Incidental Mutation 'R8426:Tmprss11c'
| ID |
653471 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss11c
|
| Ensembl Gene |
ENSMUSG00000061184 |
| Gene Name |
transmembrane protease, serine 11c |
| Synonyms |
|
| MMRRC Submission |
067820-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8426 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
86379340-86437167 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 86379677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 410
(N410K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059424]
[ENSMUST00000196462]
|
| AlphaFold |
Q1JRP2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059424
AA Change: N410K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000062915
Gene: ENSMUSG00000061184
AA Change: N410K
| 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: N397K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142902
Gene: ENSMUSG00000061184
AA Change: N397K
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,155,606 (GRCm39) |
H32R |
probably benign |
Het |
| Abcb1b |
T |
C |
5: 8,911,632 (GRCm39) |
|
probably null |
Het |
| Aicda |
A |
T |
6: 122,538,150 (GRCm39) |
N103Y |
probably damaging |
Het |
| Bsn |
T |
C |
9: 108,003,772 (GRCm39) |
E211G |
probably damaging |
Het |
| Casp9 |
T |
C |
4: 141,540,936 (GRCm39) |
Y435H |
probably damaging |
Het |
| Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
| Ceacam5 |
T |
C |
7: 17,493,266 (GRCm39) |
V763A |
possibly damaging |
Het |
| Cxcr6 |
A |
G |
9: 123,639,071 (GRCm39) |
N31S |
probably benign |
Het |
| Elapor1 |
G |
A |
3: 108,378,742 (GRCm39) |
A352V |
probably damaging |
Het |
| Gm17728 |
A |
G |
17: 9,641,231 (GRCm39) |
T114A |
probably benign |
Het |
| Gnao1 |
A |
T |
8: 94,622,857 (GRCm39) |
|
probably null |
Het |
| Iffo2 |
A |
T |
4: 139,342,291 (GRCm39) |
Y451F |
probably damaging |
Het |
| Ints4 |
G |
A |
7: 97,150,239 (GRCm39) |
W258* |
probably null |
Het |
| Ipo11 |
T |
C |
13: 106,978,678 (GRCm39) |
D834G |
possibly damaging |
Het |
| Kif5a |
T |
C |
10: 127,067,358 (GRCm39) |
D853G |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,979,487 (GRCm39) |
E1655G |
probably damaging |
Het |
| Lepr |
G |
A |
4: 101,671,841 (GRCm39) |
S955N |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,388,318 (GRCm39) |
I550V |
|
Het |
| Mov10l1 |
T |
A |
15: 88,881,608 (GRCm39) |
|
probably null |
Het |
| Mroh9 |
A |
T |
1: 162,852,294 (GRCm39) |
D798E |
probably damaging |
Het |
| Myo10 |
A |
G |
15: 25,799,576 (GRCm39) |
I1380V |
probably damaging |
Het |
| Neu2 |
C |
T |
1: 87,524,387 (GRCm39) |
S124L |
probably damaging |
Het |
| Nol6 |
T |
C |
4: 41,119,870 (GRCm39) |
I543V |
probably benign |
Het |
| Nrxn3 |
G |
A |
12: 88,762,097 (GRCm39) |
R48H |
possibly damaging |
Het |
| Ogn |
C |
T |
13: 49,774,567 (GRCm39) |
R237C |
possibly damaging |
Het |
| Or10aa3 |
T |
C |
1: 173,878,146 (GRCm39) |
L69P |
probably damaging |
Het |
| Or8b46 |
A |
T |
9: 38,450,620 (GRCm39) |
Y143F |
probably damaging |
Het |
| Phf24 |
C |
T |
4: 42,933,785 (GRCm39) |
Q19* |
probably null |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Ptch2 |
G |
T |
4: 116,965,369 (GRCm39) |
S318I |
possibly damaging |
Het |
| Sart1 |
A |
G |
19: 5,433,769 (GRCm39) |
M356T |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,382,105 (GRCm39) |
N529D |
probably benign |
Het |
| Smchd1 |
A |
C |
17: 71,755,598 (GRCm39) |
D261E |
probably damaging |
Het |
| Tcerg1 |
G |
A |
18: 42,681,466 (GRCm39) |
V538I |
possibly damaging |
Het |
| Thada |
A |
T |
17: 84,530,131 (GRCm39) |
M1746K |
probably benign |
Het |
| Thsd1 |
A |
G |
8: 22,733,654 (GRCm39) |
I234V |
probably benign |
Het |
| Tm9sf4 |
G |
A |
2: 153,045,736 (GRCm39) |
G536D |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
| Unc5d |
G |
T |
8: 29,210,016 (GRCm39) |
S440Y |
probably damaging |
Het |
| Vmn1r44 |
A |
G |
6: 89,870,470 (GRCm39) |
D72G |
probably benign |
Het |
| Vmn1r68 |
T |
C |
7: 10,261,382 (GRCm39) |
N239D |
probably benign |
Het |
| Vmn2r107 |
T |
A |
17: 20,577,239 (GRCm39) |
H412Q |
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 |
|
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 |
|
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'- CTCACCAAGGTAGCAGAGAG -3'
(R):5'- GTTAGGCTAGCATCATTTCAAGTAC -3'
Sequencing Primer
(F):5'- CTCACTAAAGATATGCCAAACT -3'
(R):5'- GTCTCCCCTGCCATTTCAACAAAAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation