Incidental Mutation 'IGL03112:Shq1'
ID 419248
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shq1
Ensembl Gene ENSMUSG00000035378
Gene Name SHQ1 homolog (S. cerevisiae)
Synonyms 2810403P18Rik, Grim-1
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # IGL03112
Quality Score
Status
Chromosome 6
Chromosomal Location 100548772-100648135 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 100550574 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q7TMX5
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: 43,974,549 (GRCm39) N151S probably benign Het
Adgre1 G A 17: 57,755,029 (GRCm39) probably null Het
Apol11a T A 15: 77,401,509 (GRCm39) L332Q probably damaging Het
B430306N03Rik C T 17: 48,623,834 (GRCm39) S45L probably benign Het
Cend1 G A 7: 141,007,640 (GRCm39) T60M probably benign Het
Col6a3 C A 1: 90,739,242 (GRCm39) E329* probably null Het
Col9a3 A G 2: 180,249,435 (GRCm39) R266G possibly damaging Het
Defb48 C T 14: 63,221,854 (GRCm39) probably benign Het
Eps8l2 T G 7: 140,941,649 (GRCm39) L640R probably damaging Het
Exoc2 T A 13: 31,090,570 (GRCm39) probably benign Het
Fam149a C T 8: 45,801,580 (GRCm39) V514M possibly damaging Het
Fbxo25 A T 8: 13,971,034 (GRCm39) D74V probably benign Het
Gm11733 A G 11: 117,377,966 (GRCm39) *126W probably null Het
Grm8 C T 6: 27,363,262 (GRCm39) C751Y probably damaging Het
Kctd16 A T 18: 40,391,853 (GRCm39) D147V probably benign Het
Lclat1 A T 17: 73,546,742 (GRCm39) T220S probably damaging Het
Lgi1 T A 19: 38,272,478 (GRCm39) H116Q possibly damaging Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Lsm4 T A 8: 71,130,656 (GRCm39) I60N probably damaging Het
Morn1 T A 4: 155,177,601 (GRCm39) Y178N probably damaging Het
Mybl2 A G 2: 162,904,456 (GRCm39) E89G probably damaging Het
Myo18b T C 5: 113,021,856 (GRCm39) E512G probably benign Het
Myrfl A T 10: 116,639,311 (GRCm39) S583T probably benign Het
Nek6 A G 2: 38,450,914 (GRCm39) I106V probably damaging Het
Oas1a A T 5: 121,036,412 (GRCm39) D338E possibly damaging Het
Or10ag52 T A 2: 87,043,944 (GRCm39) I236N probably damaging Het
Or4a76 G A 2: 89,460,678 (GRCm39) T188I probably benign Het
Or6c1 A G 10: 129,517,792 (GRCm39) V272A probably benign Het
Pitrm1 C A 13: 6,615,044 (GRCm39) Q508K probably benign Het
S100b A G 10: 76,095,808 (GRCm39) D62G probably damaging Het
Sesn3 A G 9: 14,221,557 (GRCm39) H119R probably damaging Het
Sez6l T A 5: 112,621,333 (GRCm39) E247V probably damaging Het
Shoc1 G T 4: 59,049,355 (GRCm39) Q1069K probably benign Het
Slc9b1 T A 3: 135,103,433 (GRCm39) M521K probably damaging Het
Supt16 A G 14: 52,413,855 (GRCm39) F543L probably damaging Het
Tcf25 T C 8: 124,109,258 (GRCm39) probably benign Het
Usp48 C A 4: 137,335,375 (GRCm39) Q183K probably damaging Het
Vmn1r178 G A 7: 23,593,086 (GRCm39) G45S probably damaging Het
Vmn1r237 T A 17: 21,534,368 (GRCm39) Y30* probably null 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
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
R4428:Shq1 UTSW 6 100,647,889 (GRCm39) missense probably damaging 1.00
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
Posted On 2016-08-02