K	probably benign	Het
Nckipsd	T	C	9: 108,692,153 (GRCm39)	F525L	probably damaging	Het
Or10ak7	A	G	4: 118,791,347 (GRCm39)	S233P	probably damaging	Het
Or10j7	T	A	1: 173,011,120 (GRCm39)	K294*	probably null	Het
Or6c6c	G	T	10: 129,541,155 (GRCm39)	S136I	possibly damaging	Het
P2ry12	T	A	3: 59,125,178 (GRCm39)	M166L	possibly damaging	Het
Palm3	T	C	8: 84,756,074 (GRCm39)	S529P	possibly damaging	Het
Pdilt	A	T	7: 119,094,220 (GRCm39)	Y344N	probably damaging	Het
Pip4k2b	A	T	11: 97,611,188 (GRCm39)	N309K	probably benign	Het
Pkd1l1	C	T	11: 8,912,708 (GRCm39)	V166I		Het
Plxdc2	C	T	2: 16,716,894 (GRCm39)	S377L	probably benign	Het
Rc3h2	A	T	2: 37,295,344 (GRCm39)	V224E	possibly damaging	Het
Stk32c	T	A	7: 138,685,220 (GRCm39)	D428V	possibly damaging	Het
Ttn	T	C	2: 76,644,951 (GRCm39)	D12968G	probably damaging	Het
Tulp2	G	T	7: 45,170,451 (GRCm39)	V457F	possibly damaging	Het
Vcan	A	T	13: 89,839,908 (GRCm39)	S1879T	probably damaging	Het
Vmn1r51	T	C	6: 90,106,437 (GRCm39)	Y118H	probably benign	Het
Zfat	A	C	15: 68,096,693 (GRCm39)	V40G	possibly damaging	Het

Other mutations in Ighv10-3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02130:Ighv10-3	APN	12	114,487,121 (GRCm39)	missense	probably damaging	1.00
IGL02433:Ighv10-3	APN	12	114,487,514 (GRCm39)	utr 5 prime	probably benign
IGL03154:Ighv10-3	APN	12	114,487,507 (GRCm39)	start codon destroyed	probably benign	0.08
R0392:Ighv10-3	UTSW	12	114,487,460 (GRCm39)	critical splice donor site	probably benign
R4342:Ighv10-3	UTSW	12	114,487,124 (GRCm39)	missense	possibly damaging	0.74
R5288:Ighv10-3	UTSW	12	114,487,125 (GRCm39)	missense	probably benign	0.00
R6330:Ighv10-3	UTSW	12	114,487,086 (GRCm39)	missense	possibly damaging	0.89
R9718:Ighv10-3	UTSW	12	114,487,254 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCAGATAGAGCATGCTTTGTG -3'
(R):5'- AACATTGAACATGGTGTTGGGG -3'

Sequencing Primer
(F):5'- GAGCATGCTTTGTGAATCATCTC -3'
(R):5'- AACATGGTGTTGGGGCTTAAG -3'

Posted On

2019-11-12