Incidental Mutation 'IGL00471:Shq1'
ID |
5398 |
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)
|
Stock # |
IGL00471
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
100548772-100648135 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 100641444 bp (GRCm39)
|
Zygosity |
Heterozygous |
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]
|
AlphaFold |
Q7TMX5 |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
G |
13: 81,657,661 (GRCm39) |
V2793A |
probably damaging |
Het |
Agbl2 |
A |
G |
2: 90,631,389 (GRCm39) |
Y249C |
probably damaging |
Het |
Anks1 |
T |
C |
17: 28,277,390 (GRCm39) |
S1082P |
possibly damaging |
Het |
Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
C4b |
T |
G |
17: 34,953,403 (GRCm39) |
T1027P |
probably damaging |
Het |
Clec4d |
A |
T |
6: 123,251,732 (GRCm39) |
I205F |
probably damaging |
Het |
Cpeb2 |
A |
T |
5: 43,443,174 (GRCm39) |
Y955F |
probably damaging |
Het |
Cst13 |
T |
A |
2: 148,672,224 (GRCm39) |
M133K |
probably damaging |
Het |
Dnah10 |
T |
C |
5: 124,871,405 (GRCm39) |
L2418P |
probably damaging |
Het |
Gli3 |
T |
C |
13: 15,898,354 (GRCm39) |
|
probably null |
Het |
Hgfac |
C |
A |
5: 35,203,870 (GRCm39) |
H463N |
probably damaging |
Het |
Hlx |
A |
T |
1: 184,463,792 (GRCm39) |
F183I |
probably damaging |
Het |
Ighv1-5 |
T |
G |
12: 114,477,093 (GRCm39) |
I70L |
probably benign |
Het |
Ltbp2 |
T |
C |
12: 84,837,838 (GRCm39) |
T1181A |
probably damaging |
Het |
Morn1 |
A |
C |
4: 155,176,785 (GRCm39) |
K140Q |
possibly damaging |
Het |
Nek1 |
A |
T |
8: 61,496,318 (GRCm39) |
M358L |
probably benign |
Het |
Pcbd2 |
C |
T |
13: 55,924,413 (GRCm39) |
|
probably benign |
Het |
Pramel7 |
A |
T |
2: 87,321,429 (GRCm39) |
L202Q |
probably damaging |
Het |
Slc25a21 |
T |
C |
12: 56,764,922 (GRCm39) |
|
probably null |
Het |
Slc26a7 |
A |
T |
4: 14,548,403 (GRCm39) |
|
probably benign |
Het |
Sspo |
G |
A |
6: 48,475,147 (GRCm39) |
|
probably benign |
Het |
Stam2 |
T |
C |
2: 52,610,947 (GRCm39) |
D25G |
probably damaging |
Het |
Tbx18 |
A |
T |
9: 87,587,676 (GRCm39) |
D480E |
possibly damaging |
Het |
Tmem26 |
A |
T |
10: 68,614,511 (GRCm39) |
I309F |
possibly damaging |
Het |
Ube2c |
A |
G |
2: 164,613,213 (GRCm39) |
T44A |
probably benign |
Het |
|
Other mutations in Shq1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL03112:Shq1
|
APN |
6 |
100,550,574 (GRCm39) |
nonsense |
probably null |
|
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 |
2012-04-20 |