Incidental Mutation 'R5995:Skint5'
ID 481051
Institutional Source Beutler Lab
Gene Symbol Skint5
Ensembl Gene ENSMUSG00000078598
Gene Name selection and upkeep of intraepithelial T cells 5
Synonyms OTTMUSG00000008560
MMRRC Submission 044174-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R5995 (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 113751029 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 339 (I339F)
Ref Sequence ENSEMBL: ENSMUSP00000130639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169631] [ENSMUST00000170105] [ENSMUST00000171627]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000169631
AA Change: I353F
SMART Domains Protein: ENSMUSP00000132470
Gene: ENSMUSG00000078598
AA Change: I353F

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: I353F
SMART Domains Protein: ENSMUSP00000129582
Gene: ENSMUSG00000078598
AA Change: I353F

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 unknown
Transcript: ENSMUST00000171627
AA Change: I339F
SMART Domains Protein: ENSMUSP00000130639
Gene: ENSMUSG00000078598
AA Change: I339F

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
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.7%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 C T 5: 24,605,137 (GRCm39) R108C possibly damaging Het
Adgrb2 C A 4: 129,910,896 (GRCm39) A1104E probably damaging Het
Adgrv1 A G 13: 81,614,378 (GRCm39) V4005A probably benign Het
Bend6 T C 1: 33,917,520 (GRCm39) probably null Het
Brwd1 A T 16: 95,865,987 (GRCm39) V265E probably damaging Het
Ccdc96 A G 5: 36,643,718 (GRCm39) I575V probably damaging Het
Cd109 A T 9: 78,607,561 (GRCm39) I1094L probably benign Het
Cd44 A G 2: 102,692,015 (GRCm39) V91A probably damaging Het
Cdv3 C G 9: 103,241,202 (GRCm39) G122R probably damaging Het
Ces2c T A 8: 105,577,533 (GRCm39) V272D possibly damaging Het
Colgalt1 T A 8: 72,075,754 (GRCm39) M467K probably damaging Het
Crtam G A 9: 40,905,836 (GRCm39) T31M possibly damaging Het
Cyp7a1 C T 4: 6,272,371 (GRCm39) V281M possibly damaging Het
Dnah7a A T 1: 53,659,829 (GRCm39) N726K probably benign Het
Dok6 T C 18: 89,439,142 (GRCm39) E232G possibly damaging Het
Gm12185 T C 11: 48,806,540 (GRCm39) E217G probably benign Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Gria1 A T 11: 57,180,111 (GRCm39) Y618F probably damaging Het
H2-T22 A G 17: 36,352,377 (GRCm39) Y183H probably benign Het
Hace1 A T 10: 45,546,487 (GRCm39) I374L probably benign Het
Hif3a T A 7: 16,787,694 (GRCm39) T132S probably benign Het
Hoxa3 T A 6: 52,147,263 (GRCm39) probably benign Het
Il27 A C 7: 126,188,535 (GRCm39) probably benign Het
Klhdc1 T C 12: 69,297,548 (GRCm39) Y40H probably damaging Het
Klhl33 T G 14: 51,130,108 (GRCm39) E462A possibly damaging Het
Myh10 T C 11: 68,705,809 (GRCm39) I1979T probably benign Het
Nfkbil1 G T 17: 35,439,774 (GRCm39) F246L probably benign Het
Nlrp1b A T 11: 71,072,572 (GRCm39) F424I probably damaging Het
Nod1 A G 6: 54,921,539 (GRCm39) Y260H probably damaging Het
Ofcc1 A G 13: 40,433,898 (GRCm39) L69P probably damaging Het
Onecut2 G T 18: 64,474,619 (GRCm39) R390L probably damaging Het
Oprm1 A C 10: 6,782,520 (GRCm39) M388L probably benign Het
Or10q3 A T 19: 11,848,226 (GRCm39) I118N possibly damaging Het
Or1e26 T C 11: 73,480,076 (GRCm39) I163V probably benign Het
Or1o3 C A 17: 37,574,539 (GRCm39) Q5H probably benign Het
Or5aq1 T C 2: 86,966,200 (GRCm39) N155S probably damaging Het
Or5b96 A C 19: 12,867,961 (GRCm39) probably null Het
Or8g53 A G 9: 39,683,988 (GRCm39) V36A probably benign Het
Pcdhgc5 T A 18: 37,954,113 (GRCm39) Y462* probably null Het
Pex1 T A 5: 3,657,704 (GRCm39) M425K possibly damaging Het
Plec A T 15: 76,070,105 (GRCm39) Y1001N probably damaging Het
Poglut3 T C 9: 53,307,195 (GRCm39) Y380H probably damaging Het
Pou2f2 T G 7: 24,796,869 (GRCm39) K236Q probably damaging Het
Rbm20 G A 19: 53,839,698 (GRCm39) E896K possibly damaging Het
Sh3tc2 T A 18: 62,123,081 (GRCm39) L614Q probably damaging Het
Slc2a7 T C 4: 150,252,797 (GRCm39) I479T probably damaging Het
Snrk A G 9: 121,986,288 (GRCm39) N219S probably damaging Het
Supt20 T C 3: 54,616,474 (GRCm39) S245P probably damaging Het
Ttn A G 2: 76,591,636 (GRCm39) I21011T probably damaging Het
Vmn2r11 T A 5: 109,194,921 (GRCm39) I802F probably damaging Het
Vmn2r92 T C 17: 18,389,213 (GRCm39) probably null Het
Ythdc2 T A 18: 45,019,320 (GRCm39) M1363K probably damaging Het
Zan T C 5: 137,377,071 (GRCm39) probably benign Het
Zfp521 C A 18: 13,850,681 (GRCm39) C1261F probably damaging Het
Zfp980 A T 4: 145,428,479 (GRCm39) K403* 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
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
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 PCR Primer
(F):5'- GGTGTTTGATCAAGAAGAGCTG -3'
(R):5'- AAGTCTACATTCCAGGTGTGTTTAT -3'

Sequencing Primer
(F):5'- ACATATTTCCTTGTACTACCAAACC -3'
(R):5'- TATGAGACAAGCACTACTGTTGGAC -3'
Posted On 2017-06-26