Incidental Mutation 'R6318:Skint5'
ID 510265
Institutional Source Beutler Lab
Gene Symbol Skint5
Ensembl Gene ENSMUSG00000078598
Gene Name selection and upkeep of intraepithelial T cells 5
Synonyms OTTMUSG00000008560
MMRRC Submission 044473-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R6318 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 113335088-113856700 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 113374330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 1253 (D1253V)
Ref Sequence ENSEMBL: ENSMUSP00000129582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169631] [ENSMUST00000170105]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000169631
AA Change: D1274V
SMART Domains Protein: ENSMUSP00000132470
Gene: ENSMUSG00000078598
AA Change: D1274V

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
IGv 58 139 2.48e-8 SMART
Blast:IG_like 173 249 2e-16 BLAST
internal_repeat_2 282 614 9.14e-29 PROSPERO
internal_repeat_1 284 770 2.19e-39 PROSPERO
low complexity region 772 781 N/A INTRINSIC
internal_repeat_1 808 1294 2.19e-39 PROSPERO
internal_repeat_2 995 1306 9.14e-29 PROSPERO
transmembrane domain 1322 1341 N/A INTRINSIC
transmembrane domain 1361 1383 N/A INTRINSIC
transmembrane domain 1398 1420 N/A INTRINSIC
transmembrane domain 1441 1463 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000170105
AA Change: D1253V
SMART Domains Protein: ENSMUSP00000129582
Gene: ENSMUSG00000078598
AA Change: D1253V

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
IGv 58 139 2.48e-8 SMART
Pfam:C2-set_2 162 238 3.9e-6 PFAM
internal_repeat_3 276 364 2.13e-10 PROSPERO
internal_repeat_2 282 593 3.81e-24 PROSPERO
internal_repeat_1 284 749 6.25e-39 PROSPERO
low complexity region 751 760 N/A INTRINSIC
low complexity region 772 781 N/A INTRINSIC
internal_repeat_1 808 1273 6.25e-39 PROSPERO
internal_repeat_2 995 1285 3.81e-24 PROSPERO
internal_repeat_3 1196 1287 2.13e-10 PROSPERO
transmembrane domain 1301 1320 N/A INTRINSIC
transmembrane domain 1340 1362 N/A INTRINSIC
transmembrane domain 1377 1399 N/A INTRINSIC
transmembrane domain 1420 1442 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.3%
Validation Efficiency 99% (74/75)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A G 9: 108,270,474 (GRCm39) T13A possibly damaging Het
Abcg4 T C 9: 44,186,645 (GRCm39) T500A probably benign Het
Adcy4 T A 14: 56,006,681 (GRCm39) I1051F probably damaging Het
Adgrg6 A T 10: 14,343,241 (GRCm39) N235K probably benign Het
Aldh3a2 A C 11: 61,153,245 (GRCm39) Y160* probably null Het
Arhgef4 G A 1: 34,762,558 (GRCm39) A605T unknown Het
Armt1 T C 10: 4,400,859 (GRCm39) M202T probably benign Het
Brd2 C A 17: 34,331,872 (GRCm39) V349F probably damaging Het
Btnl10 A T 11: 58,817,691 (GRCm39) probably benign Het
Ccdc178 A G 18: 22,253,591 (GRCm39) V216A possibly damaging Het
Ccdc85c A T 12: 108,240,968 (GRCm39) L142Q unknown Het
Cdc27 A T 11: 104,419,520 (GRCm39) S172T probably damaging Het
Ceacam14 T C 7: 17,548,237 (GRCm39) I109T probably damaging Het
Ces5a C T 8: 94,261,211 (GRCm39) G72E probably damaging Het
Cfb A G 17: 35,080,800 (GRCm39) Y66H possibly damaging Het
Clec14a G A 12: 58,315,001 (GRCm39) P207L probably damaging Het
Clec16a G A 16: 10,448,652 (GRCm39) R599H probably damaging Het
Csmd1 A T 8: 15,953,212 (GRCm39) I3423N probably damaging Het
Cyp4a29 C A 4: 115,107,396 (GRCm39) N243K probably benign Het
Ddx59 T C 1: 136,344,610 (GRCm39) F94L probably damaging Het
Dusp3 A C 11: 101,877,697 (GRCm39) V19G probably benign Het
Fat3 T C 9: 15,828,280 (GRCm39) probably benign Het
Fgfr4 T A 13: 55,313,921 (GRCm39) V545E probably damaging Het
Fxn G T 19: 24,257,790 (GRCm39) A47D probably damaging Het
Gdpgp1 A T 7: 79,888,898 (GRCm39) I310F possibly damaging Het
Gm7210 A T 7: 11,328,040 (GRCm39) noncoding transcript Het
Grm7 G T 6: 111,335,836 (GRCm39) C749F probably damaging Het
Hps4 T G 5: 112,494,495 (GRCm39) V26G probably damaging Het
Igf1r A G 7: 67,814,981 (GRCm39) D294G probably benign Het
Immp1l T C 2: 105,761,172 (GRCm39) F27S probably benign Het
Kcnk3 T A 5: 30,779,930 (GRCm39) C327S probably damaging Het
Kif13a T A 13: 46,968,683 (GRCm39) probably null Het
Krtap5-4 T C 7: 141,857,827 (GRCm39) S166P unknown Het
Lyst G A 13: 13,917,896 (GRCm39) D3319N possibly damaging Het
Malrd1 T G 2: 16,047,078 (GRCm39) S1735A unknown Het
Myh4 A G 11: 67,134,268 (GRCm39) T308A probably benign Het
Myh8 A T 11: 67,190,167 (GRCm39) Q1269L probably benign Het
Myo15b G A 11: 115,781,657 (GRCm39) V1367I probably damaging Het
Nae1 T C 8: 105,250,269 (GRCm39) D208G probably benign Het
Nelfe T A 17: 35,073,432 (GRCm39) V296D probably damaging Het
Nkapd1 T C 9: 50,518,761 (GRCm39) R284G probably benign Het
Npepps A T 11: 97,109,374 (GRCm39) V734E probably damaging Het
Ogdh A G 11: 6,299,390 (GRCm39) N752S probably damaging Het
Or11i1 T C 3: 106,729,503 (GRCm39) D124G probably damaging Het
Or3a1b A T 11: 74,012,547 (GRCm39) Q144L possibly damaging Het
Or5t9 A G 2: 86,659,998 (GRCm39) I301V possibly damaging Het
Or8b1 T C 9: 38,399,673 (GRCm39) M116T probably benign Het
Otof C A 5: 30,571,888 (GRCm39) G171V probably damaging Het
Phtf2 A T 5: 21,006,939 (GRCm39) V208D probably damaging Het
Pkn1 T A 8: 84,410,220 (GRCm39) T340S probably damaging Het
Plcd4 C T 1: 74,602,753 (GRCm39) L668F possibly damaging Het
Plch1 C T 3: 63,688,811 (GRCm39) W131* probably null Het
Prss50 A T 9: 110,690,367 (GRCm39) D170V probably damaging Het
Ptprg T C 14: 12,237,118 (GRCm38) V604A probably damaging Het
Rab33b T C 3: 51,400,826 (GRCm39) V100A probably damaging Het
Rbm26 T A 14: 105,368,971 (GRCm39) D736V probably damaging Het
Rela C A 19: 5,696,992 (GRCm39) P400T probably benign Het
Rpusd4 T C 9: 35,179,334 (GRCm39) L50P probably damaging Het
Scn10a A C 9: 119,456,181 (GRCm39) Y1214D probably damaging Het
Sema3c A G 5: 17,877,430 (GRCm39) E179G probably damaging Het
Sp4 G T 12: 118,201,913 (GRCm39) P771H probably damaging Het
Sphkap T A 1: 83,256,099 (GRCm39) Y263F probably damaging Het
Ssbp1 G A 6: 40,453,687 (GRCm39) V78I probably benign Het
St3gal6 A G 16: 58,306,769 (GRCm39) I87T probably benign Het
Tango6 T A 8: 107,545,129 (GRCm39) D997E probably benign Het
Tpr C T 1: 150,321,639 (GRCm39) P2265S possibly damaging Het
Ttc7b A T 12: 100,291,936 (GRCm39) F212Y probably damaging Het
Ubc A G 5: 125,465,324 (GRCm39) M1T probably null Het
Vill G C 9: 118,892,716 (GRCm39) Q376H probably benign Het
Yes1 T C 5: 32,809,030 (GRCm39) I132T possibly damaging Het
Ythdc2 A G 18: 44,993,444 (GRCm39) T830A probably benign Het
Zbtb41 T A 1: 139,358,044 (GRCm39) F451I possibly damaging Het
Zfp995 C T 17: 22,099,493 (GRCm39) C247Y probably benign Het
Other mutations in Skint5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Skint5 APN 4 113,400,070 (GRCm39) critical splice donor site probably null
IGL01288:Skint5 APN 4 113,381,332 (GRCm39) intron probably benign
IGL01313:Skint5 APN 4 113,662,361 (GRCm39) missense unknown
IGL01446:Skint5 APN 4 113,800,019 (GRCm39) missense probably damaging 1.00
IGL01861:Skint5 APN 4 113,417,021 (GRCm39) splice site probably benign
IGL01955:Skint5 APN 4 113,480,933 (GRCm39) critical splice donor site probably null
IGL02150:Skint5 APN 4 113,742,988 (GRCm39) missense unknown
IGL02190:Skint5 APN 4 113,797,962 (GRCm39) missense possibly damaging 0.93
IGL02271:Skint5 APN 4 113,794,778 (GRCm39) splice site probably null
IGL02426:Skint5 APN 4 113,797,981 (GRCm39) missense probably benign 0.08
IGL02484:Skint5 APN 4 113,799,750 (GRCm39) nonsense probably null
IGL02548:Skint5 APN 4 113,588,273 (GRCm39) missense unknown
IGL02556:Skint5 APN 4 113,797,932 (GRCm39) missense probably damaging 0.99
IGL02674:Skint5 APN 4 113,487,582 (GRCm39) splice site probably benign
IGL02697:Skint5 APN 4 113,336,910 (GRCm39) missense probably benign 0.23
IGL02710:Skint5 APN 4 113,335,156 (GRCm39) missense unknown
IGL02721:Skint5 APN 4 113,799,746 (GRCm39) missense probably damaging 0.96
IGL02750:Skint5 APN 4 113,396,559 (GRCm39) missense unknown
IGL03121:Skint5 APN 4 113,574,284 (GRCm39) missense unknown
IGL03167:Skint5 APN 4 113,751,047 (GRCm39) missense unknown
IGL03247:Skint5 APN 4 113,798,005 (GRCm39) missense probably damaging 1.00
IGL03264:Skint5 APN 4 113,343,854 (GRCm39) missense unknown
IGL03281:Skint5 APN 4 113,524,415 (GRCm39) missense unknown
IGL03353:Skint5 APN 4 113,599,379 (GRCm39) missense unknown
IGL03377:Skint5 APN 4 113,620,735 (GRCm39) missense unknown
PIT4377001:Skint5 UTSW 4 113,454,900 (GRCm39) missense unknown
R0006:Skint5 UTSW 4 113,751,059 (GRCm39) splice site probably benign
R0026:Skint5 UTSW 4 113,403,665 (GRCm39) splice site probably benign
R0096:Skint5 UTSW 4 113,454,965 (GRCm39) splice site probably benign
R0096:Skint5 UTSW 4 113,454,965 (GRCm39) splice site probably benign
R0277:Skint5 UTSW 4 113,794,818 (GRCm39) missense probably benign 0.04
R0323:Skint5 UTSW 4 113,794,818 (GRCm39) missense probably benign 0.04
R0369:Skint5 UTSW 4 113,369,220 (GRCm39) critical splice donor site probably null
R0375:Skint5 UTSW 4 113,562,793 (GRCm39) missense unknown
R0464:Skint5 UTSW 4 113,392,928 (GRCm39) missense unknown
R0479:Skint5 UTSW 4 113,512,869 (GRCm39) missense unknown
R0507:Skint5 UTSW 4 113,425,127 (GRCm39) splice site probably null
R0533:Skint5 UTSW 4 113,685,064 (GRCm39) missense unknown
R0628:Skint5 UTSW 4 113,588,266 (GRCm39) nonsense probably null
R0645:Skint5 UTSW 4 113,620,679 (GRCm39) missense unknown
R1201:Skint5 UTSW 4 113,413,342 (GRCm39) missense unknown
R1240:Skint5 UTSW 4 113,574,304 (GRCm39) missense unknown
R1270:Skint5 UTSW 4 113,799,856 (GRCm39) nonsense probably null
R1390:Skint5 UTSW 4 113,512,881 (GRCm39) missense unknown
R1398:Skint5 UTSW 4 113,636,268 (GRCm39) missense unknown
R1438:Skint5 UTSW 4 113,413,308 (GRCm39) splice site probably benign
R1591:Skint5 UTSW 4 113,856,651 (GRCm39) critical splice donor site probably null
R1631:Skint5 UTSW 4 113,341,123 (GRCm39) missense probably benign 0.23
R1653:Skint5 UTSW 4 113,347,875 (GRCm39) missense unknown
R1722:Skint5 UTSW 4 113,703,508 (GRCm39) splice site probably null
R1735:Skint5 UTSW 4 113,420,656 (GRCm39) missense unknown
R1765:Skint5 UTSW 4 113,434,858 (GRCm39) missense unknown
R2054:Skint5 UTSW 4 113,676,360 (GRCm39) critical splice donor site probably null
R2058:Skint5 UTSW 4 113,727,897 (GRCm39) missense possibly damaging 0.53
R2197:Skint5 UTSW 4 113,798,046 (GRCm39) missense probably damaging 1.00
R2239:Skint5 UTSW 4 113,403,733 (GRCm39) missense unknown
R2380:Skint5 UTSW 4 113,403,733 (GRCm39) missense unknown
R2406:Skint5 UTSW 4 113,799,864 (GRCm39) missense probably damaging 0.97
R2512:Skint5 UTSW 4 113,487,616 (GRCm39) missense unknown
R2913:Skint5 UTSW 4 113,381,289 (GRCm39) intron probably benign
R3522:Skint5 UTSW 4 113,614,102 (GRCm39) critical splice donor site probably null
R3779:Skint5 UTSW 4 113,636,237 (GRCm39) splice site probably benign
R3815:Skint5 UTSW 4 113,703,496 (GRCm39) missense possibly damaging 0.86
R3815:Skint5 UTSW 4 113,486,319 (GRCm39) splice site probably benign
R3816:Skint5 UTSW 4 113,486,319 (GRCm39) splice site probably benign
R3817:Skint5 UTSW 4 113,486,319 (GRCm39) splice site probably benign
R3818:Skint5 UTSW 4 113,486,319 (GRCm39) splice site probably benign
R3837:Skint5 UTSW 4 113,797,938 (GRCm39) missense probably damaging 1.00
R3943:Skint5 UTSW 4 113,799,950 (GRCm39) missense probably damaging 1.00
R3944:Skint5 UTSW 4 113,799,950 (GRCm39) missense probably damaging 1.00
R4037:Skint5 UTSW 4 113,743,011 (GRCm39) missense unknown
R4038:Skint5 UTSW 4 113,743,011 (GRCm39) missense unknown
R4039:Skint5 UTSW 4 113,743,011 (GRCm39) missense unknown
R4280:Skint5 UTSW 4 113,799,749 (GRCm39) missense probably damaging 1.00
R4308:Skint5 UTSW 4 113,341,164 (GRCm39) missense unknown
R4386:Skint5 UTSW 4 113,341,090 (GRCm39) missense probably benign 0.23
R4513:Skint5 UTSW 4 113,599,382 (GRCm39) missense unknown
R4575:Skint5 UTSW 4 113,524,390 (GRCm39) missense unknown
R4631:Skint5 UTSW 4 113,486,314 (GRCm39) critical splice acceptor site probably null
R4722:Skint5 UTSW 4 113,751,052 (GRCm39) missense unknown
R4854:Skint5 UTSW 4 113,437,725 (GRCm39) missense unknown
R5010:Skint5 UTSW 4 113,403,734 (GRCm39) missense unknown
R5070:Skint5 UTSW 4 113,652,735 (GRCm39) missense unknown
R5158:Skint5 UTSW 4 113,599,409 (GRCm39) missense unknown
R5163:Skint5 UTSW 4 113,652,762 (GRCm39) missense unknown
R5190:Skint5 UTSW 4 113,620,711 (GRCm39) missense unknown
R5232:Skint5 UTSW 4 113,434,841 (GRCm39) missense unknown
R5257:Skint5 UTSW 4 113,434,859 (GRCm39) missense unknown
R5499:Skint5 UTSW 4 113,799,700 (GRCm39) critical splice donor site probably null
R5569:Skint5 UTSW 4 113,545,903 (GRCm39) critical splice acceptor site probably null
R5776:Skint5 UTSW 4 113,620,700 (GRCm39) missense unknown
R5986:Skint5 UTSW 4 113,852,845 (GRCm39) missense probably benign 0.11
R5987:Skint5 UTSW 4 113,743,005 (GRCm39) missense unknown
R5995:Skint5 UTSW 4 113,751,029 (GRCm39) missense unknown
R6063:Skint5 UTSW 4 113,347,842 (GRCm39) missense probably benign 0.23
R6074:Skint5 UTSW 4 113,662,397 (GRCm39) missense unknown
R6111:Skint5 UTSW 4 113,562,845 (GRCm39) missense unknown
R6173:Skint5 UTSW 4 113,392,907 (GRCm39) missense unknown
R6238:Skint5 UTSW 4 113,800,064 (GRCm39) splice site probably null
R6248:Skint5 UTSW 4 113,636,286 (GRCm39) missense unknown
R6370:Skint5 UTSW 4 113,471,307 (GRCm39) missense unknown
R6404:Skint5 UTSW 4 113,799,806 (GRCm39) missense probably damaging 0.97
R6499:Skint5 UTSW 4 113,396,552 (GRCm39) missense unknown
R6646:Skint5 UTSW 4 113,797,974 (GRCm39) missense possibly damaging 0.94
R6737:Skint5 UTSW 4 113,392,936 (GRCm39) missense unknown
R6795:Skint5 UTSW 4 113,524,420 (GRCm39) missense unknown
R6815:Skint5 UTSW 4 113,574,324 (GRCm39) critical splice acceptor site probably null
R6935:Skint5 UTSW 4 113,799,793 (GRCm39) missense possibly damaging 0.56
R7028:Skint5 UTSW 4 113,798,036 (GRCm39) missense probably damaging 1.00
R7043:Skint5 UTSW 4 113,574,304 (GRCm39) missense unknown
R7071:Skint5 UTSW 4 113,636,277 (GRCm39) missense unknown
R7142:Skint5 UTSW 4 113,428,791 (GRCm39) missense unknown
R7197:Skint5 UTSW 4 113,437,679 (GRCm39) critical splice donor site probably null
R7208:Skint5 UTSW 4 113,396,536 (GRCm39) missense unknown
R7297:Skint5 UTSW 4 113,400,131 (GRCm39) missense unknown
R7470:Skint5 UTSW 4 113,743,000 (GRCm39) missense unknown
R7470:Skint5 UTSW 4 113,614,128 (GRCm39) missense unknown
R7500:Skint5 UTSW 4 113,417,035 (GRCm39) missense unknown
R7547:Skint5 UTSW 4 113,483,785 (GRCm39) missense unknown
R7556:Skint5 UTSW 4 113,425,162 (GRCm39) missense unknown
R7619:Skint5 UTSW 4 113,381,305 (GRCm39) missense unknown
R7629:Skint5 UTSW 4 113,799,857 (GRCm39) missense probably damaging 1.00
R7646:Skint5 UTSW 4 113,620,739 (GRCm39) critical splice acceptor site probably null
R7725:Skint5 UTSW 4 113,685,099 (GRCm39) missense unknown
R7788:Skint5 UTSW 4 113,403,715 (GRCm39) missense unknown
R7818:Skint5 UTSW 4 113,799,923 (GRCm39) missense possibly damaging 0.56
R7819:Skint5 UTSW 4 113,417,032 (GRCm39) missense unknown
R7958:Skint5 UTSW 4 113,480,980 (GRCm39) missense unknown
R8150:Skint5 UTSW 4 113,798,087 (GRCm39) missense probably benign 0.21
R8214:Skint5 UTSW 4 113,662,139 (GRCm39) splice site probably null
R8413:Skint5 UTSW 4 113,572,900 (GRCm39) missense unknown
R8420:Skint5 UTSW 4 113,437,679 (GRCm39) critical splice donor site probably null
R8459:Skint5 UTSW 4 113,703,481 (GRCm39) nonsense probably null
R8703:Skint5 UTSW 4 113,733,207 (GRCm39) missense unknown
R8710:Skint5 UTSW 4 113,483,787 (GRCm39) missense unknown
R8927:Skint5 UTSW 4 113,341,099 (GRCm39) missense probably benign 0.23
R8928:Skint5 UTSW 4 113,341,099 (GRCm39) missense probably benign 0.23
R8950:Skint5 UTSW 4 113,374,349 (GRCm39) missense unknown
R9047:Skint5 UTSW 4 113,512,919 (GRCm39) missense unknown
R9053:Skint5 UTSW 4 113,403,684 (GRCm39) missense unknown
R9216:Skint5 UTSW 4 113,392,955 (GRCm39) missense unknown
R9441:Skint5 UTSW 4 113,347,848 (GRCm39) missense unknown
R9551:Skint5 UTSW 4 113,798,052 (GRCm39) missense possibly damaging 0.93
R9552:Skint5 UTSW 4 113,798,052 (GRCm39) missense possibly damaging 0.93
R9750:Skint5 UTSW 4 113,727,866 (GRCm39) missense unknown
X0028:Skint5 UTSW 4 113,548,306 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ACTAATGCTGGTGATGCACA -3'
(R):5'- CAGTGAGTGTATATCCAAGAAAGGTA -3'

Sequencing Primer
(F):5'- ATGCACATGGTTTGGCAGTATCC -3'
(R):5'- AGGTACACCAGAACTTTTCGTGC -3'
Posted On 2018-04-02