Incidental Mutation 'R8198:Tmprss11g'
| ID |
635531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss11g
|
| Ensembl Gene |
ENSMUSG00000079451 |
| Gene Name |
transmembrane protease, serine 11g |
| Synonyms |
Desc4, 9930032O22Rik |
| MMRRC Submission |
067621-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R8198 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
86633736-86666459 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86646352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 72
(F72I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000134179]
[ENSMUST00000140095]
|
| AlphaFold |
Q8BZ10 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134179
AA Change: F72I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122709
Gene: ENSMUSG00000079451
AA Change: F72I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:SEA
|
48 |
150 |
1.5e-25 |
PFAM |
|
Tryp_SPc
|
185 |
411 |
1.39e-82 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140095
AA Change: F72I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000115540
Gene: ENSMUSG00000079451
AA Change: F72I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:SEA
|
45 |
154 |
1.3e-19 |
PFAM |
|
Tryp_SPc
|
172 |
398 |
1.39e-82 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024B05Rik |
T |
C |
14: 41,825,017 (GRCm39) |
*168R |
probably null |
Het |
| Adgrb1 |
C |
A |
15: 74,411,094 (GRCm39) |
T330K |
probably damaging |
Het |
| Ankrd27 |
T |
C |
7: 35,307,880 (GRCm39) |
V373A |
probably benign |
Het |
| Aoah |
C |
T |
13: 21,101,290 (GRCm39) |
P270L |
probably damaging |
Het |
| AU041133 |
C |
G |
10: 81,987,249 (GRCm39) |
P301A |
probably damaging |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| Cd2bp2 |
A |
G |
7: 126,793,576 (GRCm39) |
S204P |
possibly damaging |
Het |
| Clca4b |
C |
A |
3: 144,638,167 (GRCm39) |
G32C |
probably damaging |
Het |
| Clcn2 |
A |
G |
16: 20,525,946 (GRCm39) |
V808A |
probably damaging |
Het |
| Clec4d |
T |
C |
6: 123,244,965 (GRCm39) |
C82R |
probably damaging |
Het |
| Dennd1c |
T |
C |
17: 57,373,460 (GRCm39) |
D671G |
possibly damaging |
Het |
| Eml5 |
G |
A |
12: 98,825,145 (GRCm39) |
R691* |
probably null |
Het |
| Fcnb |
C |
T |
2: 27,968,330 (GRCm39) |
S209N |
possibly damaging |
Het |
| Gm4922 |
T |
C |
10: 18,659,340 (GRCm39) |
T461A |
probably benign |
Het |
| Gm9964 |
A |
G |
11: 79,187,405 (GRCm39) |
V14A |
unknown |
Het |
| Gnb3 |
T |
C |
6: 124,814,000 (GRCm39) |
Y196C |
probably benign |
Het |
| H4c2 |
C |
G |
13: 23,941,283 (GRCm39) |
Q94E |
possibly damaging |
Het |
| Hps1 |
C |
T |
19: 42,755,659 (GRCm39) |
R189Q |
probably benign |
Het |
| Iars2 |
G |
A |
1: 185,029,703 (GRCm39) |
T638I |
probably benign |
Het |
| Itpripl2 |
A |
G |
7: 118,089,819 (GRCm39) |
S247P |
probably damaging |
Het |
| Leng8 |
C |
A |
7: 4,147,170 (GRCm39) |
R523S |
possibly damaging |
Het |
| Lhfpl3 |
T |
A |
5: 23,478,333 (GRCm39) |
V72D |
probably benign |
Het |
| Lmntd2 |
A |
T |
7: 140,791,134 (GRCm39) |
M426K |
possibly damaging |
Het |
| Lsg1 |
A |
T |
16: 30,383,594 (GRCm39) |
V542E |
probably benign |
Het |
| Mphosph6 |
C |
T |
8: 118,519,449 (GRCm39) |
V108I |
probably benign |
Het |
| Mta2 |
A |
G |
19: 8,925,145 (GRCm39) |
T338A |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,580,664 (GRCm39) |
N98S |
probably benign |
Het |
| Or52h7 |
T |
A |
7: 104,214,140 (GRCm39) |
D237E |
probably benign |
Het |
| Or7a36 |
C |
A |
10: 78,820,443 (GRCm39) |
T273K |
probably benign |
Het |
| Or7a42 |
T |
A |
10: 78,791,558 (GRCm39) |
V173E |
probably damaging |
Het |
| Pgr |
T |
C |
9: 8,958,411 (GRCm39) |
V806A |
possibly damaging |
Het |
| Rad54b |
T |
C |
4: 11,612,440 (GRCm39) |
|
probably null |
Het |
| Sdad1 |
A |
T |
5: 92,439,811 (GRCm39) |
C405S |
probably damaging |
Het |
| Semp2l2a |
T |
A |
8: 13,887,056 (GRCm39) |
Y345F |
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,065,174 (GRCm39) |
I814V |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,744,829 (GRCm39) |
I3108V |
probably benign |
Het |
| Spink5 |
A |
T |
18: 44,125,947 (GRCm39) |
I409F |
probably benign |
Het |
| Syt13 |
C |
A |
2: 92,783,899 (GRCm39) |
L390M |
probably damaging |
Het |
| Taf5 |
T |
A |
19: 47,064,212 (GRCm39) |
V385E |
probably damaging |
Het |
| Tdrd9 |
T |
A |
12: 112,006,863 (GRCm39) |
V909E |
probably damaging |
Het |
| Tex9 |
G |
A |
9: 72,387,940 (GRCm39) |
|
probably benign |
Het |
| Timm10b |
G |
T |
7: 105,327,537 (GRCm39) |
E61* |
probably null |
Het |
| Trank1 |
T |
C |
9: 111,219,880 (GRCm39) |
C2206R |
probably benign |
Het |
| Uba52rt |
C |
A |
4: 3,973,346 (GRCm39) |
R72L |
probably benign |
Het |
| Unc45b |
GC |
G |
11: 82,816,814 (GRCm39) |
|
probably null |
Het |
| Unc93b1 |
T |
C |
19: 3,991,910 (GRCm39) |
S215P |
possibly damaging |
Het |
| Usp48 |
C |
T |
4: 137,348,470 (GRCm39) |
|
probably benign |
Het |
| Vmn1r81 |
A |
G |
7: 11,993,882 (GRCm39) |
V242A |
possibly damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,389,673 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Tmprss11g |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00423:Tmprss11g
|
APN |
5 |
86,640,050 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01611:Tmprss11g
|
APN |
5 |
86,638,640 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02417:Tmprss11g
|
APN |
5 |
86,638,750 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02677:Tmprss11g
|
APN |
5 |
86,640,149 (GRCm39) |
missense |
probably benign |
|
|
IGL02832:Tmprss11g
|
APN |
5 |
86,645,128 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02887:Tmprss11g
|
APN |
5 |
86,645,188 (GRCm39) |
splice site |
probably benign |
|
|
R0377:Tmprss11g
|
UTSW |
5 |
86,638,610 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0847:Tmprss11g
|
UTSW |
5 |
86,638,585 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1037:Tmprss11g
|
UTSW |
5 |
86,638,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1507:Tmprss11g
|
UTSW |
5 |
86,647,470 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1617:Tmprss11g
|
UTSW |
5 |
86,647,422 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1955:Tmprss11g
|
UTSW |
5 |
86,646,391 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2094:Tmprss11g
|
UTSW |
5 |
86,647,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2906:Tmprss11g
|
UTSW |
5 |
86,640,661 (GRCm39) |
intron |
probably benign |
|
|
R4730:Tmprss11g
|
UTSW |
5 |
86,637,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4730:Tmprss11g
|
UTSW |
5 |
86,637,091 (GRCm39) |
nonsense |
probably null |
|
|
R4934:Tmprss11g
|
UTSW |
5 |
86,644,401 (GRCm39) |
missense |
probably benign |
|
|
R4982:Tmprss11g
|
UTSW |
5 |
86,640,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5086:Tmprss11g
|
UTSW |
5 |
86,644,377 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5606:Tmprss11g
|
UTSW |
5 |
86,635,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5825:Tmprss11g
|
UTSW |
5 |
86,646,392 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6291:Tmprss11g
|
UTSW |
5 |
86,635,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6481:Tmprss11g
|
UTSW |
5 |
86,640,015 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6849:Tmprss11g
|
UTSW |
5 |
86,644,491 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6925:Tmprss11g
|
UTSW |
5 |
86,635,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6925:Tmprss11g
|
UTSW |
5 |
86,635,285 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7084:Tmprss11g
|
UTSW |
5 |
86,640,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7089:Tmprss11g
|
UTSW |
5 |
86,637,150 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7190:Tmprss11g
|
UTSW |
5 |
86,644,491 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7352:Tmprss11g
|
UTSW |
5 |
86,644,401 (GRCm39) |
missense |
not run |
|
|
R7432:Tmprss11g
|
UTSW |
5 |
86,644,366 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7514:Tmprss11g
|
UTSW |
5 |
86,645,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8490:Tmprss11g
|
UTSW |
5 |
86,639,976 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8495:Tmprss11g
|
UTSW |
5 |
86,640,119 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8706:Tmprss11g
|
UTSW |
5 |
86,644,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8730:Tmprss11g
|
UTSW |
5 |
86,638,837 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9158:Tmprss11g
|
UTSW |
5 |
86,637,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9224:Tmprss11g
|
UTSW |
5 |
86,640,003 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCCTGTGTACTGCATATG -3'
(R):5'- ACCAAGTGTCCAACGTAGAAG -3'
Sequencing Primer
(F):5'- CTGTGTACTGCATATGTGTATTCAC -3'
(R):5'- CCAAGTGTCCAACGTAGAAGTTATC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation