Incidental Mutation 'IGL00471:Shq1'
ID5398
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shq1
Ensembl Gene ENSMUSG00000035378
Gene NameSHQ1 homolog (S. cerevisiae)
Synonyms2810403P18Rik, Grim-1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.957) question?
Stock #IGL00471
Quality Score
Status
Chromosome6
Chromosomal Location100568256-100671157 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 100664483 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 146 (S146P)
Ref Sequence ENSEMBL: ENSMUSP00000127797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089245] [ENSMUST00000113312] [ENSMUST00000170667]
Predicted Effect probably benign
Transcript: ENSMUST00000089245
AA Change: S146P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000086656
Gene: ENSMUSG00000035378
AA Change: S146P

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 benign
Transcript: ENSMUST00000113312
AA Change: S146P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108938
Gene: ENSMUSG00000035378
AA Change: S146P

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 benign
Transcript: ENSMUST00000170667
AA Change: S146P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000127797
Gene: ENSMUSG00000035378
AA Change: S146P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204269
Coding Region Coverage
Validation Efficiency
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,509,542 V2793A probably damaging Het
Agbl2 A G 2: 90,801,045 Y249C probably damaging Het
Anks1 T C 17: 28,058,416 S1082P possibly damaging Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
C4b T G 17: 34,734,429 T1027P probably damaging Het
Clec4d A T 6: 123,274,773 I205F probably damaging Het
Cpeb2 A T 5: 43,285,831 Y955F probably damaging Het
Cst13 T A 2: 148,830,304 M133K probably damaging Het
Dnah10 T C 5: 124,794,341 L2418P probably damaging Het
Gli3 T C 13: 15,723,769 probably null Het
Hgfac C A 5: 35,046,526 H463N probably damaging Het
Hlx A T 1: 184,731,595 F183I probably damaging Het
Ighv1-5 T G 12: 114,513,473 I70L probably benign Het
Ltbp2 T C 12: 84,791,064 T1181A probably damaging Het
Morn1 A C 4: 155,092,328 K140Q possibly damaging Het
Nek1 A T 8: 61,043,284 M358L probably benign Het
Pcbd2 C T 13: 55,776,600 probably benign Het
Pramel7 A T 2: 87,491,085 L202Q probably damaging Het
Slc25a21 T C 12: 56,718,137 probably null Het
Slc26a7 A T 4: 14,548,403 probably benign Het
Sspo G A 6: 48,498,213 probably benign Het
Stam2 T C 2: 52,720,935 D25G probably damaging Het
Tbx18 A T 9: 87,705,623 D480E possibly damaging Het
Tmem26 A T 10: 68,778,681 I309F possibly damaging Het
Ube2c A G 2: 164,771,293 T44A probably benign Het
Other mutations in Shq1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01580:Shq1 APN 6 100573744 missense possibly damaging 0.94
IGL02125:Shq1 APN 6 100631006 missense probably benign 0.00
IGL02401:Shq1 APN 6 100648247 missense probably damaging 1.00
IGL02811:Shq1 APN 6 100630984 missense probably damaging 0.98
IGL03112:Shq1 APN 6 100573613 nonsense probably null
R0309:Shq1 UTSW 6 100573627 missense probably benign 0.01
R1163:Shq1 UTSW 6 100637072 missense probably damaging 1.00
R1456:Shq1 UTSW 6 100669698 critical splice donor site probably null
R1726:Shq1 UTSW 6 100637035 missense probably benign 0.03
R2310:Shq1 UTSW 6 100631002 nonsense probably null
R4428:Shq1 UTSW 6 100670928 missense probably damaging 1.00
R5038:Shq1 UTSW 6 100630993 missense probably benign 0.29
R5053:Shq1 UTSW 6 100655259 missense probably damaging 1.00
R5628:Shq1 UTSW 6 100631003 missense probably damaging 0.98
R5750:Shq1 UTSW 6 100611814 missense possibly damaging 0.67
R5817:Shq1 UTSW 6 100573720 missense probably damaging 0.96
R6504:Shq1 UTSW 6 100648247 missense probably benign 0.21
R7665:Shq1 UTSW 6 100573756 missense probably damaging 1.00
R7710:Shq1 UTSW 6 100671045 missense probably damaging 1.00
R7803:Shq1 UTSW 6 100671045 missense probably damaging 1.00
Posted On2012-04-20