Incidental Mutation 'IGL03112:Shq1'
ID419248
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 #IGL03112
Quality Score
Status
Chromosome6
Chromosomal Location100568256-100671157 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 100573613 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 455 (E455*)
Ref Sequence ENSEMBL: ENSMUSP00000127797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089245] [ENSMUST00000113312] [ENSMUST00000170667]
Predicted Effect probably null
Transcript: ENSMUST00000089245
AA Change: E344*
SMART Domains Protein: ENSMUSP00000086656
Gene: ENSMUSG00000035378
AA Change: E344*

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 null
Transcript: ENSMUST00000113312
AA Change: E455*
SMART Domains Protein: ENSMUSP00000108938
Gene: ENSMUSG00000035378
AA Change: E455*

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 probably null
Transcript: ENSMUST00000170667
AA Change: E455*
SMART Domains Protein: ENSMUSP00000127797
Gene: ENSMUSG00000035378
AA Change: E455*

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b T C 8: 43,521,512 N151S probably benign Het
Adgre1 G A 17: 57,448,029 probably null Het
AI481877 G T 4: 59,049,355 Q1069K probably benign Het
Apol11a T A 15: 77,517,309 L332Q probably damaging Het
B430306N03Rik C T 17: 48,316,806 S45L probably benign Het
Cend1 G A 7: 141,427,727 T60M probably benign Het
Col6a3 C A 1: 90,811,520 E329* probably null Het
Col9a3 A G 2: 180,607,642 R266G possibly damaging Het
Defb48 C T 14: 62,984,405 probably benign Het
Eps8l2 T G 7: 141,361,736 L640R probably damaging Het
Exoc2 T A 13: 30,906,587 probably benign Het
Fam149a C T 8: 45,348,543 V514M possibly damaging Het
Fbxo25 A T 8: 13,921,034 D74V probably benign Het
Gm11733 A G 11: 117,487,140 *126W probably null Het
Grm8 C T 6: 27,363,263 C751Y probably damaging Het
Kctd16 A T 18: 40,258,800 D147V probably benign Het
Lclat1 A T 17: 73,239,747 T220S probably damaging Het
Lgi1 T A 19: 38,284,030 H116Q possibly damaging Het
Lrrc40 G A 3: 158,041,665 probably benign Het
Lsm4 T A 8: 70,678,006 I60N probably damaging Het
Morn1 T A 4: 155,093,144 Y178N probably damaging Het
Mybl2 A G 2: 163,062,536 E89G probably damaging Het
Myo18b T C 5: 112,873,990 E512G probably benign Het
Myrfl A T 10: 116,803,406 S583T probably benign Het
Nek6 A G 2: 38,560,902 I106V probably damaging Het
Oas1a A T 5: 120,898,349 D338E possibly damaging Het
Olfr1113 T A 2: 87,213,600 I236N probably damaging Het
Olfr1249 G A 2: 89,630,334 T188I probably benign Het
Olfr802 A G 10: 129,681,923 V272A probably benign Het
Pitrm1 C A 13: 6,565,008 Q508K probably benign Het
S100b A G 10: 76,259,974 D62G probably damaging Het
Sesn3 A G 9: 14,310,261 H119R probably damaging Het
Sez6l T A 5: 112,473,467 E247V probably damaging Het
Slc9b1 T A 3: 135,397,672 M521K probably damaging Het
Supt16 A G 14: 52,176,398 F543L probably damaging Het
Tcf25 T C 8: 123,382,519 probably benign Het
Usp48 C A 4: 137,608,064 Q183K probably damaging Het
Vmn1r178 G A 7: 23,893,661 G45S probably damaging Het
Vmn1r237 T A 17: 21,314,106 Y30* probably null Het
Other mutations in Shq1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00471:Shq1 APN 6 100664483 missense probably benign 0.00
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
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
Posted On2016-08-02