Incidental Mutation 'R0747:Skint3'
ID70177
Institutional Source Beutler Lab
Gene Symbol Skint3
Ensembl Gene ENSMUSG00000070868
Gene Nameselection and upkeep of intraepithelial T cells 3
Synonyms
MMRRC Submission 038928-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #R0747 (G1)
Quality Score225
Status Validated
Chromosome4
Chromosomal Location112232245-112300468 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 112253905 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 76 (Y76N)
Ref Sequence ENSEMBL: ENSMUSP00000131300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038455] [ENSMUST00000170945]
Predicted Effect probably damaging
Transcript: ENSMUST00000038455
AA Change: Y76N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042662
Gene: ENSMUSG00000070868
AA Change: Y76N

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 34 141 3.51e-8 SMART
transmembrane domain 248 270 N/A INTRINSIC
transmembrane domain 291 313 N/A INTRINSIC
transmembrane domain 328 350 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000170945
AA Change: Y76N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131300
Gene: ENSMUSG00000070868
AA Change: Y76N

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 34 141 3.51e-8 SMART
transmembrane domain 243 265 N/A INTRINSIC
transmembrane domain 285 304 N/A INTRINSIC
transmembrane domain 319 341 N/A INTRINSIC
transmembrane domain 362 384 N/A INTRINSIC
transmembrane domain 404 426 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3830406C13Rik T A 14: 12,287,287 M16K probably benign Het
Adam19 A T 11: 46,118,495 probably null Het
Anks4b C T 7: 120,182,163 A139V probably damaging Het
Arf1 G A 11: 59,212,635 R149C probably benign Het
Axl A T 7: 25,764,059 C598S possibly damaging Het
B3gnt2 T C 11: 22,836,316 I291V possibly damaging Het
Ccdc158 T A 5: 92,633,297 H883L probably benign Het
Col6a3 A G 1: 90,802,653 S1644P probably damaging Het
Cspg4 T C 9: 56,890,280 S1343P probably damaging Het
D430041D05Rik G T 2: 104,230,306 H1414Q probably damaging Het
Dnah5 C G 15: 28,444,186 I4043M probably damaging Het
Dnah5 T A 15: 28,444,187 C4044S possibly damaging Het
Dpep3 C T 8: 105,977,386 A267T probably benign Het
Dync1h1 A C 12: 110,612,411 H106P probably benign Het
Dync1h1 A C 12: 110,629,284 E1466A probably damaging Het
Fggy T C 4: 95,812,100 probably benign Het
Frmd6 A G 12: 70,864,056 T5A probably benign Het
Gnb5 G A 9: 75,311,470 V26I probably benign Het
Hephl1 A T 9: 15,054,001 probably benign Het
Hmmr C T 11: 40,721,745 probably benign Het
Hpn A T 7: 31,099,546 F356Y probably damaging Het
Iqgap3 T C 3: 88,107,503 probably benign Het
Ism2 A G 12: 87,285,398 probably benign Het
Kansl1 T A 11: 104,342,976 M754L probably benign Het
Kcnc4 A T 3: 107,448,154 I326N probably damaging Het
Lcn6 G A 2: 25,677,172 V62M probably damaging Het
Lrp1b A T 2: 40,870,341 C2858S probably damaging Het
Lyn G A 4: 3,745,638 probably benign Het
Mov10 T A 3: 104,802,496 H358L probably benign Het
Notch1 A G 2: 26,472,140 V60A unknown Het
Olfr720 C T 14: 14,175,429 A218T probably benign Het
Pgap2 C A 7: 102,237,136 Y176* probably null Het
Pglyrp1 A G 7: 18,890,275 Q161R possibly damaging Het
Plod3 A G 5: 136,988,195 N66S probably benign Het
Psmc3 A G 2: 91,054,300 E18G probably benign Het
Psme3 T G 11: 101,317,046 M9R probably benign Het
Rapgef4 A G 2: 72,223,073 N428S possibly damaging Het
Rbp3 A G 14: 33,956,278 I728V possibly damaging Het
Sall4 A T 2: 168,754,966 H651Q probably damaging Het
Slc13a4 T C 6: 35,278,328 T342A probably damaging Het
Slc25a1 G T 16: 17,926,220 T239K probably damaging Het
Slc36a2 T A 11: 55,169,859 I242F probably benign Het
Tekt2 G A 4: 126,323,760 Q171* probably null Het
Tet2 T G 3: 133,467,470 H1677P possibly damaging Het
Trappc9 G A 15: 73,025,967 R377W probably damaging Het
Trcg1 C T 9: 57,241,921 P259S probably benign Het
Ttn A C 2: 76,710,598 S25688A probably damaging Het
Vmn2r117 T A 17: 23,475,503 R457* probably null Het
Zbbx C T 3: 75,155,427 V8I probably damaging Het
Other mutations in Skint3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Skint3 APN 4 112255909 splice site probably benign
IGL01344:Skint3 APN 4 112290322 missense possibly damaging 0.53
IGL02875:Skint3 APN 4 112255882 missense possibly damaging 0.88
IGL03308:Skint3 APN 4 112254067 missense probably damaging 1.00
IGL03372:Skint3 APN 4 112255906 splice site probably benign
R0043:Skint3 UTSW 4 112277623 missense probably damaging 0.98
R0671:Skint3 UTSW 4 112255777 nonsense probably null
R1191:Skint3 UTSW 4 112235742 start codon destroyed probably null 0.95
R2058:Skint3 UTSW 4 112255783 nonsense probably null
R3819:Skint3 UTSW 4 112255888 missense possibly damaging 0.68
R3893:Skint3 UTSW 4 112253918 missense probably damaging 0.97
R4166:Skint3 UTSW 4 112255635 missense possibly damaging 0.89
R4449:Skint3 UTSW 4 112270009 missense possibly damaging 0.74
R4662:Skint3 UTSW 4 112277666 nonsense probably null
R4790:Skint3 UTSW 4 112255898 missense possibly damaging 0.49
R5374:Skint3 UTSW 4 112298189 missense possibly damaging 0.81
R5570:Skint3 UTSW 4 112235798 missense probably benign 0.08
R6024:Skint3 UTSW 4 112290346 missense possibly damaging 0.66
R6306:Skint3 UTSW 4 112255875 missense probably damaging 1.00
R6552:Skint3 UTSW 4 112290285 missense possibly damaging 0.95
R6619:Skint3 UTSW 4 112253864 missense probably damaging 1.00
R6972:Skint3 UTSW 4 112258892 missense probably damaging 0.98
Z1176:Skint3 UTSW 4 112253902 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCACTTAGCCATTTGTTGGGACAC -3'
(R):5'- TAGAATCCGTGCCTACCAGTGACC -3'

Sequencing Primer
(F):5'- GGGACACTTTAtgcttctgtatcag -3'
(R):5'- CAGTGACCTTGACCTCTGTGATATG -3'
Posted On2013-09-30