Incidental Mutation 'R7792:Hus1'
ID 599963
Institutional Source Beutler Lab
Gene Symbol Hus1
Ensembl Gene ENSMUSG00000020413
Gene Name HUS1 checkpoint clamp component
MMRRC Submission 045848-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7792 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 8943137-8961191 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8950133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 196 (E196G)
Ref Sequence ENSEMBL: ENSMUSP00000114339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020683] [ENSMUST00000129115]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000020683
AA Change: E196G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000020683
Gene: ENSMUSG00000020413
AA Change: E196G

Pfam:Hus1 1 280 5.1e-86 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000129115
AA Change: E196G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000114339
Gene: ENSMUSG00000020413
AA Change: E196G

Pfam:Hus1 1 280 4.8e-89 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139877
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152890
Meta Mutation Damage Score 0.7851 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (97/97)
MGI Phenotype FUNCTION: This gene encodes a component of a cell cycle checkpoint complex that causes cell cycle arrest in response to bulky DNA lesions and DNA replication blockage. Together with the proteins Rad9 and Rad1, the encoded protein forms a heterotrimeric complex known as the 9-1-1 complex. Mice lacking the encoded protein develop spontaneous chromosomal abnormalities resulting in embryonic lethality. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects in yolk sac vascularization, placental abnormalities, extensive apoptosis, and midgestational lethality. Mutant cells show increased chromosomal abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 G T 8: 111,769,896 (GRCm39) V332F possibly damaging Het
Abhd15 T A 11: 77,409,560 (GRCm39) S425T probably benign Het
Acads A T 5: 115,250,840 (GRCm39) F152L probably damaging Het
Acp3 T A 9: 104,204,165 (GRCm39) H43L probably damaging Het
Adora2a A G 10: 75,169,480 (GRCm39) S315G probably benign Het
Agxt2 A T 15: 10,381,472 (GRCm39) D242V probably damaging Het
Alx4 A G 2: 93,473,056 (GRCm39) D18G probably damaging Het
Ankrd11 A G 8: 123,610,970 (GRCm39) S2639P probably damaging Het
Arhgap35 A T 7: 16,295,453 (GRCm39) V1204D possibly damaging Het
Arid2 A G 15: 96,267,256 (GRCm39) T579A probably benign Het
B4galt1 C T 4: 40,809,373 (GRCm39) G332S probably benign Het
B4galt4 C A 16: 38,578,172 (GRCm39) Y206* probably null Het
Bcl2l14 A T 6: 134,409,277 (GRCm39) T284S possibly damaging Het
Bop1 C T 15: 76,338,548 (GRCm39) V465M probably damaging Het
Cacna1b A T 2: 24,567,977 (GRCm39) L1037H probably damaging Het
Cadm2 G A 16: 66,568,523 (GRCm39) T254M probably benign Het
Ccdc180 T C 4: 45,890,389 (GRCm39) probably null Het
Ccdc7a A T 8: 129,618,918 (GRCm39) D875E possibly damaging Het
Cenpu A G 8: 47,015,502 (GRCm39) D139G possibly damaging Het
Cep57l1 A T 10: 41,598,936 (GRCm39) C292* probably null Het
Cep89 G A 7: 35,129,353 (GRCm39) R630H probably damaging Het
Chst14 A G 2: 118,758,256 (GRCm39) H350R probably benign Het
Clca3a1 T A 3: 144,455,492 (GRCm39) I434F possibly damaging Het
Crispld2 A G 8: 120,757,809 (GRCm39) T385A probably benign Het
Crmp1 A C 5: 37,441,439 (GRCm39) N507T probably damaging Het
Cyp4f40 T A 17: 32,890,143 (GRCm39) I271N probably damaging Het
D630003M21Rik G T 2: 158,052,082 (GRCm39) Q670K possibly damaging Het
Ddx42 T C 11: 106,127,822 (GRCm39) I342T probably damaging Het
Dnah9 T A 11: 65,740,839 (GRCm39) I4116F probably damaging Het
Ehd2 T C 7: 15,684,683 (GRCm39) H372R probably benign Het
Gja8 C A 3: 96,827,092 (GRCm39) C190F probably damaging Het
Gm8297 A T 14: 16,165,939 (GRCm39) D72V possibly damaging Het
Golgb1 A G 16: 36,739,092 (GRCm39) D2518G probably benign Het
Hsd17b12 C A 2: 93,863,986 (GRCm39) M285I probably benign Het
Ift70a2 T C 2: 75,807,273 (GRCm39) N413S probably benign Het
Irf2 G A 8: 47,260,314 (GRCm39) R82Q probably damaging Het
Irx2 A G 13: 72,779,493 (GRCm39) D259G possibly damaging Het
Jph1 T A 1: 17,074,602 (GRCm39) Q472L probably benign Het
Kif2a T C 13: 107,124,490 (GRCm39) Q142R probably benign Het
Lonp1 T C 17: 56,929,515 (GRCm39) Y174C probably damaging Het
Mapk14 T C 17: 28,965,271 (GRCm39) F348L probably damaging Het
Marchf10 G T 11: 105,281,054 (GRCm39) D410E probably benign Het
Mff A T 1: 82,724,802 (GRCm39) probably null Het
Mtrex A T 13: 113,009,443 (GRCm39) D985E probably benign Het
Necab3 G A 2: 154,388,200 (GRCm39) R271C probably damaging Het
Nlrp4e T A 7: 23,021,182 (GRCm39) F556L possibly damaging Het
Nt5c2 T C 19: 46,878,385 (GRCm39) K425E probably benign Het
Ofcc1 A T 13: 40,296,302 (GRCm39) W511R probably damaging Het
Or1j18 A C 2: 36,624,342 (GRCm39) E3A probably benign Het
Or2v1 T A 11: 49,025,496 (GRCm39) I159N possibly damaging Het
Or4k77 T C 2: 111,199,748 (GRCm39) I257T probably benign Het
Or52p2 T A 7: 102,238,090 (GRCm39) probably benign Het
P2rx2 G C 5: 110,488,210 (GRCm39) A448G possibly damaging Het
Pcnx2 A T 8: 126,618,757 (GRCm39) N56K possibly damaging Het
Pdzd7 A C 19: 45,028,657 (GRCm39) M162R possibly damaging Het
Phyhd1 A G 2: 30,156,782 (GRCm39) M1V probably null Het
Plaat3 T C 19: 7,556,660 (GRCm39) C154R probably benign Het
Plekha5 A G 6: 140,534,950 (GRCm39) E1126G possibly damaging Het
Plekhm1 A T 11: 103,287,886 (GRCm39) V87D probably damaging Het
Pole G A 5: 110,445,332 (GRCm39) probably null Het
Pramel22 A G 4: 143,381,123 (GRCm39) L300P probably benign Het
R3hcc1 T C 14: 69,942,957 (GRCm39) M207V probably benign Het
R3hcc1l T A 19: 42,552,403 (GRCm39) S467T probably damaging Het
Rasgrp4 G T 7: 28,842,527 (GRCm39) R267L probably damaging Het
Rbm20 T C 19: 53,838,567 (GRCm39) I848T probably benign Het
Rims2 T C 15: 39,061,923 (GRCm39) S56P possibly damaging Het
Rmc1 G A 18: 12,314,656 (GRCm39) D289N probably damaging Het
Sacs T A 14: 61,447,222 (GRCm39) D3089E probably benign Het
Sall2 C T 14: 52,553,521 (GRCm39) G16R probably damaging Het
Scgb1b19 G A 7: 32,987,912 (GRCm39) C93Y probably damaging Het
Scn3a T A 2: 65,297,334 (GRCm39) K1442* probably null Het
Sepsecs A G 5: 52,801,391 (GRCm39) S424P probably damaging Het
Set G T 2: 29,960,323 (GRCm39) V219F probably benign Het
Sh3tc1 A T 5: 35,868,295 (GRCm39) F390I probably damaging Het
Simc1 G A 13: 54,695,143 (GRCm39) V1269M probably damaging Het
Ska3 T G 14: 58,047,512 (GRCm39) D341A probably damaging Het
Slc16a10 A T 10: 39,913,411 (GRCm39) probably null Het
Srgap1 T A 10: 121,761,872 (GRCm39) N92I probably damaging Het
Sspo T C 6: 48,431,624 (GRCm39) V639A probably damaging Het
Stk11 A T 10: 79,961,271 (GRCm39) probably benign Het
Sult5a1 G A 8: 123,872,180 (GRCm39) H221Y probably benign Het
Sytl3 T A 17: 7,003,977 (GRCm39) M559K probably benign Het
Tab2 A C 10: 7,794,897 (GRCm39) D528E possibly damaging Het
Tbc1d15 A G 10: 115,057,492 (GRCm39) I218T possibly damaging Het
Tenm4 T A 7: 96,423,221 (GRCm39) M672K possibly damaging Het
Tent4b A T 8: 88,979,182 (GRCm39) Q561L probably benign Het
Tfrc A G 16: 32,437,985 (GRCm39) K346R probably benign Het
Thsd1 G T 8: 22,733,114 (GRCm39) G54W probably damaging Het
Tmprss15 A T 16: 78,800,275 (GRCm39) L618I probably damaging Het
Top3a T C 11: 60,633,790 (GRCm39) S769G probably benign Het
Trp63 C A 16: 25,686,974 (GRCm39) P396Q possibly damaging Het
Uggt1 T C 1: 36,247,065 (GRCm39) S311G probably damaging Het
Usp10 G A 8: 120,678,740 (GRCm39) E574K possibly damaging Het
Wfdc6b T A 2: 164,459,822 (GRCm39) I148K probably damaging Het
Zcchc2 T G 1: 105,945,982 (GRCm39) I474R probably damaging Het
Zdhhc2 A G 8: 40,900,182 (GRCm39) K82R probably benign Het
Zfp273 A G 13: 67,974,135 (GRCm39) D421G possibly damaging Het
Zfp280d T C 9: 72,238,601 (GRCm39) I639T probably damaging Het
Zfp429 A T 13: 67,538,558 (GRCm39) C295* probably null Het
Other mutations in Hus1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01543:Hus1 APN 11 8,950,082 (GRCm39) missense probably benign 0.00
IGL01974:Hus1 APN 11 8,950,088 (GRCm39) missense possibly damaging 0.58
IGL02301:Hus1 APN 11 8,946,915 (GRCm39) missense probably benign
IGL02436:Hus1 APN 11 8,956,057 (GRCm39) missense possibly damaging 0.93
R0694:Hus1 UTSW 11 8,957,531 (GRCm39) nonsense probably null
R2108:Hus1 UTSW 11 8,961,110 (GRCm39) start codon destroyed probably null 1.00
R2128:Hus1 UTSW 11 8,956,011 (GRCm39) missense probably damaging 1.00
R2329:Hus1 UTSW 11 8,957,492 (GRCm39) critical splice donor site probably null
R4363:Hus1 UTSW 11 8,948,676 (GRCm39) missense probably damaging 1.00
R4420:Hus1 UTSW 11 8,950,133 (GRCm39) missense probably damaging 1.00
R4453:Hus1 UTSW 11 8,956,035 (GRCm39) missense probably damaging 1.00
R4572:Hus1 UTSW 11 8,957,617 (GRCm39) splice site probably null
R4818:Hus1 UTSW 11 8,946,808 (GRCm39) utr 3 prime probably benign
R4913:Hus1 UTSW 11 8,946,856 (GRCm39) missense probably benign 0.03
R4989:Hus1 UTSW 11 8,956,027 (GRCm39) missense probably damaging 0.97
R5402:Hus1 UTSW 11 8,960,240 (GRCm39) critical splice donor site probably null
R5902:Hus1 UTSW 11 8,960,669 (GRCm39) intron probably benign
R6402:Hus1 UTSW 11 8,960,407 (GRCm39) missense probably damaging 1.00
R9155:Hus1 UTSW 11 8,956,056 (GRCm39) missense probably damaging 1.00
R9469:Hus1 UTSW 11 8,948,744 (GRCm39) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-11-26