Incidental Mutation 'R4774:Igkv3-4'
ID 367751
Institutional Source Beutler Lab
Gene Symbol Igkv3-4
Ensembl Gene ENSMUSG00000096715
Gene Name immunoglobulin kappa variable 3-4
Synonyms
MMRRC Submission 042412-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.292) question?
Stock # R4774 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 70648773-70649361 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 70649269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 89 (S89R)
Ref Sequence ENSEMBL: ENSMUSP00000100202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103401]
AlphaFold A0A140T8Q4
Predicted Effect probably damaging
Transcript: ENSMUST00000103401
AA Change: S89R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100202
Gene: ENSMUSG00000096715
AA Change: S89R

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGv 38 114 3.19e-20 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 98% (97/99)
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,585,043 (GRCm39) I844V probably damaging Het
Acnat1 T A 4: 49,450,784 (GRCm39) Y109F probably benign Het
Alox12b T C 11: 69,054,033 (GRCm39) V205A probably benign Het
Arl6ip1 G A 7: 117,721,208 (GRCm39) R77C probably damaging Het
Atp8b1 A G 18: 64,666,730 (GRCm39) C1156R possibly damaging Het
Atp8b3 A C 10: 80,372,156 (GRCm39) N24K probably damaging Het
Bdh1 T C 16: 31,273,954 (GRCm39) V209A possibly damaging Het
Blm A T 7: 80,113,596 (GRCm39) C1234S probably damaging Het
Caml A G 13: 55,779,740 (GRCm39) D271G possibly damaging Het
Capn11 T C 17: 45,944,006 (GRCm39) D545G probably benign Het
Catspere1 T C 1: 177,765,304 (GRCm39) noncoding transcript Het
Cep128 T C 12: 91,200,969 (GRCm39) E347G probably damaging Het
Cngb3 A G 4: 19,415,713 (GRCm39) T408A possibly damaging Het
Coa8 A G 12: 111,679,823 (GRCm39) T33A possibly damaging Het
Cog1 G A 11: 113,548,253 (GRCm39) R18Q possibly damaging Het
Cps1 T C 1: 67,259,671 (GRCm39) F1338L probably damaging Het
Csmd1 T C 8: 16,059,369 (GRCm39) H2122R probably benign Het
Ctu2 T G 8: 123,207,851 (GRCm39) S26A probably benign Het
Dbf4 G A 5: 8,453,062 (GRCm39) probably benign Het
Ddx23 A T 15: 98,545,116 (GRCm39) D663E probably benign Het
Dpep2 T C 8: 106,717,388 (GRCm39) T123A possibly damaging Het
Eed A G 7: 89,613,976 (GRCm39) I274T probably damaging Het
Eif3b A G 5: 140,405,255 (GRCm39) D47G probably benign Het
Epas1 T C 17: 87,113,186 (GRCm39) V124A probably damaging Het
Fer1l6 T C 15: 58,449,798 (GRCm39) L668P probably damaging Het
Fnip2 C A 3: 79,373,028 (GRCm39) E1017* probably null Het
Gm43517 A T 12: 49,436,690 (GRCm39) probably benign Het
Got1 A G 19: 43,491,345 (GRCm39) probably null Het
H2-Eb2 T A 17: 34,553,375 (GRCm39) V187E probably damaging Het
H2-Q1 T C 17: 35,540,242 (GRCm39) probably benign Het
Hpgd T C 8: 56,751,454 (GRCm39) V94A probably damaging Het
Htra1 T A 7: 130,586,756 (GRCm39) N446K probably benign Het
Immt C T 6: 71,829,720 (GRCm39) T142I probably damaging Het
Itpkb C A 1: 180,245,759 (GRCm39) P759T probably damaging Het
Jmjd1c G A 10: 67,060,571 (GRCm39) V688I possibly damaging Het
Kbtbd13 G T 9: 65,298,025 (GRCm39) R304S probably benign Het
Lama5 A C 2: 179,827,734 (GRCm39) L2176R probably damaging Het
Lrp1b G C 2: 40,551,544 (GRCm39) L418V probably null Het
Lrrc4b C A 7: 44,111,796 (GRCm39) probably null Het
Lyst A G 13: 13,915,182 (GRCm39) N3292S probably damaging Het
Mep1b A T 18: 21,219,241 (GRCm39) I132F probably benign Het
Mettl2 A G 11: 105,017,436 (GRCm39) probably null Het
Nherf2 T C 17: 24,863,873 (GRCm39) M1V probably null Het
Niban1 A T 1: 151,591,445 (GRCm39) D529V probably damaging Het
Nmd3 T C 3: 69,652,569 (GRCm39) L385S probably benign Het
Nol4 T C 18: 23,045,683 (GRCm39) E243G probably damaging Het
Odad1 T A 7: 45,597,804 (GRCm39) S571R probably damaging Het
Or4l1 T A 14: 50,166,726 (GRCm39) I92F probably damaging Het
Or51k1 A G 7: 103,661,795 (GRCm39) I38T probably benign Het
Or5j3 A T 2: 86,129,042 (GRCm39) N294I possibly damaging Het
Or8b52 A G 9: 38,576,519 (GRCm39) I207T probably benign Het
Pcnp A G 16: 55,837,522 (GRCm39) probably benign Het
Pla2g6 A C 15: 79,171,818 (GRCm39) C680G probably damaging Het
Plekha7 G T 7: 115,744,178 (GRCm39) D661E probably damaging Het
Prim1 A T 10: 127,862,887 (GRCm39) probably benign Het
Psg29 T A 7: 16,944,460 (GRCm39) N323K probably benign Het
Ptrh2 G A 11: 86,580,833 (GRCm39) R150H probably damaging Het
Rasa1 A G 13: 85,398,621 (GRCm39) probably benign Het
Rasa3 T C 8: 13,627,501 (GRCm39) D667G probably benign Het
Rnase2a T C 14: 51,493,201 (GRCm39) N55D probably damaging Het
Rsf1 GCGGCGGCGGCGGCGGCGGC GCGGCGGCGGCGGCGGCGGCGGCGGCGGC 7: 97,229,123 (GRCm39) probably benign Het
Sbp T A 17: 24,164,218 (GRCm39) N133K probably damaging Het
Scml4 A G 10: 42,833,743 (GRCm39) probably benign Het
Sema5b T A 16: 35,483,552 (GRCm39) N1063K probably damaging Het
Serpind1 C T 16: 17,154,272 (GRCm39) T33M probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc15a2 A T 16: 36,602,057 (GRCm39) L80* probably null Het
Sorcs3 A G 19: 48,782,602 (GRCm39) D1039G probably benign Het
Spon1 A G 7: 113,639,102 (GRCm39) E776G probably damaging Het
Tdp1 C T 12: 99,868,623 (GRCm39) A259V possibly damaging Het
Tex46 C A 4: 136,337,991 (GRCm39) P61Q probably benign Het
Tnr T A 1: 159,724,636 (GRCm39) L1109Q probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpra1 G A 6: 88,887,661 (GRCm39) probably benign Het
Trim43c A T 9: 88,729,705 (GRCm39) H383L possibly damaging Het
Trip6 A G 5: 137,308,433 (GRCm39) C439R probably damaging Het
Tsen2 C T 6: 115,552,894 (GRCm39) S398L possibly damaging Het
Tubgcp2 T C 7: 139,576,074 (GRCm39) D863G probably damaging Het
Ube2d2a A G 18: 35,903,498 (GRCm39) probably benign Het
Umad1 T A 6: 8,427,181 (GRCm39) F145I probably damaging Het
Unc5c A T 3: 141,534,278 (GRCm39) E933V probably damaging Het
Vmn1r208 A G 13: 22,956,646 (GRCm39) F284L probably benign Het
Vmn2r53 T A 7: 12,334,692 (GRCm39) R323* probably null Het
Zan G A 5: 137,387,281 (GRCm39) T4924I unknown Het
Zfp597 G T 16: 3,683,851 (GRCm39) Q302K probably benign Het
Other mutations in Igkv3-4
AlleleSourceChrCoordTypePredicted EffectPPH Score
P0012:Igkv3-4 UTSW 6 70,649,231 (GRCm39) missense probably benign 0.03
R4171:Igkv3-4 UTSW 6 70,649,324 (GRCm39) missense probably damaging 1.00
R5590:Igkv3-4 UTSW 6 70,649,267 (GRCm39) missense probably damaging 1.00
R7127:Igkv3-4 UTSW 6 70,649,155 (GRCm39) nonsense probably null
R7898:Igkv3-4 UTSW 6 70,649,297 (GRCm39) missense probably damaging 1.00
R8494:Igkv3-4 UTSW 6 70,649,147 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTGACATTGTGCTGACCCAA -3'
(R):5'- GCTCTGTGCTGAGATGTCA -3'

Sequencing Primer
(F):5'- GTGCTGACCCAATCTCCAG -3'
(R):5'- ATGTCAGAGAGTAAGAGAGAACTG -3'
Posted On 2015-12-29