Incidental Mutation 'R7385:Igkv4-80'
ID 573021
Institutional Source Beutler Lab
Gene Symbol Igkv4-80
Ensembl Gene ENSMUSG00000076540
Gene Name immunoglobulin kappa variable 4-80
Synonyms Gm16729
MMRRC Submission 045467-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R7385 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 68993542-68994064 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 68993699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 64 (S64F)
Ref Sequence ENSEMBL: ENSMUSP00000100142 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103341]
AlphaFold A0A075B5L7
Predicted Effect probably damaging
Transcript: ENSMUST00000103341
AA Change: S64F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100142
Gene: ENSMUSG00000076540
AA Change: S64F

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IGv 40 111 1.7e-19 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 T C 1: 179,580,946 (GRCm39) E1752G possibly damaging Het
Aqp3 T C 4: 41,095,178 (GRCm39) T68A probably damaging Het
Arhgap40 A G 2: 158,385,147 (GRCm39) K463R probably damaging Het
Asb10 A T 5: 24,738,736 (GRCm39) C440* probably null Het
Bach1 A G 16: 87,526,385 (GRCm39) T616A probably damaging Het
Braf T A 6: 39,642,042 (GRCm39) probably null Het
Cacna1s A T 1: 136,020,371 (GRCm39) N803Y probably damaging Het
Cald1 A G 6: 34,663,000 (GRCm39) E21G probably damaging Het
Caskin1 G T 17: 24,722,898 (GRCm39) G589C probably damaging Het
Cdc37l1 T C 19: 28,968,071 (GRCm39) probably null Het
Cntnap5b G A 1: 100,306,815 (GRCm39) G844D probably damaging Het
Col5a1 T C 2: 27,914,762 (GRCm39) L1615P unknown Het
Cpt1a C A 19: 3,430,155 (GRCm39) P672T probably damaging Het
Defb22 A G 2: 152,328,117 (GRCm39) Y23H probably damaging Het
Depdc1b G C 13: 108,500,166 (GRCm39) K226N probably damaging Het
Derl2 A G 11: 70,909,764 (GRCm39) probably benign Het
Dnaja2 T C 8: 86,265,982 (GRCm39) T368A probably benign Het
Dsg3 C A 18: 20,673,254 (GRCm39) T975K possibly damaging Het
Eif4enif1 T A 11: 3,170,269 (GRCm39) D107E probably damaging Het
Fut11 A G 14: 20,746,325 (GRCm39) D389G probably damaging Het
Gopc C T 10: 52,225,328 (GRCm39) G299E probably damaging Het
Gprin1 T C 13: 54,886,423 (GRCm39) D617G probably benign Het
Grin2d A G 7: 45,506,960 (GRCm39) V505A probably damaging Het
Heatr6 T C 11: 83,650,161 (GRCm39) Y206H probably damaging Het
Hhex C A 19: 37,425,713 (GRCm39) N147K probably damaging Het
Jakmip3 A G 7: 138,625,068 (GRCm39) K360R possibly damaging Het
Kat5 AG A 19: 5,658,297 (GRCm39) probably null Het
Kat5 T A 19: 5,658,302 (GRCm39) N191I probably benign Het
Kifc5b A G 17: 27,144,597 (GRCm39) D572G probably damaging Het
Lrp5 C A 19: 3,662,197 (GRCm39) probably null Het
Lrtm1 A G 14: 28,749,673 (GRCm39) M345V probably benign Het
Mbd5 T C 2: 49,162,461 (GRCm39) V981A probably benign Het
Mier3 G A 13: 111,841,783 (GRCm39) G115S possibly damaging Het
Mrgprd A G 7: 144,875,261 (GRCm39) N44S probably damaging Het
Mrps10 C A 17: 47,689,146 (GRCm39) P181Q probably damaging Het
Myot T A 18: 44,470,075 (GRCm39) C17* probably null Het
Myt1 A G 2: 181,409,498 (GRCm39) probably null Het
Ncoa6 C A 2: 155,249,721 (GRCm39) L1194F probably damaging Het
Or4d11 T C 19: 12,013,363 (GRCm39) T248A probably benign Het
Or4d6 T C 19: 12,086,061 (GRCm39) N57S probably damaging Het
Or4e5 T C 14: 52,727,638 (GRCm39) Y261C probably damaging Het
Or7a39 C A 10: 78,715,288 (GRCm39) T94K probably damaging Het
Or7e165 T A 9: 19,694,507 (GRCm39) I26N possibly damaging Het
Osbpl6 G A 2: 76,379,794 (GRCm39) G128E probably damaging Het
P3h3 A T 6: 124,832,233 (GRCm39) Y218N probably damaging Het
Paxip1 A G 5: 27,986,418 (GRCm39) probably null Het
Pdia5 T C 16: 35,250,284 (GRCm39) Y225C probably damaging Het
Pik3c2g T G 6: 139,801,079 (GRCm39) M526R Het
Prox1 A G 1: 189,894,323 (GRCm39) F41L probably benign Het
Psd3 A T 8: 68,453,408 (GRCm39) F284I probably damaging Het
Rev3l T A 10: 39,699,678 (GRCm39) C1392S probably benign Het
Rfxank A T 8: 70,587,285 (GRCm39) V212E probably damaging Het
Ros1 T C 10: 52,031,222 (GRCm39) D482G probably benign Het
Sat2 A T 11: 69,513,763 (GRCm39) I94F probably damaging Het
Scarf2 T C 16: 17,621,702 (GRCm39) L384P probably damaging Het
Sec14l2 C A 11: 4,066,750 (GRCm39) E21* probably null Het
Slitrk5 T A 14: 111,918,131 (GRCm39) V585E probably benign Het
Spata31h1 T A 10: 82,123,571 (GRCm39) E3146D probably benign Het
Spata31h1 T C 10: 82,123,729 (GRCm39) S3094G probably benign Het
Tas2r130 T A 6: 131,607,226 (GRCm39) M190L probably benign Het
Ticrr G A 7: 79,341,597 (GRCm39) S1061N possibly damaging Het
Tlr9 C A 9: 106,102,463 (GRCm39) H585N probably damaging Het
Tmem219 A T 7: 126,495,947 (GRCm39) I142N probably damaging Het
Tnni2 A G 7: 141,996,915 (GRCm39) N8S probably benign Het
Tnpo2 G A 8: 85,776,748 (GRCm39) R485H probably damaging Het
Ttc8 A G 12: 98,908,547 (GRCm39) E72G possibly damaging Het
Upf1 A G 8: 70,793,268 (GRCm39) Y297H probably damaging Het
Vmn1r4 A G 6: 56,933,721 (GRCm39) K75R probably damaging Het
Vmn2r78 G A 7: 86,571,633 (GRCm39) G481D probably benign Het
Vmn2r96 A G 17: 18,803,302 (GRCm39) Y404C probably damaging Het
Vps50 T A 6: 3,602,708 (GRCm39) S942T probably benign Het
Xkr7 C A 2: 152,895,983 (GRCm39) S279* probably null Het
Zan G A 5: 137,432,416 (GRCm39) Q2294* probably null Het
Zan T C 5: 137,448,753 (GRCm39) Y1700C unknown Het
Other mutations in Igkv4-80
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02452:Igkv4-80 APN 6 68,993,816 (GRCm39) missense probably benign 0.01
IGL02630:Igkv4-80 APN 6 68,993,680 (GRCm39) nonsense probably null
IGL02711:Igkv4-80 APN 6 68,993,801 (GRCm39) missense probably damaging 1.00
IGL02934:Igkv4-80 APN 6 68,993,840 (GRCm39) missense probably benign 0.32
R4584:Igkv4-80 UTSW 6 68,993,720 (GRCm39) missense probably damaging 1.00
R4873:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R4875:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R4925:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R4934:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R4991:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R4992:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5020:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5061:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5063:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5097:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5164:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5165:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5169:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5170:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5171:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5172:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5203:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5204:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5205:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5257:Igkv4-80 UTSW 6 68,993,811 (GRCm39) missense probably benign 0.01
R5258:Igkv4-80 UTSW 6 68,993,811 (GRCm39) missense probably benign 0.01
R5380:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5381:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5382:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5383:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5415:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5416:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R6778:Igkv4-80 UTSW 6 68,993,545 (GRCm39) nonsense probably null
R7507:Igkv4-80 UTSW 6 68,993,677 (GRCm39) missense probably benign 0.02
R7994:Igkv4-80 UTSW 6 68,993,621 (GRCm39) missense probably benign 0.04
R9323:Igkv4-80 UTSW 6 68,993,751 (GRCm39) missense probably damaging 1.00
R9439:Igkv4-80 UTSW 6 68,993,793 (GRCm39) missense probably benign 0.00
R9484:Igkv4-80 UTSW 6 68,993,766 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGGAGGAAGTAGCTAGACCC -3'
(R):5'- GCTTCCTGCTAATCAGTGCC -3'

Sequencing Primer
(F):5'- AGTAGCTAGACCCTAAGGACTTAG -3'
(R):5'- TGCTAATCAGTGCCTCAGGTAACAG -3'
Posted On 2019-09-13