Mutagenetix > Incidental Mutation

Incidental Mutation 'R3108:Igkv11-125'

477835

Institutional Source

Beutler Lab

Gene Symbol

Igkv11-125

Ensembl Gene

ENSMUSG00000095737

Gene Name

immunoglobulin kappa variable 11-125

Synonyms

ENSMUSG00000050218

MMRRC Submission

040582-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R3108 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67913573-67914052 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67913871 bp (GRCm38)

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: 97.3%
20x: 95.3%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	C	T	7: 79,323,585	S104L	probably benign	Het
Adcy1	A	G	11: 7,169,453	Y1032C	probably damaging	Het
Ap4e1	T	C	2: 127,056,306		probably null	Het
Ccnb1	C	T	13: 100,781,624		probably null	Het
Cfap54	T	C	10: 92,994,683	N1197S	probably benign	Het
Cnot1	A	G	8: 95,735,749	V1691A	probably damaging	Het
Dclk2	G	A	3: 86,920,035	P46S	probably damaging	Het
Dennd4a	A	G	9: 64,912,387	K1760R	probably benign	Het
Drd4	T	A	7: 141,292,282	V82E	possibly damaging	Het
Dtx2	G	A	5: 136,021,816	V323M	probably benign	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fat1	G	A	8: 45,045,173		probably null	Het
Mrgprb1	A	G	7: 48,447,328	S279P	possibly damaging	Het
Muc5b	C	T	7: 141,858,759	T1814M	unknown	Het
Nkpd1	G	A	7: 19,522,978	M227I	probably damaging	Het
Ntrk3	C	T	7: 78,460,515	V324M	probably benign	Het
Nup155	C	A	15: 8,117,306	T210K	probably null	Het
Olfr466	T	C	13: 65,153,061	V279A	possibly damaging	Het
Olfr591	T	A	7: 103,173,086	M184L	probably damaging	Het
Pak4	A	T	7: 28,564,344	Y322*	probably null	Het
Raph1	G	A	1: 60,493,386	A696V	probably benign	Het
Satb1	A	T	17: 51,782,782	Y346N	possibly damaging	Het
Serpina1a	A	T	12: 103,853,841	I382N	probably damaging	Het
Slc34a3	G	T	2: 25,229,245	Q538K	probably benign	Het
Slf1	C	T	13: 77,126,721		probably benign	Het
Ston1	G	T	17: 88,636,155	E330*	probably null	Het
Trhde	C	T	10: 114,592,066	E442K	probably damaging	Het
Unc45a	A	G	7: 80,331,546		probably benign	Het
Zfp169	A	G	13: 48,489,996	S552P	possibly damaging	Het
Zfp229	T	A	17: 21,746,816	C676S	probably damaging	Het

Other mutations in Igkv11-125

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02542:Igkv11-125	APN	6	67914007	missense	probably damaging	0.99
R0532:Igkv11-125	UTSW	6	67913619	nonsense	probably null
R3109:Igkv11-125	UTSW	6	67913871	missense	possibly damaging	0.56
R8065:Igkv11-125	UTSW	6	67913830	missense	probably benign	0.26
R8067:Igkv11-125	UTSW	6	67913830	missense	probably benign	0.26
R9640:Igkv11-125	UTSW	6	67913799	missense	possibly damaging	0.86

Predicted Primers

Posted On

2017-05-15