Incidental Mutation 'R7701:Ska1'
ID594032
Institutional Source Beutler Lab
Gene Symbol Ska1
Ensembl Gene ENSMUSG00000036223
Gene Namespindle and kinetochore associated complex subunit 1
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.945) question?
Stock #R7701 (G1)
Quality Score225.009
Status Not validated
Chromosome18
Chromosomal Location74195299-74207818 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 74202643 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 85 (H85Q)
Ref Sequence ENSEMBL: ENSMUSP00000049156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040188] [ENSMUST00000177604]
Predicted Effect probably damaging
Transcript: ENSMUST00000040188
AA Change: H85Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049156
Gene: ENSMUSG00000036223
AA Change: H85Q

DomainStartEndE-ValueType
Pfam:DUF1395 15 247 2.2e-88 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177604
AA Change: H85Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137357
Gene: ENSMUSG00000036223
AA Change: H85Q

DomainStartEndE-ValueType
Pfam:DUF1395 15 249 6.2e-106 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
MGI Phenotype A mutation in this unidentified gene results in axial skeletal defects and head tossing behavior in homozygotes.
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930470P17Rik T C 2: 170,601,305 probably benign Het
4932414N04Rik G A 2: 68,731,204 V292M possibly damaging Het
4933415A04Rik GTGT GTGTCTGT 11: 43,587,434 probably null Het
4933415A04Rik GTGT GTGTTTGT 11: 43,587,438 probably null Het
Actn1 A T 12: 80,174,554 V575E possibly damaging Het
Arhgef1 T C 7: 24,912,578 S129P probably benign Het
Aup1 T C 6: 83,055,927 V214A probably benign Het
AW822073 A G 10: 58,223,063 V623A possibly damaging Het
Bbs10 A G 10: 111,300,013 E329G probably damaging Het
Brinp2 A G 1: 158,266,460 probably null Het
Ccdc3 A G 2: 5,138,057 T42A possibly damaging Het
Cd276 T C 9: 58,535,527 N215S probably benign Het
Col24a1 T A 3: 145,315,011 M381K probably benign Het
Col6a4 A C 9: 106,082,888 F19V probably benign Het
Crybg1 G T 10: 43,989,143 A1446E probably benign Het
Dach1 C T 14: 97,903,234 R496K probably damaging Het
Dchs2 A G 3: 83,346,206 T2308A possibly damaging Het
Dync1h1 G A 12: 110,618,646 D828N probably damaging Het
Eif2a A T 3: 58,552,570 H462L possibly damaging Het
Gas2 T G 7: 51,993,353 Y263* probably null Het
Gm5111 A G 6: 48,590,093 I81V unknown Het
Iqcm A G 8: 75,554,911 I7M probably benign Het
Kank1 G A 19: 25,411,765 probably null Het
Lnx2 A T 5: 147,024,523 V533E probably damaging Het
Mapk8ip3 G T 17: 24,901,404 P904T possibly damaging Het
Mcm5 C A 8: 75,123,923 H596N probably benign Het
Miip A T 4: 147,862,914 V237E probably null Het
Mob3a G A 10: 80,689,934 A181V probably damaging Het
Mrpl38 G A 11: 116,135,278 R99W probably benign Het
Naa25 A G 5: 121,425,979 T486A probably benign Het
Olfr1454 A G 19: 13,064,081 I223M probably damaging Het
Olfr373 T A 8: 72,100,186 L142Q probably damaging Het
Olfr967 A G 9: 39,751,301 Y305C probably benign Het
Pcdha8 A T 18: 36,993,811 N449Y probably damaging Het
Pcdhb6 A T 18: 37,334,509 D161V probably damaging Het
Pdlim3 A G 8: 45,908,539 D134G probably benign Het
Phpt1 A G 2: 25,574,787 V18A probably benign Het
Prg4 T C 1: 150,457,542 K177E possibly damaging Het
Psmb1 A G 17: 15,477,247 F202S probably benign Het
Rab14 A G 2: 35,183,415 F150L Het
Rgs14 A G 13: 55,379,325 D169G probably damaging Het
Rreb1 C T 13: 37,930,116 L484F possibly damaging Het
Rsph14 A T 10: 74,957,776 Y264* probably null Het
Scly T C 1: 91,308,308 I152T Het
Slc35b3 T C 13: 38,944,635 M159V probably benign Het
Spock1 G A 13: 57,587,659 Q103* probably null Het
Topbp1 T C 9: 103,332,985 V914A probably damaging Het
Tspan3 A T 9: 56,147,519 Y41* probably null Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,399,157 probably null Het
Ttn T G 2: 76,729,684 I29458L possibly damaging Het
Tubgcp3 A G 8: 12,655,974 S183P probably benign Het
Zfat C A 15: 68,180,908 E346* probably null Het
Zfp54 A G 17: 21,434,095 T284A probably benign Het
Other mutations in Ska1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02146:Ska1 APN 18 74196910 missense possibly damaging 0.88
IGL02685:Ska1 APN 18 74197048 missense probably benign 0.00
R0831:Ska1 UTSW 18 74197499 splice site probably benign
R2087:Ska1 UTSW 18 74206849 missense probably benign 0.06
R2232:Ska1 UTSW 18 74197066 splice site probably null
R4658:Ska1 UTSW 18 74197040 missense probably benign 0.01
R5671:Ska1 UTSW 18 74196996 missense probably damaging 1.00
R5876:Ska1 UTSW 18 74197528 missense probably damaging 1.00
R6019:Ska1 UTSW 18 74199921 missense probably benign 0.13
R6049:Ska1 UTSW 18 74202600 missense probably benign 0.00
R6885:Ska1 UTSW 18 74206839 missense probably benign 0.41
R7549:Ska1 UTSW 18 74200017 missense probably benign 0.01
R7757:Ska1 UTSW 18 74196973 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATTCTCATGGCAAAGAACGGC -3'
(R):5'- TTCATCTCAGCCCCACAGTG -3'

Sequencing Primer
(F):5'- CCTGAAGGAGTGAGGAGACTG -3'
(R):5'- GTGCTTGCTCTCTAAAAATGCAGGAG -3'
Posted On2019-11-12