Incidental Mutation 'R8164:Tmprss11c'
| ID |
633665 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss11c
|
| Ensembl Gene |
ENSMUSG00000061184 |
| Gene Name |
transmembrane protease, serine 11c |
| Synonyms |
|
| MMRRC Submission |
067590-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8164 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
86379340-86437167 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86379712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 399
(I399F)
|
| 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: I399F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000062915
Gene: ENSMUSG00000061184
AA Change: I399F
| 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: I386F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142902
Gene: ENSMUSG00000061184
AA Change: I386F
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
98% (49/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
T |
C |
19: 3,767,454 (GRCm39) |
V347A |
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,565,799 (GRCm39) |
I4808F |
probably damaging |
Het |
| Acaa2 |
C |
A |
18: 74,928,318 (GRCm39) |
Y182* |
probably null |
Het |
| Ankrd44 |
A |
T |
1: 54,703,138 (GRCm39) |
N644K |
probably damaging |
Het |
| Aurkaip1 |
T |
A |
4: 155,916,962 (GRCm39) |
M70K |
probably damaging |
Het |
| Brinp1 |
A |
T |
4: 68,681,158 (GRCm39) |
Y457* |
probably null |
Het |
| Brox |
A |
T |
1: 183,062,491 (GRCm39) |
C288S |
possibly damaging |
Het |
| Ccdc57 |
C |
T |
11: 120,788,788 (GRCm39) |
R353H |
probably benign |
Het |
| Cdhr1 |
A |
T |
14: 36,801,499 (GRCm39) |
S815T |
probably damaging |
Het |
| Cnih4 |
A |
G |
1: 180,989,691 (GRCm39) |
I101M |
probably damaging |
Het |
| Ctsj |
T |
C |
13: 61,150,334 (GRCm39) |
T222A |
probably benign |
Het |
| Dab2 |
C |
A |
15: 6,460,449 (GRCm39) |
D452E |
possibly damaging |
Het |
| Dnah3 |
A |
G |
7: 119,566,837 (GRCm39) |
I2463T |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,582,794 (GRCm39) |
T326A |
possibly damaging |
Het |
| F10 |
A |
G |
8: 13,100,781 (GRCm39) |
T232A |
probably benign |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gcdh |
A |
G |
8: 85,619,181 (GRCm39) |
S128P |
probably damaging |
Het |
| Golph3l |
G |
A |
3: 95,524,517 (GRCm39) |
R256Q |
probably benign |
Het |
| Igkv2-109 |
A |
G |
6: 68,279,853 (GRCm39) |
T25A |
probably damaging |
Het |
| Lcor |
T |
A |
19: 41,573,849 (GRCm39) |
V868D |
probably damaging |
Het |
| Lhx9 |
A |
T |
1: 138,760,518 (GRCm39) |
F286L |
probably damaging |
Het |
| Lrrtm1 |
A |
T |
6: 77,221,199 (GRCm39) |
N219Y |
probably damaging |
Het |
| Mei4 |
A |
G |
9: 81,809,642 (GRCm39) |
K242E |
probably damaging |
Het |
| Morc2b |
T |
C |
17: 33,357,014 (GRCm39) |
M253V |
probably damaging |
Het |
| Myh14 |
A |
G |
7: 44,274,457 (GRCm39) |
V1277A |
probably benign |
Het |
| N4bp2 |
T |
A |
5: 65,966,566 (GRCm39) |
W1335R |
probably damaging |
Het |
| Naip6 |
T |
A |
13: 100,452,797 (GRCm39) |
H88L |
probably benign |
Het |
| Niban1 |
G |
A |
1: 151,593,339 (GRCm39) |
V675M |
probably benign |
Het |
| Nlrp1b |
A |
T |
11: 71,119,243 (GRCm39) |
H17Q |
possibly damaging |
Het |
| Or1p1b |
A |
T |
11: 74,130,786 (GRCm39) |
Y132F |
probably damaging |
Het |
| P2ry12 |
C |
T |
3: 59,125,037 (GRCm39) |
V213I |
possibly damaging |
Het |
| Pcdhb21 |
C |
A |
18: 37,649,057 (GRCm39) |
P729T |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rnf39 |
C |
G |
17: 37,254,292 (GRCm39) |
R105G |
probably damaging |
Het |
| Sbk1 |
G |
A |
7: 125,891,711 (GRCm39) |
V382M |
possibly damaging |
Het |
| Sbno1 |
T |
C |
5: 124,512,684 (GRCm39) |
T1362A |
probably benign |
Het |
| Slc2a13 |
A |
G |
15: 91,160,281 (GRCm39) |
Y558H |
probably damaging |
Het |
| Tardbp |
A |
T |
4: 148,703,060 (GRCm39) |
N301K |
probably benign |
Het |
| Tet2 |
G |
T |
3: 133,172,895 (GRCm39) |
T1789N |
possibly damaging |
Het |
| Tln2 |
G |
A |
9: 67,226,702 (GRCm39) |
A1261V |
probably benign |
Het |
| Tmem131l |
A |
T |
3: 83,833,495 (GRCm39) |
Y789* |
probably null |
Het |
| Tnfrsf25 |
C |
T |
4: 152,201,877 (GRCm39) |
T118I |
possibly damaging |
Het |
| Trpc4 |
A |
T |
3: 54,223,226 (GRCm39) |
M721L |
probably benign |
Het |
| Vav3 |
A |
G |
3: 109,248,368 (GRCm39) |
K5R |
probably benign |
Het |
| Wdr24 |
C |
A |
17: 26,044,923 (GRCm39) |
|
probably null |
Het |
| Zc3hc1 |
A |
T |
6: 30,390,895 (GRCm39) |
I36K |
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 |
|
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 |
|
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'- CTCACCAAGGTAGCAGAGAG -3'
(R):5'- GGCTAGCATCATTTCAAGTACTG -3'
Sequencing Primer
(F):5'- CTAAGAAAATGTGGTTTTGGGATTAC -3'
(R):5'- ACTGAAATATCCAGTGTTTTGTTTTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation