Incidental Mutation 'R6343:Tmprss11c'
| ID |
513996 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss11c
|
| Ensembl Gene |
ENSMUSG00000061184 |
| Gene Name |
transmembrane protease, serine 11c |
| Synonyms |
|
| MMRRC Submission |
044497-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6343 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
86379340-86437167 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86404204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 157
(L157P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142902
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059424]
[ENSMUST00000196462]
|
| AlphaFold |
Q1JRP2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059424
AA Change: L157P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062915
Gene: ENSMUSG00000061184
AA Change: L157P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
34 |
56 |
N/A |
INTRINSIC |
|
SEA
|
58 |
183 |
5.19e-3 |
SMART |
|
Tryp_SPc
|
199 |
425 |
8.42e-91 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196462
AA Change: L157P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142902
Gene: ENSMUSG00000061184
AA Change: L157P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
34 |
56 |
N/A |
INTRINSIC |
|
SEA
|
58 |
176 |
3.6e-4 |
SMART |
|
Tryp_SPc
|
186 |
412 |
4.1e-93 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
T |
11: 110,205,378 (GRCm39) |
L301Q |
probably damaging |
Het |
| Adgrl4 |
T |
C |
3: 151,223,443 (GRCm39) |
L632P |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,527,562 (GRCm39) |
I539N |
probably benign |
Het |
| Camta1 |
T |
A |
4: 151,164,306 (GRCm39) |
H314L |
probably damaging |
Het |
| Car2 |
T |
C |
3: 14,953,025 (GRCm39) |
S56P |
probably damaging |
Het |
| Chrm5 |
G |
A |
2: 112,309,793 (GRCm39) |
A441V |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,426,819 (GRCm39) |
N1380K |
possibly damaging |
Het |
| Cspg4 |
T |
C |
9: 56,799,976 (GRCm39) |
V1580A |
probably benign |
Het |
| Dcc |
A |
G |
18: 71,469,106 (GRCm39) |
L1099P |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Epha5 |
A |
T |
5: 84,254,606 (GRCm39) |
H644Q |
probably damaging |
Het |
| Eya3 |
T |
C |
4: 132,400,221 (GRCm39) |
I80T |
probably damaging |
Het |
| Fdft1 |
A |
T |
14: 63,388,721 (GRCm39) |
Y304N |
probably damaging |
Het |
| Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
| Gpatch2l |
T |
A |
12: 86,307,379 (GRCm39) |
Y252* |
probably null |
Het |
| Hivep1 |
G |
T |
13: 42,313,147 (GRCm39) |
G1796* |
probably null |
Het |
| Irf8 |
T |
C |
8: 121,480,446 (GRCm39) |
V228A |
probably damaging |
Het |
| Islr |
A |
C |
9: 58,064,379 (GRCm39) |
V376G |
probably damaging |
Het |
| Kdm5a |
T |
C |
6: 120,359,894 (GRCm39) |
V230A |
probably benign |
Het |
| Lpgat1 |
A |
G |
1: 191,508,684 (GRCm39) |
|
probably null |
Het |
| Lrp8 |
T |
C |
4: 107,726,353 (GRCm39) |
|
probably null |
Het |
| Lyzl4 |
A |
C |
9: 121,407,150 (GRCm39) |
S127A |
possibly damaging |
Het |
| Map4k1 |
T |
C |
7: 28,699,715 (GRCm39) |
V606A |
possibly damaging |
Het |
| Mau2 |
T |
A |
8: 70,484,173 (GRCm39) |
K138N |
probably damaging |
Het |
| Meikin |
T |
C |
11: 54,261,592 (GRCm39) |
L33P |
probably damaging |
Het |
| Mrpl28 |
T |
C |
17: 26,345,252 (GRCm39) |
V224A |
probably benign |
Het |
| Ncdn |
T |
C |
4: 126,640,964 (GRCm39) |
D512G |
possibly damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,303,925 (GRCm39) |
Q200L |
possibly damaging |
Het |
| Nup98 |
T |
C |
7: 101,843,957 (GRCm39) |
N89S |
possibly damaging |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or14a258 |
T |
A |
7: 86,035,059 (GRCm39) |
R270* |
probably null |
Het |
| Or52p2 |
A |
G |
7: 102,237,753 (GRCm39) |
C66R |
probably damaging |
Het |
| Or5b12 |
G |
T |
19: 12,896,946 (GRCm39) |
H242Q |
probably damaging |
Het |
| Or6c201 |
A |
T |
10: 128,969,535 (GRCm39) |
L34* |
probably null |
Het |
| Padi3 |
C |
T |
4: 140,530,819 (GRCm39) |
V68I |
possibly damaging |
Het |
| Pign |
A |
T |
1: 105,512,820 (GRCm39) |
M621K |
probably benign |
Het |
| Pigv |
C |
T |
4: 133,392,547 (GRCm39) |
V208M |
probably damaging |
Het |
| Ripk4 |
A |
G |
16: 97,564,726 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
A |
G |
7: 97,310,124 (GRCm39) |
K285E |
probably benign |
Het |
| Serpina3k |
G |
C |
12: 104,311,562 (GRCm39) |
G380A |
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,365,426 (GRCm39) |
|
probably null |
Het |
| Srrd |
G |
C |
5: 112,487,866 (GRCm39) |
A104G |
probably benign |
Het |
| Tbp |
T |
A |
17: 15,721,351 (GRCm39) |
|
probably null |
Het |
| Tecrl |
G |
A |
5: 83,442,447 (GRCm39) |
H209Y |
probably damaging |
Het |
| Tmprss13 |
A |
T |
9: 45,254,498 (GRCm39) |
T422S |
possibly damaging |
Het |
| Ttll5 |
A |
G |
12: 86,003,473 (GRCm39) |
H1103R |
probably benign |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,223,049 (GRCm39) |
Y699C |
probably damaging |
Het |
| Vmn1r22 |
T |
G |
6: 57,877,563 (GRCm39) |
N138T |
possibly damaging |
Het |
|
| Other mutations in Tmprss11c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Tmprss11c
|
APN |
5 |
86,387,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01357:Tmprss11c
|
APN |
5 |
86,379,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01809:Tmprss11c
|
APN |
5 |
86,385,521 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02972:Tmprss11c
|
APN |
5 |
86,385,692 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL03135:Tmprss11c
|
APN |
5 |
86,385,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03255:Tmprss11c
|
APN |
5 |
86,419,341 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03355:Tmprss11c
|
APN |
5 |
86,379,730 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0165:Tmprss11c
|
UTSW |
5 |
86,379,786 (GRCm39) |
splice site |
probably benign |
|
|
R0285:Tmprss11c
|
UTSW |
5 |
86,419,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0480:Tmprss11c
|
UTSW |
5 |
86,385,468 (GRCm39) |
splice site |
probably benign |
|
|
R0639:Tmprss11c
|
UTSW |
5 |
86,383,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1554:Tmprss11c
|
UTSW |
5 |
86,437,119 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
|
R1651:Tmprss11c
|
UTSW |
5 |
86,387,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2234:Tmprss11c
|
UTSW |
5 |
86,429,945 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2235:Tmprss11c
|
UTSW |
5 |
86,429,945 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2698:Tmprss11c
|
UTSW |
5 |
86,419,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4787:Tmprss11c
|
UTSW |
5 |
86,404,312 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4962:Tmprss11c
|
UTSW |
5 |
86,385,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5063:Tmprss11c
|
UTSW |
5 |
86,385,689 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5217:Tmprss11c
|
UTSW |
5 |
86,404,249 (GRCm39) |
missense |
probably benign |
|
|
R5366:Tmprss11c
|
UTSW |
5 |
86,429,993 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6598:Tmprss11c
|
UTSW |
5 |
86,437,092 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6681:Tmprss11c
|
UTSW |
5 |
86,437,119 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
|
R7170:Tmprss11c
|
UTSW |
5 |
86,385,478 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7198:Tmprss11c
|
UTSW |
5 |
86,379,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7258:Tmprss11c
|
UTSW |
5 |
86,419,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7382:Tmprss11c
|
UTSW |
5 |
86,379,723 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7391:Tmprss11c
|
UTSW |
5 |
86,385,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7590:Tmprss11c
|
UTSW |
5 |
86,387,332 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7894:Tmprss11c
|
UTSW |
5 |
86,379,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8164:Tmprss11c
|
UTSW |
5 |
86,379,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8311:Tmprss11c
|
UTSW |
5 |
86,383,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8416:Tmprss11c
|
UTSW |
5 |
86,387,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8426:Tmprss11c
|
UTSW |
5 |
86,379,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8877:Tmprss11c
|
UTSW |
5 |
86,385,540 (GRCm39) |
nonsense |
probably null |
|
|
R9092:Tmprss11c
|
UTSW |
5 |
86,385,495 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9400:Tmprss11c
|
UTSW |
5 |
86,385,516 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9614:Tmprss11c
|
UTSW |
5 |
86,383,379 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGACACAAAACTAGCTTTCTG -3'
(R):5'- ACGGTTCGACTGTCTTGTC -3'
Sequencing Primer
(F):5'- AACTAGCTTTCTGTTTATGTGGTAC -3'
(R):5'- CACTCCAGTCATTAAGTGTGATCCAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation