Incidental Mutation 'R5628:Shq1'
| ID |
441922 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shq1
|
| Ensembl Gene |
ENSMUSG00000035378 |
| Gene Name |
SHQ1 homolog (S. cerevisiae) |
| Synonyms |
2810403P18Rik, Grim-1 |
| MMRRC Submission |
043167-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R5628 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
100548772-100648135 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100607964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 316
(W316R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089245]
[ENSMUST00000113312]
[ENSMUST00000170667]
|
| AlphaFold |
Q7TMX5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089245
|
| SMART Domains |
Protein: ENSMUSP00000086656
Gene: ENSMUSG00000035378
| 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 damaging
Transcript: ENSMUST00000113312
AA Change: W316R
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108938
Gene: ENSMUSG00000035378
AA Change: W316R
| 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 damaging
Transcript: ENSMUST00000170667
AA Change: W316R
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127797
Gene: ENSMUSG00000035378
AA Change: W316R
| 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: ENSMUST00000203525
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
A |
G |
8: 41,208,747 (GRCm39) |
D671G |
probably benign |
Het |
| Ap3b1 |
A |
G |
13: 94,613,556 (GRCm39) |
D685G |
unknown |
Het |
| Atp6v1h |
G |
A |
1: 5,206,112 (GRCm39) |
W358* |
probably null |
Het |
| Atr |
T |
A |
9: 95,756,279 (GRCm39) |
Y830* |
probably null |
Het |
| B3galnt2 |
A |
T |
13: 14,169,737 (GRCm39) |
|
probably null |
Het |
| Casz1 |
T |
C |
4: 149,030,553 (GRCm39) |
Y1191H |
probably damaging |
Het |
| Cdc40 |
T |
G |
10: 40,727,049 (GRCm39) |
E169D |
probably benign |
Het |
| Cep55 |
C |
T |
19: 38,058,396 (GRCm39) |
Q330* |
probably null |
Het |
| Clcn1 |
T |
C |
6: 42,275,823 (GRCm39) |
V315A |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,226,218 (GRCm39) |
F2957L |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dync1li2 |
T |
C |
8: 105,147,224 (GRCm39) |
N490S |
possibly damaging |
Het |
| Ephb3 |
T |
C |
16: 21,036,869 (GRCm39) |
Y111H |
probably damaging |
Het |
| Fam186a |
A |
C |
15: 99,839,628 (GRCm39) |
H2205Q |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,877,392 (GRCm39) |
Y3407C |
probably damaging |
Het |
| Fbxw8 |
A |
G |
5: 118,230,622 (GRCm39) |
V393A |
probably damaging |
Het |
| Fnip1 |
A |
T |
11: 54,394,459 (GRCm39) |
D965V |
probably benign |
Het |
| Gramd2a |
T |
C |
9: 59,615,006 (GRCm39) |
M3T |
probably benign |
Het |
| Kctd15 |
T |
C |
7: 34,339,720 (GRCm39) |
D283G |
probably damaging |
Het |
| Kif9 |
C |
T |
9: 110,343,621 (GRCm39) |
R547* |
probably null |
Het |
| Map4 |
A |
G |
9: 109,910,915 (GRCm39) |
T245A |
probably benign |
Het |
| Mindy4 |
C |
T |
6: 55,237,579 (GRCm39) |
L385F |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,107,240 (GRCm39) |
C1252R |
probably benign |
Het |
| Myt1l |
T |
A |
12: 29,861,620 (GRCm39) |
I134N |
unknown |
Het |
| Or5m10b |
T |
A |
2: 85,699,149 (GRCm39) |
I71N |
probably damaging |
Het |
| Osgin2 |
T |
A |
4: 15,998,998 (GRCm39) |
N208I |
probably benign |
Het |
| Polr2b |
G |
A |
5: 77,461,063 (GRCm39) |
V29M |
probably damaging |
Het |
| Prdm15 |
T |
A |
16: 97,600,823 (GRCm39) |
M812L |
probably damaging |
Het |
| Prr36 |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
8: 4,266,273 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,698,963 (GRCm39) |
N1153K |
probably damaging |
Het |
| Rnf17 |
A |
G |
14: 56,724,409 (GRCm39) |
|
probably null |
Het |
| Rusc2 |
C |
T |
4: 43,425,348 (GRCm39) |
T1151M |
probably damaging |
Het |
| Scrib |
T |
C |
15: 75,921,389 (GRCm39) |
T30A |
possibly damaging |
Het |
| Sephs1 |
T |
C |
2: 4,894,018 (GRCm39) |
I73T |
probably benign |
Het |
| Sf3b1 |
C |
T |
1: 55,037,334 (GRCm39) |
A861T |
probably benign |
Het |
| Slc26a5 |
T |
A |
5: 22,021,974 (GRCm39) |
D484V |
probably benign |
Het |
| Smg1 |
C |
T |
7: 117,753,924 (GRCm39) |
|
probably benign |
Het |
| Stard5 |
T |
C |
7: 83,282,355 (GRCm39) |
I56T |
probably benign |
Het |
| Szt2 |
A |
G |
4: 118,230,414 (GRCm39) |
V2653A |
unknown |
Het |
| Tmem217 |
A |
T |
17: 29,745,430 (GRCm39) |
I100N |
probably damaging |
Het |
| Trpm2 |
C |
T |
10: 77,748,470 (GRCm39) |
R1400Q |
probably benign |
Het |
| Vmn1r82 |
T |
G |
7: 12,039,205 (GRCm39) |
N41K |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,675,247 (GRCm39) |
D367G |
probably damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,621,663 (GRCm39) |
V244E |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAAACTCGTGATTGCATCTTC -3'
(R):5'- ACTTGTGGGTTTTCAGTCACC -3'
Sequencing Primer
(F):5'- AAACTCGTGATTGCATCTTCACTTAC -3'
(R):5'- ATTTGTTGATGCAGTGTGAAGAATTC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation