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 2510015P22Rik, cytokine-independent survival kinase, fy, Cisk, A330005P07Rik
Accession Numbers

Genbank: NM_133220; MGI: 2182368
Essential gene? Possibly non essential (E-score: 0.313) question?
Stock # IGL00229
Quality Score
Status
Chromosome 1
Chromosomal Location 9798107-9900845 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 9868384 bp (GRCm38)
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: ENSMUST00000188830
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189050
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
2010111I01Rik A G 13: 63,199,500 probably benign Het
9030624J02Rik T A 7: 118,804,191 probably benign Het
Abca4 A G 3: 122,170,954 T929A probably damaging Het
Adam6b G A 12: 113,491,393 R610H probably damaging Het
Adamts12 T A 15: 11,311,599 M1314K probably benign Het
Alg6 T A 4: 99,753,054 F152I probably damaging Het
Arid5b A G 10: 68,128,975 S289P probably damaging Het
Axin1 T C 17: 26,194,072 F780L probably damaging Het
C87499 A G 4: 88,629,053 I214T probably damaging Het
C9 C T 15: 6,483,231 S278L possibly damaging Het
Calr4 A T 4: 109,244,115 I65F probably damaging Het
Cdh23 A G 10: 60,523,548 V260A probably benign Het
Ddx25 T C 9: 35,543,595 probably benign Het
Dppa4 A G 16: 48,291,083 T92A possibly damaging Het
Ercc5 T C 1: 44,163,898 Y232H probably damaging Het
Exoc4 A G 6: 33,918,399 probably null Het
Fam149a A G 8: 45,351,786 V253A probably damaging Het
Fam209 C T 2: 172,474,182 T159I probably damaging Het
Gcfc2 A T 6: 81,936,015 N265I probably damaging Het
Glud1 T C 14: 34,336,130 V366A probably benign Het
Hdac10 T C 15: 89,128,442 T3A probably damaging Het
Ifnar1 T C 16: 91,489,782 S54P probably damaging Het
Itpr2 T C 6: 146,144,185 Y2561C probably damaging Het
Klhl30 A G 1: 91,354,157 E160G possibly damaging Het
Kmt2d A T 15: 98,862,333 S1015T unknown Het
Lactb2 A G 1: 13,660,374 M26T probably damaging Het
Lactbl1 A T 4: 136,631,051 D111V probably damaging Het
Lig4 T C 8: 9,972,775 Y335C probably damaging Het
Lrrc8e T A 8: 4,235,921 D715E probably benign Het
Med6 A T 12: 81,579,574 V142D possibly damaging Het
Men1 G A 19: 6,337,207 probably null Het
Mettl13 A G 1: 162,535,865 V600A possibly damaging Het
Mpdz A T 4: 81,310,224 C1314* probably null Het
Nbeal2 A G 9: 110,635,869 V1009A probably damaging Het
Nmur2 A G 11: 56,040,777 L36P probably damaging Het
Nudt2 T A 4: 41,480,474 L119Q probably damaging Het
Olfr1472 T C 19: 13,453,840 M226V possibly damaging Het
Osbpl3 C T 6: 50,323,068 E519K probably damaging Het
Pak6 A T 2: 118,689,845 T106S possibly damaging Het
Pggt1b T G 18: 46,280,719 Q34P probably benign Het
Phactr4 T C 4: 132,370,992 T322A possibly damaging Het
Plekhj1 T C 10: 80,796,602 probably null Het
Pnpt1 T C 11: 29,154,217 probably null Het
Prr14l T C 5: 32,830,676 I492V probably benign Het
Ranbp2 C A 10: 58,477,256 A1266E probably damaging Het
Riok3 G A 18: 12,137,020 D140N probably damaging Het
Rsph4a G A 10: 33,914,343 E643K probably damaging Het
Scara3 T G 14: 65,933,121 E103A probably benign Het
Slc38a4 A G 15: 96,999,494 F480S probably damaging Het
Slc44a1 G A 4: 53,543,571 V372M probably damaging Het
Slc9a2 A G 1: 40,767,737 Y728C probably benign Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Spidr A T 16: 15,895,578 L847Q probably damaging Het
Sptb A G 12: 76,620,753 S857P probably benign Het
Syde1 A G 10: 78,585,809 V636A probably damaging Het
Syna A G 5: 134,559,717 L126P possibly damaging Het
Taar2 A G 10: 23,941,368 T269A possibly damaging Het
Tapbp C T 17: 33,925,704 T258I probably damaging Het
Tcf20 T A 15: 82,857,142 Q36L possibly damaging Het
Tmem131l A T 3: 83,942,500 M260K probably damaging Het
Tnc T A 4: 64,016,824 probably benign Het
Ugp2 T A 11: 21,354,345 E27D probably benign Het
Wdr27 A T 17: 14,928,310 C140* probably null Het
Wnt2b T C 3: 104,953,133 T153A possibly damaging Het
Xirp2 A T 2: 67,513,375 T1987S probably benign Het
Zfp36l1 C A 12: 80,110,464 G48C probably damaging Het
Zfp474 A T 18: 52,638,493 I73F possibly damaging Het
Zfp790 T A 7: 29,828,563 F224L probably benign Het
Other mutations in Sgk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00906:Sgk3 APN 1 9877245 missense probably benign 0.00
IGL01683:Sgk3 APN 1 9881866 missense probably damaging 1.00
IGL02803:Sgk3 APN 1 9879048 missense possibly damaging 0.76
woolly UTSW 1 9886104 missense probably damaging 1.00
R0034:Sgk3 UTSW 1 9885677 missense probably damaging 1.00
R0034:Sgk3 UTSW 1 9885677 missense probably damaging 1.00
R0374:Sgk3 UTSW 1 9879081 splice site probably null
R0526:Sgk3 UTSW 1 9881579 missense probably damaging 1.00
R1483:Sgk3 UTSW 1 9872293 missense possibly damaging 0.80
R1992:Sgk3 UTSW 1 9880342 missense possibly damaging 0.52
R2073:Sgk3 UTSW 1 9891424 missense probably benign 0.01
R4590:Sgk3 UTSW 1 9898795 missense possibly damaging 0.94
R5436:Sgk3 UTSW 1 9881872 missense probably damaging 1.00
R5511:Sgk3 UTSW 1 9898686 intron probably benign
R5623:Sgk3 UTSW 1 9802295 intron probably benign
R5936:Sgk3 UTSW 1 9885820 intron probably benign
R6778:Sgk3 UTSW 1 9886144 critical splice donor site probably null
R6842:Sgk3 UTSW 1 9898754 missense probably benign
R7055:Sgk3 UTSW 1 9886059 missense probably damaging 1.00
R7186:Sgk3 UTSW 1 9886002 missense probably benign 0.00
R7336:Sgk3 UTSW 1 9884476 missense possibly damaging 0.88
R7429:Sgk3 UTSW 1 9872258 missense probably benign 0.00
R7430:Sgk3 UTSW 1 9872258 missense probably benign 0.00
R7787:Sgk3 UTSW 1 9881791 missense probably damaging 1.00
R8949:Sgk3 UTSW 1 9868474 splice site probably benign
R9269:Sgk3 UTSW 1 9872309 missense probably benign 0.41
R9487:Sgk3 UTSW 1 9880391 critical splice donor site probably null
Posted On 2011-12-09