Incidental Mutation 'IGL00990:Skint5'
ID306782
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Skint5
Ensembl Gene ENSMUSG00000078598
Gene Nameselection and upkeep of intraepithelial T cells 5
SynonymsOTTMUSG00000008560
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.281) question?
Stock #IGL00990
Quality Score
Status
Chromosome4
Chromosomal Location113477891-113999503 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 113542873 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169631] [ENSMUST00000170105]
Predicted Effect probably null
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 null
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 150 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430531B16Rik A C 7: 139,978,103 V60G probably damaging Het
Adcy8 C A 15: 64,822,313 V372L probably benign Het
Bod1l T C 5: 41,828,865 D458G probably benign Het
C87414 T A 5: 93,636,477 Q376L probably damaging Het
Cacna1c G T 6: 118,613,295 H1416N probably damaging Het
Cacna2d1 T C 5: 15,935,069 I19T probably benign Het
Cadps T A 14: 12,715,374 T153S possibly damaging Het
Cd200r1 A T 16: 44,794,309 D317V possibly damaging Het
Dcaf5 C T 12: 80,338,832 R840H probably benign Het
Dnhd1 A C 7: 105,721,688 H4725P possibly damaging Het
Echdc3 C A 2: 6,195,727 L149F probably benign Het
Efhb T G 17: 53,462,621 Q220P possibly damaging Het
Efr3b A T 12: 3,975,411 Y18* probably null Het
Eri1 T C 8: 35,482,682 K41R possibly damaging Het
Eri1 C A 8: 35,482,646 G53V probably benign Het
Gm10212 A G 19: 11,569,560 noncoding transcript Het
Gm11168 T G 9: 3,005,124 F201C probably damaging Het
Gm14412 A C 2: 177,315,686 S139A probably benign Het
Gm21411 C T 4: 146,892,610 S69N possibly damaging Het
Gm21671 A C 5: 25,954,224 W41G probably benign Het
Gm21738 A G 14: 19,418,885 C16R probably benign Het
Gm21967 T A 13: 119,609,535 probably benign Het
Gm4952 A T 19: 12,623,623 D69V probably damaging Het
Gm5591 T G 7: 38,520,414 K345T probably benign Het
Gm7647 T C 5: 94,962,980 S7P probably benign Het
Gm9733 C T 3: 15,332,145 probably null Het
Gm9758 G A 5: 14,913,508 probably benign Het
Gtse1 C A 15: 85,868,817 Q378K possibly damaging Het
Haus3 T C 5: 34,166,346 K307E probably benign Het
Hjurp A G 1: 88,270,269 L96S probably benign Het
Ifi205 T A 1: 174,027,333 probably benign Het
Ighg1 A G 12: 113,329,184 V255A unknown Het
Ighv14-4 T A 12: 114,176,632 M49L probably benign Het
Jak1 A C 4: 101,171,357 L508R probably damaging Het
Kif18a A G 2: 109,334,422 Q821R probably benign Het
Kif21b T C 1: 136,152,342 S539P possibly damaging Het
Klhdc2 T C 12: 69,307,213 V266A probably benign Het
Lonp2 G T 8: 86,641,533 probably benign Het
Mpdz C T 4: 81,303,584 probably benign Het
Mroh2a G A 1: 88,230,746 E172K probably damaging Het
Mroh2a G T 1: 88,244,970 M823I probably benign Het
Mroh2a G A 1: 88,234,120 G309D possibly damaging Het
Mtif3 C A 5: 146,959,104 G58* probably null Het
Muc4 G T 16: 32,753,848 K1241N probably benign Het
Muc4 G A 16: 32,753,849 G1242R probably benign Het
Muc4 C T 16: 32,755,805 probably benign Het
Muc4 C T 16: 32,753,823 P1233L probably benign Het
Muc4 C A 16: 32,753,955 T1277K possibly damaging Het
Muc4 A G 16: 32,754,071 R1316G probably benign Het
Muc4 T G 16: 32,753,863 N1246K probably benign Het
Muc4 A T 16: 32,753,886 E1254V probably benign Het
Muc4 C T 16: 32,752,569 P816S probably benign Het
Muc6 C T 7: 141,638,890 A1957T possibly damaging Het
Naca T A 10: 128,043,800 probably benign Het
Nars2 A T 7: 97,002,790 probably benign Het
Odf3l1 T C 9: 56,849,057 E225G probably benign Het
Olfr1445 G T 19: 12,883,901 V7L probably benign Het
Olfr342 A C 2: 36,527,993 I194L probably benign Het
Olfr549 G T 7: 102,554,891 L202F probably damaging Het
Olfr812 T C 10: 129,842,473 T190A probably damaging Het
Pcdh7 G A 5: 57,720,464 E454K possibly damaging Het
Pip5kl1 C A 2: 32,583,347 A332D probably benign Het
Pisd A T 5: 32,739,358 S280T probably benign Het
Pramel5 A G 4: 144,273,979 L9P probably damaging Het
Prkd3 G T 17: 78,954,523 N787K probably benign Het
Prkdc A T 16: 15,702,115 H1139L probably benign Het
R3hdm1 A G 1: 128,162,196 probably benign Het
Rbfox2 T C 15: 77,102,936 N206D probably damaging Het
Rlf T C 4: 121,148,339 E1258G possibly damaging Het
Rpl8 T C 15: 76,905,042 probably benign Het
Senp5 A C 16: 31,990,274 V27G probably benign Het
Serpina1b T A 12: 103,728,266 K406N probably damaging Het
Sfi1 G A 11: 3,134,337 A975V probably benign Het
Sfi1 T C 11: 3,143,689 probably benign Het
Sfi1 C T 11: 3,135,671 A853T probably damaging Het
Shc1 T C 3: 89,424,229 S154P probably damaging Het
Slc17a8 T C 10: 89,576,530 D531G probably benign Het
Slc4a10 A C 2: 62,286,940 T718P probably damaging Het
Slc7a11 C T 3: 50,379,069 R411Q probably damaging Het
Slitrk3 A G 3: 73,050,081 F453L probably damaging Het
Slk A C 19: 47,580,252 Q20P probably damaging Het
Smg5 T C 3: 88,343,038 probably null Het
Sp110 G A 1: 85,586,281 R252C possibly damaging Het
Sp140 C T 1: 85,626,165 R242C possibly damaging Het
Sp140 G A 1: 85,626,133 R231K probably benign Het
Speer4b G A 5: 27,501,274 P30S probably damaging Het
Stim1 T A 7: 102,426,747 H395Q probably damaging Het
Sult2a1 T C 7: 13,804,036 I187M probably benign Het
Thap1 G A 8: 26,162,731 D189N probably benign Het
Thap1 C T 8: 26,160,882 P37L possibly damaging Het
Thrap3 C T 4: 126,165,395 probably benign Het
Tmem132d C T 5: 127,784,832 V742I possibly damaging Het
Tmprss9 A G 10: 80,892,292 D572G possibly damaging Het
Tmtc1 T G 6: 148,443,944 T86P probably benign Het
Trip12 A T 1: 84,751,884 N1026K probably damaging Het
Ttll5 T A 12: 85,876,589 V280E probably damaging Het
Ubn2 T A 6: 38,482,605 D592E possibly damaging Het
Ubr1 T G 2: 120,930,872 H608P probably damaging Het
Ugt1a6b A T 1: 88,215,178 probably null Het
Vmn1r77 C A 7: 12,041,768 S89Y probably benign Het
Vmn1r77 A C 7: 12,041,476 I60L probably benign Het
Vmn2r114 G A 17: 23,290,965 A847V probably benign Het
Vmn2r114 A T 17: 23,291,238 L756Q probably damaging Het
Vmn2r114 G T 17: 23,290,983 S841Y probably benign Het
Vmn2r115 C T 17: 23,346,264 S375F probably benign Het
Vmn2r115 G A 17: 23,359,779 G742D probably damaging Het
Vmn2r115 T A 17: 23,359,824 L757Q probably damaging Het
Vmn2r115 G T 17: 23,348,034 G507* probably null Het
Vmn2r115 G A 17: 23,346,278 E380K probably benign Het
Vmn2r115 A G 17: 23,356,960 M511V probably benign Het
Vmn2r115 C T 17: 23,346,371 Q411* probably null Het
Vmn2r115 A G 17: 23,346,372 Q411R probably benign Het
Vmn2r115 C T 17: 23,359,397 P615S probably damaging Het
Vmn2r115 A G 17: 23,346,161 N341D probably benign Het
Vmn2r115 G T 17: 23,359,349 A599S probably benign Het
Vmn2r115 A C 17: 23,346,339 N400T probably damaging Het
Vmn2r115 C T 17: 23,346,176 P346S probably benign Het
Vmn2r115 A T 17: 23,346,206 M356L possibly damaging Het
Vmn2r116 C T 17: 23,397,727 P540S probably damaging Het
Vmn2r116 C T 17: 23,387,236 S374F probably benign Het
Vmn2r117 C T 17: 23,477,840 A198T probably damaging Het
Vmn2r117 T G 17: 23,475,429 K481N probably damaging Het
Vmn2r117 A C 17: 23,479,546 S18A probably benign Het
Vmn2r121 T G X: 124,127,802 K840N probably benign Het
Vmn2r121 T A X: 124,127,783 N847Y possibly damaging Het
Vmn2r121 C T X: 124,133,716 E73K probably benign Het
Vmn2r125 A C 4: 156,350,900 Q191P probably benign Het
Vmn2r125 C A 4: 156,350,899 Q191K probably benign Het
Vmn2r125 T C 4: 156,350,966 V213A probably benign Het
Vmn2r125 T C 4: 156,351,383 M352T probably benign Het
Vmn2r125 C T 4: 156,351,038 T237I probably benign Het
Vmn2r125 A T 4: 156,351,037 T237S probably benign Het
Vmn2r125 T A 4: 156,351,226 L300M probably benign Het
Vmn2r88 A G 14: 51,413,125 I98M probably benign Het
Vmn2r88 T C 14: 51,413,256 I142T probably benign Het
Vmn2r88 C T 14: 51,416,802 P539L possibly damaging Het
Vmn2r88 T C 14: 51,413,060 F77L probably benign Het
Vmn2r89 A C 14: 51,455,971 Q259H probably benign Het
Vmn2r89 T G 14: 51,457,493 L477V probably benign Het
Vmn2r-ps159 T C 4: 156,334,263 noncoding transcript Het
Vmn2r-ps159 C A 4: 156,338,435 noncoding transcript Het
Vmn2r-ps159 G T 4: 156,338,460 noncoding transcript Het
Vmn2r-ps159 T G 4: 156,334,562 noncoding transcript Het
Vmn2r-ps159 T G 4: 156,338,484 noncoding transcript Het
Vmn2r-ps159 G T 4: 156,334,397 noncoding transcript Het
Vmn2r-ps159 A T 4: 156,338,146 noncoding transcript Het
Zfp180 G A 7: 24,104,416 C85Y possibly damaging Het
Zfp180 C T 7: 24,104,830 R225C probably benign Het
Zfp180 G A 7: 24,104,995 V280M possibly damaging Het
Zfp982 G A 4: 147,512,369 C61Y probably benign Het
Other mutations in Skint5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Skint5 APN 4 113524135 intron probably benign
IGL01313:Skint5 APN 4 113805164 missense unknown
IGL01446:Skint5 APN 4 113942822 missense probably damaging 1.00
IGL01861:Skint5 APN 4 113559824 splice site probably benign
IGL01955:Skint5 APN 4 113623736 critical splice donor site probably null
IGL02150:Skint5 APN 4 113885791 missense unknown
IGL02190:Skint5 APN 4 113940765 missense possibly damaging 0.93
IGL02271:Skint5 APN 4 113937581 splice site probably null
IGL02426:Skint5 APN 4 113940784 missense probably benign 0.08
IGL02484:Skint5 APN 4 113942553 nonsense probably null
IGL02548:Skint5 APN 4 113731076 missense unknown
IGL02556:Skint5 APN 4 113940735 missense probably damaging 0.99
IGL02674:Skint5 APN 4 113630385 splice site probably benign
IGL02697:Skint5 APN 4 113479713 missense probably benign 0.23
IGL02710:Skint5 APN 4 113477959 missense unknown
IGL02721:Skint5 APN 4 113942549 missense probably damaging 0.96
IGL02750:Skint5 APN 4 113539362 missense unknown
IGL03121:Skint5 APN 4 113717087 missense unknown
IGL03167:Skint5 APN 4 113893850 missense unknown
IGL03247:Skint5 APN 4 113940808 missense probably damaging 1.00
IGL03264:Skint5 APN 4 113486657 missense unknown
IGL03281:Skint5 APN 4 113667218 missense unknown
IGL03353:Skint5 APN 4 113742182 missense unknown
IGL03377:Skint5 APN 4 113763538 missense unknown
PIT4377001:Skint5 UTSW 4 113597703 missense unknown
R0006:Skint5 UTSW 4 113893862 splice site probably benign
R0026:Skint5 UTSW 4 113546468 splice site probably benign
R0096:Skint5 UTSW 4 113597768 splice site probably benign
R0096:Skint5 UTSW 4 113597768 splice site probably benign
R0277:Skint5 UTSW 4 113937621 missense probably benign 0.04
R0323:Skint5 UTSW 4 113937621 missense probably benign 0.04
R0369:Skint5 UTSW 4 113512023 critical splice donor site probably null
R0375:Skint5 UTSW 4 113705596 missense unknown
R0464:Skint5 UTSW 4 113535731 missense unknown
R0479:Skint5 UTSW 4 113655672 missense unknown
R0507:Skint5 UTSW 4 113567930 splice site probably null
R0533:Skint5 UTSW 4 113827867 missense unknown
R0628:Skint5 UTSW 4 113731069 nonsense probably null
R0645:Skint5 UTSW 4 113763482 missense unknown
R1201:Skint5 UTSW 4 113556145 missense unknown
R1240:Skint5 UTSW 4 113717107 missense unknown
R1270:Skint5 UTSW 4 113942659 nonsense probably null
R1390:Skint5 UTSW 4 113655684 missense unknown
R1398:Skint5 UTSW 4 113779071 missense unknown
R1438:Skint5 UTSW 4 113556111 splice site probably benign
R1591:Skint5 UTSW 4 113999454 critical splice donor site probably null
R1631:Skint5 UTSW 4 113483926 missense probably benign 0.23
R1653:Skint5 UTSW 4 113490678 missense unknown
R1722:Skint5 UTSW 4 113846311 splice site probably null
R1735:Skint5 UTSW 4 113563459 missense unknown
R1765:Skint5 UTSW 4 113577661 missense unknown
R2054:Skint5 UTSW 4 113819163 critical splice donor site probably null
R2058:Skint5 UTSW 4 113870700 missense possibly damaging 0.53
R2197:Skint5 UTSW 4 113940849 missense probably damaging 1.00
R2239:Skint5 UTSW 4 113546536 missense unknown
R2380:Skint5 UTSW 4 113546536 missense unknown
R2406:Skint5 UTSW 4 113942667 missense probably damaging 0.97
R2512:Skint5 UTSW 4 113630419 missense unknown
R2913:Skint5 UTSW 4 113524092 intron probably benign
R3522:Skint5 UTSW 4 113756905 critical splice donor site probably null
R3779:Skint5 UTSW 4 113779040 splice site probably benign
R3815:Skint5 UTSW 4 113629122 splice site probably benign
R3815:Skint5 UTSW 4 113846299 missense possibly damaging 0.86
R3816:Skint5 UTSW 4 113629122 splice site probably benign
R3817:Skint5 UTSW 4 113629122 splice site probably benign
R3818:Skint5 UTSW 4 113629122 splice site probably benign
R3837:Skint5 UTSW 4 113940741 missense probably damaging 1.00
R3943:Skint5 UTSW 4 113942753 missense probably damaging 1.00
R3944:Skint5 UTSW 4 113942753 missense probably damaging 1.00
R4037:Skint5 UTSW 4 113885814 missense unknown
R4038:Skint5 UTSW 4 113885814 missense unknown
R4039:Skint5 UTSW 4 113885814 missense unknown
R4280:Skint5 UTSW 4 113942552 missense probably damaging 1.00
R4308:Skint5 UTSW 4 113483967 missense unknown
R4386:Skint5 UTSW 4 113483893 missense probably benign 0.23
R4513:Skint5 UTSW 4 113742185 missense unknown
R4575:Skint5 UTSW 4 113667193 missense unknown
R4631:Skint5 UTSW 4 113629117 critical splice acceptor site probably null
R4722:Skint5 UTSW 4 113893855 missense unknown
R4854:Skint5 UTSW 4 113580528 missense unknown
R5010:Skint5 UTSW 4 113546537 missense unknown
R5070:Skint5 UTSW 4 113795538 missense unknown
R5158:Skint5 UTSW 4 113742212 missense unknown
R5163:Skint5 UTSW 4 113795565 missense unknown
R5190:Skint5 UTSW 4 113763514 missense unknown
R5232:Skint5 UTSW 4 113577644 missense unknown
R5257:Skint5 UTSW 4 113577662 missense unknown
R5499:Skint5 UTSW 4 113942503 critical splice donor site probably null
R5569:Skint5 UTSW 4 113688706 critical splice acceptor site probably null
R5776:Skint5 UTSW 4 113763503 missense unknown
R5986:Skint5 UTSW 4 113995648 missense probably benign 0.11
R5987:Skint5 UTSW 4 113885808 missense unknown
R5995:Skint5 UTSW 4 113893832 missense unknown
R6063:Skint5 UTSW 4 113490645 missense probably benign 0.23
R6074:Skint5 UTSW 4 113805200 missense unknown
R6111:Skint5 UTSW 4 113705648 missense unknown
R6173:Skint5 UTSW 4 113535710 missense unknown
R6238:Skint5 UTSW 4 113942867 splice site probably null
R6248:Skint5 UTSW 4 113779089 missense unknown
R6318:Skint5 UTSW 4 113517133 missense unknown
R6370:Skint5 UTSW 4 113614110 missense unknown
R6404:Skint5 UTSW 4 113942609 missense probably damaging 0.97
R6499:Skint5 UTSW 4 113539355 missense unknown
R6646:Skint5 UTSW 4 113940777 missense possibly damaging 0.94
R6737:Skint5 UTSW 4 113535739 missense unknown
R6795:Skint5 UTSW 4 113667223 missense unknown
R6815:Skint5 UTSW 4 113717127 critical splice acceptor site probably null
R6935:Skint5 UTSW 4 113942596 missense possibly damaging 0.56
R7028:Skint5 UTSW 4 113940839 missense probably damaging 1.00
R7043:Skint5 UTSW 4 113717107 missense unknown
R7071:Skint5 UTSW 4 113779080 missense unknown
R7142:Skint5 UTSW 4 113571594 missense unknown
X0028:Skint5 UTSW 4 113691109 missense unknown
Posted On2015-04-16