Incidental Mutation 'R1202:Tmprss11a'
| ID |
100192 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss11a
|
| Ensembl Gene |
ENSMUSG00000072845 |
| Gene Name |
transmembrane protease, serine 11a |
| Synonyms |
LOC194597 |
| MMRRC Submission |
039272-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1202 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
86558269-86616849 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 86559784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098634
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101073]
|
| AlphaFold |
Q3UQ41 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000101073
|
| SMART Domains |
Protein: ENSMUSP00000098634
Gene: ENSMUSG00000072845
| 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: 98.8%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 86.8%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
T |
C |
4: 144,250,236 (GRCm39) |
F137L |
probably benign |
Het |
| Cct3 |
T |
C |
3: 88,225,835 (GRCm39) |
|
probably null |
Het |
| Fermt3 |
A |
G |
19: 6,980,850 (GRCm39) |
F294L |
probably damaging |
Het |
| Fmn2 |
A |
T |
1: 174,440,101 (GRCm39) |
K58* |
probably null |
Het |
| Fndc5 |
G |
A |
4: 129,033,238 (GRCm39) |
V102M |
probably damaging |
Het |
| Gle1 |
C |
T |
2: 29,839,277 (GRCm39) |
A523V |
probably damaging |
Het |
| Hoxd11 |
C |
T |
2: 74,512,921 (GRCm39) |
A62V |
possibly damaging |
Het |
| Il23r |
A |
G |
6: 67,455,937 (GRCm39) |
V177A |
possibly damaging |
Het |
| Impdh2 |
G |
A |
9: 108,440,386 (GRCm39) |
R224Q |
probably damaging |
Het |
| Larp4b |
A |
G |
13: 9,216,362 (GRCm39) |
T516A |
possibly damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,714,748 (GRCm39) |
Y431H |
probably benign |
Het |
| N4bp1 |
T |
C |
8: 87,571,515 (GRCm39) |
T828A |
probably benign |
Het |
| Nphp4 |
G |
A |
4: 152,573,186 (GRCm39) |
|
probably null |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Pabpc1l |
G |
T |
2: 163,879,091 (GRCm39) |
V313F |
possibly damaging |
Het |
| Pacs1 |
G |
A |
19: 5,185,265 (GRCm39) |
P885S |
probably damaging |
Het |
| Scn3a |
T |
C |
2: 65,336,491 (GRCm39) |
N705S |
probably benign |
Het |
| Sema4g |
G |
T |
19: 44,986,696 (GRCm39) |
R383L |
probably benign |
Het |
| Slc26a10 |
A |
G |
10: 127,009,217 (GRCm39) |
L648P |
probably damaging |
Het |
| St8sia2 |
A |
T |
7: 73,621,783 (GRCm39) |
V37E |
probably benign |
Het |
| Tmem209 |
C |
G |
6: 30,508,789 (GRCm39) |
V6L |
probably benign |
Het |
| Ube2o |
C |
T |
11: 116,432,408 (GRCm39) |
D853N |
probably damaging |
Het |
| Usp17lb |
G |
A |
7: 104,491,695 (GRCm39) |
S6F |
probably damaging |
Het |
| Vmn2r74 |
G |
A |
7: 85,610,545 (GRCm39) |
T49I |
possibly damaging |
Het |
| Zfp236 |
T |
A |
18: 82,646,291 (GRCm39) |
T1041S |
probably benign |
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 |
|
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 |
|
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'- GTGCCAATGCCACCAAATGGATG -3'
(R):5'- TTGATGAGAAATCCCGCCTGCC -3'
Sequencing Primer
(F):5'- ACATCTATCTGTAGCGAGTTAGAGAC -3'
(R):5'- aaggaaaaactacttgcctcaac -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation