Incidental Mutation 'IGL01737:Tmprss11e'
| ID |
105729 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmprss11e
|
| Ensembl Gene |
ENSMUSG00000054537 |
| Gene Name |
transmembrane protease, serine 11e |
| Synonyms |
DESC1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
IGL01737
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
86853045-86893666 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86867593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 159
(V159A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124534
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161306]
|
| AlphaFold |
Q5S248 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161306
AA Change: V159A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124534
Gene: ENSMUSG00000054537
AA Change: V159A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SEA
|
50 |
153 |
7.6e-24 |
PFAM |
|
Tryp_SPc
|
191 |
417 |
1.58e-86 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
A |
G |
13: 104,526,643 (GRCm39) |
I524V |
probably damaging |
Het |
| Atxn2 |
T |
A |
5: 121,935,407 (GRCm39) |
M336K |
probably damaging |
Het |
| Bcr |
T |
A |
10: 74,990,783 (GRCm39) |
F763Y |
probably damaging |
Het |
| Bdnf |
A |
G |
2: 109,554,100 (GRCm39) |
Y158C |
probably damaging |
Het |
| Ccdc92 |
T |
C |
5: 124,912,920 (GRCm39) |
E203G |
probably damaging |
Het |
| Cyp2j12 |
T |
C |
4: 96,010,895 (GRCm39) |
*72W |
probably null |
Het |
| Def6 |
G |
T |
17: 28,442,701 (GRCm39) |
R288L |
possibly damaging |
Het |
| Foxn1 |
T |
G |
11: 78,251,732 (GRCm39) |
S500R |
possibly damaging |
Het |
| Gss |
T |
C |
2: 155,409,726 (GRCm39) |
K77E |
probably damaging |
Het |
| Habp2 |
G |
A |
19: 56,304,739 (GRCm39) |
G410D |
probably benign |
Het |
| Krt36 |
A |
T |
11: 99,994,946 (GRCm39) |
C209S |
possibly damaging |
Het |
| Mmrn1 |
T |
C |
6: 60,954,145 (GRCm39) |
F809L |
probably benign |
Het |
| Mptx2 |
C |
A |
1: 173,102,408 (GRCm39) |
V94F |
probably damaging |
Het |
| Myh4 |
G |
T |
11: 67,134,245 (GRCm39) |
|
probably benign |
Het |
| N4bp2l1 |
G |
T |
5: 150,517,781 (GRCm39) |
H41N |
possibly damaging |
Het |
| Ndnf |
T |
A |
6: 65,680,539 (GRCm39) |
S273T |
probably benign |
Het |
| Nt5c1b |
A |
T |
12: 10,440,108 (GRCm39) |
Y624F |
possibly damaging |
Het |
| Prss8 |
C |
T |
7: 127,525,752 (GRCm39) |
V256M |
probably damaging |
Het |
| Ramp1 |
T |
C |
1: 91,150,821 (GRCm39) |
|
probably benign |
Het |
| Sf3b2 |
A |
G |
19: 5,329,866 (GRCm39) |
|
probably benign |
Het |
| Tfdp2 |
G |
A |
9: 96,182,465 (GRCm39) |
R235Q |
possibly damaging |
Het |
| Tle1 |
C |
T |
4: 72,116,058 (GRCm39) |
|
probably benign |
Het |
| Trim12c |
A |
G |
7: 103,997,269 (GRCm39) |
C96R |
probably damaging |
Het |
| Usp24 |
A |
G |
4: 106,244,931 (GRCm39) |
D1256G |
probably benign |
Het |
|
| Other mutations in Tmprss11e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02111:Tmprss11e
|
APN |
5 |
86,867,660 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02257:Tmprss11e
|
APN |
5 |
86,872,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0610:Tmprss11e
|
UTSW |
5 |
86,855,206 (GRCm39) |
nonsense |
probably null |
|
|
R1402:Tmprss11e
|
UTSW |
5 |
86,863,477 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1402:Tmprss11e
|
UTSW |
5 |
86,863,477 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1528:Tmprss11e
|
UTSW |
5 |
86,872,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1555:Tmprss11e
|
UTSW |
5 |
86,863,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2157:Tmprss11e
|
UTSW |
5 |
86,861,587 (GRCm39) |
missense |
probably benign |
|
|
R2939:Tmprss11e
|
UTSW |
5 |
86,869,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3743:Tmprss11e
|
UTSW |
5 |
86,857,315 (GRCm39) |
nonsense |
probably null |
|
|
R4072:Tmprss11e
|
UTSW |
5 |
86,863,502 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4073:Tmprss11e
|
UTSW |
5 |
86,863,502 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4074:Tmprss11e
|
UTSW |
5 |
86,863,502 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4650:Tmprss11e
|
UTSW |
5 |
86,875,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5371:Tmprss11e
|
UTSW |
5 |
86,875,225 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5623:Tmprss11e
|
UTSW |
5 |
86,857,315 (GRCm39) |
nonsense |
probably null |
|
|
R6793:Tmprss11e
|
UTSW |
5 |
86,863,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7466:Tmprss11e
|
UTSW |
5 |
86,857,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8790:Tmprss11e
|
UTSW |
5 |
86,855,259 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8969:Tmprss11e
|
UTSW |
5 |
86,861,758 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9571:Tmprss11e
|
UTSW |
5 |
86,875,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation