Incidental Mutation 'IGL02563:Ksr1'
ID298720
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ksr1
Ensembl Gene ENSMUSG00000018334
Gene Namekinase suppressor of ras 1
SynonymsD11Bhm183e, B-KSR1, D11Bhm184e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.131) question?
Stock #IGL02563
Quality Score
Status
Chromosome11
Chromosomal Location79013440-79146407 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 79044858 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 234 (V234I)
Ref Sequence ENSEMBL: ENSMUSP00000146527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018478] [ENSMUST00000108264] [ENSMUST00000129463] [ENSMUST00000141409] [ENSMUST00000208969] [ENSMUST00000226282]
Predicted Effect probably benign
Transcript: ENSMUST00000018478
AA Change: V309I

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000018478
Gene: ENSMUSG00000018334
AA Change: V309I

DomainStartEndE-ValueType
low complexity region 8 31 N/A INTRINSIC
Pfam:KSR1-SAM 39 166 2.7e-41 PFAM
low complexity region 271 278 N/A INTRINSIC
C1 334 377 5.48e-8 SMART
low complexity region 429 464 N/A INTRINSIC
low complexity region 519 530 N/A INTRINSIC
Pfam:Pkinase_Tyr 563 827 2.3e-48 PFAM
Pfam:Pkinase 563 828 1.5e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108264
AA Change: V309I

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000103899
Gene: ENSMUSG00000018334
AA Change: V309I

DomainStartEndE-ValueType
low complexity region 8 31 N/A INTRINSIC
Pfam:KSR1-SAM 39 166 8.9e-51 PFAM
low complexity region 271 278 N/A INTRINSIC
C1 334 377 5.48e-8 SMART
low complexity region 429 464 N/A INTRINSIC
low complexity region 519 530 N/A INTRINSIC
Pfam:Pkinase 563 637 1e-6 PFAM
Pfam:Pkinase_Tyr 563 637 2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129463
SMART Domains Protein: ENSMUSP00000114538
Gene: ENSMUSG00000018334

DomainStartEndE-ValueType
Pfam:KSR1-SAM 1 46 5.9e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141409
SMART Domains Protein: ENSMUSP00000116407
Gene: ENSMUSG00000018334

DomainStartEndE-ValueType
Pfam:KSR1-SAM 35 84 1.6e-12 PFAM
low complexity region 189 196 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000208969
AA Change: V234I

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000226282
AA Change: V227I

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutant mice exhibit disorganized hair follicles and a decreased susceptibility to papilloma formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik A T 2: 35,380,398 V97E probably damaging Het
9530053A07Rik G A 7: 28,157,892 E2222K probably benign Het
Abhd16a C T 17: 35,101,245 T362M probably damaging Het
Adam23 T G 1: 63,567,977 probably benign Het
Apeh C A 9: 108,093,709 R87L possibly damaging Het
Arid3a T A 10: 79,950,883 M490K probably damaging Het
Atp6v1b1 T A 6: 83,755,451 V251D probably benign Het
Cog8 C T 8: 107,056,423 R78Q possibly damaging Het
Cyld T C 8: 88,735,894 I701T probably damaging Het
Dmgdh A G 13: 93,674,539 probably benign Het
Dnm1 T C 2: 32,315,919 probably null Het
Dopey2 T A 16: 93,777,405 V2D probably damaging Het
Dusp22 A T 13: 30,705,645 S70C possibly damaging Het
Dync2h1 T C 9: 7,035,700 Q3415R possibly damaging Het
Dysf T C 6: 84,186,516 probably benign Het
Fam114a1 G A 5: 65,006,148 probably null Het
Fam20a T A 11: 109,677,794 Q302L possibly damaging Het
Fancm T A 12: 65,092,462 L374H probably damaging Het
Fgf17 G A 14: 70,636,738 Q204* probably null Het
Gap43 T C 16: 42,292,132 T89A probably benign Het
Gm5069 A G 1: 180,327,899 probably benign Het
Gm9913 C T 2: 125,506,334 probably benign Het
Gpr174 T C X: 107,293,248 L222P probably benign Het
Grid2 A T 6: 64,345,873 Q619L possibly damaging Het
Hoxc13 A G 15: 102,921,798 D204G possibly damaging Het
Itgav T C 2: 83,771,236 V317A probably benign Het
Keg1 A T 19: 12,719,157 N288I probably damaging Het
Lrp1 T A 10: 127,551,686 D3365V probably damaging Het
Luc7l3 A T 11: 94,300,068 probably null Het
Mta2 T C 19: 8,948,051 I348T probably benign Het
Nphp4 A G 4: 152,556,220 I1015V probably benign Het
Nup214 C T 2: 31,977,860 S113F probably damaging Het
Olfr1303 T C 2: 111,813,817 K303R probably benign Het
Pabpn1l T A 8: 122,620,383 T228S probably damaging Het
Paxx T C 2: 25,459,662 *206W probably null Het
Pcdhb10 A G 18: 37,413,073 T401A probably benign Het
Ppp1r3a A C 6: 14,719,762 D384E probably benign Het
Rif1 T C 2: 52,077,065 V122A probably damaging Het
Scn4b T C 9: 45,146,682 L24P probably damaging Het
Sec22c T C 9: 121,684,650 probably benign Het
Sh3rf2 A G 18: 42,156,142 D676G probably damaging Het
Slc20a1 A G 2: 129,207,684 T289A probably benign Het
Tekt2 T C 4: 126,324,625 D84G possibly damaging Het
Tgfbr2 T A 9: 116,129,998 N116I probably benign Het
Tmem196 A G 12: 119,946,474 M1V probably null Het
Tnn A G 1: 160,114,553 V1125A probably damaging Het
Vmn2r51 A T 7: 10,100,316 M265K probably benign Het
Zfp319 T C 8: 95,323,734 probably benign Het
Zfp65 A T 13: 67,708,065 V365E possibly damaging Het
Zp3 T A 5: 135,987,610 probably null Het
Other mutations in Ksr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:Ksr1 APN 11 79027517 missense probably damaging 1.00
IGL01304:Ksr1 APN 11 79027642 missense probably damaging 1.00
IGL01482:Ksr1 APN 11 79036583 missense probably damaging 1.00
IGL01928:Ksr1 APN 11 79044839 splice site probably null
IGL02025:Ksr1 APN 11 79021450 unclassified probably null
IGL02176:Ksr1 APN 11 79020791 missense probably benign 0.00
IGL02374:Ksr1 APN 11 79028491 missense probably benign 0.02
IGL02511:Ksr1 APN 11 79045220 missense possibly damaging 0.55
IGL02662:Ksr1 APN 11 79036725 missense probably damaging 1.00
IGL02823:Ksr1 APN 11 79021403 missense probably benign 0.35
IGL02879:Ksr1 APN 11 79074444 missense probably damaging 1.00
julius UTSW 11 79036494 critical splice donor site probably null
R0096:Ksr1 UTSW 11 79038247 splice site probably benign
R0096:Ksr1 UTSW 11 79038247 splice site probably benign
R0364:Ksr1 UTSW 11 79029025 splice site probably benign
R0479:Ksr1 UTSW 11 79025283 missense probably damaging 1.00
R0590:Ksr1 UTSW 11 79045140 missense probably damaging 1.00
R0711:Ksr1 UTSW 11 79038247 splice site probably benign
R0743:Ksr1 UTSW 11 79021503 missense possibly damaging 0.79
R0884:Ksr1 UTSW 11 79021503 missense possibly damaging 0.79
R1272:Ksr1 UTSW 11 79146078 nonsense probably null
R1739:Ksr1 UTSW 11 79047305 missense probably damaging 1.00
R1885:Ksr1 UTSW 11 79020378 missense probably null
R1885:Ksr1 UTSW 11 79036521 missense probably damaging 1.00
R1886:Ksr1 UTSW 11 79020378 missense probably null
R2118:Ksr1 UTSW 11 79045193 missense probably benign 0.10
R2127:Ksr1 UTSW 11 79033313 missense probably damaging 1.00
R2939:Ksr1 UTSW 11 79045181 unclassified probably null
R4090:Ksr1 UTSW 11 79027477 missense probably damaging 1.00
R4675:Ksr1 UTSW 11 79074360 missense possibly damaging 0.81
R4854:Ksr1 UTSW 11 79027702 missense probably damaging 1.00
R5267:Ksr1 UTSW 11 79020425 missense probably damaging 1.00
R5813:Ksr1 UTSW 11 79038198 missense probably damaging 1.00
R5928:Ksr1 UTSW 11 79059719 missense probably damaging 0.96
R6199:Ksr1 UTSW 11 79020441 missense possibly damaging 0.65
R6346:Ksr1 UTSW 11 79019664 missense possibly damaging 0.93
R6377:Ksr1 UTSW 11 79036494 critical splice donor site probably null
R6885:Ksr1 UTSW 11 79047295 critical splice donor site probably null
R7016:Ksr1 UTSW 11 79027536 missense probably damaging 1.00
U24488:Ksr1 UTSW 11 79047441 missense probably damaging 1.00
Z1088:Ksr1 UTSW 11 79044879 unclassified probably null
Posted On2015-04-16