Incidental Mutation 'IGL01580:Shq1'
ID91361
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: 0.951) question?
Stock #IGL01580
Quality Score
Status
Chromosome6
Chromosomal Location100568256-100671157 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 100573744 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 411 (S411L)
Ref Sequence ENSEMBL: ENSMUSP00000127797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089245] [ENSMUST00000113312] [ENSMUST00000170667]
Predicted Effect unknown
Transcript: ENSMUST00000089245
AA Change: S300L
SMART Domains Protein: ENSMUSP00000086656
Gene: ENSMUSG00000035378
AA Change: S300L

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 possibly damaging
Transcript: ENSMUST00000113312
AA Change: S411L

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108938
Gene: ENSMUSG00000035378
AA Change: S411L

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 possibly damaging
Transcript: ENSMUST00000170667
AA Change: S411L

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127797
Gene: ENSMUSG00000035378
AA Change: S411L

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
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,293,527 V1797I probably benign Het
Abi3bp A G 16: 56,675,210 E865G probably damaging Het
Ahnak A G 19: 9,002,839 T496A probably benign Het
BC030500 T C 8: 58,913,020 probably benign Het
Col6a4 A C 9: 106,068,198 Y906D probably damaging Het
Dip2c T G 13: 9,637,088 probably null Het
Frem2 A G 3: 53,655,175 I637T probably damaging Het
Guf1 T C 5: 69,565,421 probably benign Het
Htr1f G A 16: 64,925,835 R365* probably null Het
Olfr1123 A T 2: 87,418,536 I163F probably benign Het
Olfr686 T C 7: 105,203,906 I146V probably benign Het
Oog4 T C 4: 143,439,112 N155S probably benign Het
Phactr3 C A 2: 178,269,504 probably benign Het
Pi4k2b T C 5: 52,754,661 V300A possibly damaging Het
Pik3c2g A G 6: 139,622,516 D210G probably damaging Het
Pxdn A G 12: 29,984,493 T182A probably benign Het
Scn10a A G 9: 119,627,159 V1199A probably damaging Het
Scrn2 A G 11: 97,032,130 H133R probably benign Het
Tmcc1 A C 6: 116,042,985 V462G possibly damaging Het
Other mutations in Shq1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00471:Shq1 APN 6 100664483 missense probably benign 0.00
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
Posted On2013-12-09