Incidental Mutation 'IGL01304:Ksr1'
ID 73358
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ksr1
Ensembl Gene ENSMUSG00000018334
Gene Name kinase suppressor of ras 1
Synonyms D11Bhm183e, B-KSR1, D11Bhm184e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # IGL01304
Quality Score
Status
Chromosome 11
Chromosomal Location 78904266-79037233 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78918468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 562 (Q562R)
Ref Sequence ENSEMBL: ENSMUSP00000103899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018478] [ENSMUST00000108264] [ENSMUST00000208969] [ENSMUST00000226282]
AlphaFold Q61097
Predicted Effect probably damaging
Transcript: ENSMUST00000018478
AA Change: Q562R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000018478
Gene: ENSMUSG00000018334
AA Change: Q562R

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: Q562R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103899
Gene: ENSMUSG00000018334
AA Change: Q562R

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 damaging
Transcript: ENSMUST00000226282
AA Change: Q480R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,204,153 (GRCm39) D79E probably benign Het
Aplf A C 6: 87,618,882 (GRCm39) S421A possibly damaging Het
Arnt T G 3: 95,355,696 (GRCm39) D13E probably damaging Het
Asap1 T C 15: 64,184,298 (GRCm39) E45G probably damaging Het
C2cd2l T C 9: 44,230,884 (GRCm39) N101S probably damaging Het
Cby2 T A 14: 75,830,085 (GRCm39) D36V possibly damaging Het
Chmp7 G A 14: 69,956,062 (GRCm39) P402L probably benign Het
Cir1 A T 2: 73,118,068 (GRCm39) probably null Het
Clock A G 5: 76,414,202 (GRCm39) probably null Het
Col18a1 T G 10: 76,911,975 (GRCm39) probably benign Het
Csf2ra G A 19: 61,215,271 (GRCm39) H115Y possibly damaging Het
Cspg5 T A 9: 110,085,236 (GRCm39) L469H probably damaging Het
Dapk2 T C 9: 66,139,139 (GRCm39) probably benign Het
F13a1 T C 13: 37,172,852 (GRCm39) D176G probably benign Het
Fbn2 T C 18: 58,194,817 (GRCm39) E1448G probably damaging Het
Gtf2b C T 3: 142,487,359 (GRCm39) S265L probably benign Het
Hmcn1 C T 1: 150,498,675 (GRCm39) G4068D probably damaging Het
Krt81 G A 15: 101,361,269 (GRCm39) H104Y probably benign Het
Lrif1 C T 3: 106,639,049 (GRCm39) P20S probably damaging Het
Mamdc4 T C 2: 25,453,588 (GRCm39) T1194A possibly damaging Het
Med18 C A 4: 132,186,930 (GRCm39) A190S probably damaging Het
Mia2 G A 12: 59,151,324 (GRCm39) E105K probably damaging Het
Mnt T A 11: 74,733,011 (GRCm39) Y48N probably damaging Het
Mpp4 A C 1: 59,188,678 (GRCm39) probably null Het
Or4b1b G A 2: 90,112,425 (GRCm39) P165S possibly damaging Het
Popdc3 T G 10: 45,194,005 (GRCm39) S269A probably benign Het
Ppp6r3 A T 19: 3,517,261 (GRCm39) M662K probably damaging Het
Qser1 C A 2: 104,617,976 (GRCm39) Q945H probably damaging Het
Rad52 A G 6: 119,895,594 (GRCm39) E198G probably damaging Het
Ranbp17 A G 11: 33,216,147 (GRCm39) V867A possibly damaging Het
Rdh16 G T 10: 127,649,365 (GRCm39) A274S probably benign Het
Slco1a5 G T 6: 142,187,876 (GRCm39) Q488K probably benign Het
Snai2 T C 16: 14,524,635 (GRCm39) I47T probably benign Het
Snw1 T C 12: 87,500,685 (GRCm39) D358G possibly damaging Het
Speg T C 1: 75,404,841 (GRCm39) F2878L probably benign Het
Spg11 T C 2: 121,902,771 (GRCm39) Y1386C probably damaging Het
Tgfb2 A C 1: 186,357,670 (GRCm39) I435S probably damaging Het
Ttc9b G A 7: 27,355,410 (GRCm39) D227N probably benign Het
Txndc2 T C 17: 65,945,448 (GRCm39) E243G possibly damaging Het
Usp28 A G 9: 48,938,119 (GRCm39) D563G probably damaging Het
Vmn1r77 T C 7: 11,775,962 (GRCm39) V178A probably damaging Het
Zfp316 A G 5: 143,240,181 (GRCm39) F613L probably benign Het
Zfp870 A T 17: 33,101,980 (GRCm39) C450S possibly damaging Het
Other mutations in Ksr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:Ksr1 APN 11 78,918,343 (GRCm39) missense probably damaging 1.00
IGL01482:Ksr1 APN 11 78,927,409 (GRCm39) missense probably damaging 1.00
IGL01928:Ksr1 APN 11 78,935,665 (GRCm39) splice site probably null
IGL02025:Ksr1 APN 11 78,912,276 (GRCm39) splice site probably null
IGL02176:Ksr1 APN 11 78,911,617 (GRCm39) missense probably benign 0.00
IGL02374:Ksr1 APN 11 78,919,317 (GRCm39) missense probably benign 0.02
IGL02511:Ksr1 APN 11 78,936,046 (GRCm39) missense possibly damaging 0.55
IGL02563:Ksr1 APN 11 78,935,684 (GRCm39) missense possibly damaging 0.73
IGL02662:Ksr1 APN 11 78,927,551 (GRCm39) missense probably damaging 1.00
IGL02823:Ksr1 APN 11 78,912,229 (GRCm39) missense probably benign 0.35
IGL02879:Ksr1 APN 11 78,965,270 (GRCm39) missense probably damaging 1.00
julius UTSW 11 78,927,320 (GRCm39) critical splice donor site probably null
R0096:Ksr1 UTSW 11 78,929,073 (GRCm39) splice site probably benign
R0096:Ksr1 UTSW 11 78,929,073 (GRCm39) splice site probably benign
R0364:Ksr1 UTSW 11 78,919,851 (GRCm39) splice site probably benign
R0479:Ksr1 UTSW 11 78,916,109 (GRCm39) missense probably damaging 1.00
R0590:Ksr1 UTSW 11 78,935,966 (GRCm39) missense probably damaging 1.00
R0711:Ksr1 UTSW 11 78,929,073 (GRCm39) splice site probably benign
R0743:Ksr1 UTSW 11 78,912,329 (GRCm39) missense possibly damaging 0.79
R0884:Ksr1 UTSW 11 78,912,329 (GRCm39) missense possibly damaging 0.79
R1272:Ksr1 UTSW 11 79,036,904 (GRCm39) nonsense probably null
R1739:Ksr1 UTSW 11 78,938,131 (GRCm39) missense probably damaging 1.00
R1885:Ksr1 UTSW 11 78,927,347 (GRCm39) missense probably damaging 1.00
R1885:Ksr1 UTSW 11 78,911,204 (GRCm39) missense probably null
R1886:Ksr1 UTSW 11 78,911,204 (GRCm39) missense probably null
R2118:Ksr1 UTSW 11 78,936,019 (GRCm39) missense probably benign 0.10
R2127:Ksr1 UTSW 11 78,924,139 (GRCm39) missense probably damaging 1.00
R2939:Ksr1 UTSW 11 78,936,007 (GRCm39) splice site probably null
R4090:Ksr1 UTSW 11 78,918,303 (GRCm39) missense probably damaging 1.00
R4675:Ksr1 UTSW 11 78,965,186 (GRCm39) missense possibly damaging 0.81
R4854:Ksr1 UTSW 11 78,918,528 (GRCm39) missense probably damaging 1.00
R5267:Ksr1 UTSW 11 78,911,251 (GRCm39) missense probably damaging 1.00
R5813:Ksr1 UTSW 11 78,929,024 (GRCm39) missense probably damaging 1.00
R5928:Ksr1 UTSW 11 78,950,545 (GRCm39) missense probably damaging 0.96
R6199:Ksr1 UTSW 11 78,911,267 (GRCm39) missense possibly damaging 0.65
R6346:Ksr1 UTSW 11 78,910,490 (GRCm39) missense possibly damaging 0.93
R6377:Ksr1 UTSW 11 78,927,320 (GRCm39) critical splice donor site probably null
R6885:Ksr1 UTSW 11 78,938,121 (GRCm39) critical splice donor site probably null
R7016:Ksr1 UTSW 11 78,918,362 (GRCm39) missense probably damaging 1.00
R8803:Ksr1 UTSW 11 79,036,882 (GRCm39) missense probably benign 0.02
R8984:Ksr1 UTSW 11 78,931,709 (GRCm39) missense probably damaging 1.00
R8991:Ksr1 UTSW 11 78,936,014 (GRCm39) missense probably benign 0.01
R9056:Ksr1 UTSW 11 78,918,465 (GRCm39) missense possibly damaging 0.78
R9077:Ksr1 UTSW 11 78,927,552 (GRCm39) missense probably damaging 1.00
R9139:Ksr1 UTSW 11 78,911,572 (GRCm39) missense probably benign 0.00
R9308:Ksr1 UTSW 11 78,918,291 (GRCm39) missense probably damaging 1.00
R9447:Ksr1 UTSW 11 78,909,159 (GRCm39) missense unknown
R9455:Ksr1 UTSW 11 78,911,602 (GRCm39) missense possibly damaging 0.92
R9511:Ksr1 UTSW 11 78,924,094 (GRCm39) missense possibly damaging 0.95
U24488:Ksr1 UTSW 11 78,938,267 (GRCm39) missense probably damaging 1.00
Z1088:Ksr1 UTSW 11 78,935,705 (GRCm39) splice site probably null
Z1176:Ksr1 UTSW 11 78,918,426 (GRCm39) missense probably benign 0.04
Z1176:Ksr1 UTSW 11 78,911,577 (GRCm39) missense possibly damaging 0.53
Posted On 2013-10-07