Incidental Mutation 'R0178:Tmprss7'
| ID |
23785 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss7
|
| Ensembl Gene |
ENSMUSG00000033177 |
| Gene Name |
transmembrane serine protease 7 |
| Synonyms |
B230219I23Rik, LOC385645, matriptase-3 |
| MMRRC Submission |
038446-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R0178 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
16 |
| Chromosomal Location |
45476678-45514021 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 45511206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Cysteine
at position 57
(W57C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114562]
|
| AlphaFold |
Q8BIK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114562
AA Change: W57C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: W57C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
55 |
N/A |
INTRINSIC |
|
transmembrane domain
|
63 |
85 |
N/A |
INTRINSIC |
|
Pfam:SEA
|
94 |
198 |
4.6e-23 |
PFAM |
|
CUB
|
233 |
346 |
9.35e-4 |
SMART |
|
Pfam:CUB
|
351 |
454 |
3e-7 |
PFAM |
|
LDLa
|
469 |
506 |
5.63e-13 |
SMART |
|
LDLa
|
510 |
541 |
5.56e-2 |
SMART |
|
LDLa
|
544 |
582 |
8.95e-7 |
SMART |
|
Tryp_SPc
|
591 |
821 |
7.17e-85 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169421
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178150
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178323
|
| Meta Mutation Damage Score |
0.1033 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 88.8%
|
| Validation Efficiency |
95% (69/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
T |
G |
14: 35,533,435 (GRCm39) |
N111T |
probably benign |
Het |
| Abca1 |
T |
C |
4: 53,081,953 (GRCm39) |
D769G |
possibly damaging |
Het |
| Adcy6 |
G |
T |
15: 98,502,096 (GRCm39) |
Q173K |
probably benign |
Het |
| Amotl1 |
G |
A |
9: 14,460,069 (GRCm39) |
A890V |
probably benign |
Het |
| Arfgap2 |
C |
T |
2: 91,097,706 (GRCm39) |
A141V |
probably benign |
Het |
| Asb2 |
G |
A |
12: 103,291,811 (GRCm39) |
P324L |
probably damaging |
Het |
| Brd10 |
A |
G |
19: 29,732,188 (GRCm39) |
S342P |
probably damaging |
Het |
| Cacna1g |
G |
A |
11: 94,354,309 (GRCm39) |
T202I |
probably damaging |
Het |
| Capn5 |
A |
G |
7: 97,782,098 (GRCm39) |
L214P |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 104,902,776 (GRCm39) |
D489V |
possibly damaging |
Het |
| Cers5 |
C |
A |
15: 99,644,905 (GRCm39) |
|
probably benign |
Het |
| Chct1 |
A |
G |
11: 85,069,264 (GRCm39) |
H94R |
probably benign |
Het |
| Chrnb3 |
T |
A |
8: 27,883,392 (GRCm39) |
V111D |
probably damaging |
Het |
| Clec2m |
T |
C |
6: 129,303,786 (GRCm39) |
R60G |
probably benign |
Het |
| Colec12 |
C |
T |
18: 9,858,921 (GRCm39) |
P568L |
unknown |
Het |
| Cyp2r1 |
T |
C |
7: 114,149,643 (GRCm39) |
E248G |
probably damaging |
Het |
| Dnaaf11 |
A |
C |
15: 66,325,950 (GRCm39) |
D208E |
probably benign |
Het |
| Dnmt3b |
A |
G |
2: 153,516,938 (GRCm39) |
T536A |
probably benign |
Het |
| Eef2 |
G |
A |
10: 81,016,126 (GRCm39) |
V496M |
possibly damaging |
Het |
| Fam118a |
T |
C |
15: 84,930,081 (GRCm39) |
|
probably benign |
Het |
| Fer1l6 |
T |
A |
15: 58,509,763 (GRCm39) |
|
probably null |
Het |
| Fhad1 |
A |
C |
4: 141,682,651 (GRCm39) |
F497V |
probably benign |
Het |
| Gbe1 |
G |
A |
16: 70,275,274 (GRCm39) |
G358D |
probably damaging |
Het |
| Gdf10 |
A |
G |
14: 33,646,058 (GRCm39) |
D69G |
probably damaging |
Het |
| Ggt6 |
A |
G |
11: 72,327,644 (GRCm39) |
H150R |
possibly damaging |
Het |
| Gm45713 |
A |
T |
7: 44,783,882 (GRCm39) |
L110Q |
probably damaging |
Het |
| Gm9847 |
T |
C |
12: 14,544,649 (GRCm39) |
|
noncoding transcript |
Het |
| Grwd1 |
T |
C |
7: 45,480,054 (GRCm39) |
E51G |
probably damaging |
Het |
| Gvin3 |
A |
T |
7: 106,201,028 (GRCm39) |
Y739N |
probably damaging |
Het |
| H13 |
A |
G |
2: 152,522,987 (GRCm39) |
Y100C |
probably damaging |
Het |
| Kcne1 |
A |
C |
16: 92,145,697 (GRCm39) |
M49R |
probably damaging |
Het |
| Kcnma1 |
C |
T |
14: 23,576,835 (GRCm39) |
R236H |
probably damaging |
Het |
| Knl1 |
T |
A |
2: 118,888,886 (GRCm39) |
|
probably benign |
Het |
| Krt40 |
T |
C |
11: 99,432,565 (GRCm39) |
I150M |
probably damaging |
Het |
| Ldb2 |
A |
T |
5: 44,630,841 (GRCm39) |
V300E |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,615,919 (GRCm39) |
C3606S |
probably damaging |
Het |
| Lrrc42 |
A |
G |
4: 107,104,917 (GRCm39) |
I16T |
probably damaging |
Het |
| Mtus1 |
G |
T |
8: 41,455,398 (GRCm39) |
L87I |
possibly damaging |
Het |
| Myot |
T |
C |
18: 44,470,053 (GRCm39) |
F10S |
probably damaging |
Het |
| Nrg3 |
A |
T |
14: 38,098,413 (GRCm39) |
H480Q |
probably damaging |
Het |
| Or52b2 |
G |
A |
7: 104,986,129 (GRCm39) |
R265C |
probably benign |
Het |
| Or5ac23 |
A |
T |
16: 59,149,783 (GRCm39) |
F30I |
probably damaging |
Het |
| Prl2c5 |
A |
T |
13: 13,366,390 (GRCm39) |
D220V |
probably damaging |
Het |
| Rbm17 |
G |
A |
2: 11,592,590 (GRCm39) |
S295L |
probably benign |
Het |
| Serpina6 |
A |
G |
12: 103,613,172 (GRCm39) |
I376T |
probably damaging |
Het |
| Sh2d2a |
A |
T |
3: 87,756,730 (GRCm39) |
T192S |
probably benign |
Het |
| Slc27a1 |
T |
C |
8: 72,037,106 (GRCm39) |
Y417H |
possibly damaging |
Het |
| Slc6a1 |
T |
G |
6: 114,281,813 (GRCm39) |
I32S |
possibly damaging |
Het |
| Sntb1 |
T |
C |
15: 55,769,540 (GRCm39) |
T150A |
probably damaging |
Het |
| Tanc1 |
T |
A |
2: 59,665,791 (GRCm39) |
C1183* |
probably null |
Het |
| Ubac1 |
A |
T |
2: 25,911,440 (GRCm39) |
V36E |
possibly damaging |
Het |
| Zfc3h1 |
T |
C |
10: 115,242,630 (GRCm39) |
|
probably benign |
Het |
| Zfp644 |
C |
T |
5: 106,784,771 (GRCm39) |
C592Y |
probably damaging |
Het |
|
| Other mutations in Tmprss7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00157:Tmprss7
|
APN |
16 |
45,483,731 (GRCm39) |
missense |
probably benign |
|
|
IGL00985:Tmprss7
|
APN |
16 |
45,482,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01115:Tmprss7
|
APN |
16 |
45,481,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01296:Tmprss7
|
APN |
16 |
45,504,937 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01298:Tmprss7
|
APN |
16 |
45,484,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01459:Tmprss7
|
APN |
16 |
45,483,706 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01785:Tmprss7
|
APN |
16 |
45,500,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02313:Tmprss7
|
APN |
16 |
45,501,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02893:Tmprss7
|
APN |
16 |
45,489,891 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02940:Tmprss7
|
APN |
16 |
45,476,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03291:Tmprss7
|
APN |
16 |
45,501,111 (GRCm39) |
missense |
probably benign |
|
|
amalgum
|
UTSW |
16 |
45,503,873 (GRCm39) |
missense |
probably benign |
0.15 |
|
fusion
|
UTSW |
16 |
45,511,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
steely
|
UTSW |
16 |
45,487,969 (GRCm39) |
nonsense |
probably null |
|
|
P0019:Tmprss7
|
UTSW |
16 |
45,501,096 (GRCm39) |
missense |
probably benign |
|
|
R0051:Tmprss7
|
UTSW |
16 |
45,494,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0051:Tmprss7
|
UTSW |
16 |
45,494,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0092:Tmprss7
|
UTSW |
16 |
45,487,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0219:Tmprss7
|
UTSW |
16 |
45,476,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0332:Tmprss7
|
UTSW |
16 |
45,501,001 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0607:Tmprss7
|
UTSW |
16 |
45,489,914 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0669:Tmprss7
|
UTSW |
16 |
45,498,325 (GRCm39) |
nonsense |
probably null |
|
|
R0783:Tmprss7
|
UTSW |
16 |
45,487,969 (GRCm39) |
nonsense |
probably null |
|
|
R1447:Tmprss7
|
UTSW |
16 |
45,501,033 (GRCm39) |
missense |
probably benign |
|
|
R1538:Tmprss7
|
UTSW |
16 |
45,499,753 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1564:Tmprss7
|
UTSW |
16 |
45,482,516 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1912:Tmprss7
|
UTSW |
16 |
45,476,911 (GRCm39) |
nonsense |
probably null |
|
|
R1932:Tmprss7
|
UTSW |
16 |
45,504,956 (GRCm39) |
nonsense |
probably null |
|
|
R2257:Tmprss7
|
UTSW |
16 |
45,506,696 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R3840:Tmprss7
|
UTSW |
16 |
45,481,195 (GRCm39) |
nonsense |
probably null |
|
|
R4232:Tmprss7
|
UTSW |
16 |
45,476,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4332:Tmprss7
|
UTSW |
16 |
45,506,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4685:Tmprss7
|
UTSW |
16 |
45,499,711 (GRCm39) |
missense |
probably benign |
|
|
R4712:Tmprss7
|
UTSW |
16 |
45,511,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4822:Tmprss7
|
UTSW |
16 |
45,483,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5368:Tmprss7
|
UTSW |
16 |
45,481,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Tmprss7
|
UTSW |
16 |
45,489,891 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5468:Tmprss7
|
UTSW |
16 |
45,476,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5526:Tmprss7
|
UTSW |
16 |
45,481,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5719:Tmprss7
|
UTSW |
16 |
45,506,793 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6149:Tmprss7
|
UTSW |
16 |
45,494,268 (GRCm39) |
nonsense |
probably null |
|
|
R6235:Tmprss7
|
UTSW |
16 |
45,478,485 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6358:Tmprss7
|
UTSW |
16 |
45,489,936 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6645:Tmprss7
|
UTSW |
16 |
45,511,326 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7187:Tmprss7
|
UTSW |
16 |
45,498,317 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7222:Tmprss7
|
UTSW |
16 |
45,511,256 (GRCm39) |
missense |
probably benign |
|
|
R7634:Tmprss7
|
UTSW |
16 |
45,483,637 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7747:Tmprss7
|
UTSW |
16 |
45,503,873 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7776:Tmprss7
|
UTSW |
16 |
45,488,014 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7777:Tmprss7
|
UTSW |
16 |
45,480,963 (GRCm39) |
splice site |
probably null |
|
|
R8222:Tmprss7
|
UTSW |
16 |
45,478,461 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8983:Tmprss7
|
UTSW |
16 |
45,481,263 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9472:Tmprss7
|
UTSW |
16 |
45,501,052 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9485:Tmprss7
|
UTSW |
16 |
45,498,282 (GRCm39) |
nonsense |
probably null |
|
|
R9502:Tmprss7
|
UTSW |
16 |
45,484,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9516:Tmprss7
|
UTSW |
16 |
45,484,564 (GRCm39) |
missense |
probably benign |
0.00 |
|
T0975:Tmprss7
|
UTSW |
16 |
45,501,096 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Tmprss7
|
UTSW |
16 |
45,482,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAACAGTGTGTCTGTCTGGGAAAG -3'
(R):5'- GGTGTCTCCTGCATGAGTCACTTC -3'
Sequencing Primer
(F):5'- TCTGGGAAAGAAGGAAAAATCTACC -3'
(R):5'- GCTTGGGATCATCTCTAATCAAGG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation