Incidental Mutation 'R4428:Shq1'
ID 328272
Institutional Source Beutler Lab
Gene Symbol Shq1
Ensembl Gene ENSMUSG00000035378
Gene Name SHQ1 homolog (S. cerevisiae)
Synonyms 2810403P18Rik, Grim-1
MMRRC Submission 041698-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R4428 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 100548772-100648135 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100647889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 45 (Y45C)
Ref Sequence ENSEMBL: ENSMUSP00000127797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089245] [ENSMUST00000113312] [ENSMUST00000170667]
AlphaFold Q7TMX5
Predicted Effect probably damaging
Transcript: ENSMUST00000089245
AA Change: Y45C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086656
Gene: ENSMUSG00000035378
AA Change: Y45C

DomainStartEndE-ValueType
PDB:2K8Q|A 2 116 1e-9 PDB
low complexity region 117 132 N/A INTRINSIC
Pfam:SHQ1 237 308 1e-19 PFAM
low complexity region 341 362 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113312
AA Change: Y45C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108938
Gene: ENSMUSG00000035378
AA Change: Y45C

DomainStartEndE-ValueType
PDB:2K8Q|A 2 116 1e-9 PDB
low complexity region 117 132 N/A INTRINSIC
Pfam:SHQ1 232 419 5.8e-72 PFAM
low complexity region 452 473 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162776
Predicted Effect probably damaging
Transcript: ENSMUST00000170667
AA Change: Y45C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127797
Gene: ENSMUSG00000035378
AA Change: Y45C

DomainStartEndE-ValueType
PDB:2K8Q|A 2 116 1e-9 PDB
low complexity region 117 132 N/A INTRINSIC
Pfam:SHQ1 241 416 8.5e-72 PFAM
low complexity region 452 473 N/A INTRINSIC
Meta Mutation Damage Score 0.9241 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (46/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SHQ1 assists in the assembly of H/ACA-box ribonucleoproteins that function in the processing of ribosomal RNAs, modification of spliceosomal small nuclear RNAs, and stabilization of telomerase (see MIM 602322) (Grozdanov et al., 2009 [PubMed 19383767]).[supplied by OMIM, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Abcc1 T A 16: 14,263,164 (GRCm39) V708E probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Ccdc18 A G 5: 108,283,943 (GRCm39) Y82C probably benign Het
Cd82 T C 2: 93,250,214 (GRCm39) Y266C probably damaging Het
Chrna4 A G 2: 180,670,413 (GRCm39) S448P probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Cmpk1 T C 4: 114,820,559 (GRCm39) E180G probably benign Het
Dock8 T C 19: 25,177,863 (GRCm39) I2066T probably damaging Het
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Fgf3 T C 7: 144,394,444 (GRCm39) V86A probably damaging Het
Frem2 A G 3: 53,561,759 (GRCm39) I916T probably benign Het
Gsk3b T A 16: 38,014,298 (GRCm39) L252Q probably damaging Het
Kif18a A G 2: 109,118,466 (GRCm39) T94A probably damaging Het
Klhdc1 T A 12: 69,315,000 (GRCm39) probably benign Het
Klhl25 T A 7: 75,515,162 (GRCm39) F23I probably damaging Het
Mapk7 T C 11: 61,380,055 (GRCm39) D701G possibly damaging Het
Mbd5 A T 2: 49,169,776 (GRCm39) Q47L possibly damaging Het
Nrcam A G 12: 44,623,558 (GRCm39) D1049G possibly damaging Het
Olfml2a G T 2: 38,831,755 (GRCm39) M111I probably damaging Het
Or3a1c T C 11: 74,046,025 (GRCm39) F15S probably damaging Het
Pld2 A T 11: 70,432,160 (GRCm39) H93L probably damaging Het
Pomgnt2 T C 9: 121,811,320 (GRCm39) E487G possibly damaging Het
Psg17 G T 7: 18,550,717 (GRCm39) N379K probably benign Het
Rfk T A 19: 17,375,959 (GRCm39) H84Q possibly damaging Het
Scn8a A G 15: 100,881,784 (GRCm39) Y617C probably damaging Het
Sema3d T C 5: 12,498,087 (GRCm39) F31S probably benign Het
Siglecg C T 7: 43,067,350 (GRCm39) P639L possibly damaging Het
Skp2 A T 15: 9,117,034 (GRCm39) N325K probably benign Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sp8 T A 12: 118,812,938 (GRCm39) S264R possibly damaging Het
Sun1 T C 5: 139,220,230 (GRCm39) probably benign Het
Tardbp A G 4: 148,709,659 (GRCm39) V54A possibly damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem68 A T 4: 3,569,534 (GRCm39) I52K probably benign Het
Trhde A T 10: 114,339,028 (GRCm39) L594Q probably damaging Het
Umps A C 16: 33,781,956 (GRCm39) V322G probably damaging Het
Vmn2r109 T C 17: 20,773,286 (GRCm39) D445G probably benign Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vmn2r4 C T 3: 64,322,590 (GRCm39) G43E probably damaging Het
Other mutations in Shq1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00471:Shq1 APN 6 100,641,444 (GRCm39) missense probably benign 0.00
IGL01580:Shq1 APN 6 100,550,705 (GRCm39) missense possibly damaging 0.94
IGL02125:Shq1 APN 6 100,607,967 (GRCm39) missense probably benign 0.00
IGL02401:Shq1 APN 6 100,625,208 (GRCm39) missense probably damaging 1.00
IGL02811:Shq1 APN 6 100,607,945 (GRCm39) missense probably damaging 0.98
IGL03112:Shq1 APN 6 100,550,574 (GRCm39) nonsense probably null
R0309:Shq1 UTSW 6 100,550,588 (GRCm39) missense probably benign 0.01
R1163:Shq1 UTSW 6 100,614,033 (GRCm39) missense probably damaging 1.00
R1456:Shq1 UTSW 6 100,646,659 (GRCm39) critical splice donor site probably null
R1726:Shq1 UTSW 6 100,613,996 (GRCm39) missense probably benign 0.03
R2310:Shq1 UTSW 6 100,607,963 (GRCm39) nonsense probably null
R5038:Shq1 UTSW 6 100,607,954 (GRCm39) missense probably benign 0.29
R5053:Shq1 UTSW 6 100,632,220 (GRCm39) missense probably damaging 1.00
R5628:Shq1 UTSW 6 100,607,964 (GRCm39) missense probably damaging 0.98
R5750:Shq1 UTSW 6 100,588,775 (GRCm39) missense possibly damaging 0.67
R5817:Shq1 UTSW 6 100,550,681 (GRCm39) missense probably damaging 0.96
R6504:Shq1 UTSW 6 100,625,208 (GRCm39) missense probably benign 0.21
R7665:Shq1 UTSW 6 100,550,717 (GRCm39) missense probably damaging 1.00
R7710:Shq1 UTSW 6 100,648,006 (GRCm39) missense probably damaging 1.00
R7803:Shq1 UTSW 6 100,648,006 (GRCm39) missense probably damaging 1.00
R7992:Shq1 UTSW 6 100,613,972 (GRCm39) missense probably damaging 1.00
R8215:Shq1 UTSW 6 100,648,021 (GRCm39) start codon destroyed probably null 1.00
R9153:Shq1 UTSW 6 100,588,738 (GRCm39) missense probably damaging 1.00
R9346:Shq1 UTSW 6 100,641,431 (GRCm39) missense probably damaging 1.00
R9641:Shq1 UTSW 6 100,550,633 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTACAGGAAGCAGATGACATGC -3'
(R):5'- AACTGATCGTGTGCCTAGCG -3'

Sequencing Primer
(F):5'- CGTGAGGTCACCACGGATAG -3'
(R):5'- CCTAGCGGGGCTGTGTTG -3'
Posted On 2015-07-07