Incidental Mutation 'R1273:Tmprss11a'
| ID |
151362 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss11a
|
| Ensembl Gene |
ENSMUSG00000072845 |
| Gene Name |
transmembrane protease, serine 11a |
| Synonyms |
LOC194597 |
| MMRRC Submission |
039339-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1273 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
86558269-86616849 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86562447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 299
(R299S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098634
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101073]
|
| AlphaFold |
Q3UQ41 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101073
AA Change: R299S
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000098634
Gene: ENSMUSG00000072845
AA Change: R299S
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198504
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
|
| 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: 11 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
C |
11: 110,217,491 (GRCm39) |
K122E |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,041,359 (GRCm39) |
F2579S |
probably damaging |
Het |
| Dnah12 |
C |
T |
14: 26,460,375 (GRCm39) |
Q934* |
probably null |
Het |
| Fsip2 |
G |
A |
2: 82,819,752 (GRCm39) |
D5162N |
possibly damaging |
Het |
| Lrp6 |
A |
G |
6: 134,444,470 (GRCm39) |
|
probably null |
Het |
| Mkx |
T |
G |
18: 7,002,460 (GRCm39) |
T29P |
probably benign |
Het |
| Nsmce3 |
A |
G |
7: 64,522,339 (GRCm39) |
Y110H |
probably benign |
Het |
| Or8b42 |
T |
C |
9: 38,341,980 (GRCm39) |
V134A |
probably benign |
Het |
| Saal1 |
A |
T |
7: 46,342,366 (GRCm39) |
V359E |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
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 |
|
|
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 |
|
R4530:Tmprss11a
|
UTSW |
5 |
86,576,540 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
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'- GGAAATGTCAGCGTGTCTGTTTCCC -3'
(R):5'- AGGTTTTCCAGAAAACAATTGGCAATCC -3'
Sequencing Primer
(F):5'- CCTGCAGGCATCGTAATTTC -3'
(R):5'- ggtctcactgtgtaatcctgtc -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation