Incidental Mutation 'R8706:Tmprss11g'
| ID |
669269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss11g
|
| Ensembl Gene |
ENSMUSG00000079451 |
| Gene Name |
transmembrane protease, serine 11g |
| Synonyms |
Desc4, 9930032O22Rik |
| MMRRC Submission |
068560-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R8706 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
86633736-86666459 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86644404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 147
(S147C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000134179]
[ENSMUST00000140095]
|
| AlphaFold |
Q8BZ10 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134179
AA Change: S147C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122709
Gene: ENSMUSG00000079451
AA Change: S147C
| 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 damaging
Transcript: ENSMUST00000140095
AA Change: S147C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115540
Gene: ENSMUSG00000079451
AA Change: S147C
| 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 |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adpgk |
C |
T |
9: 59,222,456 (GRCm39) |
T461I |
probably benign |
Het |
| Adra2b |
A |
G |
2: 127,206,487 (GRCm39) |
T335A |
probably benign |
Het |
| Ap3b1 |
T |
C |
13: 94,545,353 (GRCm39) |
|
probably null |
Het |
| C1rl |
T |
C |
6: 124,470,191 (GRCm39) |
|
probably null |
Het |
| Ccdc142 |
A |
G |
6: 83,080,678 (GRCm39) |
E470G |
probably damaging |
Het |
| Ccm2 |
T |
A |
11: 6,539,447 (GRCm39) |
I163N |
possibly damaging |
Het |
| Cdk5rap2 |
A |
T |
4: 70,157,562 (GRCm39) |
F1596L |
probably benign |
Het |
| Chrna4 |
A |
T |
2: 180,679,307 (GRCm39) |
F47I |
probably damaging |
Het |
| Cx3cl1 |
A |
G |
8: 95,506,876 (GRCm39) |
T294A |
probably benign |
Het |
| Dcun1d4 |
C |
T |
5: 73,714,658 (GRCm39) |
T275M |
probably damaging |
Het |
| Dpp4 |
T |
C |
2: 62,208,647 (GRCm39) |
I166V |
probably benign |
Het |
| Dynap |
C |
T |
18: 70,374,062 (GRCm39) |
E155K |
unknown |
Het |
| Fam171b |
A |
G |
2: 83,690,864 (GRCm39) |
T276A |
probably benign |
Het |
| Fmo4 |
G |
A |
1: 162,621,592 (GRCm39) |
Q540* |
probably null |
Het |
| Gtf2i |
C |
A |
5: 134,278,733 (GRCm39) |
V633F |
probably damaging |
Het |
| Kmt5c |
G |
T |
7: 4,749,153 (GRCm39) |
R262L |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,288,610 (GRCm39) |
L678P |
probably benign |
Het |
| Mrps27 |
T |
C |
13: 99,541,508 (GRCm39) |
V163A |
probably damaging |
Het |
| Myh7b |
G |
A |
2: 155,453,669 (GRCm39) |
|
probably null |
Het |
| Myo15a |
A |
G |
11: 60,370,443 (GRCm39) |
T1068A |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,145,010 (GRCm39) |
E369G |
unknown |
Het |
| Neb |
T |
A |
2: 52,181,326 (GRCm39) |
M1094L |
probably benign |
Het |
| Osbpl10 |
T |
C |
9: 115,036,688 (GRCm39) |
L228P |
probably damaging |
Het |
| Phip |
T |
A |
9: 82,787,765 (GRCm39) |
R799S |
possibly damaging |
Het |
| Prkn |
T |
C |
17: 11,456,472 (GRCm39) |
S99P |
probably benign |
Het |
| Rassf5 |
G |
T |
1: 131,172,782 (GRCm39) |
T29N |
probably benign |
Het |
| Spata31g1 |
A |
G |
4: 42,971,776 (GRCm39) |
K370E |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,569,134 (GRCm39) |
T27253I |
probably damaging |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,715 (GRCm39) |
V15E |
possibly damaging |
Het |
| Wnt6 |
A |
C |
1: 74,821,947 (GRCm39) |
D176A |
possibly damaging |
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 |
|
R8198:Tmprss11g
|
UTSW |
5 |
86,646,352 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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'- TACCTAGTGACTCCGGAGAC -3'
(R):5'- GGGAAGCTCATGACAATAAACTATG -3'
Sequencing Primer
(F):5'- ACTCCGGAGACCTAGAATAAAAATAG -3'
(R):5'- CCAGTAACGATGGGGTAA -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation