Incidental Mutation 'R9173:Usp29'
| ID |
696533 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp29
|
| Ensembl Gene |
ENSMUSG00000051527 |
| Gene Name |
ubiquitin specific peptidase 29 |
| Synonyms |
Ocat |
| MMRRC Submission |
068947-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9173 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
6733577-6970218 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6964636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 160
(S160P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143283
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054055]
[ENSMUST00000197117]
[ENSMUST00000198068]
[ENSMUST00000200535]
|
| AlphaFold |
Q9ES63 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054055
AA Change: S160P
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000062349
Gene: ENSMUSG00000051527
AA Change: S160P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH_N
|
1 |
107 |
6.1e-37 |
PFAM |
|
low complexity region
|
162 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
214 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
288 |
823 |
6.1e-53 |
PFAM |
|
Pfam:UCH_1
|
289 |
615 |
2.3e-16 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197117
AA Change: S160P
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143283
Gene: ENSMUSG00000051527
AA Change: S160P
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3U12|B
|
11 |
73 |
3e-7 |
PDB |
|
low complexity region
|
82 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
169 |
186 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198068
AA Change: S160P
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143267
Gene: ENSMUSG00000051527
AA Change: S160P
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3U12|B
|
11 |
123 |
3e-6 |
PDB |
|
low complexity region
|
169 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
221 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
295 |
830 |
7.9e-52 |
PFAM |
|
Pfam:UCH_1
|
296 |
626 |
9.6e-16 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000200535
AA Change: S160P
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143769
Gene: ENSMUSG00000051527
AA Change: S160P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH_N
|
8 |
114 |
8.3e-34 |
PFAM |
|
low complexity region
|
169 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
221 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
295 |
830 |
2.8e-51 |
PFAM |
|
Pfam:UCH_1
|
296 |
622 |
1.1e-14 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1a |
G |
T |
9: 119,170,190 (GRCm39) |
|
probably benign |
Het |
| Clstn1 |
A |
G |
4: 149,710,564 (GRCm39) |
T79A |
probably benign |
Het |
| Cpd |
C |
T |
11: 76,699,649 (GRCm39) |
R634Q |
probably damaging |
Het |
| Ctnna2 |
T |
C |
6: 76,896,939 (GRCm39) |
D753G |
probably damaging |
Het |
| Cyp51 |
T |
C |
5: 4,136,504 (GRCm39) |
N430S |
probably benign |
Het |
| Dnajc17 |
A |
T |
2: 119,009,894 (GRCm39) |
V244D |
probably benign |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Dysf |
A |
G |
6: 84,171,379 (GRCm39) |
K1796E |
probably benign |
Het |
| Eftud2 |
A |
T |
11: 102,734,242 (GRCm39) |
V659E |
probably damaging |
Het |
| Ercc4 |
G |
A |
16: 12,939,973 (GRCm39) |
A168T |
possibly damaging |
Het |
| Exd2 |
T |
C |
12: 80,536,236 (GRCm39) |
Y289H |
probably benign |
Het |
| Fat2 |
C |
A |
11: 55,169,763 (GRCm39) |
V2999L |
probably damaging |
Het |
| Fgd5 |
T |
C |
6: 92,044,584 (GRCm39) |
|
probably null |
Het |
| Fkbp9 |
T |
C |
6: 56,850,389 (GRCm39) |
S422P |
possibly damaging |
Het |
| H2bc21 |
T |
C |
3: 96,128,615 (GRCm39) |
V45A |
possibly damaging |
Het |
| H2-Eb2 |
A |
G |
17: 34,552,491 (GRCm39) |
D112G |
probably benign |
Het |
| Herc2 |
A |
T |
7: 55,856,350 (GRCm39) |
R3929S |
probably damaging |
Het |
| Hrc |
G |
A |
7: 44,986,799 (GRCm39) |
|
probably null |
Het |
| Ighv5-8 |
T |
A |
12: 113,618,681 (GRCm39) |
V32D |
probably benign |
Het |
| Itgal |
G |
T |
7: 126,896,789 (GRCm39) |
|
probably null |
Het |
| Jcad |
T |
A |
18: 4,675,820 (GRCm39) |
V1194E |
probably benign |
Het |
| Kat8 |
A |
G |
7: 127,511,863 (GRCm39) |
T54A |
probably benign |
Het |
| Kcnu1 |
G |
A |
8: 26,390,074 (GRCm39) |
|
probably null |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Lama1 |
A |
G |
17: 68,076,597 (GRCm39) |
T1124A |
|
Het |
| Lrp2 |
T |
A |
2: 69,299,731 (GRCm39) |
D3107V |
probably damaging |
Het |
| Map6 |
G |
A |
7: 98,917,935 (GRCm39) |
R236H |
probably damaging |
Het |
| Mycbpap |
T |
A |
11: 94,397,209 (GRCm39) |
N64I |
probably damaging |
Het |
| Nop14 |
A |
G |
5: 34,806,776 (GRCm39) |
S443P |
probably damaging |
Het |
| Nxn |
T |
C |
11: 76,149,560 (GRCm39) |
D380G |
possibly damaging |
Het |
| Or1e28-ps1 |
T |
A |
11: 73,615,734 (GRCm39) |
I39F |
possibly damaging |
Het |
| Patj |
A |
T |
4: 98,526,958 (GRCm39) |
M1390L |
probably benign |
Het |
| Pcyox1l |
A |
G |
18: 61,830,663 (GRCm39) |
L403P |
probably damaging |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,384,152 (GRCm39) |
S1181G |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,220,520 (GRCm39) |
I76N |
possibly damaging |
Het |
| Relch |
A |
G |
1: 105,678,128 (GRCm39) |
E1151G |
probably benign |
Het |
| Rnft1 |
T |
C |
11: 86,377,001 (GRCm39) |
S22P |
probably benign |
Het |
| Sec31a |
T |
C |
5: 100,529,147 (GRCm39) |
T733A |
possibly damaging |
Het |
| Serpina1c |
A |
G |
12: 103,862,328 (GRCm39) |
I329T |
possibly damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,761,299 (GRCm39) |
D438G |
probably benign |
Het |
| Slit2 |
G |
A |
5: 48,377,285 (GRCm39) |
C438Y |
probably damaging |
Het |
| Sorcs1 |
T |
A |
19: 50,220,753 (GRCm39) |
I566F |
possibly damaging |
Het |
| Spata31e5 |
T |
A |
1: 28,816,430 (GRCm39) |
E534V |
probably benign |
Het |
| Spata7 |
T |
A |
12: 98,603,853 (GRCm39) |
S73R |
probably damaging |
Het |
| Stau2 |
G |
A |
1: 16,444,933 (GRCm39) |
R332* |
probably null |
Het |
| Sytl3 |
T |
C |
17: 7,000,471 (GRCm39) |
F419L |
probably damaging |
Het |
| Tet1 |
A |
C |
10: 62,676,065 (GRCm39) |
D670E |
probably benign |
Het |
| Trafd1 |
T |
C |
5: 121,516,598 (GRCm39) |
R202G |
possibly damaging |
Het |
| Tubal3 |
A |
T |
13: 3,983,050 (GRCm39) |
T277S |
possibly damaging |
Het |
| Ube4b |
A |
G |
4: 149,415,933 (GRCm39) |
F1054L |
probably damaging |
Het |
| Unc13b |
C |
A |
4: 43,177,421 (GRCm39) |
Q2750K |
unknown |
Het |
| Vmn2r114 |
A |
T |
17: 23,510,527 (GRCm39) |
I651N |
probably damaging |
Het |
| Ypel1 |
A |
T |
16: 16,915,298 (GRCm39) |
C103* |
probably null |
Het |
| Zfp11 |
A |
T |
5: 129,734,891 (GRCm39) |
I190N |
probably damaging |
Het |
|
| Other mutations in Usp29 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00659:Usp29
|
APN |
7 |
6,965,281 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01588:Usp29
|
APN |
7 |
6,965,610 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02032:Usp29
|
APN |
7 |
6,965,017 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02052:Usp29
|
APN |
7 |
6,965,525 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02331:Usp29
|
APN |
7 |
6,965,155 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02551:Usp29
|
APN |
7 |
6,966,352 (GRCm39) |
splice site |
probably null |
|
|
IGL02573:Usp29
|
APN |
7 |
6,965,617 (GRCm39) |
splice site |
probably null |
|
|
IGL02894:Usp29
|
APN |
7 |
6,964,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0029:Usp29
|
UTSW |
7 |
6,964,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0142:Usp29
|
UTSW |
7 |
6,965,334 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0452:Usp29
|
UTSW |
7 |
6,966,181 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0680:Usp29
|
UTSW |
7 |
6,965,884 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1161:Usp29
|
UTSW |
7 |
6,964,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2391:Usp29
|
UTSW |
7 |
6,966,770 (GRCm39) |
splice site |
probably null |
|
|
R3104:Usp29
|
UTSW |
7 |
6,965,052 (GRCm39) |
nonsense |
probably null |
|
|
R4119:Usp29
|
UTSW |
7 |
6,965,805 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4490:Usp29
|
UTSW |
7 |
6,964,949 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4598:Usp29
|
UTSW |
7 |
6,965,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4606:Usp29
|
UTSW |
7 |
6,966,356 (GRCm39) |
splice site |
probably null |
|
|
R4670:Usp29
|
UTSW |
7 |
6,965,914 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4777:Usp29
|
UTSW |
7 |
6,965,747 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4783:Usp29
|
UTSW |
7 |
6,964,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4785:Usp29
|
UTSW |
7 |
6,964,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4896:Usp29
|
UTSW |
7 |
6,965,158 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4915:Usp29
|
UTSW |
7 |
6,964,504 (GRCm39) |
missense |
probably benign |
|
|
R4944:Usp29
|
UTSW |
7 |
6,964,927 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5004:Usp29
|
UTSW |
7 |
6,965,158 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5171:Usp29
|
UTSW |
7 |
6,965,074 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5268:Usp29
|
UTSW |
7 |
6,964,583 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5572:Usp29
|
UTSW |
7 |
6,965,191 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5933:Usp29
|
UTSW |
7 |
6,964,744 (GRCm39) |
missense |
probably benign |
|
|
R6694:Usp29
|
UTSW |
7 |
6,965,276 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7389:Usp29
|
UTSW |
7 |
6,966,457 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7446:Usp29
|
UTSW |
7 |
6,964,219 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7447:Usp29
|
UTSW |
7 |
6,964,219 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7535:Usp29
|
UTSW |
7 |
6,964,219 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7537:Usp29
|
UTSW |
7 |
6,964,219 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8081:Usp29
|
UTSW |
7 |
6,966,629 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8233:Usp29
|
UTSW |
7 |
6,965,406 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8703:Usp29
|
UTSW |
7 |
6,964,321 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8725:Usp29
|
UTSW |
7 |
6,965,917 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8727:Usp29
|
UTSW |
7 |
6,965,917 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8844:Usp29
|
UTSW |
7 |
6,964,891 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9616:Usp29
|
UTSW |
7 |
6,966,179 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9623:Usp29
|
UTSW |
7 |
6,964,396 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGATTCGTCTACTCCATGTG -3'
(R):5'- AGCAGGTTCAAGTTTCCAATTGC -3'
Sequencing Primer
(F):5'- TGTGAGTCCCAGCAACCCATG -3'
(R):5'- AGGTTCAAGTTTCCAATTGCTACGC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation