Mutagenetix > Incidental Mutation

Incidental Mutation 'R3109:Igkv11-125'

477840

Institutional Source

Beutler Lab

Gene Symbol

Igkv11-125

Ensembl Gene

ENSMUSG00000095737

Gene Name

immunoglobulin kappa variable 11-125

Synonyms

ENSMUSG00000050218

MMRRC Submission

040583-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R3109 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67890557-67891036 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67890855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 58 (F58L)

Ref Sequence

ENSEMBL: ENSMUSP00000142805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103311] [ENSMUST00000197406]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000103311
AA Change: F57L

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000100112
Gene: ENSMUSG00000095737
AA Change: F57L

Domain	Start	End	E-Value	Type
IGv	39	111	2.26e-20	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197406
AA Change: F58L

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000142805
Gene: ENSMUSG00000095737
AA Change: F58L

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IGv	40	112	9.2e-23	SMART

Coding Region Coverage

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

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	G	2: 152,284,376 (GRCm39)	E323G	probably damaging	Het
Adamts20	T	C	15: 94,243,785 (GRCm39)		probably benign	Het
Alkbh3	T	C	2: 93,835,108 (GRCm39)	E80G	probably damaging	Het
Amfr	T	C	8: 94,726,934 (GRCm39)	Y93C	probably damaging	Het
Arid2	T	C	15: 96,254,627 (GRCm39)	Y158H	probably damaging	Het
Camk1g	T	C	1: 193,037,301 (GRCm39)	Y133C	probably damaging	Het
Cnnm1	T	C	19: 43,430,000 (GRCm39)	C373R	probably damaging	Het
Cnot1	A	G	8: 96,462,377 (GRCm39)	V1691A	probably damaging	Het
Cubn	T	C	2: 13,367,158 (GRCm39)	S1571G	possibly damaging	Het
Dclk2	G	A	3: 86,827,342 (GRCm39)	P46S	probably damaging	Het
Dennd1b	G	A	1: 138,969,654 (GRCm39)		probably benign	Het
Dmrt2	C	A	19: 25,655,055 (GRCm39)	T218N	probably benign	Het
Drd4	T	A	7: 140,872,195 (GRCm39)	V82E	possibly damaging	Het
Fat1	G	A	8: 45,498,210 (GRCm39)		probably null	Het
Fyn	G	C	10: 39,427,451 (GRCm39)	D445H	probably damaging	Het
Igfn1	T	C	1: 135,925,586 (GRCm39)	D56G	probably benign	Het
Klhdc4	A	C	8: 122,548,073 (GRCm39)	H72Q	probably damaging	Het
Kmt2c	A	G	5: 25,480,733 (GRCm39)	Y1459H	probably damaging	Het
Lama2	C	T	10: 26,877,231 (GRCm39)	E2652K	probably benign	Het
Muc5b	C	T	7: 141,412,496 (GRCm39)	T1814M	unknown	Het
Ntrk3	C	T	7: 78,110,263 (GRCm39)	V324M	probably benign	Het
Or52s1b	T	A	7: 102,822,293 (GRCm39)	M184L	probably damaging	Het
Per2	A	T	1: 91,373,297 (GRCm39)	C164S	probably benign	Het
Ptprn2	A	G	12: 116,839,800 (GRCm39)	D441G	probably benign	Het
Rbl2	T	A	8: 91,828,863 (GRCm39)	I588N	probably benign	Het
Rslcan18	C	T	13: 67,246,671 (GRCm39)	E314K	possibly damaging	Het
Ubr3	A	T	2: 69,819,184 (GRCm39)	T1325S	probably damaging	Het
Unc45a	A	G	7: 79,981,294 (GRCm39)		probably benign	Het
Vmn1r175	A	G	7: 23,508,393 (GRCm39)	V78A	probably benign	Het

Other mutations in Igkv11-125

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02542:Igkv11-125	APN	6	67,890,991 (GRCm39)	missense	probably damaging	0.99
R0532:Igkv11-125	UTSW	6	67,890,603 (GRCm39)	nonsense	probably null
R3108:Igkv11-125	UTSW	6	67,890,855 (GRCm39)	missense	possibly damaging	0.56
R8065:Igkv11-125	UTSW	6	67,890,814 (GRCm39)	missense	probably benign	0.26
R8067:Igkv11-125	UTSW	6	67,890,814 (GRCm39)	missense	probably benign	0.26
R9640:Igkv11-125	UTSW	6	67,890,783 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

Posted On

2017-05-15