Incidental Mutation 'IGL02542:Igkv11-125'
ID297712
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv11-125
Ensembl Gene ENSMUSG00000095737
Gene Nameimmunoglobulin kappa variable 11-125
SynonymsENSMUSG00000050218
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02542
Quality Score
Status
Chromosome6
Chromosomal Location67913573-67914052 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 67914007 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Alanine at position 102 (E102A)
Ref Sequence ENSEMBL: ENSMUSP00000100112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103311] [ENSMUST00000197406]
Predicted Effect probably damaging
Transcript: ENSMUST00000103311
AA Change: E102A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000100112
Gene: ENSMUSG00000095737
AA Change: E102A

DomainStartEndE-ValueType
IGv 39 111 2.26e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000197406
AA Change: E103A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142805
Gene: ENSMUSG00000095737
AA Change: E103A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IGv 40 112 9.2e-23 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsa2 T A 11: 23,490,559 T231S possibly damaging Het
Arfgef1 A G 1: 10,172,842 L1091P probably benign Het
Arhgap32 A T 9: 32,255,648 K527M probably damaging Het
Caap1 T C 4: 94,550,505 N149S probably benign Het
Cc2d2a A G 5: 43,688,910 probably benign Het
Cdk13 A T 13: 17,728,178 I929K probably damaging Het
Fan1 A G 7: 64,364,660 Y608H probably damaging Het
Foxj3 A G 4: 119,620,343 N416S unknown Het
Gm20547 T C 17: 34,857,260 S1151G possibly damaging Het
Ighv1-80 A T 12: 115,912,579 I39N probably damaging Het
Mdc1 C A 17: 35,853,156 P1199T probably damaging Het
Negr1 T C 3: 156,562,225 S11P probably damaging Het
Oxsr1 T C 9: 119,242,735 R477G possibly damaging Het
Pappa T A 4: 65,176,281 F514L probably damaging Het
Pde6c G T 19: 38,178,130 D707Y probably damaging Het
Phtf1 T C 3: 103,993,906 probably benign Het
Piezo2 T A 18: 63,032,924 I2079F probably damaging Het
Ptprm T C 17: 66,920,150 D668G probably benign Het
Ptprq T C 10: 107,662,555 Y887C probably damaging Het
Rax T C 18: 65,938,630 E62G possibly damaging Het
Rnf25 T C 1: 74,594,101 E364G probably benign Het
Sipa1l3 A T 7: 29,388,065 D578E probably damaging Het
Slc14a2 T G 18: 78,209,087 D3A probably benign Het
Slc28a3 A G 13: 58,573,470 Y294H probably damaging Het
Slit1 T C 19: 41,627,248 T811A probably damaging Het
Sorcs2 T C 5: 36,025,942 T996A probably damaging Het
Tmem132b A C 5: 125,622,494 Q73P probably damaging Het
Tnrc6b T A 15: 80,902,352 I1275N possibly damaging Het
Vasp A T 7: 19,264,780 D17E probably damaging Het
Wdr19 A G 5: 65,231,071 T700A probably benign Het
Ythdc2 T G 18: 44,840,241 L315W probably damaging Het
Zfp385c A G 11: 100,629,916 V306A probably damaging Het
Other mutations in Igkv11-125
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0532:Igkv11-125 UTSW 6 67913619 nonsense probably null
R3108:Igkv11-125 UTSW 6 67913871 missense possibly damaging 0.56
R3109:Igkv11-125 UTSW 6 67913871 missense possibly damaging 0.56
Posted On2015-04-16