Incidental Mutation 'R2304:Prss53'
| ID |
244529 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prss53
|
| Ensembl Gene |
ENSMUSG00000044139 |
| Gene Name |
serine protease 53 |
| Synonyms |
BC039632 |
| MMRRC Submission |
040303-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2304 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
127485013-127490142 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127487479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 291
(N291D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145763
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033074]
[ENSMUST00000050383]
[ENSMUST00000119922]
[ENSMUST00000121394]
[ENSMUST00000205300]
[ENSMUST00000206053]
|
| AlphaFold |
Q571E5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033074
|
| SMART Domains |
Protein: ENSMUSP00000033074
Gene: ENSMUSG00000096145
| Domain | Start | End | E-Value | Type |
|---|
|
VKc
|
5 |
153 |
1.29e-56 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050383
|
| SMART Domains |
Protein: ENSMUSP00000052641
Gene: ENSMUSG00000049739
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
8 |
31 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
67 |
89 |
5.29e-5 |
SMART |
|
ZnF_C2H2
|
231 |
253 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
258 |
280 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
286 |
308 |
2.24e-3 |
SMART |
|
low complexity region
|
345 |
362 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
366 |
388 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
393 |
415 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
457 |
479 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
484 |
506 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
566 |
588 |
2.32e-1 |
SMART |
|
ZnF_C2H2
|
606 |
628 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
633 |
655 |
1.53e-1 |
SMART |
|
low complexity region
|
737 |
750 |
N/A |
INTRINSIC |
|
low complexity region
|
786 |
797 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
806 |
828 |
2.17e-1 |
SMART |
|
ZnF_C2H2
|
833 |
855 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
866 |
889 |
1.16e-1 |
SMART |
|
low complexity region
|
890 |
911 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
941 |
961 |
9.31e1 |
SMART |
|
ZnF_C2H2
|
1035 |
1057 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
1062 |
1084 |
3.39e-3 |
SMART |
|
low complexity region
|
1149 |
1163 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1170 |
1192 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
1197 |
1219 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
1225 |
1247 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
1266 |
1286 |
5.12e1 |
SMART |
|
ZnF_C2H2
|
1293 |
1315 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
1333 |
1355 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
1550 |
1572 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
1640 |
1662 |
1.08e-1 |
SMART |
|
ZnF_C2H2
|
1667 |
1689 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
1695 |
1717 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
1724 |
1746 |
1.45e-2 |
SMART |
|
low complexity region
|
1751 |
1764 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119922
|
| SMART Domains |
Protein: ENSMUSP00000112542
Gene: ENSMUSG00000096145
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VKOR
|
3 |
85 |
1.5e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121394
AA Change: N291D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112972
Gene: ENSMUSG00000044139
AA Change: N291D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
38 |
268 |
3.91e-45 |
SMART |
|
Tryp_SPc
|
300 |
520 |
9.95e-29 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126662
|
| SMART Domains |
Protein: ENSMUSP00000123566
Gene: ENSMUSG00000030804
| Domain | Start | End | E-Value | Type |
|---|
|
VKc
|
1 |
111 |
8.84e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205300
AA Change: N291D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206053
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206340
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
T |
A |
5: 8,142,366 (GRCm39) |
R806S |
probably damaging |
Het |
| Ccdc187 |
T |
C |
2: 26,171,029 (GRCm39) |
K483R |
possibly damaging |
Het |
| Dcdc5 |
T |
A |
2: 106,166,488 (GRCm39) |
|
noncoding transcript |
Het |
| Dvl1 |
C |
T |
4: 155,940,041 (GRCm39) |
S391F |
probably damaging |
Het |
| Erg28 |
A |
G |
12: 85,862,937 (GRCm39) |
L125P |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm5449 |
G |
T |
13: 53,679,899 (GRCm39) |
|
noncoding transcript |
Het |
| Grid2ip |
T |
C |
5: 143,373,595 (GRCm39) |
Y796H |
probably damaging |
Het |
| Mcrip1 |
A |
T |
11: 120,435,519 (GRCm39) |
F39I |
probably damaging |
Het |
| Or5w12 |
T |
A |
2: 87,502,238 (GRCm39) |
I158L |
probably benign |
Het |
| Ptpru |
A |
T |
4: 131,499,879 (GRCm39) |
V1255D |
probably damaging |
Het |
| Rbl1 |
T |
C |
2: 156,989,551 (GRCm39) |
T1023A |
probably benign |
Het |
| Rnaseh2b |
T |
C |
14: 62,598,838 (GRCm39) |
S188P |
probably damaging |
Het |
| Sh2d6 |
T |
C |
6: 72,497,542 (GRCm39) |
E20G |
probably damaging |
Het |
| Slc13a5 |
A |
G |
11: 72,149,865 (GRCm39) |
V172A |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
| Sp8 |
G |
T |
12: 118,812,304 (GRCm39) |
S53I |
possibly damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Togaram1 |
G |
T |
12: 65,023,630 (GRCm39) |
|
probably null |
Het |
| Trip11 |
A |
T |
12: 101,865,236 (GRCm39) |
F146I |
possibly damaging |
Het |
| Vmn1r184 |
T |
C |
7: 25,966,550 (GRCm39) |
S99P |
probably damaging |
Het |
| Xpot |
T |
C |
10: 121,447,488 (GRCm39) |
I325V |
probably benign |
Het |
| Zfp786 |
A |
G |
6: 47,797,633 (GRCm39) |
L435P |
probably damaging |
Het |
|
| Other mutations in Prss53 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01784:Prss53
|
APN |
7 |
127,485,724 (GRCm39) |
missense |
probably benign |
|
|
IGL02244:Prss53
|
APN |
7 |
127,487,964 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02310:Prss53
|
APN |
7 |
127,485,786 (GRCm39) |
missense |
probably benign |
0.37 |
|
PIT4515001:Prss53
|
UTSW |
7 |
127,487,963 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1933:Prss53
|
UTSW |
7 |
127,485,434 (GRCm39) |
makesense |
probably null |
|
|
R1934:Prss53
|
UTSW |
7 |
127,485,920 (GRCm39) |
splice site |
probably null |
|
|
R1994:Prss53
|
UTSW |
7 |
127,486,565 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2307:Prss53
|
UTSW |
7 |
127,490,037 (GRCm39) |
missense |
probably benign |
|
|
R4934:Prss53
|
UTSW |
7 |
127,487,879 (GRCm39) |
missense |
probably benign |
|
|
R6649:Prss53
|
UTSW |
7 |
127,485,747 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7854:Prss53
|
UTSW |
7 |
127,488,117 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8899:Prss53
|
UTSW |
7 |
127,488,193 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9182:Prss53
|
UTSW |
7 |
127,487,554 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9314:Prss53
|
UTSW |
7 |
127,490,039 (GRCm39) |
missense |
probably benign |
|
|
R9492:Prss53
|
UTSW |
7 |
127,488,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9657:Prss53
|
UTSW |
7 |
127,486,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Prss53
|
UTSW |
7 |
127,486,570 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Prss53
|
UTSW |
7 |
127,488,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Prss53
|
UTSW |
7 |
127,488,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTATCCTAAAAGGGGCCTTAGC -3'
(R):5'- TTCTGGCTCCAGGGAGATTC -3'
Sequencing Primer
(F):5'- AAGGGGCCTTAGCAAATCTCCTG -3'
(R):5'- ACCTGTGATGTGCCGTGAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation