Incidental Mutation 'R0590:Ksr1'
ID 55935
Institutional Source Beutler Lab
Gene Symbol Ksr1
Ensembl Gene ENSMUSG00000018334
Gene Name kinase suppressor of ras 1
Synonyms D11Bhm183e, B-KSR1, D11Bhm184e
MMRRC Submission 038780-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R0590 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 78904266-79037233 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78935966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 133 (S133P)
Ref Sequence ENSEMBL: ENSMUSP00000116407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018478] [ENSMUST00000108264] [ENSMUST00000129463] [ENSMUST00000141409] [ENSMUST00000208969] [ENSMUST00000226282]
AlphaFold Q61097
Predicted Effect probably damaging
Transcript: ENSMUST00000018478
AA Change: S215P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000018478
Gene: ENSMUSG00000018334
AA Change: S215P

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: S215P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103899
Gene: ENSMUSG00000018334
AA Change: S215P

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 damaging
Transcript: ENSMUST00000141409
AA Change: S133P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116407
Gene: ENSMUSG00000018334
AA Change: S133P

DomainStartEndE-ValueType
Pfam:KSR1-SAM 35 84 1.6e-12 PFAM
low complexity region 189 196 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000208969
AA Change: S140P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000226282
AA Change: S133P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.1752 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.7%
Validation Efficiency 100% (47/47)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat2 C T 4: 49,383,273 (GRCm39) M93I probably benign Het
Adamts16 T C 13: 70,949,073 (GRCm39) D196G probably benign Het
Adhfe1 T A 1: 9,618,378 (GRCm39) probably null Het
AI661453 A G 17: 47,777,999 (GRCm39) probably benign Het
Apc G T 18: 34,449,283 (GRCm39) E2026* probably null Het
Atg2a GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC 19: 6,295,037 (GRCm39) probably benign Het
Cad T C 5: 31,219,575 (GRCm39) S688P probably damaging Het
Ccdc191 C T 16: 43,751,704 (GRCm39) R345* probably null Het
Dcaf13 T A 15: 39,008,480 (GRCm39) probably benign Het
Drc1 A G 5: 30,520,480 (GRCm39) D607G probably benign Het
Fhip1a T C 3: 85,579,683 (GRCm39) R841G probably benign Het
Gli1 G T 10: 127,167,432 (GRCm39) A607E possibly damaging Het
Gls G A 1: 52,251,534 (GRCm39) probably benign Het
Gria1 A T 11: 57,180,235 (GRCm39) Q728H probably damaging Het
Hcrtr1 A G 4: 130,029,487 (GRCm39) L198P probably damaging Het
Ifngr1 T A 10: 19,479,690 (GRCm39) probably benign Het
Ipo5 T C 14: 121,181,769 (GRCm39) V954A possibly damaging Het
Kcnh5 G T 12: 75,012,035 (GRCm39) A628D probably damaging Het
Kif14 T C 1: 136,410,210 (GRCm39) S646P probably damaging Het
Neb T C 2: 52,027,302 (GRCm39) M7143V probably damaging Het
Nelfa G A 5: 34,059,169 (GRCm39) P229S probably damaging Het
Nfatc2 T C 2: 168,413,119 (GRCm39) T169A probably damaging Het
Nr1h4 A G 10: 89,292,429 (GRCm39) Y398H probably damaging Het
Nrcam A G 12: 44,610,815 (GRCm39) E511G probably damaging Het
Ocstamp T A 2: 165,239,671 (GRCm39) R172W probably damaging Het
Or10ag60 A G 2: 87,438,338 (GRCm39) E202G probably damaging Het
Or8d1 T A 9: 38,766,766 (GRCm39) M136K probably damaging Het
Or8g19 T C 9: 39,056,017 (GRCm39) V207A probably benign Het
Phf14 G A 6: 11,961,577 (GRCm39) V405I possibly damaging Het
Plk5 G A 10: 80,196,057 (GRCm39) R238H probably damaging Het
Pole A G 5: 110,465,792 (GRCm39) E1240G probably benign Het
Prdm15 A G 16: 97,598,961 (GRCm39) I899T possibly damaging Het
Psip1 T C 4: 83,376,381 (GRCm39) N486S probably benign Het
Rlf A G 4: 121,028,030 (GRCm39) probably benign Het
Rttn T C 18: 88,997,759 (GRCm39) S255P probably damaging Het
Rusf1 A G 7: 127,896,642 (GRCm39) L134P probably damaging Het
Sema6c A G 3: 95,079,934 (GRCm39) K711E probably damaging Het
Slc4a10 A T 2: 62,021,237 (GRCm39) probably benign Het
Trim36 T G 18: 46,305,643 (GRCm39) S435R probably benign Het
Ucp1 A G 8: 84,018,232 (GRCm39) probably benign Het
Vmn1r17 T C 6: 57,337,999 (GRCm39) Y122C probably benign Het
Vmn1r23 A G 6: 57,903,349 (GRCm39) V143A probably benign Het
Wdfy4 T A 14: 32,763,131 (GRCm39) Q2166L probably benign Het
Zc3h7b C T 15: 81,661,199 (GRCm39) T346M possibly damaging Het
Zfhx4 T A 3: 5,467,693 (GRCm39) V2617D probably damaging Het
Other mutations in Ksr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:Ksr1 APN 11 78,918,343 (GRCm39) missense probably damaging 1.00
IGL01304:Ksr1 APN 11 78,918,468 (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
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
Predicted Primers PCR Primer
(F):5'- CAACTGCATCATAGGGATGGACACC -3'
(R):5'- TGAGTGCCTTGTATTTCTGACCGAC -3'

Sequencing Primer
(F):5'- CAGTCCTTAGTATGTGCCTAAGAG -3'
(R):5'- CTGACCGACTCCTTGGC -3'
Posted On 2013-07-11