Incidental Mutation 'ANU18:Pus7'
| ID |
262536 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pus7
|
| Ensembl Gene |
ENSMUSG00000057541 |
| Gene Name |
pseudouridylate synthase 7 |
| Synonyms |
C330017I15Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.643)
|
| Stock # |
ANU18
|
| Quality Score |
205 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
23945646-23988709 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 23951422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114588
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119946]
[ENSMUST00000131992]
[ENSMUST00000148618]
|
| AlphaFold |
Q91VU7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000119946
|
| SMART Domains |
Protein: ENSMUSP00000113801
Gene: ENSMUSG00000057541
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
77 |
99 |
N/A |
INTRINSIC |
|
Pfam:TruD
|
246 |
641 |
9e-69 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129848
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131404
|
| SMART Domains |
Protein: ENSMUSP00000122033
Gene: ENSMUSG00000057541
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TruD
|
1 |
184 |
3e-42 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131992
|
| SMART Domains |
Protein: ENSMUSP00000123129
Gene: ENSMUSG00000057541
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
77 |
99 |
N/A |
INTRINSIC |
|
Pfam:TruD
|
239 |
641 |
1.3e-71 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147922
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000148618
|
| SMART Domains |
Protein: ENSMUSP00000114588
Gene: ENSMUSG00000057541
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
77 |
99 |
N/A |
INTRINSIC |
|
Pfam:TruD
|
251 |
647 |
6.3e-69 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148921
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012H06Rik |
C |
T |
17: 15,164,181 (GRCm39) |
|
probably null |
Het |
| Acacb |
A |
T |
5: 114,384,559 (GRCm39) |
I2238L |
probably benign |
Het |
| Aldh1l2 |
T |
C |
10: 83,358,710 (GRCm39) |
Y95C |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,551,425 (GRCm39) |
T1056A |
probably damaging |
Het |
| B4galnt1 |
A |
G |
10: 127,005,648 (GRCm39) |
T250A |
possibly damaging |
Het |
| Cela3b |
A |
T |
4: 137,151,154 (GRCm39) |
|
probably null |
Het |
| Chst3 |
T |
C |
10: 60,021,654 (GRCm39) |
T398A |
probably damaging |
Het |
| Cngb3 |
A |
G |
4: 19,425,625 (GRCm39) |
T478A |
probably damaging |
Het |
| Cyp4a10 |
T |
C |
4: 115,375,652 (GRCm39) |
L45P |
probably damaging |
Het |
| D630003M21Rik |
A |
G |
2: 158,059,568 (GRCm39) |
S111P |
probably benign |
Het |
| Defb21 |
A |
G |
2: 152,416,671 (GRCm39) |
E49G |
possibly damaging |
Het |
| Dnajc1 |
T |
C |
2: 18,313,645 (GRCm39) |
T159A |
probably damaging |
Het |
| Dnmbp |
A |
G |
19: 43,890,793 (GRCm39) |
S325P |
probably benign |
Het |
| Fam91a1 |
T |
C |
15: 58,314,720 (GRCm39) |
F534L |
probably damaging |
Het |
| Fermt2 |
T |
C |
14: 45,702,320 (GRCm39) |
E488G |
probably damaging |
Het |
| Filip1 |
T |
C |
9: 79,726,462 (GRCm39) |
D719G |
possibly damaging |
Het |
| Gad1-ps |
A |
G |
10: 99,281,013 (GRCm39) |
|
noncoding transcript |
Het |
| Glra3 |
C |
A |
8: 56,393,997 (GRCm39) |
A36E |
probably benign |
Het |
| Hnrnpm |
C |
T |
17: 33,888,142 (GRCm39) |
|
probably null |
Het |
| Lct |
T |
A |
1: 128,235,784 (GRCm39) |
R408* |
probably null |
Het |
| Lrrk2 |
T |
A |
15: 91,651,542 (GRCm39) |
Y1733N |
probably damaging |
Het |
| Mindy1 |
T |
C |
3: 95,195,701 (GRCm39) |
L148P |
probably damaging |
Het |
| Mkrn2 |
C |
A |
6: 115,588,750 (GRCm39) |
Y164* |
probably null |
Het |
| Msra |
T |
C |
14: 64,447,884 (GRCm39) |
Y135C |
probably damaging |
Het |
| Ndst3 |
C |
T |
3: 123,342,565 (GRCm39) |
A749T |
probably damaging |
Het |
| Ngdn |
G |
T |
14: 55,254,571 (GRCm39) |
A41S |
probably benign |
Het |
| Nlrp12 |
A |
T |
7: 3,288,722 (GRCm39) |
S597T |
probably damaging |
Het |
| Or5b99 |
A |
T |
19: 12,976,781 (GRCm39) |
I144F |
probably damaging |
Het |
| Pabpc6 |
A |
G |
17: 9,886,899 (GRCm39) |
S551P |
probably benign |
Het |
| Plekhg5 |
C |
T |
4: 152,197,010 (GRCm39) |
A752V |
probably benign |
Het |
| Prpf4b |
T |
C |
13: 35,068,274 (GRCm39) |
S368P |
probably benign |
Het |
| Rab40b |
C |
G |
11: 121,248,788 (GRCm39) |
V156L |
probably benign |
Het |
| Slc9a9 |
T |
A |
9: 94,937,512 (GRCm39) |
S455T |
probably benign |
Het |
| Tmem26 |
A |
T |
10: 68,614,436 (GRCm39) |
N284Y |
probably damaging |
Het |
| Tmem87a |
T |
C |
2: 120,211,250 (GRCm39) |
I232V |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,759,818 (GRCm39) |
L1106P |
probably damaging |
Het |
| Tshz1 |
A |
G |
18: 84,032,786 (GRCm39) |
Y541H |
probably damaging |
Het |
| Zfp213 |
G |
T |
17: 23,780,391 (GRCm39) |
A43D |
probably benign |
Het |
| Zfp365 |
A |
G |
10: 67,745,184 (GRCm39) |
V198A |
probably damaging |
Het |
| Zfp618 |
G |
A |
4: 63,051,063 (GRCm39) |
V615M |
probably damaging |
Het |
|
| Other mutations in Pus7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01301:Pus7
|
APN |
5 |
23,951,422 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01690:Pus7
|
APN |
5 |
23,980,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01813:Pus7
|
APN |
5 |
23,965,302 (GRCm39) |
splice site |
probably benign |
|
|
IGL02257:Pus7
|
APN |
5 |
23,967,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02892:Pus7
|
APN |
5 |
23,959,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
pyrite
|
UTSW |
5 |
23,965,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0010:Pus7
|
UTSW |
5 |
23,952,843 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0139:Pus7
|
UTSW |
5 |
23,983,090 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0219:Pus7
|
UTSW |
5 |
23,980,964 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1127:Pus7
|
UTSW |
5 |
23,973,793 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1655:Pus7
|
UTSW |
5 |
23,952,798 (GRCm39) |
nonsense |
probably null |
|
|
R1795:Pus7
|
UTSW |
5 |
23,946,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1906:Pus7
|
UTSW |
5 |
23,983,209 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4379:Pus7
|
UTSW |
5 |
23,953,864 (GRCm39) |
intron |
probably benign |
|
|
R4430:Pus7
|
UTSW |
5 |
23,951,487 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4431:Pus7
|
UTSW |
5 |
23,951,487 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5569:Pus7
|
UTSW |
5 |
23,953,832 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6854:Pus7
|
UTSW |
5 |
23,973,845 (GRCm39) |
synonymous |
silent |
|
|
R7051:Pus7
|
UTSW |
5 |
23,980,677 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7238:Pus7
|
UTSW |
5 |
23,983,450 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7278:Pus7
|
UTSW |
5 |
23,957,342 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7297:Pus7
|
UTSW |
5 |
23,946,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7540:Pus7
|
UTSW |
5 |
23,965,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7650:Pus7
|
UTSW |
5 |
23,965,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7992:Pus7
|
UTSW |
5 |
23,951,465 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8843:Pus7
|
UTSW |
5 |
23,980,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8887:Pus7
|
UTSW |
5 |
23,948,476 (GRCm39) |
nonsense |
probably null |
|
|
R9102:Pus7
|
UTSW |
5 |
23,957,380 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9485:Pus7
|
UTSW |
5 |
23,973,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0013:Pus7
|
UTSW |
5 |
23,957,273 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTTCCAAACCACTCAGAGCTGC -3'
(R):5'- ATGAGATTTAGCCCCTTGCCCACG -3'
Sequencing Primer
(F):5'- ccctgattggcctggaac -3'
(R):5'- AGCTTACCTAGATGTGTGTGACC -3'
|
| Posted On |
2015-02-04 |
Incidental Mutation