Incidental Mutation 'R4428:Shq1'
ID |
328272 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shq1
|
Ensembl Gene |
ENSMUSG00000035378 |
Gene Name |
SHQ1 homolog (S. cerevisiae) |
Synonyms |
2810403P18Rik, Grim-1 |
MMRRC Submission |
041698-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R4428 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
100548772-100648135 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 100647889 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 45
(Y45C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127797
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089245]
[ENSMUST00000113312]
[ENSMUST00000170667]
|
AlphaFold |
Q7TMX5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000089245
AA Change: Y45C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000086656 Gene: ENSMUSG00000035378 AA Change: Y45C
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: Y45C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108938 Gene: ENSMUSG00000035378 AA Change: Y45C
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 damaging
Transcript: ENSMUST00000170667
AA Change: Y45C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127797 Gene: ENSMUSG00000035378 AA Change: Y45C
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 |
|
Meta Mutation Damage Score |
0.9241 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (46/46) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
Abcc1 |
T |
A |
16: 14,263,164 (GRCm39) |
V708E |
probably damaging |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Ccdc18 |
A |
G |
5: 108,283,943 (GRCm39) |
Y82C |
probably benign |
Het |
Cd82 |
T |
C |
2: 93,250,214 (GRCm39) |
Y266C |
probably damaging |
Het |
Chrna4 |
A |
G |
2: 180,670,413 (GRCm39) |
S448P |
probably damaging |
Het |
Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
Cmpk1 |
T |
C |
4: 114,820,559 (GRCm39) |
E180G |
probably benign |
Het |
Dock8 |
T |
C |
19: 25,177,863 (GRCm39) |
I2066T |
probably damaging |
Het |
Dock8 |
T |
C |
19: 25,042,754 (GRCm39) |
V112A |
probably benign |
Het |
Fgf3 |
T |
C |
7: 144,394,444 (GRCm39) |
V86A |
probably damaging |
Het |
Frem2 |
A |
G |
3: 53,561,759 (GRCm39) |
I916T |
probably benign |
Het |
Gsk3b |
T |
A |
16: 38,014,298 (GRCm39) |
L252Q |
probably damaging |
Het |
Kif18a |
A |
G |
2: 109,118,466 (GRCm39) |
T94A |
probably damaging |
Het |
Klhdc1 |
T |
A |
12: 69,315,000 (GRCm39) |
|
probably benign |
Het |
Klhl25 |
T |
A |
7: 75,515,162 (GRCm39) |
F23I |
probably damaging |
Het |
Mapk7 |
T |
C |
11: 61,380,055 (GRCm39) |
D701G |
possibly damaging |
Het |
Mbd5 |
A |
T |
2: 49,169,776 (GRCm39) |
Q47L |
possibly damaging |
Het |
Nrcam |
A |
G |
12: 44,623,558 (GRCm39) |
D1049G |
possibly damaging |
Het |
Olfml2a |
G |
T |
2: 38,831,755 (GRCm39) |
M111I |
probably damaging |
Het |
Or3a1c |
T |
C |
11: 74,046,025 (GRCm39) |
F15S |
probably damaging |
Het |
Pld2 |
A |
T |
11: 70,432,160 (GRCm39) |
H93L |
probably damaging |
Het |
Pomgnt2 |
T |
C |
9: 121,811,320 (GRCm39) |
E487G |
possibly damaging |
Het |
Psg17 |
G |
T |
7: 18,550,717 (GRCm39) |
N379K |
probably benign |
Het |
Rfk |
T |
A |
19: 17,375,959 (GRCm39) |
H84Q |
possibly damaging |
Het |
Scn8a |
A |
G |
15: 100,881,784 (GRCm39) |
Y617C |
probably damaging |
Het |
Sema3d |
T |
C |
5: 12,498,087 (GRCm39) |
F31S |
probably benign |
Het |
Siglecg |
C |
T |
7: 43,067,350 (GRCm39) |
P639L |
possibly damaging |
Het |
Skp2 |
A |
T |
15: 9,117,034 (GRCm39) |
N325K |
probably benign |
Het |
Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
Sp8 |
T |
A |
12: 118,812,938 (GRCm39) |
S264R |
possibly damaging |
Het |
Sun1 |
T |
C |
5: 139,220,230 (GRCm39) |
|
probably benign |
Het |
Tardbp |
A |
G |
4: 148,709,659 (GRCm39) |
V54A |
possibly damaging |
Het |
Tert |
T |
A |
13: 73,775,594 (GRCm39) |
F115Y |
probably damaging |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tmem68 |
A |
T |
4: 3,569,534 (GRCm39) |
I52K |
probably benign |
Het |
Trhde |
A |
T |
10: 114,339,028 (GRCm39) |
L594Q |
probably damaging |
Het |
Umps |
A |
C |
16: 33,781,956 (GRCm39) |
V322G |
probably damaging |
Het |
Vmn2r109 |
T |
C |
17: 20,773,286 (GRCm39) |
D445G |
probably benign |
Het |
Vmn2r22 |
T |
C |
6: 123,614,817 (GRCm39) |
T258A |
possibly damaging |
Het |
Vmn2r4 |
C |
T |
3: 64,322,590 (GRCm39) |
G43E |
probably damaging |
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 |
|
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'- CTACAGGAAGCAGATGACATGC -3'
(R):5'- AACTGATCGTGTGCCTAGCG -3'
Sequencing Primer
(F):5'- CGTGAGGTCACCACGGATAG -3'
(R):5'- CCTAGCGGGGCTGTGTTG -3'
|
Posted On |
2015-07-07 |