Incidental Mutation 'IGL02125:Shq1'
ID280815
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: 0.955) question?
Stock #IGL02125
Quality Score
Status
Chromosome6
Chromosomal Location100568256-100671157 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 100631006 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 315 (T315A)
Ref Sequence ENSEMBL: ENSMUSP00000127797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089245] [ENSMUST00000113312] [ENSMUST00000170667]
Predicted Effect probably benign
Transcript: ENSMUST00000089245
SMART Domains Protein: ENSMUSP00000086656
Gene: ENSMUSG00000035378

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: T315A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000108938
Gene: ENSMUSG00000035378
AA Change: T315A

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 benign
Transcript: ENSMUST00000170667
AA Change: T315A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000127797
Gene: ENSMUSG00000035378
AA Change: T315A

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: ENSMUST00000203525
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700015F17Rik T C 5: 5,450,644 *151W probably null Het
Adam29 A T 8: 55,871,939 C493* probably null Het
Aldh16a1 G A 7: 45,146,035 P400L probably damaging Het
Ankrd12 A G 17: 65,970,144 probably benign Het
Anxa5 G A 3: 36,452,264 T213I probably damaging Het
Baz2b A G 2: 59,968,640 L380S probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cacna2d2 C T 9: 107,513,904 Q411* probably null Het
Cdh19 A G 1: 110,929,884 V240A possibly damaging Het
Cltc A T 11: 86,704,810 probably benign Het
Dclk3 T A 9: 111,469,107 V573E probably damaging Het
Dhx29 T C 13: 112,955,300 probably benign Het
Dip2b T C 15: 100,186,250 L918P possibly damaging Het
Dzip3 A T 16: 48,927,596 N1150K probably damaging Het
Fgf5 T C 5: 98,254,532 S41P possibly damaging Het
Galc A T 12: 98,231,509 Y120N probably damaging Het
Gldc T C 19: 30,147,241 N219S probably benign Het
Gm11563 A T 11: 99,658,805 V41E unknown Het
Gm597 T C 1: 28,776,338 N871S possibly damaging Het
Gpatch11 T A 17: 78,840,109 N106K probably benign Het
Gpx3 A G 11: 54,907,242 N68S probably damaging Het
Ibtk T C 9: 85,735,070 N150D probably damaging Het
Iglc2 G A 16: 19,198,712 P48S probably benign Het
Itih5 G A 2: 10,240,987 R629H probably benign Het
Kank1 T A 19: 25,410,703 V552E possibly damaging Het
Kmt2a T A 9: 44,848,686 H655L probably damaging Het
Mkl2 A G 16: 13,400,183 probably null Het
Mme A T 3: 63,348,649 N510I probably damaging Het
Obscn A G 11: 59,022,362 I6943T probably damaging Het
Obscn G T 11: 59,093,326 Q1768K possibly damaging Het
Olfr209 T C 16: 59,361,516 N234S probably benign Het
Olfr633 T A 7: 103,947,072 C169S probably damaging Het
Otud3 A T 4: 138,896,714 probably null Het
Parp4 A G 14: 56,590,502 K237E probably benign Het
Pfkfb4 C T 9: 109,025,110 R351W probably damaging Het
Rbbp6 T C 7: 122,971,129 probably null Het
Rdh16 G T 10: 127,811,319 probably benign Het
Ropn1 A G 16: 34,666,777 T28A probably benign Het
Sec24d T C 3: 123,358,958 V873A probably damaging Het
Serpinb3b T A 1: 107,154,744 L263F probably damaging Het
Slc13a4 T C 6: 35,278,288 E355G probably benign Het
Slc26a9 T C 1: 131,759,437 S445P probably damaging Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Slc4a10 A T 2: 62,268,171 M550L probably benign Het
Syt17 T C 7: 118,409,974 D341G probably benign Het
Tmem62 A G 2: 120,996,512 Y430C probably benign Het
Upp1 A G 11: 9,125,650 probably benign Het
Vmn1r91 T G 7: 20,101,504 V116G probably damaging Het
Vmn2r101 A T 17: 19,589,701 I250F possibly damaging Het
Vmn2r116 T G 17: 23,397,627 probably benign Het
Vmn2r72 C T 7: 85,750,711 V377I probably benign Het
Zfp592 G T 7: 81,038,184 A953S probably benign 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
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 On2015-04-16