Incidental Mutation 'R1402:Tmprss11e'
| ID |
188567 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss11e
|
| Ensembl Gene |
ENSMUSG00000054537 |
| Gene Name |
transmembrane protease, serine 11e |
| Synonyms |
DESC1 |
| MMRRC Submission |
039464-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R1402 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
86853045-86893666 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 86863477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 196
(T196I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124534
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161306]
|
| AlphaFold |
Q5S248 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161306
AA Change: T196I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124534
Gene: ENSMUSG00000054537
AA Change: T196I
| 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 |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aqp8 |
T |
A |
7: 123,065,862 (GRCm39) |
V219E |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 75,004,528 (GRCm39) |
|
probably benign |
Het |
| Bves |
C |
T |
10: 45,223,961 (GRCm39) |
T207M |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,226,676 (GRCm39) |
S409G |
probably benign |
Het |
| Ehmt2 |
C |
T |
17: 35,125,757 (GRCm39) |
T607I |
probably benign |
Het |
| H2-T22 |
A |
T |
17: 36,351,161 (GRCm39) |
I307N |
possibly damaging |
Het |
| Itih3 |
T |
C |
14: 30,630,665 (GRCm39) |
D882G |
probably damaging |
Het |
| Kmt5c |
G |
T |
7: 4,745,252 (GRCm39) |
R81L |
possibly damaging |
Het |
| Mcm3ap |
C |
T |
10: 76,313,748 (GRCm39) |
|
probably benign |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Nr1i2 |
A |
G |
16: 38,073,245 (GRCm39) |
S244P |
probably damaging |
Het |
| Pcx |
A |
G |
19: 4,652,058 (GRCm39) |
D101G |
possibly damaging |
Het |
| Prkch |
T |
C |
12: 73,632,163 (GRCm39) |
V76A |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,279,533 (GRCm39) |
Y655C |
probably damaging |
Het |
| Thsd1 |
A |
G |
8: 22,749,384 (GRCm39) |
K691E |
possibly damaging |
Het |
| Trappc13 |
A |
G |
13: 104,286,624 (GRCm39) |
V211A |
probably damaging |
Het |
| Vav1 |
C |
A |
17: 57,610,849 (GRCm39) |
L472I |
probably benign |
Het |
| Wdr25 |
G |
A |
12: 108,992,465 (GRCm39) |
E459K |
probably damaging |
Het |
| Zdbf2 |
A |
T |
1: 63,342,786 (GRCm39) |
E388D |
possibly damaging |
Het |
| Zfp663 |
T |
C |
2: 165,195,890 (GRCm39) |
K110E |
probably benign |
Het |
| Zfp78 |
C |
A |
7: 6,381,618 (GRCm39) |
H223N |
probably damaging |
Het |
|
| Other mutations in Tmprss11e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01737:Tmprss11e
|
APN |
5 |
86,867,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAAAATCACACTCACTTTCCCTCGG -3'
(R):5'- GGACCTTGCTATTGCAGAAGGTATCAC -3'
Sequencing Primer
(F):5'- GGCCCCATCCTCAAAGG -3'
(R):5'- CACAGATGGAATGCCTTTCTTTG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation