Incidental Mutation 'IGL02374:Ksr1'
ID291020
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: 0.204) question?
Stock #IGL02374
Quality Score
Status
Chromosome11
Chromosomal Location79013440-79146407 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 79028491 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 504 (G504D)
Ref Sequence ENSEMBL: ENSMUSP00000103899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018478] [ENSMUST00000108264] [ENSMUST00000208969] [ENSMUST00000226282]
Predicted Effect probably benign
Transcript: ENSMUST00000018478
AA Change: G504D

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000018478
Gene: ENSMUSG00000018334
AA Change: G504D

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: G504D

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000103899
Gene: ENSMUSG00000018334
AA Change: G504D

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 noncoding transcript
Transcript: ENSMUST00000143473
Predicted Effect probably benign
Transcript: ENSMUST00000208969
Predicted Effect probably benign
Transcript: ENSMUST00000226282
AA Change: G422D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl5b T C 2: 15,068,192 Y35H probably damaging Het
Ccdc144b T C 3: 36,019,959 Q347R possibly damaging Het
Cnksr3 A G 10: 7,120,335 S300P probably damaging Het
Col27a1 T C 4: 63,293,249 S1013P possibly damaging Het
Cyp39a1 A G 17: 43,749,981 probably benign Het
Deptor G T 15: 55,180,961 L174F probably damaging Het
Fah T C 7: 84,605,701 E8G probably benign Het
Fastk C A 5: 24,444,249 A47S possibly damaging Het
Foxl2 C T 9: 98,955,832 L58F probably damaging Het
Igf2bp2 G T 16: 22,081,868 H106Q probably benign Het
Igkv12-47 T C 6: 69,750,975 T71A probably benign Het
Ino80d T C 1: 63,086,061 I81V possibly damaging Het
Ints9 G A 14: 65,039,333 E650K probably benign Het
Klc2 T C 19: 5,110,410 N408S possibly damaging Het
Klhl32 A T 4: 24,743,856 probably null Het
Lonp2 C A 8: 86,709,045 D636E probably damaging Het
Lpin3 G A 2: 160,895,838 probably benign Het
Mcmdc2 C T 1: 9,911,982 A56V possibly damaging Het
Olfr1208 A T 2: 88,897,459 I46N probably damaging Het
Olfr129 A T 17: 38,055,521 V24D probably damaging Het
Pex1 T C 5: 3,635,481 I1163T probably benign Het
Ppp1r3a C T 6: 14,718,600 V772I probably damaging Het
Ptbp2 A T 3: 119,720,693 probably benign Het
Rell1 A T 5: 63,937,808 I105K possibly damaging Het
Sis A T 3: 72,925,456 S1003T probably benign Het
Slc26a3 T A 12: 31,470,833 probably benign Het
Stap1 G A 5: 86,096,551 G264R probably damaging Het
Tmem176b T C 6: 48,834,626 N30D possibly damaging Het
Tmprss15 A T 16: 79,035,168 Y367N probably benign Het
Ttc41 A G 10: 86,775,951 D1061G probably damaging Het
Ufl1 A C 4: 25,259,237 D460E probably benign Het
Vmn2r104 T C 17: 20,042,786 I138V probably benign Het
Wdfy2 T C 14: 62,934,384 S194P probably benign Het
Zfp408 A C 2: 91,645,811 C333G probably damaging Het
Zfp592 T C 7: 81,024,983 V565A probably damaging 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
IGL02511:Ksr1 APN 11 79045220 missense possibly damaging 0.55
IGL02563:Ksr1 APN 11 79044858 missense possibly damaging 0.73
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