Incidental Mutation 'R4530:Tmprss11a'
| ID |
333072 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss11a
|
| Ensembl Gene |
ENSMUSG00000072845 |
| Gene Name |
transmembrane protease, serine 11a |
| Synonyms |
LOC194597 |
| MMRRC Submission |
041770-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4530 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
86558269-86616849 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 86576540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 104
(V104L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098634
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101073]
|
| AlphaFold |
Q3UQ41 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101073
AA Change: V104L
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000098634
Gene: ENSMUSG00000072845
AA Change: V104L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
32 |
N/A |
INTRINSIC |
|
Pfam:SEA
|
36 |
135 |
3.2e-23 |
PFAM |
|
Tryp_SPc
|
157 |
383 |
1.98e-87 |
SMART |
|
| Meta Mutation Damage Score |
0.2030 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
93% (37/40) |
| MGI Phenotype |
PHENOTYPE: Homozygous mice for a targeted mutation appear normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
T |
C |
14: 56,016,485 (GRCm39) |
D322G |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,093,948 (GRCm39) |
F2157I |
probably damaging |
Het |
| Arhgap42 |
T |
C |
9: 9,011,433 (GRCm39) |
D451G |
probably damaging |
Het |
| Arhgef7 |
T |
C |
8: 11,850,802 (GRCm39) |
M144T |
possibly damaging |
Het |
| Arid4b |
C |
A |
13: 14,301,040 (GRCm39) |
T41N |
probably damaging |
Het |
| Axin1 |
T |
A |
17: 26,407,146 (GRCm39) |
Y580N |
probably benign |
Het |
| Cdc27 |
T |
C |
11: 104,419,252 (GRCm39) |
N227D |
possibly damaging |
Het |
| Cetn4 |
C |
T |
3: 37,364,094 (GRCm39) |
V39I |
probably benign |
Het |
| Clec2h |
A |
G |
6: 128,639,457 (GRCm39) |
D18G |
possibly damaging |
Het |
| Clec4e |
T |
C |
6: 123,266,733 (GRCm39) |
|
probably benign |
Het |
| Cntnap4 |
T |
C |
8: 113,584,842 (GRCm39) |
I1093T |
probably benign |
Het |
| Dner |
G |
T |
1: 84,560,736 (GRCm39) |
N136K |
probably damaging |
Het |
| Gpr158 |
A |
G |
2: 21,373,811 (GRCm39) |
S249G |
probably benign |
Het |
| Il16 |
A |
C |
7: 83,330,518 (GRCm39) |
|
probably benign |
Het |
| Intu |
T |
G |
3: 40,637,794 (GRCm39) |
C427G |
possibly damaging |
Het |
| Kif21a |
A |
C |
15: 90,852,292 (GRCm39) |
|
probably null |
Het |
| Lin54 |
G |
A |
5: 100,594,419 (GRCm39) |
T582I |
possibly damaging |
Het |
| Mroh7 |
T |
C |
4: 106,577,634 (GRCm39) |
E348G |
possibly damaging |
Het |
| Or10g6 |
G |
A |
9: 39,934,589 (GRCm39) |
R300K |
probably benign |
Het |
| Or2h1b |
C |
T |
17: 37,462,498 (GRCm39) |
V122M |
possibly damaging |
Het |
| Or8g2b |
G |
T |
9: 39,751,379 (GRCm39) |
M216I |
probably benign |
Het |
| Or8k38 |
T |
C |
2: 86,487,905 (GRCm39) |
D299G |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Plbd1 |
T |
A |
6: 136,628,823 (GRCm39) |
I82F |
probably benign |
Het |
| Prss43 |
A |
T |
9: 110,658,572 (GRCm39) |
M291L |
probably benign |
Het |
| Rap1gds1 |
T |
C |
3: 138,663,186 (GRCm39) |
N338D |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
| Stip1 |
G |
T |
19: 7,013,026 (GRCm39) |
N19K |
probably benign |
Het |
| Tat |
T |
A |
8: 110,722,842 (GRCm39) |
F301L |
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,267,736 (GRCm39) |
|
probably benign |
Het |
| Tubgcp3 |
G |
T |
8: 12,713,932 (GRCm39) |
L62I |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,852,147 (GRCm39) |
F938I |
probably damaging |
Het |
| Wrap73 |
A |
G |
4: 154,241,164 (GRCm39) |
|
probably benign |
Het |
| Xndc1 |
C |
A |
7: 101,727,942 (GRCm39) |
N85K |
probably benign |
Het |
| Zfp282 |
C |
T |
6: 47,867,567 (GRCm39) |
P248S |
probably benign |
Het |
| Zfp930 |
C |
T |
8: 69,681,483 (GRCm39) |
Q393* |
probably null |
Het |
|
| Other mutations in Tmprss11a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01596:Tmprss11a
|
APN |
5 |
86,570,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02413:Tmprss11a
|
APN |
5 |
86,570,507 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02533:Tmprss11a
|
APN |
5 |
86,562,386 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1202:Tmprss11a
|
UTSW |
5 |
86,559,784 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1273:Tmprss11a
|
UTSW |
5 |
86,562,447 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1704:Tmprss11a
|
UTSW |
5 |
86,576,561 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1756:Tmprss11a
|
UTSW |
5 |
86,568,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Tmprss11a
|
UTSW |
5 |
86,567,891 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1967:Tmprss11a
|
UTSW |
5 |
86,579,702 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2944:Tmprss11a
|
UTSW |
5 |
86,576,511 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3881:Tmprss11a
|
UTSW |
5 |
86,593,664 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4512:Tmprss11a
|
UTSW |
5 |
86,576,437 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4515:Tmprss11a
|
UTSW |
5 |
86,568,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4543:Tmprss11a
|
UTSW |
5 |
86,559,668 (GRCm39) |
nonsense |
probably null |
|
|
R4881:Tmprss11a
|
UTSW |
5 |
86,570,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5066:Tmprss11a
|
UTSW |
5 |
86,567,859 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5186:Tmprss11a
|
UTSW |
5 |
86,567,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5254:Tmprss11a
|
UTSW |
5 |
86,559,665 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5313:Tmprss11a
|
UTSW |
5 |
86,559,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6516:Tmprss11a
|
UTSW |
5 |
86,567,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6920:Tmprss11a
|
UTSW |
5 |
86,576,494 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7018:Tmprss11a
|
UTSW |
5 |
86,576,429 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7566:Tmprss11a
|
UTSW |
5 |
86,591,993 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7962:Tmprss11a
|
UTSW |
5 |
86,567,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9299:Tmprss11a
|
UTSW |
5 |
86,570,361 (GRCm39) |
nonsense |
probably null |
|
|
R9479:Tmprss11a
|
UTSW |
5 |
86,562,402 (GRCm39) |
nonsense |
probably null |
|
|
R9529:Tmprss11a
|
UTSW |
5 |
86,576,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9591:Tmprss11a
|
UTSW |
5 |
86,567,897 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
X0057:Tmprss11a
|
UTSW |
5 |
86,593,667 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0063:Tmprss11a
|
UTSW |
5 |
86,562,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Tmprss11a
|
UTSW |
5 |
86,576,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTTGGAATGGGAATGACAAGTG -3'
(R):5'- ACTTAAGTCAGAGAGTAGCACGTG -3'
Sequencing Primer
(F):5'- TGACAAGTGAGTTTACGAGTACATG -3'
(R):5'- GTAGCACGTGGAGGAGC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation