Incidental Mutation 'IGL02662:Ksr1'
ID302581
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: 0.119) question?
Stock #IGL02662
Quality Score
Status
Chromosome11
Chromosomal Location79013440-79146407 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 79036725 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 289 (T289I)
Ref Sequence ENSEMBL: ENSMUSP00000154385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018478] [ENSMUST00000108264] [ENSMUST00000208969] [ENSMUST00000226282]
Predicted Effect probably damaging
Transcript: ENSMUST00000018478
AA Change: T371I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018478
Gene: ENSMUSG00000018334
AA Change: T371I

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 damaging
Transcript: ENSMUST00000108264
AA Change: T371I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103899
Gene: ENSMUSG00000018334
AA Change: T371I

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 damaging
Transcript: ENSMUST00000208969
AA Change: T296I

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000226282
AA Change: T289I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A G 15: 64,746,895 probably null Het
Ap5z1 G A 5: 142,476,889 probably null Het
Cdhr5 T G 7: 141,274,503 I120L possibly damaging Het
Chd5 C T 4: 152,372,131 S975F probably damaging Het
Cts3 G T 13: 61,568,057 Q132K probably damaging Het
Cylc2 T A 4: 51,216,698 probably benign Het
Defb39 A G 8: 19,052,875 V68A probably benign Het
Dgki A G 6: 36,862,486 probably benign Het
Dhtkd1 G A 2: 5,899,972 P867L probably damaging Het
Gata5 C T 2: 180,327,751 probably benign Het
Glt28d2 T A 3: 85,872,116 I17F probably damaging Het
Gm11397 A G 13: 33,404,530 N366S possibly damaging Het
Gstm2 T C 3: 107,985,062 Y82C possibly damaging Het
Hs6st1 T A 1: 36,103,812 L276* probably null Het
Iqgap1 T C 7: 80,743,079 D712G probably benign Het
Kdm4c T C 4: 74,404,821 S997P probably damaging Het
Lingo4 T C 3: 94,401,817 probably benign Het
Ncapd2 A G 6: 125,176,731 S674P probably damaging Het
Nek1 G A 8: 61,104,184 V841I probably benign Het
Olfr1104 T C 2: 87,022,002 T181A probably benign Het
Olfr514 T C 7: 108,825,745 T85A probably benign Het
Pigx A G 16: 32,087,383 V40A probably damaging Het
Pla2g2d T G 4: 138,778,695 M5R possibly damaging Het
Ppa2 G T 3: 133,367,883 R234I probably damaging Het
Rbms1 A C 2: 60,762,306 L221R probably damaging Het
Rnasel C A 1: 153,754,111 N124K probably damaging Het
Sigirr T A 7: 141,094,794 probably benign Het
Tas2r136 A T 6: 132,777,708 V152E probably damaging Het
Tlnrd1 C T 7: 83,882,819 V135M possibly damaging Het
Tlnrd1 A G 7: 83,882,536 L229S probably damaging Het
Top1mt A G 15: 75,668,705 V239A probably damaging Het
Tpd52 A T 3: 8,944,715 probably null Het
Trim16 T A 11: 62,840,557 L331Q possibly damaging Het
Ttll4 A G 1: 74,687,231 probably null Het
Vmn1r27 T A 6: 58,215,287 D244V probably damaging Het
Vmn2r72 A C 7: 85,738,183 D724E probably benign Het
Zfp563 T C 17: 33,102,279 W18R probably damaging Het
Zswim8 T C 14: 20,713,074 V347A probably benign 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
IGL02563:Ksr1 APN 11 79044858 missense possibly damaging 0.73
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