Incidental Mutation 'R3622:Igkv1-133'
ID 348320
Institutional Source Beutler Lab
Gene Symbol Igkv1-133
Ensembl Gene ENSMUSG00000094491
Gene Name immunoglobulin kappa variable 1-133
Synonyms
MMRRC Submission 040677-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.174) question?
Stock # R3622 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 67701898-67702645 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 67701944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 16 (Q16L)
Ref Sequence ENSEMBL: ENSMUSP00000100105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103304]
AlphaFold A0A0B4J1H8
Predicted Effect probably benign
Transcript: ENSMUST00000103304
AA Change: Q16L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100105
Gene: ENSMUSG00000094491
AA Change: Q16L

DomainStartEndE-ValueType
IGv 38 115 9.25e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168310
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T A 7: 119,950,036 (GRCm39) Y503* probably null Het
Akap9 C A 5: 4,026,235 (GRCm39) Q1297K possibly damaging Het
Dffb T C 4: 154,049,976 (GRCm39) T296A probably damaging Het
Dpf1 G A 7: 29,015,631 (GRCm39) probably null Het
Elp1 A T 4: 56,759,925 (GRCm39) probably null Het
Grid2ip T C 5: 143,371,774 (GRCm39) S666P probably damaging Het
Gucy2e T A 11: 69,115,877 (GRCm39) E835V probably damaging Het
Hdac5 G A 11: 102,086,644 (GRCm39) P120S probably benign Het
Htr1d T C 4: 136,170,815 (GRCm39) I348T probably damaging Het
Hyal4 A T 6: 24,765,737 (GRCm39) S364C probably damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Met A T 6: 17,549,085 (GRCm39) D979V probably damaging Het
Mga A G 2: 119,772,245 (GRCm39) T1702A probably damaging Het
Midn A G 10: 79,986,144 (GRCm39) D78G probably benign Het
Muc5b T C 7: 141,405,595 (GRCm39) probably benign Het
Oma1 T C 4: 103,223,288 (GRCm39) I491T probably benign Het
Or1e30 A G 11: 73,678,567 (GRCm39) T268A probably benign Het
Or5ak24 C T 2: 85,260,837 (GRCm39) C112Y probably benign Het
Or5b107 T A 19: 13,143,020 (GRCm39) M214K probably benign Het
Or8b48 A G 9: 38,492,792 (GRCm39) Y73C probably damaging Het
Pbld2 T C 10: 62,897,470 (GRCm39) L57P probably damaging Het
Phka2 T A X: 159,327,291 (GRCm39) Y334* probably null Het
Plin4 G T 17: 56,411,112 (GRCm39) T973K possibly damaging Het
R3hdm4 C T 10: 79,748,515 (GRCm39) R143H possibly damaging Het
Rps18 G C 17: 34,171,247 (GRCm39) probably null Het
Samd9l A T 6: 3,374,032 (GRCm39) C1076* probably null Het
Scml4 T C 10: 42,806,607 (GRCm39) probably benign Het
Slc16a10 A G 10: 40,017,890 (GRCm39) V48A probably benign Het
Slc6a5 T C 7: 49,567,371 (GRCm39) V275A probably benign Het
Smad9 C T 3: 54,696,705 (GRCm39) R257W probably damaging Het
Snrpb C A 2: 130,017,299 (GRCm39) R73L probably null Het
Srsf9 C T 5: 115,468,571 (GRCm39) A69V probably damaging Het
Stfa2 A G 16: 36,224,433 (GRCm39) Y90H probably damaging Het
Tgm6 T A 2: 129,993,681 (GRCm39) V640E possibly damaging Het
Tnrc6c C T 11: 117,640,451 (GRCm39) R1414C probably damaging Het
Tyk2 A T 9: 21,038,606 (GRCm39) C8S probably damaging Het
Upp2 G A 2: 58,680,128 (GRCm39) R300Q possibly damaging Het
Utp20 A G 10: 88,593,855 (GRCm39) probably benign Het
Veph1 C T 3: 66,122,858 (GRCm39) V224I probably benign Het
Vmn1r30 A T 6: 58,412,437 (GRCm39) F132I probably benign Het
Vmn2r116 A G 17: 23,605,025 (GRCm39) S113G probably benign Het
Vps53 A C 11: 76,008,609 (GRCm39) V237G probably benign Het
Other mutations in Igkv1-133
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02247:Igkv1-133 APN 6 67,702,590 (GRCm39) missense probably damaging 0.98
R2483:Igkv1-133 UTSW 6 67,701,944 (GRCm39) missense probably benign
R3623:Igkv1-133 UTSW 6 67,701,944 (GRCm39) missense probably benign
R3624:Igkv1-133 UTSW 6 67,701,944 (GRCm39) missense probably benign
R4074:Igkv1-133 UTSW 6 67,702,505 (GRCm39) nonsense probably null
R5290:Igkv1-133 UTSW 6 67,702,563 (GRCm39) missense possibly damaging 0.83
R5471:Igkv1-133 UTSW 6 67,702,531 (GRCm39) missense probably benign 0.26
R7259:Igkv1-133 UTSW 6 67,702,522 (GRCm39) missense probably benign 0.00
R7363:Igkv1-133 UTSW 6 67,702,395 (GRCm39) missense probably benign 0.06
R7911:Igkv1-133 UTSW 6 67,701,924 (GRCm39) missense probably benign
R7965:Igkv1-133 UTSW 6 67,702,578 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGGTATACAGACCAGAACATTTGC -3'
(R):5'- TCCTTTCAAGTAAGATCCTAGCAG -3'

Sequencing Primer
(F):5'- GACCAGAACATTTGCATATTGTTCCC -3'
(R):5'- CCATCCAATCTATGTCAGAATACTG -3'
Posted On 2015-10-06