Incidental Mutation 'IGL03352:Skint4'
ID419755
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Skint4
Ensembl Gene ENSMUSG00000055960
Gene Nameselection and upkeep of intraepithelial T cells 4
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL03352
Quality Score
Status
Chromosome4
Chromosomal Location112072016-112168076 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 112165686 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Cysteine at position 459 (W459C)
Ref Sequence ENSEMBL: ENSMUSP00000102176 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069769] [ENSMUST00000106564] [ENSMUST00000106565] [ENSMUST00000106566]
Predicted Effect possibly damaging
Transcript: ENSMUST00000069769
AA Change: W451C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000070676
Gene: ENSMUSG00000055960
AA Change: W451C

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
IG 33 140 7.24e-10 SMART
Pfam:C2-set_2 141 227 6.2e-8 PFAM
transmembrane domain 242 264 N/A INTRINSIC
transmembrane domain 296 318 N/A INTRINSIC
transmembrane domain 342 364 N/A INTRINSIC
transmembrane domain 383 405 N/A INTRINSIC
transmembrane domain 425 447 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106564
AA Change: W451C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102174
Gene: ENSMUSG00000055960
AA Change: W451C

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
IG 33 140 7.24e-10 SMART
Pfam:C2-set_2 141 227 6.2e-8 PFAM
transmembrane domain 242 264 N/A INTRINSIC
transmembrane domain 296 318 N/A INTRINSIC
transmembrane domain 342 364 N/A INTRINSIC
transmembrane domain 383 405 N/A INTRINSIC
transmembrane domain 425 447 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106565
AA Change: W451C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102175
Gene: ENSMUSG00000055960
AA Change: W451C

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
IG 33 140 7.24e-10 SMART
Pfam:C2-set_2 141 227 6.2e-8 PFAM
transmembrane domain 242 264 N/A INTRINSIC
transmembrane domain 296 318 N/A INTRINSIC
transmembrane domain 342 364 N/A INTRINSIC
transmembrane domain 383 405 N/A INTRINSIC
transmembrane domain 425 447 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106566
AA Change: W459C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102176
Gene: ENSMUSG00000055960
AA Change: W459C

DomainStartEndE-ValueType
IG 41 148 7.24e-10 SMART
transmembrane domain 250 272 N/A INTRINSIC
transmembrane domain 304 326 N/A INTRINSIC
transmembrane domain 350 372 N/A INTRINSIC
transmembrane domain 391 413 N/A INTRINSIC
transmembrane domain 433 455 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoah A G 13: 21,000,043 S426G probably benign Het
Arap3 T C 18: 37,981,302 probably benign Het
Arhgap45 T A 10: 80,030,751 N1029K probably damaging Het
Arhgef10l A T 4: 140,583,931 M1K probably null Het
Bloc1s6 T C 2: 122,742,718 L71P probably damaging Het
Ccer1 G T 10: 97,693,577 R34M unknown Het
Cd44 T C 2: 102,845,414 probably benign Het
Col17a1 T C 19: 47,681,375 probably null Het
Cspp1 A G 1: 10,047,437 E38G possibly damaging Het
Dock10 A T 1: 80,606,296 probably benign Het
Dsg3 A T 18: 20,527,632 M343L probably benign Het
Eif3l G A 15: 79,077,051 probably benign Het
Fcrl1 T C 3: 87,385,091 L150P probably benign Het
Flg2 T G 3: 93,202,494 S610A unknown Het
Grin3b C T 10: 79,973,781 R374C probably damaging Het
H2-Oa A T 17: 34,094,403 I143F probably damaging Het
Itgae C T 11: 73,131,730 P924S probably damaging Het
Itpr2 T A 6: 146,157,104 D2521V probably damaging Het
Laptm4a G A 12: 8,931,719 G143D probably benign Het
Lrp6 T C 6: 134,479,763 Y846C probably damaging Het
Mcm10 A T 2: 4,994,596 S749T probably damaging Het
Nemf T C 12: 69,331,905 N548D probably damaging Het
Nlrp4e T A 7: 23,320,826 L246Q probably damaging Het
Nsun6 A T 2: 14,996,346 C466* probably null Het
Olfm2 T C 9: 20,668,723 D252G probably damaging Het
Olfr112 T A 17: 37,563,790 I174F probably damaging Het
Olfr1499 T C 19: 13,814,928 I221V probably damaging Het
Olfr16 A C 1: 172,957,283 M163L probably benign Het
Olfr91 G A 17: 37,093,419 L152F probably benign Het
Pcdhb14 C T 18: 37,449,004 R388C possibly damaging Het
Piwil1 C T 5: 128,751,072 T712I probably benign Het
Piwil4 G T 9: 14,725,887 T377K probably damaging Het
Prg3 T C 2: 84,993,026 F182L probably damaging Het
Ptgds T C 2: 25,469,610 T22A probably benign Het
Retsat T C 6: 72,598,683 V19A probably damaging Het
Rpl21-ps4 A T 14: 11,227,760 noncoding transcript Het
Sh3glb2 A G 2: 30,345,351 V370A probably damaging Het
Slco1a1 T A 6: 141,911,885 R573S probably benign Het
Smgc T C 15: 91,860,678 S694P probably damaging Het
Spaca6 A G 17: 17,838,139 Y7C probably damaging Het
Spn T C 7: 127,137,006 T110A probably benign Het
Ssfa2 T A 2: 79,645,101 M468K probably damaging Het
Tepsin C T 11: 120,091,877 V456I probably benign Het
Tex261 C T 6: 83,771,267 R171Q possibly damaging Het
Tmem184a A T 5: 139,813,000 F65I probably damaging Het
Tpm3 G A 3: 90,087,745 probably null Het
Tubgcp2 T A 7: 140,001,027 H671L probably benign Het
Unc13b T G 4: 43,237,110 D3393E possibly damaging Het
Vcan T A 13: 89,705,006 M612L probably benign Het
Vmn1r180 C A 7: 23,952,652 S80* probably null Het
Vmn1r64 C T 7: 5,884,071 V158I probably benign Het
Vps13d C T 4: 145,167,502 V496I possibly damaging Het
Wee2 T G 6: 40,452,655 probably null Het
Zfp804b T C 5: 6,770,039 N972S probably benign Het
Other mutations in Skint4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01397:Skint4 APN 4 112120010 missense possibly damaging 0.86
IGL01654:Skint4 APN 4 112120057 missense probably damaging 0.99
IGL02040:Skint4 APN 4 112146482 splice site probably benign
IGL02328:Skint4 APN 4 112120058 missense possibly damaging 0.92
IGL02811:Skint4 APN 4 112087003 missense possibly damaging 0.86
IGL02965:Skint4 APN 4 112136021 missense probably benign 0.01
IGL03039:Skint4 APN 4 112124650 missense probably benign 0.20
IGL03060:Skint4 APN 4 112118235 missense probably benign 0.33
IGL03075:Skint4 APN 4 112087042 missense probably damaging 1.00
PIT4378001:Skint4 UTSW 4 112087035 missense probably benign 0.01
R0483:Skint4 UTSW 4 112117939 splice site probably benign
R1175:Skint4 UTSW 4 112124596 missense probably benign 0.14
R1446:Skint4 UTSW 4 112118114 missense probably benign 0.11
R1641:Skint4 UTSW 4 112136043 missense possibly damaging 0.93
R1983:Skint4 UTSW 4 112146492 missense probably benign 0.00
R2168:Skint4 UTSW 4 112086986 critical splice acceptor site probably null
R2272:Skint4 UTSW 4 112119868 missense probably benign 0.01
R2287:Skint4 UTSW 4 112118205 missense possibly damaging 0.70
R3801:Skint4 UTSW 4 112118181 missense probably damaging 0.98
R3802:Skint4 UTSW 4 112118181 missense probably damaging 0.98
R3804:Skint4 UTSW 4 112118181 missense probably damaging 0.98
R4009:Skint4 UTSW 4 112120109 missense possibly damaging 0.70
R4050:Skint4 UTSW 4 112124614 missense probably benign 0.01
R4564:Skint4 UTSW 4 112119869 missense probably damaging 0.99
R4581:Skint4 UTSW 4 112087042 missense probably damaging 1.00
R4587:Skint4 UTSW 4 112087024 missense probably damaging 0.99
R4674:Skint4 UTSW 4 112118233 missense probably damaging 1.00
R4723:Skint4 UTSW 4 112118236 missense possibly damaging 0.70
R4753:Skint4 UTSW 4 112146531 missense probably benign 0.00
R4775:Skint4 UTSW 4 112136064 missense probably damaging 0.97
R4832:Skint4 UTSW 4 112143766 missense possibly damaging 0.49
R5299:Skint4 UTSW 4 112136006 missense possibly damaging 0.59
R6118:Skint4 UTSW 4 112119822 splice site probably null
R6433:Skint4 UTSW 4 112146510 missense probably benign 0.00
R6616:Skint4 UTSW 4 112118230 missense possibly damaging 0.70
R6698:Skint4 UTSW 4 112119899 missense probably damaging 1.00
R6752:Skint4 UTSW 4 112119863 missense possibly damaging 0.89
R7034:Skint4 UTSW 4 112158084 missense possibly damaging 0.53
R7102:Skint4 UTSW 4 112118101 missense probably damaging 1.00
R7602:Skint4 UTSW 4 112118271 missense possibly damaging 0.50
R8027:Skint4 UTSW 4 112157985 critical splice acceptor site probably null
R8038:Skint4 UTSW 4 112119806 intron probably benign
R8147:Skint4 UTSW 4 112136021 missense probably benign 0.06
R8375:Skint4 UTSW 4 112117976 missense probably damaging 0.98
R8682:Skint4 UTSW 4 112136040 missense possibly damaging 0.86
R8695:Skint4 UTSW 4 112118067 missense probably damaging 1.00
Posted On2016-08-02