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)
|
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*
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 null
Transcript: ENSMUST00000113312
AA Change: E455*
|
SMART Domains |
Protein: ENSMUSP00000108938 Gene: ENSMUSG00000035378 AA Change: E455*
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 |
probably null
Transcript: ENSMUST00000170667
AA Change: E455*
|
SMART Domains |
Protein: ENSMUSP00000127797 Gene: ENSMUSG00000035378 AA Change: E455*
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 |
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |