Mutagenetix > Incidental Mutation

Incidental Mutation 'R3914:Igkv2-137'

474544

Institutional Source

Beutler Lab

Gene Symbol

Igkv2-137

Ensembl Gene

ENSMUSG00000076501

Gene Name

immunoglobulin kappa chain variable 2-137

Synonyms

Gm16955

MMRRC Submission

040912-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R3914 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67532620-67533200 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67532968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 44 (R44W)

Ref Sequence

ENSEMBL: ENSMUSP00000100103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103302]

AlphaFold

A0A0B4J1H6

Predicted Effect

probably damaging
Transcript: ENSMUST00000103302
AA Change: R44W

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

SMART Domains

Protein: ENSMUSP00000100103
Gene: ENSMUSG00000076501
AA Change: R44W

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGv	38	115	2.35e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199480

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8b2	A	T	3: 89,861,755 (GRCm39)	I266N	probably damaging	Het
AU041133	G	A	10: 81,987,649 (GRCm39)	R434Q	probably damaging	Het
Ccdc174	G	T	6: 91,876,338 (GRCm39)	A392S	possibly damaging	Het
Cdh18	T	C	15: 23,410,771 (GRCm39)	Y419H	probably damaging	Het
Col20a1	A	G	2: 180,640,285 (GRCm39)	K509R	probably benign	Het
Csmd2	A	T	4: 128,215,117 (GRCm39)	D513V	probably benign	Het
Disp1	A	G	1: 182,870,666 (GRCm39)	F585L	probably benign	Het
Entpd7	G	A	19: 43,679,597 (GRCm39)	R50Q	probably benign	Het
Exoc1	G	A	5: 76,691,408 (GRCm39)	S244N	possibly damaging	Het
Fam234b	A	G	6: 135,202,681 (GRCm39)	D345G	probably damaging	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gprc6a	T	A	10: 51,504,371 (GRCm39)	M158L	probably benign	Het
Hdc	T	C	2: 126,444,926 (GRCm39)	T255A	probably damaging	Het
Hps5	T	C	7: 46,432,950 (GRCm39)	T257A	probably damaging	Het
Ice1	A	G	13: 70,754,203 (GRCm39)	C628R	probably benign	Het
Islr2	A	T	9: 58,105,666 (GRCm39)	Y531*	probably null	Het
Mast4	G	A	13: 102,875,829 (GRCm39)	R1112*	probably null	Het
Mrc2	T	C	11: 105,238,058 (GRCm39)		probably benign	Het
Myo19	G	A	11: 84,785,429 (GRCm39)	R224H	probably damaging	Het
Nup58	A	G	14: 60,469,596 (GRCm39)	M375T	possibly damaging	Het
Phaf1	A	G	8: 105,966,615 (GRCm39)	N121D	probably benign	Het
Phldb2	T	C	16: 45,577,526 (GRCm39)	E1133G	probably damaging	Het
Rabl6	T	C	2: 25,478,718 (GRCm39)	T238A	possibly damaging	Het
Ranbp17	G	A	11: 33,429,189 (GRCm39)	A352V	probably benign	Het
Riok3	A	G	18: 12,281,879 (GRCm39)	I283V	probably benign	Het
Rrm1	A	G	7: 102,106,381 (GRCm39)	Y300C	probably damaging	Het
Shoc1	T	A	4: 59,094,201 (GRCm39)	R174S	possibly damaging	Het
Sipa1l3	T	C	7: 29,099,510 (GRCm39)	D253G	probably benign	Het
Slc22a8	T	A	19: 8,585,550 (GRCm39)	I305N	probably damaging	Het
Slc26a3	A	T	12: 31,503,905 (GRCm39)	E303D	probably benign	Het
Slc32a1	C	T	2: 158,453,152 (GRCm39)		probably benign	Het
Tars3	C	A	7: 65,333,556 (GRCm39)	Q585K	probably benign	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Ubqlnl	A	G	7: 103,798,813 (GRCm39)	V228A	probably benign	Het
Wnt7b	T	A	15: 85,422,059 (GRCm39)	D201V	possibly damaging	Het
Xpot	A	T	10: 121,440,443 (GRCm39)	I596N	possibly damaging	Het

Other mutations in Igkv2-137

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03268:Igkv2-137	APN	6	67,533,092 (GRCm39)	missense	probably benign	0.18
R4692:Igkv2-137	UTSW	6	67,532,971 (GRCm39)	missense	possibly damaging	0.87
R5513:Igkv2-137	UTSW	6	67,532,998 (GRCm39)	missense	possibly damaging	0.88
R8320:Igkv2-137	UTSW	6	67,533,154 (GRCm39)	frame shift	probably null
R8321:Igkv2-137	UTSW	6	67,533,154 (GRCm39)	frame shift	probably null
R8984:Igkv2-137	UTSW	6	67,532,659 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-04-14