Incidental Mutation 'R2310:Shq1'
| ID |
244740 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shq1
|
| Ensembl Gene |
ENSMUSG00000035378 |
| Gene Name |
SHQ1 homolog (S. cerevisiae) |
| Synonyms |
2810403P18Rik, Grim-1 |
| MMRRC Submission |
040309-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R2310 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
100548772-100648135 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 100607963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 316
(W316*)
|
| 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 null
Transcript: ENSMUST00000113312
AA Change: W316*
|
| SMART Domains |
Protein: ENSMUSP00000108938
Gene: ENSMUSG00000035378
AA Change: W316*
| 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: W316*
|
| SMART Domains |
Protein: ENSMUSP00000127797
Gene: ENSMUSG00000035378
AA Change: W316*
| 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
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.5%
|
| Validation Efficiency |
100% (39/39) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef10l |
A |
C |
4: 140,320,429 (GRCm39) |
C136W |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,624,988 (GRCm39) |
H1625Q |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cpa3 |
C |
T |
3: 20,281,387 (GRCm39) |
C173Y |
probably damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,081,826 (GRCm39) |
T451A |
probably benign |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Efhd1 |
T |
C |
1: 87,192,350 (GRCm39) |
L60P |
probably damaging |
Het |
| Flrt2 |
A |
G |
12: 95,746,864 (GRCm39) |
T401A |
probably benign |
Het |
| Frmd4a |
GAA |
G |
2: 4,577,210 (GRCm39) |
|
probably null |
Het |
| Gas2l2 |
A |
G |
11: 83,318,265 (GRCm39) |
V148A |
possibly damaging |
Het |
| Golga5 |
A |
G |
12: 102,458,420 (GRCm39) |
E621G |
probably damaging |
Het |
| Gsap |
A |
T |
5: 21,401,088 (GRCm39) |
R74* |
probably null |
Het |
| Intu |
C |
T |
3: 40,608,243 (GRCm39) |
A85V |
probably benign |
Het |
| Kansl3 |
T |
A |
1: 36,382,445 (GRCm39) |
I860F |
probably damaging |
Het |
| Kif23 |
A |
G |
9: 61,831,426 (GRCm39) |
S715P |
probably damaging |
Het |
| Map3k8 |
A |
T |
18: 4,349,001 (GRCm39) |
C106S |
probably benign |
Het |
| Mcc |
T |
C |
18: 44,564,433 (GRCm39) |
E934G |
probably damaging |
Het |
| Mrpl19 |
A |
T |
6: 81,941,054 (GRCm39) |
|
probably null |
Het |
| Msl3l2 |
C |
A |
10: 55,991,421 (GRCm39) |
R49S |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,217,444 (GRCm39) |
I2410F |
possibly damaging |
Het |
| Or2t6 |
A |
G |
14: 14,175,836 (GRCm38) |
V82A |
probably benign |
Het |
| Or4a73 |
A |
G |
2: 89,420,794 (GRCm39) |
S222P |
probably damaging |
Het |
| Pip5k1c |
T |
G |
10: 81,142,142 (GRCm39) |
S117R |
probably damaging |
Het |
| Ppfia2 |
T |
C |
10: 106,690,841 (GRCm39) |
S561P |
probably damaging |
Het |
| Pramel13 |
A |
T |
4: 144,119,475 (GRCm39) |
|
probably null |
Het |
| Rassf5 |
A |
T |
1: 131,172,477 (GRCm39) |
W131R |
probably damaging |
Het |
| Slc45a4 |
A |
G |
15: 73,461,409 (GRCm39) |
Y87H |
probably damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,768,963 (GRCm39) |
D32G |
probably benign |
Het |
| Tjp1 |
C |
T |
7: 64,979,490 (GRCm39) |
R345Q |
possibly damaging |
Het |
| Tnrc18 |
C |
G |
5: 142,774,308 (GRCm39) |
V174L |
probably damaging |
Het |
| Trmt6 |
G |
T |
2: 132,650,832 (GRCm39) |
P259T |
probably damaging |
Het |
| Ubap1 |
T |
A |
4: 41,379,341 (GRCm39) |
V185E |
possibly damaging |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,204,053 (GRCm39) |
T1979A |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,356,591 (GRCm39) |
D3784G |
probably benign |
Het |
| Zfp119a |
A |
T |
17: 56,172,440 (GRCm39) |
Y468N |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAAACTCGTGATTGCATCTTCAC -3'
(R):5'- CACTTGTGGGTTTTCAGTCACC -3'
Sequencing Primer
(F):5'- TGTCTCGGTAGGCTTTCA -3'
(R):5'- TGTTGATGCAGTGTGAAGAATTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation