Incidental Mutation 'R1765:Skint5'
ID 194270
Institutional Source Beutler Lab
Gene Symbol Skint5
Ensembl Gene ENSMUSG00000078598
Gene Name selection and upkeep of intraepithelial T cells 5
Synonyms OTTMUSG00000008560
MMRRC Submission 039797-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R1765 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 113335088-113856700 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 113434858 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 1037 (T1037K)
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: T1037K
SMART Domains Protein: ENSMUSP00000132470
Gene: ENSMUSG00000078598
AA Change: T1037K

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: T1037K
SMART Domains Protein: ENSMUSP00000129582
Gene: ENSMUSG00000078598
AA Change: T1037K

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
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.8%
Validation Efficiency 99% (90/91)
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik G T 15: 59,887,194 (GRCm39) C415* probably null Het
Adamtsl2 A C 2: 26,992,842 (GRCm39) I652L probably benign Het
Adgrl4 T C 3: 151,248,872 (GRCm39) I720T probably damaging Het
Agrn A T 4: 156,261,284 (GRCm39) C604* probably null Het
Amh AGCGCCTTGG AG 10: 80,641,419 (GRCm39) probably null Het
B3galt2 C A 1: 143,522,207 (GRCm39) N114K probably benign Het
Bud23 A T 5: 135,084,897 (GRCm39) M59K probably benign Het
C3 C T 17: 57,531,401 (GRCm39) probably null Het
C9orf72 A C 4: 35,197,098 (GRCm39) H322Q probably damaging Het
Cc2d2a A T 5: 43,871,873 (GRCm39) D903V probably damaging Het
Ccdc9b G A 2: 118,591,128 (GRCm39) A135V probably benign Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdan1 A C 2: 120,551,230 (GRCm39) L1097V probably damaging Het
Cdc26 T A 4: 62,313,155 (GRCm39) N62I probably benign Het
Cdc27 G T 11: 104,425,607 (GRCm39) Q70K probably damaging Het
Cenpq A T 17: 41,235,178 (GRCm39) probably null Het
Cep295 T C 9: 15,239,200 (GRCm39) S1858G probably damaging Het
Clasp1 T C 1: 118,433,261 (GRCm39) S247P probably damaging Het
Cyp2w1 C T 5: 139,339,623 (GRCm39) T71I probably damaging Het
Dcaf1 T C 9: 106,741,793 (GRCm39) F1336S probably damaging Het
Dennd6b G A 15: 89,074,506 (GRCm39) Q104* probably null Het
Dglucy T A 12: 100,816,361 (GRCm39) probably null Het
Dnajc9 A G 14: 20,438,158 (GRCm39) V148A possibly damaging Het
Dnmbp T A 19: 43,890,579 (GRCm39) D396V possibly damaging Het
Dock10 T A 1: 80,583,540 (GRCm39) I221F probably damaging Het
Dscam T C 16: 96,486,579 (GRCm39) N1032S probably benign Het
Dsg4 A C 18: 20,589,888 (GRCm39) Y346S probably benign Het
Dync1i2 A G 2: 71,079,759 (GRCm39) H417R probably benign Het
Dysf G A 6: 84,167,884 (GRCm39) probably null Het
Elovl1 A G 4: 118,287,707 (GRCm39) M1V probably null Het
Eva1c A G 16: 90,701,135 (GRCm39) S257G probably benign Het
Eya2 A T 2: 165,566,723 (GRCm39) D258V probably damaging Het
Fam193a A G 5: 34,593,841 (GRCm39) T113A probably damaging Het
Fbxw15 G A 9: 109,387,314 (GRCm39) S227F probably damaging Het
Fstl5 G T 3: 76,500,783 (GRCm39) R404L possibly damaging Het
Glud1 T C 14: 34,047,541 (GRCm39) probably benign Het
Gm10770 A C 2: 150,021,258 (GRCm39) H86Q probably damaging Het
Gzme C T 14: 56,355,871 (GRCm39) G147D probably damaging Het
Herc3 T C 6: 58,865,645 (GRCm39) V746A probably damaging Het
Hmga1 A G 17: 27,778,592 (GRCm39) E17G probably damaging Het
Kdelr2 A T 5: 143,406,567 (GRCm39) K206* probably null Het
Kng2 A G 16: 22,806,993 (GRCm39) probably null Het
Lrrc41 G A 4: 115,946,248 (GRCm39) R321H possibly damaging Het
Mapkapk2 A T 1: 130,986,498 (GRCm39) M1K probably null Het
Me2 A G 18: 73,924,929 (GRCm39) F263L probably damaging Het
Mkks A G 2: 136,722,287 (GRCm39) L290P probably damaging Het
Mmp12 T A 9: 7,354,772 (GRCm39) I255N probably damaging Het
Mogs A G 6: 83,093,784 (GRCm39) D251G probably benign Het
Morf4l1 T A 9: 89,984,401 (GRCm39) Y65F possibly damaging Het
Neb T C 2: 52,094,676 (GRCm39) D5169G probably damaging Het
Nin A G 12: 70,089,665 (GRCm39) L1250P probably damaging Het
Nomo1 G T 7: 45,715,717 (GRCm39) G721V possibly damaging Het
Notch2 T G 3: 98,029,242 (GRCm39) C1002G probably damaging Het
Npat T C 9: 53,481,522 (GRCm39) Y1077H probably benign Het
Or1e1c T A 11: 73,266,170 (GRCm39) N198K probably damaging Het
Or4g17 G A 2: 111,209,491 (GRCm39) V49I probably benign Het
Or4p21 A T 2: 88,276,367 (GRCm39) F305Y probably damaging Het
Or5h25 A G 16: 58,930,118 (GRCm39) L285P probably damaging Het
Or8c16 T C 9: 38,130,548 (GRCm39) I143T probably benign Het
Otop2 A T 11: 115,215,504 (GRCm39) I142F probably benign Het
Pacsin3 A G 2: 91,093,460 (GRCm39) E279G possibly damaging Het
Pafah2 A G 4: 134,140,758 (GRCm39) T243A probably benign Het
Pcdhgc5 A G 18: 37,954,913 (GRCm39) H729R probably benign Het
Plcd1 T C 9: 118,900,874 (GRCm39) D756G probably damaging Het
Prune2 A G 19: 17,102,962 (GRCm39) E2707G probably damaging Het
Rit2 C T 18: 31,449,951 (GRCm39) G16S probably damaging Het
Sec24c A G 14: 20,738,922 (GRCm39) probably benign Het
Slc28a2 T A 2: 122,290,876 (GRCm39) probably null Het
Slc41a2 G A 10: 83,137,130 (GRCm39) A259V probably damaging Het
Slc6a17 T A 3: 107,380,895 (GRCm39) I537F possibly damaging Het
Slco1a7 T C 6: 141,700,084 (GRCm39) probably benign Het
Smchd1 A T 17: 71,707,196 (GRCm39) probably benign Het
Smg1 T C 7: 117,738,938 (GRCm39) I3489V probably benign Het
Sytl3 T C 17: 6,967,082 (GRCm39) L142P probably damaging Het
Tektl1 A T 10: 78,584,502 (GRCm39) M340K probably benign Het
Tfr2 C T 5: 137,581,707 (GRCm39) T598I probably damaging Het
Tmc2 A G 2: 130,102,145 (GRCm39) Q770R probably benign Het
Tnc C T 4: 63,932,231 (GRCm39) V728M probably damaging Het
Trim68 A T 7: 102,329,597 (GRCm39) M177K possibly damaging Het
Trmt11 T C 10: 30,435,184 (GRCm39) D325G probably benign Het
Ube3a C T 7: 58,935,862 (GRCm39) T582I probably damaging Het
Usp13 G A 3: 32,969,919 (GRCm39) E682K probably benign Het
Usp9y A G Y: 1,384,454 (GRCm39) V688A possibly damaging Het
Uts2r A G 11: 121,052,095 (GRCm39) T320A possibly damaging Het
Vmn1r34 A T 6: 66,614,480 (GRCm39) M86K probably damaging Het
Vsig10 A G 5: 117,456,880 (GRCm39) probably benign Het
Zbtb41 T A 1: 139,368,132 (GRCm39) C607S 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
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
R6318:Skint5 UTSW 4 113,374,330 (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
Posted On 2014-05-23