Incidental Mutation 'R6422:Tmprss11d'
| ID |
518205 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss11d
|
| Ensembl Gene |
ENSMUSG00000061259 |
| Gene Name |
transmembrane protease, serine 11d |
| Synonyms |
AsP |
| MMRRC Submission |
044563-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R6422 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
86450713-86521246 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86457284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 125
(Y125F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113079
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031175]
[ENSMUST00000122377]
|
| AlphaFold |
Q8VHK8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031175
AA Change: Y263F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031175
Gene: ENSMUSG00000061259
AA Change: Y263F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
SEA
|
41 |
164 |
4.92e-2 |
SMART |
|
Tryp_SPc
|
185 |
411 |
1.29e-86 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122377
AA Change: Y125F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113079
Gene: ENSMUSG00000061259
AA Change: Y125F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
47 |
273 |
1.29e-86 |
SMART |
|
| Meta Mutation Damage Score |
0.4571 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 91.8%
|
| Validation Efficiency |
97% (30/31) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a trypsin-like serine protease released from the submucosal serous glands onto mucous membrane. It is a type II integral membrane protein and has 29-38% identity in the sequence of the catalytic region with human hepsin, enteropeptidase, acrosin, and mast cell tryptase. The noncatalytic region has little similarity to other known proteins. This protein may play some biological role in the host defense system on the mucous membrane independently of or in cooperation with other substances in airway mucous or bronchial secretions. [provided by RefSeq, Jul 2008]
PHENOTYPE: Aged female mice homozygous for a knock-in allele exhibit increased lymphoma incidence. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430005L14Rik |
T |
A |
4: 154,045,381 (GRCm39) |
F137I |
probably damaging |
Het |
| Adam11 |
A |
G |
11: 102,665,109 (GRCm39) |
K417R |
possibly damaging |
Het |
| Btbd9 |
G |
A |
17: 30,749,230 (GRCm39) |
A28V |
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,492,626 (GRCm39) |
Y1890H |
probably damaging |
Het |
| Castor2 |
T |
A |
5: 134,164,549 (GRCm39) |
M170K |
probably benign |
Het |
| Cep162 |
G |
T |
9: 87,114,069 (GRCm39) |
N334K |
possibly damaging |
Het |
| Cep85l |
A |
T |
10: 53,167,876 (GRCm39) |
M634K |
possibly damaging |
Het |
| Col20a1 |
C |
A |
2: 180,656,612 (GRCm39) |
T1161N |
possibly damaging |
Het |
| Dip2b |
T |
A |
15: 100,096,892 (GRCm39) |
D1155E |
probably damaging |
Het |
| Dlst |
T |
A |
12: 85,177,659 (GRCm39) |
|
probably null |
Het |
| Dsc1 |
A |
C |
18: 20,228,090 (GRCm39) |
L422R |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,747,603 (GRCm39) |
W1699R |
probably damaging |
Het |
| Gm14443 |
G |
A |
2: 175,012,174 (GRCm39) |
Q91* |
probably null |
Het |
| Gm8159 |
T |
C |
14: 15,850,210 (GRCm39) |
I143T |
probably damaging |
Het |
| Il4i1 |
G |
T |
7: 44,489,560 (GRCm39) |
A442S |
probably damaging |
Het |
| Kif26a |
T |
G |
12: 112,135,309 (GRCm39) |
L337R |
possibly damaging |
Het |
| Lat2 |
T |
C |
5: 134,632,015 (GRCm39) |
D144G |
probably benign |
Het |
| Ndst1 |
G |
T |
18: 60,836,025 (GRCm39) |
H419Q |
probably benign |
Het |
| Notch4 |
T |
C |
17: 34,803,533 (GRCm39) |
I1484T |
probably benign |
Het |
| Or51v14 |
T |
G |
7: 103,261,221 (GRCm39) |
E113A |
probably damaging |
Het |
| Paxbp1 |
A |
T |
16: 90,820,332 (GRCm39) |
M697K |
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,937,992 (GRCm39) |
Y1246C |
probably damaging |
Het |
| Prr5 |
C |
T |
15: 84,578,005 (GRCm39) |
R96C |
probably damaging |
Het |
| Ptpn7 |
G |
T |
1: 135,062,240 (GRCm39) |
C62F |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sall2 |
A |
C |
14: 52,550,181 (GRCm39) |
*1003G |
probably null |
Het |
| Slc5a4b |
C |
A |
10: 75,939,696 (GRCm39) |
V147F |
probably damaging |
Het |
| Snapc4 |
A |
G |
2: 26,258,315 (GRCm39) |
W702R |
probably benign |
Het |
| Tbc1d32 |
A |
T |
10: 55,904,157 (GRCm39) |
C1203* |
probably null |
Het |
| Tpp1 |
G |
A |
7: 105,396,163 (GRCm39) |
T512I |
probably benign |
Het |
| Tyw5 |
G |
A |
1: 57,440,570 (GRCm39) |
A64V |
probably damaging |
Het |
|
| Other mutations in Tmprss11d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02393:Tmprss11d
|
APN |
5 |
86,451,471 (GRCm39) |
makesense |
probably null |
|
|
IGL02519:Tmprss11d
|
APN |
5 |
86,454,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02666:Tmprss11d
|
APN |
5 |
86,479,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02974:Tmprss11d
|
APN |
5 |
86,454,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03305:Tmprss11d
|
APN |
5 |
86,474,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0440:Tmprss11d
|
UTSW |
5 |
86,486,671 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1261:Tmprss11d
|
UTSW |
5 |
86,457,239 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1544:Tmprss11d
|
UTSW |
5 |
86,486,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2018:Tmprss11d
|
UTSW |
5 |
86,487,413 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2036:Tmprss11d
|
UTSW |
5 |
86,457,128 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2267:Tmprss11d
|
UTSW |
5 |
86,521,208 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4063:Tmprss11d
|
UTSW |
5 |
86,457,177 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4087:Tmprss11d
|
UTSW |
5 |
86,457,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4665:Tmprss11d
|
UTSW |
5 |
86,457,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4666:Tmprss11d
|
UTSW |
5 |
86,457,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4784:Tmprss11d
|
UTSW |
5 |
86,454,140 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4785:Tmprss11d
|
UTSW |
5 |
86,454,140 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5077:Tmprss11d
|
UTSW |
5 |
86,457,122 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5201:Tmprss11d
|
UTSW |
5 |
86,457,214 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5350:Tmprss11d
|
UTSW |
5 |
86,486,746 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5523:Tmprss11d
|
UTSW |
5 |
86,486,729 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5618:Tmprss11d
|
UTSW |
5 |
86,454,154 (GRCm39) |
missense |
probably benign |
|
|
R5643:Tmprss11d
|
UTSW |
5 |
86,474,388 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5834:Tmprss11d
|
UTSW |
5 |
86,454,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6706:Tmprss11d
|
UTSW |
5 |
86,478,962 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6735:Tmprss11d
|
UTSW |
5 |
86,457,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6778:Tmprss11d
|
UTSW |
5 |
86,457,209 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7013:Tmprss11d
|
UTSW |
5 |
86,474,432 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7273:Tmprss11d
|
UTSW |
5 |
86,485,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7488:Tmprss11d
|
UTSW |
5 |
86,474,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7627:Tmprss11d
|
UTSW |
5 |
86,457,365 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7742:Tmprss11d
|
UTSW |
5 |
86,451,493 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7937:Tmprss11d
|
UTSW |
5 |
86,457,349 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8419:Tmprss11d
|
UTSW |
5 |
86,457,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8794:Tmprss11d
|
UTSW |
5 |
86,486,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTACTTACCTCCATATGTGAGAG -3'
(R):5'- AAACATTCATGGGATGTTGGTG -3'
Sequencing Primer
(F):5'- ATATGTGAGAGATCCCCATCCTG -3'
(R):5'- TGTTGGTGGTAAATACAAAACACAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation