Incidental Mutation 'R6598:Tmprss11c'
ID |
525031 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmprss11c
|
Ensembl Gene |
ENSMUSG00000061184 |
Gene Name |
transmembrane protease, serine 11c |
Synonyms |
|
MMRRC Submission |
044722-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6598 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
86379340-86437167 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 86437092 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 10
(E10K)
|
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: E10K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000062915 Gene: ENSMUSG00000061184 AA Change: E10K
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 benign
Transcript: ENSMUST00000196462
AA Change: E10K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000142902 Gene: ENSMUSG00000061184 AA Change: E10K
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: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy4 |
A |
T |
14: 56,007,502 (GRCm39) |
S943T |
probably benign |
Het |
Adgrv1 |
T |
G |
13: 81,654,298 (GRCm39) |
E2911A |
probably damaging |
Het |
Ankrd28 |
A |
G |
14: 31,430,896 (GRCm39) |
F819S |
probably damaging |
Het |
Cald1 |
G |
A |
6: 34,723,575 (GRCm39) |
|
probably null |
Het |
Clca3a2 |
G |
T |
3: 144,792,246 (GRCm39) |
Y338* |
probably null |
Het |
Cmya5 |
C |
T |
13: 93,226,316 (GRCm39) |
G2924D |
probably benign |
Het |
Col6a4 |
A |
T |
9: 105,877,611 (GRCm39) |
L2122Q |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,909,161 (GRCm39) |
F1258S |
probably benign |
Het |
Ddx39a |
T |
C |
8: 84,449,556 (GRCm39) |
V387A |
probably benign |
Het |
Dscam |
A |
G |
16: 96,620,984 (GRCm39) |
C575R |
probably damaging |
Het |
Dyrk4 |
C |
T |
6: 126,853,289 (GRCm39) |
V632M |
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Ermp1 |
A |
G |
19: 29,609,902 (GRCm39) |
S111P |
possibly damaging |
Het |
Fbxo40 |
A |
T |
16: 36,789,376 (GRCm39) |
L578Q |
probably damaging |
Het |
Frem1 |
A |
T |
4: 82,932,065 (GRCm39) |
F212Y |
probably damaging |
Het |
Golm2 |
A |
T |
2: 121,763,966 (GRCm39) |
E247D |
probably damaging |
Het |
Golm2 |
G |
A |
2: 121,763,967 (GRCm39) |
E383K |
probably damaging |
Het |
Icos |
T |
G |
1: 61,033,856 (GRCm39) |
I162S |
possibly damaging |
Het |
Kcnj8 |
G |
T |
6: 142,515,959 (GRCm39) |
N49K |
probably damaging |
Het |
Ldhb |
A |
T |
6: 142,436,326 (GRCm39) |
M281K |
possibly damaging |
Het |
Med17 |
T |
C |
9: 15,182,996 (GRCm39) |
K350E |
probably benign |
Het |
Mpo |
A |
T |
11: 87,690,798 (GRCm39) |
N412I |
probably benign |
Het |
Mrps24 |
A |
T |
11: 5,654,713 (GRCm39) |
D80E |
probably benign |
Het |
Myo5c |
A |
G |
9: 75,153,516 (GRCm39) |
D134G |
probably damaging |
Het |
Ndufs1 |
T |
C |
1: 63,204,109 (GRCm39) |
Q140R |
probably null |
Het |
Nsd1 |
T |
C |
13: 55,441,515 (GRCm39) |
V1662A |
possibly damaging |
Het |
Or10ag53 |
C |
T |
2: 87,083,100 (GRCm39) |
T273I |
probably damaging |
Het |
Or5p51 |
G |
A |
7: 107,444,470 (GRCm39) |
L157F |
probably benign |
Het |
Or6c88 |
C |
A |
10: 129,407,238 (GRCm39) |
T238N |
probably damaging |
Het |
Polq |
G |
A |
16: 36,881,993 (GRCm39) |
A1386T |
probably benign |
Het |
Ppil1 |
C |
A |
17: 29,480,852 (GRCm39) |
V24F |
probably benign |
Het |
Prim1 |
G |
T |
10: 127,856,049 (GRCm39) |
V165L |
possibly damaging |
Het |
Slc12a2 |
G |
A |
18: 58,031,145 (GRCm39) |
V317I |
probably benign |
Het |
Tbpl1 |
A |
G |
10: 22,583,748 (GRCm39) |
V103A |
probably damaging |
Het |
Unc80 |
T |
G |
1: 66,507,699 (GRCm39) |
|
probably null |
Het |
Uqcrc1 |
G |
T |
9: 108,776,690 (GRCm39) |
V30F |
possibly damaging |
Het |
Vmn1r88 |
T |
C |
7: 12,912,150 (GRCm39) |
Y169H |
probably damaging |
Het |
Zan |
A |
T |
5: 137,404,626 (GRCm39) |
|
probably benign |
Het |
Zc3h13 |
A |
G |
14: 75,569,623 (GRCm39) |
D1490G |
probably damaging |
Het |
Zer1 |
T |
A |
2: 30,003,286 (GRCm39) |
S44C |
probably damaging |
Het |
Zfp106 |
T |
A |
2: 120,365,541 (GRCm39) |
K289* |
probably null |
Het |
Zfp618 |
A |
G |
4: 63,007,636 (GRCm39) |
Y155C |
probably damaging |
Het |
Zfp979 |
A |
G |
4: 147,698,223 (GRCm39) |
L162P |
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 |
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 |
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'- CCATAGGAGATGAAAGAAACTGCTC -3'
(R):5'- TGGATTGGCATACACACAGCTC -3'
Sequencing Primer
(F):5'- AAAGAAACTGCTCATTTTTAAGAACC -3'
(R):5'- ACACAGCTCCCAGTTTACTAATG -3'
|
Posted On |
2018-06-22 |