Incidental Mutation 'R8704:Haspin'
ID 669201
Institutional Source Beutler Lab
Gene Symbol Haspin
Ensembl Gene ENSMUSG00000050107
Gene Name histone H3 associated protein kinase
Synonyms Gsg2
MMRRC Submission 068558-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.816) question?
Stock # R8704 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 73026311-73029120 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73028828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 87 (N87S)
Ref Sequence ENSEMBL: ENSMUSP00000055806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006101] [ENSMUST00000052140] [ENSMUST00000102537]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000006101
SMART Domains Protein: ENSMUSP00000006101
Gene: ENSMUSG00000005947

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Blast:Int_alpha 36 118 1e-24 BLAST
VWA 193 380 1.13e-39 SMART
Int_alpha 448 496 1.49e-3 SMART
Int_alpha 502 559 6.83e-12 SMART
Int_alpha 565 626 1.79e-15 SMART
Int_alpha 633 685 6.29e0 SMART
transmembrane domain 1115 1137 N/A INTRINSIC
Pfam:Integrin_alpha 1138 1152 1.1e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000052140
AA Change: N87S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000055806
Gene: ENSMUSG00000050107
AA Change: N87S

DomainStartEndE-ValueType
low complexity region 61 67 N/A INTRINSIC
low complexity region 74 89 N/A INTRINSIC
low complexity region 95 106 N/A INTRINSIC
low complexity region 357 378 N/A INTRINSIC
SCOP:d1h8fa_ 437 619 1e-8 SMART
DUF3635 664 753 3.83e-45 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102537
SMART Domains Protein: ENSMUSP00000099596
Gene: ENSMUSG00000005947

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Blast:Int_alpha 36 118 5e-25 BLAST
VWA 193 380 1.13e-39 SMART
Int_alpha 448 496 1.49e-3 SMART
Int_alpha 502 559 6.83e-12 SMART
Int_alpha 565 626 1.79e-15 SMART
Int_alpha 633 685 6.29e0 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.5%
Validation Efficiency 98% (39/40)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 T C 11: 69,773,489 (GRCm39) Q628R possibly damaging Het
Agbl1 G T 7: 76,239,302 (GRCm39) probably benign Het
Brf2 A G 8: 27,618,499 (GRCm39) V35A possibly damaging Het
Chtf8 A C 8: 107,612,672 (GRCm39) M89R probably benign Het
Copa A G 1: 171,931,693 (GRCm39) I315V probably benign Het
Csmd2 G A 4: 128,091,147 (GRCm39) E229K Het
Etf1 T C 18: 35,039,139 (GRCm39) E376G probably damaging Het
Fat2 T A 11: 55,172,137 (GRCm39) I2859F probably damaging Het
Foxp1 C G 6: 98,993,507 (GRCm39) Q132H unknown Het
Gal3st3 T C 19: 5,352,663 (GRCm39) V30A probably benign Het
Gars1 C T 6: 55,040,215 (GRCm39) R381C probably damaging Het
Gjd3 C T 11: 98,873,445 (GRCm39) R133H probably damaging Het
Hcrt A T 11: 100,652,752 (GRCm39) probably benign Het
Heatr6 T A 11: 83,668,104 (GRCm39) M866K probably benign Het
Igf1r T C 7: 67,819,802 (GRCm39) probably benign Het
Lgr5 A G 10: 115,288,610 (GRCm39) L678P probably benign Het
Lypd5 A G 7: 24,050,982 (GRCm39) H31R possibly damaging Het
Mib2 A G 4: 155,743,620 (GRCm39) M275T possibly damaging Het
Mmp19 G A 10: 128,634,703 (GRCm39) V440I probably benign Het
Nefm T C 14: 68,358,510 (GRCm39) E508G unknown Het
Nlrp4a A T 7: 26,156,563 (GRCm39) I763L probably benign Het
Or5p61 A T 7: 107,758,711 (GRCm39) V123D possibly damaging Het
Or9g4 T A 2: 85,504,562 (GRCm39) H311L Het
Pcdhb1 T A 18: 37,399,402 (GRCm39) V451D possibly damaging Het
Pfkfb2 T C 1: 130,625,780 (GRCm39) N467D probably benign Het
Ptprc G A 1: 138,043,362 (GRCm39) T63I probably benign Het
Rab9 C T X: 165,240,754 (GRCm39) D186N probably benign Het
Rhobtb2 G A 14: 70,031,373 (GRCm39) P584L probably damaging Het
Rhoc G C 3: 104,699,342 (GRCm39) A44P probably damaging Het
Sardh T C 2: 27,120,477 (GRCm39) E435G possibly damaging Het
Stfa1 A T 16: 36,105,536 (GRCm39) D89V probably damaging Het
Tec T C 5: 72,926,105 (GRCm39) K316E probably damaging Het
Tsen15 A T 1: 152,247,541 (GRCm39) Y150* probably null Het
Ugt1a5 T C 1: 88,094,087 (GRCm39) I105T probably benign Het
Usp25 A G 16: 76,856,178 (GRCm39) D257G probably benign Het
Vmn1r195 A G 13: 22,463,058 (GRCm39) Y176C possibly damaging Het
Wdr31 G A 4: 62,380,442 (GRCm39) A87V probably benign Het
Wwp2 A T 8: 108,212,228 (GRCm39) T177S probably benign Het
Zfp28 T C 7: 6,397,637 (GRCm39) C691R probably damaging Het
Other mutations in Haspin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01636:Haspin APN 11 73,028,231 (GRCm39) missense possibly damaging 0.85
IGL03088:Haspin APN 11 73,027,451 (GRCm39) missense probably damaging 1.00
IGL03103:Haspin APN 11 73,027,526 (GRCm39) missense probably damaging 1.00
Suddenly UTSW 11 73,027,712 (GRCm39) missense probably benign 0.02
yesterday UTSW 11 73,028,377 (GRCm39) nonsense probably null
R0034:Haspin UTSW 11 73,029,044 (GRCm39) missense probably damaging 1.00
R0276:Haspin UTSW 11 73,027,313 (GRCm39) missense probably damaging 1.00
R0313:Haspin UTSW 11 73,027,124 (GRCm39) missense probably damaging 0.97
R2165:Haspin UTSW 11 73,027,456 (GRCm39) missense probably damaging 1.00
R2326:Haspin UTSW 11 73,026,911 (GRCm39) missense probably benign 0.05
R3950:Haspin UTSW 11 73,027,221 (GRCm39) missense probably damaging 1.00
R4168:Haspin UTSW 11 73,026,848 (GRCm39) missense probably damaging 1.00
R4565:Haspin UTSW 11 73,028,445 (GRCm39) missense probably benign 0.00
R6532:Haspin UTSW 11 73,028,377 (GRCm39) nonsense probably null
R6552:Haspin UTSW 11 73,028,390 (GRCm39) missense probably benign 0.02
R6952:Haspin UTSW 11 73,026,971 (GRCm39) missense possibly damaging 0.95
R7237:Haspin UTSW 11 73,027,712 (GRCm39) missense probably benign 0.02
R7512:Haspin UTSW 11 73,027,418 (GRCm39) missense probably damaging 1.00
R8254:Haspin UTSW 11 73,027,572 (GRCm39) missense probably benign 0.21
R8919:Haspin UTSW 11 73,027,430 (GRCm39) missense probably benign 0.13
R8935:Haspin UTSW 11 73,026,890 (GRCm39) missense probably damaging 1.00
R9022:Haspin UTSW 11 73,026,831 (GRCm39) missense probably damaging 1.00
R9217:Haspin UTSW 11 73,026,936 (GRCm39) missense probably benign 0.01
Z1186:Haspin UTSW 11 73,028,777 (GRCm39) missense probably benign
Z1186:Haspin UTSW 11 73,028,174 (GRCm39) missense probably benign
Z1187:Haspin UTSW 11 73,028,777 (GRCm39) missense probably benign
Z1187:Haspin UTSW 11 73,028,174 (GRCm39) missense probably benign
Z1188:Haspin UTSW 11 73,028,777 (GRCm39) missense probably benign
Z1188:Haspin UTSW 11 73,028,174 (GRCm39) missense probably benign
Z1189:Haspin UTSW 11 73,028,777 (GRCm39) missense probably benign
Z1189:Haspin UTSW 11 73,028,174 (GRCm39) missense probably benign
Z1190:Haspin UTSW 11 73,028,777 (GRCm39) missense probably benign
Z1190:Haspin UTSW 11 73,028,174 (GRCm39) missense probably benign
Z1191:Haspin UTSW 11 73,028,777 (GRCm39) missense probably benign
Z1191:Haspin UTSW 11 73,028,174 (GRCm39) missense probably benign
Z1192:Haspin UTSW 11 73,028,777 (GRCm39) missense probably benign
Z1192:Haspin UTSW 11 73,028,174 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CAGACGGTTCACTTAGGGAG -3'
(R):5'- TGGCTGAGCAATGGTTCCAG -3'

Sequencing Primer
(F):5'- TTCACTTAGGGAGGCTGCC -3'
(R):5'- CAATGGTTCCAGCCGCC -3'
Posted On 2021-04-30