Incidental Mutation 'IGL00229:Sgk3'
ID 2544
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sgk3
Ensembl Gene ENSMUSG00000025915
Gene Name serum/glucocorticoid regulated kinase 3
Synonyms cytokine-independent survival kinase, fy, A330005P07Rik, 2510015P22Rik, Cisk
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.327) question?
Stock # IGL00229
Quality Score
Status
Chromosome 1
Chromosomal Location 9868332-9971070 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 9938609 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 33 (V33A)
Ref Sequence ENSEMBL: ENSMUSP00000140318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097826] [ENSMUST00000166384] [ENSMUST00000168907] [ENSMUST00000171265] [ENSMUST00000188298] [ENSMUST00000188738] [ENSMUST00000188782]
AlphaFold Q9ERE3
Predicted Effect probably damaging
Transcript: ENSMUST00000097826
AA Change: V33A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095437
Gene: ENSMUSG00000025915
AA Change: V33A

DomainStartEndE-ValueType
PX 13 120 3.9e-19 SMART
S_TKc 162 419 1.07e-105 SMART
S_TK_X 420 489 1.96e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000166384
AA Change: V33A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130078
Gene: ENSMUSG00000025915
AA Change: V33A

DomainStartEndE-ValueType
PX 13 120 3.9e-19 SMART
S_TKc 162 419 1.07e-105 SMART
S_TK_X 420 489 1.96e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000168907
AA Change: V33A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126861
Gene: ENSMUSG00000025915
AA Change: V33A

DomainStartEndE-ValueType
PX 13 120 3.9e-19 SMART
S_TKc 162 419 1.07e-105 SMART
S_TK_X 420 489 1.96e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171265
AA Change: V33A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127462
Gene: ENSMUSG00000025915
AA Change: V33A

DomainStartEndE-ValueType
PX 13 120 3.9e-19 SMART
S_TKc 162 419 1.07e-105 SMART
S_TK_X 420 489 1.96e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000188298
AA Change: V33A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139942
Gene: ENSMUSG00000025915
AA Change: V33A

DomainStartEndE-ValueType
Pfam:PX 11 66 4.5e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000188738
AA Change: V33A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140496
Gene: ENSMUSG00000025915
AA Change: V33A

DomainStartEndE-ValueType
PX 13 120 2.4e-21 SMART
S_TKc 162 333 2.1e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000188782
AA Change: V33A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140318
Gene: ENSMUSG00000025915
AA Change: V33A

DomainStartEndE-ValueType
PX 13 120 2.4e-21 SMART
S_TKc 162 343 4.3e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188830
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mutations in this gene result in wavy vibrissae and coat/ hair abnormalities, including sparse and waved hair, due to impaired hair follicle development and/or hair cycle defects. [provided by MGI curators]
Allele List at MGI

All alleles(16) : Targeted, knock-out(2) Gene trapped(7) Spontaneous(7)

Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,964,603 (GRCm39) T929A probably damaging Het
Adam6b G A 12: 113,455,013 (GRCm39) R610H probably damaging Het
Adamts12 T A 15: 11,311,685 (GRCm39) M1314K probably benign Het
Alg6 T A 4: 99,641,291 (GRCm39) F152I probably damaging Het
Aopep A G 13: 63,347,314 (GRCm39) probably benign Het
Arid5b A G 10: 67,964,805 (GRCm39) S289P probably damaging Het
Axin1 T C 17: 26,413,046 (GRCm39) F780L probably damaging Het
C9 C T 15: 6,512,712 (GRCm39) S278L possibly damaging Het
Calr4 A T 4: 109,101,312 (GRCm39) I65F probably damaging Het
Cdh23 A G 10: 60,359,327 (GRCm39) V260A probably benign Het
Ddx25 T C 9: 35,454,891 (GRCm39) probably benign Het
Dppa4 A G 16: 48,111,446 (GRCm39) T92A possibly damaging Het
Ercc5 T C 1: 44,203,058 (GRCm39) Y232H probably damaging Het
Exoc4 A G 6: 33,895,334 (GRCm39) probably null Het
Fam149a A G 8: 45,804,823 (GRCm39) V253A probably damaging Het
Fam209 C T 2: 172,316,102 (GRCm39) T159I probably damaging Het
Gcfc2 A T 6: 81,912,996 (GRCm39) N265I probably damaging Het
Glud1 T C 14: 34,058,087 (GRCm39) V366A probably benign Het
Hdac10 T C 15: 89,012,645 (GRCm39) T3A probably damaging Het
Ifnar1 T C 16: 91,286,670 (GRCm39) S54P probably damaging Het
Itpr2 T C 6: 146,045,683 (GRCm39) Y2561C probably damaging Het
Klhl30 A G 1: 91,281,879 (GRCm39) E160G possibly damaging Het
Kmt2d A T 15: 98,760,214 (GRCm39) S1015T unknown Het
Lactb2 A G 1: 13,730,598 (GRCm39) M26T probably damaging Het
Lactbl1 A T 4: 136,358,362 (GRCm39) D111V probably damaging Het
Lig4 T C 8: 10,022,775 (GRCm39) Y335C probably damaging Het
Lrrc8e T A 8: 4,285,921 (GRCm39) D715E probably benign Het
Med6 A T 12: 81,626,348 (GRCm39) V142D possibly damaging Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Mettl13 A G 1: 162,363,434 (GRCm39) V600A possibly damaging Het
Mpdz A T 4: 81,228,461 (GRCm39) C1314* probably null Het
Nbeal2 A G 9: 110,464,937 (GRCm39) V1009A probably damaging Het
Nmur2 A G 11: 55,931,603 (GRCm39) L36P probably damaging Het
Nudt2 T A 4: 41,480,474 (GRCm39) L119Q probably damaging Het
Or5b117 T C 19: 13,431,204 (GRCm39) M226V possibly damaging Het
Osbpl3 C T 6: 50,300,048 (GRCm39) E519K probably damaging Het
Pak6 A T 2: 118,520,326 (GRCm39) T106S possibly damaging Het
Pggt1b T G 18: 46,413,786 (GRCm39) Q34P probably benign Het
Phactr4 T C 4: 132,098,303 (GRCm39) T322A possibly damaging Het
Plekhj1 T C 10: 80,632,436 (GRCm39) probably null Het
Pnpt1 T C 11: 29,104,217 (GRCm39) probably null Het
Pramel32 A G 4: 88,547,290 (GRCm39) I214T probably damaging Het
Prr14l T C 5: 32,988,020 (GRCm39) I492V probably benign Het
Ranbp2 C A 10: 58,313,078 (GRCm39) A1266E probably damaging Het
Riok3 G A 18: 12,270,077 (GRCm39) D140N probably damaging Het
Rsph4a G A 10: 33,790,339 (GRCm39) E643K probably damaging Het
Scara3 T G 14: 66,170,570 (GRCm39) E103A probably benign Het
Slc38a4 A G 15: 96,897,375 (GRCm39) F480S probably damaging Het
Slc44a1 G A 4: 53,543,571 (GRCm39) V372M probably damaging Het
Slc9a2 A G 1: 40,806,897 (GRCm39) Y728C probably benign Het
Sox4 C A 13: 29,136,956 (GRCm39) G17W probably damaging Het
Spidr A T 16: 15,713,442 (GRCm39) L847Q probably damaging Het
Sptb A G 12: 76,667,527 (GRCm39) S857P probably benign Het
Syde1 A G 10: 78,421,643 (GRCm39) V636A probably damaging Het
Syna A G 5: 134,588,571 (GRCm39) L126P possibly damaging Het
Taar2 A G 10: 23,817,266 (GRCm39) T269A possibly damaging Het
Tapbp C T 17: 34,144,678 (GRCm39) T258I probably damaging Het
Tcf20 T A 15: 82,741,343 (GRCm39) Q36L possibly damaging Het
Tmem131l A T 3: 83,849,807 (GRCm39) M260K probably damaging Het
Tnc T A 4: 63,935,061 (GRCm39) probably benign Het
Ugp2 T A 11: 21,304,345 (GRCm39) E27D probably benign Het
Vps35l T A 7: 118,403,414 (GRCm39) probably benign Het
Wdr27 A T 17: 15,148,572 (GRCm39) C140* probably null Het
Wnt2b T C 3: 104,860,449 (GRCm39) T153A possibly damaging Het
Xirp2 A T 2: 67,343,719 (GRCm39) T1987S probably benign Het
Zfp36l1 C A 12: 80,157,238 (GRCm39) G48C probably damaging Het
Zfp474 A T 18: 52,771,565 (GRCm39) I73F possibly damaging Het
Zfp790 T A 7: 29,527,988 (GRCm39) F224L probably benign Het
Other mutations in Sgk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00906:Sgk3 APN 1 9,947,470 (GRCm39) missense probably benign 0.00
IGL01683:Sgk3 APN 1 9,952,091 (GRCm39) missense probably damaging 1.00
IGL02803:Sgk3 APN 1 9,949,273 (GRCm39) missense possibly damaging 0.76
woolly UTSW 1 9,956,329 (GRCm39) missense probably damaging 1.00
R0034:Sgk3 UTSW 1 9,955,902 (GRCm39) missense probably damaging 1.00
R0034:Sgk3 UTSW 1 9,955,902 (GRCm39) missense probably damaging 1.00
R0374:Sgk3 UTSW 1 9,949,306 (GRCm39) splice site probably null
R0526:Sgk3 UTSW 1 9,951,804 (GRCm39) missense probably damaging 1.00
R1483:Sgk3 UTSW 1 9,942,518 (GRCm39) missense possibly damaging 0.80
R1992:Sgk3 UTSW 1 9,950,567 (GRCm39) missense possibly damaging 0.52
R2073:Sgk3 UTSW 1 9,961,649 (GRCm39) missense probably benign 0.01
R4590:Sgk3 UTSW 1 9,969,020 (GRCm39) missense possibly damaging 0.94
R5436:Sgk3 UTSW 1 9,952,097 (GRCm39) missense probably damaging 1.00
R5511:Sgk3 UTSW 1 9,968,911 (GRCm39) intron probably benign
R5623:Sgk3 UTSW 1 9,872,520 (GRCm39) intron probably benign
R5936:Sgk3 UTSW 1 9,956,045 (GRCm39) intron probably benign
R6778:Sgk3 UTSW 1 9,956,369 (GRCm39) critical splice donor site probably null
R6842:Sgk3 UTSW 1 9,968,979 (GRCm39) missense probably benign
R7055:Sgk3 UTSW 1 9,956,284 (GRCm39) missense probably damaging 1.00
R7186:Sgk3 UTSW 1 9,956,227 (GRCm39) missense probably benign 0.00
R7336:Sgk3 UTSW 1 9,954,701 (GRCm39) missense possibly damaging 0.88
R7429:Sgk3 UTSW 1 9,942,483 (GRCm39) missense probably benign 0.00
R7430:Sgk3 UTSW 1 9,942,483 (GRCm39) missense probably benign 0.00
R7787:Sgk3 UTSW 1 9,952,016 (GRCm39) missense probably damaging 1.00
R8949:Sgk3 UTSW 1 9,938,699 (GRCm39) splice site probably benign
R9269:Sgk3 UTSW 1 9,942,534 (GRCm39) missense probably benign 0.41
R9487:Sgk3 UTSW 1 9,950,616 (GRCm39) critical splice donor site probably null
Posted On 2011-12-09