Incidental Mutation 'R5409:Igkv4-61'
ID 426446
Institutional Source Beutler Lab
Gene Symbol Igkv4-61
Ensembl Gene ENSMUSG00000076552
Gene Name immunoglobulin kappa chain variable 4-61
Synonyms Gm16895
MMRRC Submission 042978-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R5409 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 69393877-69394409 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69394111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 18 (K18E)
Ref Sequence ENSEMBL: ENSMUSP00000100154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103353] [ENSMUST00000199160]
AlphaFold A0A075B5M2
Predicted Effect possibly damaging
Transcript: ENSMUST00000103353
AA Change: K18E

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000100154
Gene: ENSMUSG00000076552
AA Change: K18E

DomainStartEndE-ValueType
IGv 18 89 2.74e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199160
AA Change: K40E

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000143767
Gene: ENSMUSG00000076552
AA Change: K40E

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IGv 40 111 1.1e-21 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,850,154 (GRCm39) L2002P probably damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Adgrl1 A G 8: 84,656,371 (GRCm39) T230A probably damaging Het
Anapc4 A G 5: 53,005,941 (GRCm39) E316G probably damaging Het
Asic1 GCACC GCACCACC 15: 99,596,684 (GRCm39) probably benign Het
Aurka T G 2: 172,209,036 (GRCm39) Q33P possibly damaging Het
Ccn5 G A 2: 163,667,158 (GRCm39) C53Y probably damaging Het
Cenpm T C 15: 82,118,564 (GRCm39) T153A probably benign Het
Clca4b T A 3: 144,622,452 (GRCm39) K538* probably null Het
Clip2 G A 5: 134,551,645 (GRCm39) T159M possibly damaging Het
Col5a1 C T 2: 27,850,457 (GRCm39) T518I unknown Het
Dis3 A T 14: 99,323,368 (GRCm39) M566K possibly damaging Het
Dnah1 C T 14: 30,985,212 (GRCm39) R3869H probably damaging Het
Gm4775 A T 14: 106,338,386 (GRCm39) noncoding transcript Het
Hipk2 C T 6: 38,706,977 (GRCm39) G637D probably damaging Het
Kcnk4 A G 19: 6,903,578 (GRCm39) S324P probably benign Het
Larp4 T C 15: 99,883,945 (GRCm39) C61R probably damaging Het
Nid2 T C 14: 19,856,030 (GRCm39) F986L probably damaging Het
Or5ac16 A G 16: 59,021,920 (GRCm39) Y290H probably damaging Het
Or5aq1b T C 2: 86,902,214 (GRCm39) E88G possibly damaging Het
Or5h22 C T 16: 58,894,559 (GRCm39) V295I possibly damaging Het
Pgbd5 T A 8: 125,098,619 (GRCm39) I359F probably damaging Het
Plekhh2 T C 17: 84,893,906 (GRCm39) probably null Het
Pomgnt2 A T 9: 121,811,303 (GRCm39) S493T possibly damaging Het
Rnf7l A T 10: 63,257,403 (GRCm39) M39K possibly damaging Het
Rp1l1 T C 14: 64,268,070 (GRCm39) S1219P probably benign Het
Rprd1b T A 2: 157,916,987 (GRCm39) F322L probably damaging Het
Sh3rf1 G A 8: 61,827,279 (GRCm39) V678M probably benign Het
Smpd5 C A 15: 76,179,914 (GRCm39) T321K probably damaging Het
Spag8 T A 4: 43,653,134 (GRCm39) probably benign Het
Tanc2 T C 11: 105,758,311 (GRCm39) C691R possibly damaging Het
Tnc A C 4: 63,884,773 (GRCm39) M1834R probably damaging Het
Tnc A T 4: 63,925,654 (GRCm39) Y961N probably damaging Het
Ttn T C 2: 76,700,893 (GRCm39) probably benign Het
Ufl1 A G 4: 25,280,706 (GRCm39) V47A probably damaging Het
Unc13c T A 9: 73,485,672 (GRCm39) D1676V possibly damaging Het
Vmn1r65 T C 7: 6,012,012 (GRCm39) N74S possibly damaging Het
Vmn2r30 A G 7: 7,315,547 (GRCm39) F762S probably damaging Het
Other mutations in Igkv4-61
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6415:Igkv4-61 UTSW 6 69,394,138 (GRCm39) missense possibly damaging 0.54
R6416:Igkv4-61 UTSW 6 69,394,138 (GRCm39) missense possibly damaging 0.54
R6418:Igkv4-61 UTSW 6 69,394,138 (GRCm39) missense possibly damaging 0.54
R6419:Igkv4-61 UTSW 6 69,394,138 (GRCm39) missense possibly damaging 0.54
R7002:Igkv4-61 UTSW 6 69,394,373 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGCATCTTCAGCCTCCATGC -3'
(R):5'- CCAACCAAAATTAATTTTCCTGGGG -3'

Sequencing Primer
(F):5'- CCTCCATGCTGCTGATTGTGAG -3'
(R):5'- CCTGGGGAATTTGAGTCTAAAATAC -3'
Posted On 2016-09-01