Incidental Mutation 'IGL00155:Tmprss11c'
| ID |
1647 |
| 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 # |
IGL00155
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
86379340-86437167 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86387254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 208
(S208R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142902
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059424]
[ENSMUST00000196462]
|
| AlphaFold |
Q1JRP2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059424
AA Change: S221R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000062915
Gene: ENSMUSG00000061184
AA Change: S221R
| 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 |
probably benign
Transcript: ENSMUST00000196462
AA Change: S208R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000142902
Gene: ENSMUSG00000061184
AA Change: S208R
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,590,235 (GRCm39) |
F498S |
probably damaging |
Het |
| Arhgap11a |
A |
G |
2: 113,664,601 (GRCm39) |
S561P |
probably benign |
Het |
| Best3 |
T |
C |
10: 116,824,632 (GRCm39) |
Y33H |
probably damaging |
Het |
| Cd209b |
T |
A |
8: 3,969,945 (GRCm39) |
|
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,405,808 (GRCm39) |
S1575P |
probably benign |
Het |
| Crabp2 |
A |
G |
3: 87,859,506 (GRCm39) |
Y52C |
probably damaging |
Het |
| Crybg1 |
T |
C |
10: 43,868,505 (GRCm39) |
D1017G |
probably damaging |
Het |
| Ctnna2 |
A |
T |
6: 76,957,744 (GRCm39) |
W137R |
probably damaging |
Het |
| Cxcl9 |
T |
A |
5: 92,471,728 (GRCm39) |
H104L |
possibly damaging |
Het |
| Ddr2 |
A |
G |
1: 169,811,996 (GRCm39) |
I742T |
possibly damaging |
Het |
| Frem1 |
A |
G |
4: 82,877,626 (GRCm39) |
V223A |
possibly damaging |
Het |
| Fzd10 |
T |
A |
5: 128,678,592 (GRCm39) |
I104N |
probably damaging |
Het |
| Greb1 |
A |
G |
12: 16,761,962 (GRCm39) |
S473P |
probably damaging |
Het |
| Gtf2i |
T |
C |
5: 134,271,602 (GRCm39) |
Y873C |
probably damaging |
Het |
| Igsf6 |
T |
A |
7: 120,669,876 (GRCm39) |
K89* |
probably null |
Het |
| Ints3 |
A |
G |
3: 90,313,636 (GRCm39) |
F331L |
probably damaging |
Het |
| Kcnh3 |
A |
T |
15: 99,140,354 (GRCm39) |
H1080L |
possibly damaging |
Het |
| Mettl15 |
A |
T |
2: 108,923,521 (GRCm39) |
Y300* |
probably null |
Het |
| Mms19 |
A |
G |
19: 41,936,672 (GRCm39) |
F654L |
probably benign |
Het |
| Myc |
A |
G |
15: 61,861,669 (GRCm39) |
H425R |
probably benign |
Het |
| Ntn1 |
G |
T |
11: 68,117,445 (GRCm39) |
|
probably benign |
Het |
| Ormdl2 |
C |
A |
10: 128,655,944 (GRCm39) |
G69W |
probably damaging |
Het |
| Pdpr |
T |
C |
8: 111,828,704 (GRCm39) |
V69A |
possibly damaging |
Het |
| Rbbp6 |
T |
C |
7: 122,587,908 (GRCm39) |
I254T |
probably damaging |
Het |
| Sema6d |
A |
G |
2: 124,501,785 (GRCm39) |
R543G |
possibly damaging |
Het |
| Slc18a1 |
C |
T |
8: 69,503,998 (GRCm39) |
A314T |
probably damaging |
Het |
| Slc22a26 |
A |
G |
19: 7,760,201 (GRCm39) |
L514P |
probably damaging |
Het |
| Slc22a28 |
A |
C |
19: 8,107,567 (GRCm39) |
S167A |
possibly damaging |
Het |
| Speer1m |
A |
G |
5: 11,971,377 (GRCm39) |
S110G |
possibly damaging |
Het |
| Tchh |
A |
G |
3: 93,352,606 (GRCm39) |
E682G |
unknown |
Het |
| Thbs2 |
A |
T |
17: 14,889,097 (GRCm39) |
M1134K |
probably damaging |
Het |
| Tmem26 |
A |
G |
10: 68,611,184 (GRCm39) |
S218G |
probably damaging |
Het |
| Tnfrsf8 |
T |
C |
4: 145,019,161 (GRCm39) |
|
probably null |
Het |
| Ush2a |
T |
C |
1: 188,596,875 (GRCm39) |
S3872P |
probably benign |
Het |
| Vmn1r69 |
T |
C |
7: 10,313,879 (GRCm39) |
N205S |
probably benign |
Het |
| Vmn2r54 |
T |
A |
7: 12,365,840 (GRCm39) |
|
probably benign |
Het |
| Wwtr1 |
A |
T |
3: 57,370,942 (GRCm39) |
M328K |
possibly damaging |
Het |
| Zfp64 |
G |
A |
2: 168,768,601 (GRCm39) |
S337L |
probably benign |
Het |
|
| Other mutations in Tmprss11c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2011-07-12 |
Incidental Mutation