Mutagenetix > Incidental Mutation

Incidental Mutation 'R6540:Igkv10-94'

520684

Institutional Source

Beutler Lab

Gene Symbol

Igkv10-94

Ensembl Gene

ENSMUSG00000096490

Gene Name

immunoglobulin kappa variable 10-94

Synonyms

MMRRC Submission

044666-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.264) question?

Stock #

R6540 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

68681492-68681962 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68681507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 111 (Y111F)

Ref Sequence

ENSEMBL: ENSMUSP00000100131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103330]

AlphaFold

A0A075B5L1

Predicted Effect

probably benign
Transcript: ENSMUST00000103330
AA Change: Y111F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000100131
Gene: ENSMUSG00000096490
AA Change: Y111F

Domain	Start	End	E-Value	Type
low complexity region	8	13	N/A	INTRINSIC
IGv	38	110	2.11e-20	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	T	C	4: 128,660,779 (GRCm39)	Y143H	possibly damaging	Het
Aco1	G	A	4: 40,186,367 (GRCm39)	R593Q	probably benign	Het
Adamts2	T	C	11: 50,679,567 (GRCm39)	V849A	possibly damaging	Het
Ash1l	A	T	3: 88,892,368 (GRCm39)	T1416S	probably damaging	Het
Cdc5l	A	G	17: 45,737,570 (GRCm39)	W63R	probably damaging	Het
Cep95	T	A	11: 106,692,328 (GRCm39)	D169E	probably damaging	Het
Col14a1	A	C	15: 55,235,977 (GRCm39)	N297T	unknown	Het
Cp	T	C	3: 20,018,693 (GRCm39)		probably null	Het
Fbxl19	G	T	7: 127,347,525 (GRCm39)		probably benign	Het
Flnc	T	C	6: 29,446,376 (GRCm39)	V931A	possibly damaging	Het
Foxj2	A	G	6: 122,810,202 (GRCm39)	H187R	probably benign	Het
Hectd4	G	A	5: 121,441,634 (GRCm39)	V1199I	probably benign	Het
Ighv7-4	A	G	12: 114,186,470 (GRCm39)	Y101H	possibly damaging	Het
Lin28a	C	T	4: 133,745,372 (GRCm39)	V74M	possibly damaging	Het
Lrrc49	T	C	9: 60,592,335 (GRCm39)	N53S	possibly damaging	Het
Mroh9	T	G	1: 162,866,541 (GRCm39)	T701P	possibly damaging	Het
Ndst4	A	T	3: 125,515,801 (GRCm39)	K309*	probably null	Het
Nlrp9a	T	C	7: 26,256,817 (GRCm39)	V145A	possibly damaging	Het
Or2l5	T	C	16: 19,333,571 (GRCm39)	I272V	probably benign	Het
Ovgp1	A	T	3: 105,893,897 (GRCm39)	K557*	probably null	Het
Pde4b	T	C	4: 102,459,073 (GRCm39)	L546P	probably damaging	Het
Pkd1	G	A	17: 24,794,951 (GRCm39)	V2213M	probably damaging	Het
Plekhh1	A	G	12: 79,111,263 (GRCm39)	I542V	probably benign	Het
Ppan	A	G	9: 20,802,506 (GRCm39)		probably null	Het
Prdm15	A	T	16: 97,637,005 (GRCm39)	V104E	probably benign	Het
Semp2l2a	A	C	8: 13,887,573 (GRCm39)	S173A	probably benign	Het
Sik3	A	G	9: 46,123,351 (GRCm39)	H1050R	probably benign	Het
Slc35d3	A	G	10: 19,725,086 (GRCm39)	F257L	possibly damaging	Het
Tfip11	A	G	5: 112,482,263 (GRCm39)		probably null	Het
Tmem132d	A	G	5: 128,345,596 (GRCm39)	S309P	possibly damaging	Het
Tmem87a	T	C	2: 120,234,400 (GRCm39)	I48V	probably benign	Het
V1rd19	T	A	7: 23,703,056 (GRCm39)	L174*	probably null	Het
Zfp729a	A	G	13: 67,767,767 (GRCm39)	C821R	possibly damaging	Het
Zfp970	C	A	2: 177,167,388 (GRCm39)	H321N	probably damaging	Het
Zzef1	T	C	11: 72,804,055 (GRCm39)	L2599P	probably damaging	Het

Other mutations in Igkv10-94

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02004:Igkv10-94	APN	6	68,681,928 (GRCm39)	nonsense	probably null
R1299:Igkv10-94	UTSW	6	68,681,482 (GRCm39)	unclassified	probably benign
R2433:Igkv10-94	UTSW	6	68,681,559 (GRCm39)	missense	probably benign	0.29
R5122:Igkv10-94	UTSW	6	68,681,655 (GRCm39)	nonsense	probably null
R5292:Igkv10-94	UTSW	6	68,681,582 (GRCm39)	missense	probably damaging	0.99
R7135:Igkv10-94	UTSW	6	68,681,727 (GRCm39)	missense	possibly damaging	0.70
R7872:Igkv10-94	UTSW	6	68,681,913 (GRCm39)	critical splice donor site	probably benign
R7965:Igkv10-94	UTSW	6	68,681,595 (GRCm39)	missense	probably damaging	1.00
R8558:Igkv10-94	UTSW	6	68,681,636 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTTAGCCCCTCCTATGAAAAC -3'
(R):5'- TGGGAGACAGAGTCACCATCAG -3'

Sequencing Primer
(F):5'- GCCCCTCCTATGAAAACAAATAACTC -3'
(R):5'- AGTCACCATCAGTTGCAGTG -3'

Posted On

2018-06-06