Incidental Mutation 'IGL01809:Tmprss11c'
| ID |
155761 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmprss11c
|
| Ensembl Gene |
ENSMUSG00000061184 |
| Gene Name |
transmembrane protease, serine 11c |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01809
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
86379340-86437167 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 86385521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 304
(S304L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142902
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059424]
[ENSMUST00000196462]
|
| AlphaFold |
Q1JRP2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059424
AA Change: S317L
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000062915
Gene: ENSMUSG00000061184
AA Change: S317L
| 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 |
noncoding transcript
Transcript: ENSMUST00000180191
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196462
AA Change: S304L
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142902
Gene: ENSMUSG00000061184
AA Change: S304L
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,240,339 (GRCm39) |
N734I |
probably damaging |
Het |
| Abi1 |
T |
C |
2: 22,836,729 (GRCm39) |
I371V |
probably benign |
Het |
| Atp8b3 |
A |
G |
10: 80,355,845 (GRCm39) |
F1289S |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,454,526 (GRCm39) |
|
probably null |
Het |
| C8a |
A |
T |
4: 104,703,139 (GRCm39) |
I306N |
probably benign |
Het |
| Crybg3 |
G |
T |
16: 59,345,216 (GRCm39) |
|
probably benign |
Het |
| Disp2 |
T |
A |
2: 118,617,745 (GRCm39) |
|
probably benign |
Het |
| Dtl |
A |
G |
1: 191,280,415 (GRCm39) |
F373S |
probably damaging |
Het |
| Dynlt1a |
G |
A |
17: 6,361,147 (GRCm39) |
|
probably null |
Het |
| Dyrk1a |
G |
A |
16: 94,460,476 (GRCm39) |
R44H |
probably benign |
Het |
| Fam114a2 |
C |
T |
11: 57,404,461 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,808,691 (GRCm39) |
E1670G |
possibly damaging |
Het |
| Gbp10 |
A |
T |
5: 105,365,225 (GRCm39) |
N594K |
probably benign |
Het |
| Gpam |
T |
A |
19: 55,064,057 (GRCm39) |
K679* |
probably null |
Het |
| Gtf2i |
A |
T |
5: 134,278,804 (GRCm39) |
V524E |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,129,079 (GRCm39) |
E2011D |
probably damaging |
Het |
| Jag1 |
C |
A |
2: 136,957,404 (GRCm39) |
G103W |
probably damaging |
Het |
| Klkb1 |
A |
T |
8: 45,729,090 (GRCm39) |
V378E |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,812,388 (GRCm39) |
S933R |
probably damaging |
Het |
| Man2b2 |
T |
C |
5: 36,971,860 (GRCm39) |
S619G |
probably benign |
Het |
| Mex3b |
T |
C |
7: 82,518,920 (GRCm39) |
S412P |
probably benign |
Het |
| Mtf2 |
A |
G |
5: 108,235,191 (GRCm39) |
I36V |
probably benign |
Het |
| Nckipsd |
T |
C |
9: 108,694,753 (GRCm39) |
Y652H |
probably damaging |
Het |
| Or5ak24 |
A |
G |
2: 85,260,498 (GRCm39) |
L225P |
probably damaging |
Het |
| Or5w13 |
T |
C |
2: 87,524,089 (GRCm39) |
I46V |
possibly damaging |
Het |
| Or8b12i |
A |
G |
9: 20,082,591 (GRCm39) |
I92T |
probably damaging |
Het |
| Or8g53 |
A |
T |
9: 39,683,990 (GRCm39) |
Y35* |
probably null |
Het |
| Phykpl |
T |
C |
11: 51,490,351 (GRCm39) |
F411L |
probably benign |
Het |
| Rbm8a |
T |
A |
3: 96,538,853 (GRCm39) |
F101I |
probably damaging |
Het |
| Rbp3 |
G |
T |
14: 33,677,257 (GRCm39) |
G402W |
probably damaging |
Het |
| Recql4 |
G |
A |
15: 76,593,070 (GRCm39) |
R254* |
probably null |
Het |
| Rsph14 |
G |
A |
10: 74,793,618 (GRCm39) |
|
probably benign |
Het |
| Stau2 |
A |
T |
1: 16,510,539 (GRCm39) |
|
probably null |
Het |
| Vipr1 |
T |
G |
9: 121,490,506 (GRCm39) |
M184R |
possibly damaging |
Het |
| Zfp106 |
G |
A |
2: 120,364,152 (GRCm39) |
R752C |
probably 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 |
|
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 |
|
R6343:Tmprss11c
|
UTSW |
5 |
86,404,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation