Incidental Mutation 'R2210:Pus7l'
ID |
239331 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pus7l
|
Ensembl Gene |
ENSMUSG00000033356 |
Gene Name |
pseudouridylate synthase 7-like |
Synonyms |
3000003F02Rik |
MMRRC Submission |
040212-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2210 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
94420569-94441428 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 94438173 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 224
(D224A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044075
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049151]
[ENSMUST00000074936]
[ENSMUST00000109248]
[ENSMUST00000134061]
|
AlphaFold |
Q8CE46 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049151
AA Change: D224A
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000044075 Gene: ENSMUSG00000033356 AA Change: D224A
Domain | Start | End | E-Value | Type |
Pfam:TruD
|
280 |
697 |
1e-70 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000074936
|
SMART Domains |
Protein: ENSMUSP00000074471 Gene: ENSMUSG00000059883
Domain | Start | End | E-Value | Type |
PDB:1WH4|A
|
1 |
114 |
1e-78 |
PDB |
Pfam:Pkinase_Tyr
|
187 |
454 |
3.3e-53 |
PFAM |
Pfam:Pkinase
|
187 |
456 |
4.9e-53 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109248
|
SMART Domains |
Protein: ENSMUSP00000104871 Gene: ENSMUSG00000059883
Domain | Start | End | E-Value | Type |
Pfam:Death
|
20 |
101 |
1.6e-6 |
PFAM |
Pfam:Pkinase_Tyr
|
187 |
452 |
1.9e-51 |
PFAM |
Pfam:Pkinase
|
188 |
452 |
1.3e-54 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134061
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138306
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147832
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210016L21Rik |
C |
G |
5: 115,080,348 (GRCm39) |
R28G |
probably damaging |
Het |
Adgrb1 |
C |
T |
15: 74,419,553 (GRCm39) |
A798V |
probably damaging |
Het |
Ash1l |
G |
T |
3: 88,973,605 (GRCm39) |
D2555Y |
probably damaging |
Het |
Atr |
G |
A |
9: 95,789,353 (GRCm39) |
R1503Q |
probably damaging |
Het |
Cbln3 |
T |
A |
14: 56,121,383 (GRCm39) |
I88F |
possibly damaging |
Het |
Cct7 |
G |
A |
6: 85,436,212 (GRCm39) |
G41D |
probably damaging |
Het |
Cd1d2 |
G |
T |
3: 86,895,041 (GRCm39) |
A138S |
possibly damaging |
Het |
Dct |
T |
C |
14: 118,280,561 (GRCm39) |
I152V |
probably benign |
Het |
Dgkq |
C |
A |
5: 108,808,389 (GRCm39) |
R58L |
probably damaging |
Het |
Emc10 |
G |
A |
7: 44,142,616 (GRCm39) |
R109W |
probably damaging |
Het |
Gm4884 |
A |
T |
7: 40,692,970 (GRCm39) |
E313V |
possibly damaging |
Het |
Hectd1 |
A |
T |
12: 51,853,245 (GRCm39) |
I92K |
probably damaging |
Het |
Icam1 |
A |
G |
9: 20,930,329 (GRCm39) |
E61G |
probably damaging |
Het |
Itgb2l |
C |
T |
16: 96,227,421 (GRCm39) |
V541M |
possibly damaging |
Het |
Lmtk2 |
A |
G |
5: 144,084,427 (GRCm39) |
E154G |
probably damaging |
Het |
Majin |
C |
A |
19: 6,272,728 (GRCm39) |
H223N |
possibly damaging |
Het |
Mc4r |
A |
T |
18: 66,992,466 (GRCm39) |
F216I |
probably damaging |
Het |
Muc4 |
AG |
AGG |
16: 32,755,176 (GRCm38) |
|
probably null |
Het |
Obscn |
A |
T |
11: 58,958,913 (GRCm39) |
V3379D |
probably damaging |
Het |
Or8g30 |
A |
T |
9: 39,230,089 (GRCm39) |
S274T |
probably damaging |
Het |
Pde4b |
A |
T |
4: 102,454,672 (GRCm39) |
N346I |
probably damaging |
Het |
Pitpnm1 |
T |
C |
19: 4,155,253 (GRCm39) |
S331P |
probably damaging |
Het |
Plcb2 |
T |
A |
2: 118,547,984 (GRCm39) |
I437F |
probably damaging |
Het |
Pramel14 |
T |
A |
4: 143,720,789 (GRCm39) |
M51L |
probably benign |
Het |
Prr12 |
A |
G |
7: 44,698,775 (GRCm39) |
|
probably benign |
Het |
Sh3pxd2a |
A |
G |
19: 47,255,782 (GRCm39) |
S1007P |
possibly damaging |
Het |
Stac |
G |
A |
9: 111,431,638 (GRCm39) |
P238S |
probably damaging |
Het |
Tmem107 |
A |
G |
11: 68,962,096 (GRCm39) |
E45G |
possibly damaging |
Het |
Tmt1b |
T |
A |
10: 128,794,591 (GRCm39) |
K244N |
probably damaging |
Het |
Triml2 |
T |
C |
8: 43,636,397 (GRCm39) |
Y61H |
probably damaging |
Het |
Uba2 |
T |
C |
7: 33,862,587 (GRCm39) |
D95G |
probably damaging |
Het |
Ube2d3 |
T |
A |
3: 135,168,802 (GRCm39) |
D132E |
probably benign |
Het |
Unc5d |
A |
G |
8: 29,251,825 (GRCm39) |
I216T |
probably damaging |
Het |
|
Other mutations in Pus7l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01713:Pus7l
|
APN |
15 |
94,429,493 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02049:Pus7l
|
APN |
15 |
94,438,059 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02484:Pus7l
|
APN |
15 |
94,427,369 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL02731:Pus7l
|
APN |
15 |
94,421,345 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03252:Pus7l
|
APN |
15 |
94,423,691 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03392:Pus7l
|
APN |
15 |
94,434,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R0638:Pus7l
|
UTSW |
15 |
94,421,298 (GRCm39) |
missense |
probably benign |
0.20 |
R0848:Pus7l
|
UTSW |
15 |
94,438,393 (GRCm39) |
missense |
probably benign |
0.16 |
R1646:Pus7l
|
UTSW |
15 |
94,431,517 (GRCm39) |
missense |
probably benign |
0.33 |
R1785:Pus7l
|
UTSW |
15 |
94,438,518 (GRCm39) |
missense |
probably benign |
0.04 |
R2046:Pus7l
|
UTSW |
15 |
94,438,666 (GRCm39) |
missense |
probably benign |
0.01 |
R2206:Pus7l
|
UTSW |
15 |
94,421,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R3618:Pus7l
|
UTSW |
15 |
94,425,788 (GRCm39) |
missense |
probably damaging |
0.97 |
R4485:Pus7l
|
UTSW |
15 |
94,421,371 (GRCm39) |
missense |
probably benign |
0.00 |
R4487:Pus7l
|
UTSW |
15 |
94,429,498 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4686:Pus7l
|
UTSW |
15 |
94,438,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R4739:Pus7l
|
UTSW |
15 |
94,438,591 (GRCm39) |
missense |
probably benign |
0.02 |
R4975:Pus7l
|
UTSW |
15 |
94,427,369 (GRCm39) |
missense |
possibly damaging |
0.70 |
R5431:Pus7l
|
UTSW |
15 |
94,427,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R5567:Pus7l
|
UTSW |
15 |
94,425,746 (GRCm39) |
missense |
probably benign |
0.00 |
R5570:Pus7l
|
UTSW |
15 |
94,425,746 (GRCm39) |
missense |
probably benign |
0.00 |
R5896:Pus7l
|
UTSW |
15 |
94,427,332 (GRCm39) |
splice site |
probably null |
|
R6408:Pus7l
|
UTSW |
15 |
94,429,456 (GRCm39) |
missense |
probably benign |
0.06 |
R6681:Pus7l
|
UTSW |
15 |
94,425,746 (GRCm39) |
missense |
probably benign |
0.00 |
R7344:Pus7l
|
UTSW |
15 |
94,438,498 (GRCm39) |
missense |
probably benign |
0.01 |
R7811:Pus7l
|
UTSW |
15 |
94,438,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R8412:Pus7l
|
UTSW |
15 |
94,425,856 (GRCm39) |
missense |
probably benign |
0.44 |
R8833:Pus7l
|
UTSW |
15 |
94,438,143 (GRCm39) |
missense |
probably damaging |
0.98 |
R9177:Pus7l
|
UTSW |
15 |
94,431,445 (GRCm39) |
missense |
probably benign |
0.00 |
R9268:Pus7l
|
UTSW |
15 |
94,431,445 (GRCm39) |
missense |
probably benign |
0.00 |
R9503:Pus7l
|
UTSW |
15 |
94,438,666 (GRCm39) |
missense |
probably benign |
0.01 |
R9525:Pus7l
|
UTSW |
15 |
94,438,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R9526:Pus7l
|
UTSW |
15 |
94,425,781 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Pus7l
|
UTSW |
15 |
94,438,654 (GRCm39) |
missense |
possibly damaging |
0.87 |
X0066:Pus7l
|
UTSW |
15 |
94,427,374 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTCCGGGTGAGATCTCTTC -3'
(R):5'- TGAATTGTCCCTAGGCAAGATCC -3'
Sequencing Primer
(F):5'- GTGAGATCTCTTCCCGCGTG -3'
(R):5'- CTTGACAAAAACCGCAGAGCTG -3'
|
Posted On |
2014-10-15 |