Incidental Mutation 'R4116:Igkv3-7'
ID 314630
Institutional Source Beutler Lab
Gene Symbol Igkv3-7
Ensembl Gene ENSMUSG00000076598
Gene Name immunoglobulin kappa variable 3-7
Synonyms
MMRRC Submission 040859-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.346) question?
Stock # R4116 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 70584421-70585020 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 70584923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 88 (G88C)
Ref Sequence ENSEMBL: ENSMUSP00000142610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103399] [ENSMUST00000197560]
AlphaFold A0A075B5N9
Predicted Effect probably damaging
Transcript: ENSMUST00000103399
AA Change: G68C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100200
Gene: ENSMUSG00000076598
AA Change: G68C

DomainStartEndE-ValueType
IGv 18 94 9.17e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000197560
AA Change: G88C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142610
Gene: ENSMUSG00000076598
AA Change: G88C

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGv 38 114 3.8e-23 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,634,817 (GRCm39) F395L possibly damaging Het
Amigo1 C T 3: 108,095,761 (GRCm39) T420I probably damaging Het
Ankrd34c A G 9: 89,611,927 (GRCm39) L138P probably damaging Het
Cald1 C T 6: 34,722,654 (GRCm39) R107C probably damaging Het
Cast C T 13: 74,872,956 (GRCm39) E444K probably damaging Het
Ccdc121rt2 A G 5: 112,598,377 (GRCm39) E308G probably damaging Het
Crybg1 T G 10: 43,875,158 (GRCm39) N650T possibly damaging Het
Cyp19a1 T A 9: 54,076,025 (GRCm39) R276S possibly damaging Het
Cyp2c66 A G 19: 39,165,003 (GRCm39) D328G possibly damaging Het
Hectd1 A T 12: 51,815,506 (GRCm39) L1527* probably null Het
Hoxd13 C A 2: 74,498,832 (GRCm39) A60E possibly damaging Het
Kcnk12 GGCATCGC GGCATCGCATCGC 17: 88,053,584 (GRCm39) probably null Het
Klhl30 C A 1: 91,281,830 (GRCm39) Q144K probably benign Het
Kprp A T 3: 92,731,275 (GRCm39) S592T probably damaging Het
Man2c1 T C 9: 57,047,589 (GRCm39) probably null Het
Mbtps1 A T 8: 120,268,391 (GRCm39) M260K probably benign Het
Morc3 G A 16: 93,670,227 (GRCm39) D801N probably benign Het
Mpped1 A G 15: 83,680,910 (GRCm39) probably benign Het
Mtcl1 T C 17: 66,673,476 (GRCm39) T767A probably benign Het
Nek5 G A 8: 22,601,178 (GRCm39) T181M probably damaging Het
Nomo1 T C 7: 45,683,320 (GRCm39) I22T probably benign Het
Or7g27 T G 9: 19,249,940 (GRCm39) F61L probably benign Het
Plin4 A G 17: 56,409,113 (GRCm39) V1369A probably benign Het
Polr3c A T 3: 96,622,560 (GRCm39) F365Y probably damaging Het
Sec22a A G 16: 35,139,202 (GRCm39) F232S probably damaging Het
Sema4f G A 6: 82,894,887 (GRCm39) T436M probably benign Het
Sf3a2 A G 10: 80,637,175 (GRCm39) T37A probably damaging Het
Slc1a6 A G 10: 78,623,723 (GRCm39) M41V probably benign Het
Sptbn4 C T 7: 27,090,995 (GRCm39) E1399K probably damaging Het
Sspo T C 6: 48,433,928 (GRCm39) L911P probably damaging Het
Sult2a2 A T 7: 13,468,708 (GRCm39) Q58L probably benign Het
Syne2 A T 12: 75,977,853 (GRCm39) I1433F probably damaging Het
Synm C T 7: 67,384,405 (GRCm39) V644I possibly damaging Het
Tbc1d5 A G 17: 51,227,615 (GRCm39) L210P probably damaging Het
Trak1 T C 9: 121,277,909 (GRCm39) Y229H probably damaging Het
Unc5b G T 10: 60,610,479 (GRCm39) T446K probably damaging Het
Wdr95 C A 5: 149,521,040 (GRCm39) D604E probably benign Het
Zfp773 AGCTGCTGCTGCTGCTGCTGCTGCTGC AGCTGCTGCTGCTGCTGCTGCTGC 7: 7,136,092 (GRCm39) probably benign Het
Other mutations in Igkv3-7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00594:Igkv3-7 APN 6 70,584,807 (GRCm39) missense possibly damaging 0.91
R5582:Igkv3-7 UTSW 6 70,584,990 (GRCm39) missense probably damaging 1.00
R6705:Igkv3-7 UTSW 6 70,585,004 (GRCm39) missense probably benign 0.04
R8383:Igkv3-7 UTSW 6 70,584,734 (GRCm39) missense probably damaging 1.00
R8837:Igkv3-7 UTSW 6 70,584,942 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- TGGTGACATTGTGCTGACAC -3'
(R):5'- TGGGACACACATACATATCTGTTC -3'

Sequencing Primer
(F):5'- GTGCTGACACAGTCTCCTG -3'
(R):5'- GCCTATAGCTCTGTTTTGAGATG -3'
Posted On 2015-05-14