Incidental Mutation 'R0533:Skint5'
ID 49306
Institutional Source Beutler Lab
Gene Symbol Skint5
Ensembl Gene ENSMUSG00000078598
Gene Name selection and upkeep of intraepithelial T cells 5
Synonyms OTTMUSG00000008560
MMRRC Submission 038725-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R0533 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 113335088-113856700 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113685064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 551 (V551A)
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: V551A
SMART Domains Protein: ENSMUSP00000132470
Gene: ENSMUSG00000078598
AA Change: V551A

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: V551A
SMART Domains Protein: ENSMUSP00000129582
Gene: ENSMUSG00000078598
AA Change: V551A

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: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.5%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat T G 8: 60,984,797 (GRCm39) probably benign Het
Abcb1b A T 5: 8,914,113 (GRCm39) probably null Het
Adcy10 A G 1: 165,391,592 (GRCm39) N1283S probably benign Het
Adgrb1 T A 15: 74,413,408 (GRCm39) W531R probably damaging Het
Ago4 A G 4: 126,410,653 (GRCm39) V246A probably benign Het
Arid5b A T 10: 68,021,863 (GRCm39) D242E probably damaging Het
Arpp21 A G 9: 111,955,573 (GRCm39) V522A probably benign Het
Atg4b T A 1: 93,712,632 (GRCm39) probably benign Het
Capn12 T C 7: 28,587,108 (GRCm39) F359S possibly damaging Het
Ccdc88c A T 12: 100,920,541 (GRCm39) I360N probably damaging Het
Clic3 A G 2: 25,348,150 (GRCm39) Y99C probably damaging Het
Cux1 T C 5: 136,336,713 (GRCm39) E925G probably damaging Het
Dnah10 G A 5: 124,852,314 (GRCm39) probably null Het
Dnah17 A G 11: 118,001,363 (GRCm39) V860A possibly damaging Het
Etv5 C T 16: 22,254,825 (GRCm39) probably benign Het
Fam83a T A 15: 57,873,207 (GRCm39) N345K probably benign Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gpm6a A G 8: 55,508,409 (GRCm39) probably null Het
Grid1 T A 14: 35,031,342 (GRCm39) Y312N possibly damaging Het
Gstm4 T C 3: 107,950,841 (GRCm39) N51S probably benign Het
Hid1 A T 11: 115,239,635 (GRCm39) I765N probably damaging Het
Hmmr A G 11: 40,600,816 (GRCm39) V518A unknown Het
Itgb6 A G 2: 60,499,541 (GRCm39) V84A probably benign Het
Kbtbd4 A G 2: 90,737,948 (GRCm39) K233E probably benign Het
Kif15 A T 9: 122,838,498 (GRCm39) probably benign Het
Klre1 T C 6: 129,560,156 (GRCm39) S143P probably damaging Het
Krt81 T C 15: 101,359,270 (GRCm39) D216G probably benign Het
Mctp2 G T 7: 71,730,570 (GRCm39) H868Q probably benign Het
Morc2b G C 17: 33,354,906 (GRCm39) Y955* probably null Het
Myog A C 1: 134,218,211 (GRCm39) N140H possibly damaging Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Neil3 A T 8: 54,091,810 (GRCm39) probably null Het
Nrg1 T C 8: 32,321,273 (GRCm39) probably null Het
Or1o4 A T 17: 37,591,182 (GRCm39) L43* probably null Het
Or56a3b G A 7: 104,771,557 (GRCm39) V298I probably benign Het
Or56b35 A T 7: 104,963,579 (GRCm39) M123L probably benign Het
Pramel16 A T 4: 143,677,290 (GRCm39) D96E possibly damaging Het
Pramel23 G T 4: 143,424,590 (GRCm39) C284* probably null Het
Ptger2 T A 14: 45,226,439 (GRCm39) N6K possibly damaging Het
Ryr1 T A 7: 28,778,205 (GRCm39) E2097V probably damaging Het
Sel1l A T 12: 91,786,868 (GRCm39) F397Y probably damaging Het
Slc39a12 A G 2: 14,405,142 (GRCm39) T245A probably benign Het
Syne1 C T 10: 5,308,438 (GRCm39) V706I probably benign Het
Tbc1d8 G T 1: 39,411,855 (GRCm39) Q994K possibly damaging Het
Tnrc6b C T 15: 80,760,854 (GRCm39) T187I probably benign Het
Ttll6 G A 11: 96,045,582 (GRCm39) A600T probably benign Het
Ust T C 10: 8,123,844 (GRCm39) probably benign Het
Vmn2r71 GT GTT 7: 85,268,426 (GRCm39) probably null Het
Vstm2a C T 11: 16,213,041 (GRCm39) A142V probably damaging Het
Wfs1 T A 5: 37,131,066 (GRCm39) probably benign Het
Wrap73 G A 4: 154,236,106 (GRCm39) G145D probably damaging Het
Wrap73 G A 4: 154,240,611 (GRCm39) V368M possibly damaging Het
Xrra1 T A 7: 99,524,352 (GRCm39) probably null Het
Zfhx2 C T 14: 55,301,547 (GRCm39) V2146I probably benign Het
Zfp335 A T 2: 164,749,842 (GRCm39) L185* probably null 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
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
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 2013-06-12