Incidental Mutation 'R4485:Pus7l'
ID |
331591 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pus7l
|
Ensembl Gene |
ENSMUSG00000033356 |
Gene Name |
pseudouridylate synthase 7-like |
Synonyms |
3000003F02Rik |
MMRRC Submission |
041741-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4485 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
94420569-94441428 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 94421371 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 646
(H646Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044075
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049151]
|
AlphaFold |
Q8CE46 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049151
AA Change: H646Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000044075 Gene: ENSMUSG00000033356 AA Change: H646Q
Domain | Start | End | E-Value | Type |
Pfam:TruD
|
280 |
697 |
1e-70 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agxt2 |
A |
T |
15: 10,378,968 (GRCm39) |
I190L |
possibly damaging |
Het |
Ahnak2 |
A |
G |
12: 112,745,944 (GRCm39) |
|
probably benign |
Het |
Apol7b |
C |
A |
15: 77,307,866 (GRCm39) |
V210L |
probably benign |
Het |
Banf2 |
C |
T |
2: 143,915,772 (GRCm39) |
T71M |
probably damaging |
Het |
Cacna1s |
A |
G |
1: 136,004,590 (GRCm39) |
D130G |
probably damaging |
Het |
Capn8 |
T |
C |
1: 182,426,306 (GRCm39) |
F214L |
possibly damaging |
Het |
Ccdc168 |
A |
G |
1: 44,099,283 (GRCm39) |
L605S |
probably benign |
Het |
Cdk5rap2 |
A |
T |
4: 70,157,520 (GRCm39) |
|
probably null |
Het |
Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
Cpb1 |
T |
G |
3: 20,303,865 (GRCm39) |
M400L |
probably benign |
Het |
Eps15l1 |
A |
T |
8: 73,153,531 (GRCm39) |
I52N |
possibly damaging |
Het |
Gbp9 |
C |
G |
5: 105,231,674 (GRCm39) |
G304A |
probably damaging |
Het |
Gm14226 |
G |
A |
2: 154,867,191 (GRCm39) |
V383I |
probably benign |
Het |
Itprid1 |
A |
G |
6: 55,864,051 (GRCm39) |
T126A |
probably benign |
Het |
Npm2 |
A |
T |
14: 70,885,749 (GRCm39) |
V152D |
possibly damaging |
Het |
Nsd1 |
T |
C |
13: 55,393,434 (GRCm39) |
V345A |
probably benign |
Het |
Or56a3 |
T |
A |
7: 104,735,808 (GRCm39) |
V295D |
probably damaging |
Het |
Or5b107 |
T |
C |
19: 13,142,855 (GRCm39) |
V159A |
possibly damaging |
Het |
Or5b118 |
T |
C |
19: 13,448,919 (GRCm39) |
I195T |
probably benign |
Het |
Or5p58 |
T |
C |
7: 107,694,222 (GRCm39) |
D185G |
probably benign |
Het |
Otof |
T |
A |
5: 30,532,344 (GRCm39) |
H1601L |
possibly damaging |
Het |
Plat |
G |
A |
8: 23,262,228 (GRCm39) |
S84N |
probably benign |
Het |
Prss30 |
T |
C |
17: 24,192,130 (GRCm39) |
D224G |
probably damaging |
Het |
Psg25 |
C |
A |
7: 18,260,203 (GRCm39) |
V232F |
probably damaging |
Het |
Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
Ryr1 |
C |
T |
7: 28,789,581 (GRCm39) |
S1511N |
probably damaging |
Het |
Slc16a1 |
A |
G |
3: 104,562,794 (GRCm39) |
K413R |
probably benign |
Het |
Snrnp48 |
T |
A |
13: 38,400,304 (GRCm39) |
M137K |
probably benign |
Het |
Tecta |
T |
A |
9: 42,248,570 (GRCm39) |
H1944L |
possibly damaging |
Het |
Tmem145 |
A |
G |
7: 25,006,587 (GRCm39) |
E65G |
possibly damaging |
Het |
Vmn2r87 |
A |
T |
10: 130,315,678 (GRCm39) |
Y129* |
probably null |
Het |
Wdr7 |
A |
G |
18: 63,910,621 (GRCm39) |
H671R |
possibly damaging |
Het |
Zfp219 |
A |
G |
14: 52,244,841 (GRCm39) |
V518A |
probably damaging |
Het |
Zfp472 |
T |
C |
17: 33,196,542 (GRCm39) |
W206R |
possibly 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 |
R2210:Pus7l
|
UTSW |
15 |
94,438,173 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3618:Pus7l
|
UTSW |
15 |
94,425,788 (GRCm39) |
missense |
probably damaging |
0.97 |
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'- TGACATCAGGGTGTGTGAGC -3'
(R):5'- TTTCTGAAGGCTAATCCACAGGC -3'
Sequencing Primer
(F):5'- TGTGAGCTTAAATGTCGCCC -3'
(R):5'- ACAGGCCGTGGTTTCTCC -3'
|
Posted On |
2015-07-21 |