Mutagenetix > Incidental Mutation

Incidental Mutation 'R2433:Igkv10-94'

476375

Institutional Source

Beutler Lab

Gene Symbol

Igkv10-94

Ensembl Gene

ENSMUSG00000096490

Gene Name

immunoglobulin kappa variable 10-94

Synonyms

MMRRC Submission

040394-MU

Accession Numbers

Essential gene?

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

Stock #

R2433 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68681492-68681962 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68681559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 94 (T94A)

Ref Sequence

ENSEMBL: ENSMUSP00000100131 (fasta)

Gene Model

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

AlphaFold

A0A075B5L1

Predicted Effect

probably benign
Transcript: ENSMUST00000103330
AA Change: T94A

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100131
Gene: ENSMUSG00000096490
AA Change: T94A

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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v0a4	A	G	6: 38,058,964 (GRCm39)		probably null	Het
Bpifb4	A	G	2: 153,801,597 (GRCm39)	K573E	probably damaging	Het
Capn10	T	A	1: 92,870,247 (GRCm39)	D244E	probably benign	Het
Dhrs11	C	A	11: 84,719,745 (GRCm39)		probably benign	Het
Eipr1	G	A	12: 28,913,042 (GRCm39)	G248R	probably damaging	Het
Fam120a	A	C	13: 49,087,444 (GRCm39)	D305E	probably damaging	Het
Hmgcr	A	G	13: 96,802,393 (GRCm39)	L97P	probably damaging	Het
Htt	A	T	5: 35,064,885 (GRCm39)	S3033C	possibly damaging	Het
Krtap16-3	T	C	16: 88,759,533 (GRCm39)	Y60C	unknown	Het
Lrp4	G	A	2: 91,336,360 (GRCm39)	V1724I	probably benign	Het
Myo5b	A	G	18: 74,892,158 (GRCm39)	Y1634C	probably damaging	Het
Nrxn3	A	G	12: 89,943,160 (GRCm39)	Y96C	probably damaging	Het
Obscn	A	T	11: 58,929,912 (GRCm39)		probably null	Het
Pde3b	T	C	7: 114,126,072 (GRCm39)	C769R	probably benign	Het
Phlpp2	T	G	8: 110,666,634 (GRCm39)	C1054W	probably damaging	Het
Pttg1	A	T	11: 43,311,178 (GRCm39)	V193D	probably damaging	Het
Robo1	T	C	16: 72,767,127 (GRCm39)	L433S	probably benign	Het
Sema4f	A	T	6: 82,916,490 (GRCm39)	C13S	possibly damaging	Het
Slc12a3	T	C	8: 95,072,944 (GRCm39)	L689P	probably benign	Het
Slc7a6os	T	C	8: 106,931,003 (GRCm39)	N211S	possibly damaging	Het
Smurf2	T	A	11: 106,759,490 (GRCm39)	I69F	probably benign	Het
St8sia3	A	T	18: 64,402,787 (GRCm39)	H198L	probably benign	Het
Tacc3	A	G	5: 33,829,083 (GRCm39)	K594R	possibly damaging	Het
Trip12	A	T	1: 84,721,544 (GRCm39)	I1396K	possibly damaging	Het
Ugcg	A	G	4: 59,207,876 (GRCm39)	T72A	possibly damaging	Het
Zfp944	A	T	17: 22,558,193 (GRCm39)	Y351*	probably null	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
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
R6540:Igkv10-94	UTSW	6	68,681,507 (GRCm39)	missense	probably benign	0.00
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

Posted On

2017-05-11