Incidental Mutation 'R0006:Skint5'
ID 43629
Institutional Source Beutler Lab
Gene Symbol Skint5
Ensembl Gene ENSMUSG00000078598
Gene Name selection and upkeep of intraepithelial T cells 5
Synonyms OTTMUSG00000008560
MMRRC Submission 041980-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R0006 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 113335088-113856700 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 113751059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169631] [ENSMUST00000170105] [ENSMUST00000171627]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000169631
SMART Domains Protein: ENSMUSP00000132470
Gene: ENSMUSG00000078598

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 probably benign
Transcript: ENSMUST00000170105
SMART Domains Protein: ENSMUSP00000129582
Gene: ENSMUSG00000078598

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
Predicted Effect probably benign
Transcript: ENSMUST00000171627
SMART Domains Protein: ENSMUSP00000130639
Gene: ENSMUSG00000078598

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IGv 44 125 2.48e-8 SMART
Pfam:C2-set_2 147 225 3.1e-6 PFAM
internal_repeat_1 268 354 1.61e-12 PROSPERO
low complexity region 356 368 N/A INTRINSIC
low complexity region 380 388 N/A INTRINSIC
low complexity region 401 410 N/A INTRINSIC
internal_repeat_1 415 501 1.61e-12 PROSPERO
low complexity region 506 515 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.3%
Validation Efficiency 97% (67/69)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp1 A G 11: 5,813,935 (GRCm39) probably benign Het
Aldh3a1 G A 11: 61,107,927 (GRCm39) V324M probably damaging Het
Als2cl T A 9: 110,723,686 (GRCm39) L694Q possibly damaging Het
Appl2 A G 10: 83,438,762 (GRCm39) F556L probably damaging Het
Atad2b T A 12: 4,992,030 (GRCm39) S210T possibly damaging Het
Aurka A G 2: 172,201,673 (GRCm39) probably null Het
Boc C T 16: 44,316,812 (GRCm39) V444I probably benign Het
Cfap61 G A 2: 145,919,232 (GRCm39) V655I probably benign Het
Chd8 A G 14: 52,472,750 (GRCm39) I351T possibly damaging Het
Chid1 T A 7: 141,076,339 (GRCm39) probably benign Het
Cyp3a41a T A 5: 145,641,606 (GRCm39) H288L probably benign Het
Dnase2b T A 3: 146,288,244 (GRCm39) I284F probably damaging Het
Dock2 A G 11: 34,262,453 (GRCm39) probably benign Het
Dst C T 1: 34,267,999 (GRCm39) T5325I probably benign Het
Erbb3 A G 10: 128,409,279 (GRCm39) probably null Het
Fancl A G 11: 26,419,695 (GRCm39) N316S possibly damaging Het
Farsa G T 8: 85,587,934 (GRCm39) probably benign Het
Fibcd1 T G 2: 31,728,599 (GRCm39) D86A probably damaging Het
Gab1 A T 8: 81,496,359 (GRCm39) M617K possibly damaging Het
Gabrd C A 4: 155,473,058 (GRCm39) V72L probably damaging Het
Ggh C A 4: 20,054,155 (GRCm39) T150K possibly damaging Het
Gnb3 G A 6: 124,812,767 (GRCm39) probably benign Het
Hephl1 T A 9: 14,988,060 (GRCm39) T683S probably benign Het
Hmcn1 G A 1: 150,684,427 (GRCm39) P381L probably damaging Het
Hspa8 T G 9: 40,715,925 (GRCm39) N544K probably benign Het
Hspg2 C T 4: 137,247,242 (GRCm39) T1155I probably damaging Het
Igdcc4 C T 9: 65,042,382 (GRCm39) probably benign Het
Jazf1 A G 6: 52,871,071 (GRCm39) probably benign Het
Kntc1 T A 5: 123,927,201 (GRCm39) S1219T probably benign Het
L3mbtl1 A T 2: 162,806,489 (GRCm39) Y460F possibly damaging Het
Lcor A G 19: 41,573,338 (GRCm39) T698A probably benign Het
Lyrm7 T A 11: 54,739,423 (GRCm39) T76S probably benign Het
Map1b C T 13: 99,571,810 (GRCm39) V304M probably damaging Het
Mcub A C 3: 129,727,414 (GRCm39) probably benign Het
Muc13 T C 16: 33,623,518 (GRCm39) S271P probably damaging Het
Myo16 A G 8: 10,525,988 (GRCm39) K843E probably damaging Het
Nav2 A G 7: 49,102,978 (GRCm39) E531G possibly damaging Het
Niban3 A G 8: 72,057,688 (GRCm39) probably benign Het
Nup188 T C 2: 30,212,035 (GRCm39) V553A probably benign Het
Or1e16 A G 11: 73,286,314 (GRCm39) F178S probably damaging Het
Or1e1c A G 11: 73,266,414 (GRCm39) M283V possibly damaging Het
Or52d1 A G 7: 103,755,527 (GRCm39) I14V probably benign Het
Or6z1 A G 7: 6,504,610 (GRCm39) I205T possibly damaging Het
Or8b9 T A 9: 37,766,516 (GRCm39) V134D possibly damaging Het
P4ha3 C T 7: 99,968,155 (GRCm39) R378* probably null Het
Rap1gds1 G T 3: 138,689,632 (GRCm39) probably null Het
Rbfox1 T A 16: 7,148,284 (GRCm39) S244R probably benign Het
Rpp40 G A 13: 36,080,718 (GRCm39) P339S probably damaging Het
Rsph4a T C 10: 33,785,144 (GRCm39) C148R probably damaging Het
Sptbn1 A G 11: 30,073,855 (GRCm39) S1405P probably damaging Het
Tex35 T C 1: 156,927,314 (GRCm39) K154E possibly damaging Het
Thada T C 17: 84,533,468 (GRCm39) N1661S probably benign Het
Tle4 A G 19: 14,444,078 (GRCm39) probably benign Het
Tnxb T C 17: 34,901,266 (GRCm39) S1027P probably benign Het
Tpm3 T A 3: 89,994,968 (GRCm39) probably benign Het
Ubr4 T C 4: 139,158,960 (GRCm39) F2438L probably benign Het
Uggt2 A T 14: 119,287,075 (GRCm39) F640L probably benign Het
Vmn1r20 T G 6: 57,409,290 (GRCm39) H205Q probably damaging Het
Wbp2 T C 11: 115,970,614 (GRCm39) probably null Het
Xirp1 T C 9: 119,846,520 (GRCm39) I788V probably benign Het
Zc3hav1 A G 6: 38,296,637 (GRCm39) probably null Het
Zfp687 A G 3: 94,918,767 (GRCm39) I335T probably damaging Het
Zfpm1 A G 8: 123,061,227 (GRCm39) Y264C probably damaging 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
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
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 2013-05-29