Incidental Mutation 'T0975:Tmprss7'
| ID |
67736 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss7
|
| Ensembl Gene |
ENSMUSG00000033177 |
| Gene Name |
transmembrane serine protease 7 |
| Synonyms |
B230219I23Rik, LOC385645, matriptase-3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
T0975 (G3)
of strain
714
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
45476678-45514021 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45501096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 235
(R235Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114562]
|
| AlphaFold |
Q8BIK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114562
AA Change: R235Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: R235Q
| 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: ENSMUST00000170951
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178150
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178323
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 93.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
TAA |
TAAA |
11: 3,887,945 (GRCm39) |
|
probably null |
Het |
| 4930556J24Rik |
C |
T |
11: 3,926,324 (GRCm39) |
A27T |
unknown |
Het |
| Ago3 |
C |
T |
4: 126,298,056 (GRCm39) |
V155I |
probably benign |
Het |
| Ago3 |
G |
A |
4: 126,298,103 (GRCm39) |
A139V |
probably benign |
Het |
| Ago3 |
C |
T |
4: 126,298,098 (GRCm39) |
A141T |
probably benign |
Het |
| Ahdc1 |
ACCTCCT |
ACCTCCTCCT |
4: 132,790,065 (GRCm39) |
|
probably benign |
Het |
| Azin2 |
A |
G |
4: 128,839,927 (GRCm39) |
Y222H |
probably benign |
Het |
| Bpifb5 |
C |
A |
2: 154,071,384 (GRCm39) |
|
probably null |
Het |
| Castor1 |
G |
C |
11: 4,170,445 (GRCm39) |
G147A |
probably benign |
Het |
| Ccdc157 |
C |
T |
11: 4,096,246 (GRCm39) |
A455T |
probably damaging |
Het |
| Ccng1 |
A |
C |
11: 40,644,871 (GRCm39) |
S9A |
probably benign |
Het |
| Cfh |
T |
C |
1: 140,082,336 (GRCm39) |
T164A |
probably benign |
Het |
| Cherp |
TTGGACCTGGACCTGGACCTGGACCTGGA |
TTGGACCTGGACCTGGACCTGGA |
8: 73,215,878 (GRCm39) |
|
probably benign |
Het |
| Chrng |
T |
C |
1: 87,138,348 (GRCm39) |
S380P |
probably benign |
Het |
| Clspn |
ACGGCGGCGGCGGCG |
ACGGCGGCGGCGGCGGCGGCG |
4: 126,460,230 (GRCm39) |
|
probably benign |
Het |
| Ctrc |
T |
TA |
4: 141,572,507 (GRCm39) |
|
probably null |
Het |
| Cxxc1 |
C |
T |
18: 74,353,992 (GRCm39) |
R593C |
probably damaging |
Het |
| Dlgap1 |
T |
C |
17: 70,823,950 (GRCm39) |
S312P |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,840,130 (GRCm39) |
S1255G |
probably benign |
Het |
| Dpep1 |
A |
T |
8: 123,927,727 (GRCm39) |
S388C |
probably damaging |
Het |
| Emid1 |
T |
C |
11: 5,094,386 (GRCm39) |
T42A |
probably damaging |
Het |
| Emid1 |
A |
C |
11: 5,078,884 (GRCm39) |
L353V |
probably benign |
Het |
| Epn3 |
A |
G |
11: 94,382,733 (GRCm39) |
|
probably null |
Het |
| Fam124b |
T |
C |
1: 80,190,843 (GRCm39) |
E180G |
probably benign |
Het |
| Fam135b |
T |
G |
15: 71,335,734 (GRCm39) |
T487P |
probably damaging |
Het |
| Gja4 |
G |
C |
4: 127,206,024 (GRCm39) |
H246Q |
probably benign |
Het |
| Gm9972 |
GA |
GAA |
11: 42,927,597 (GRCm39) |
|
probably null |
Het |
| Hmmr |
G |
C |
11: 40,614,243 (GRCm39) |
N148K |
probably damaging |
Het |
| Homez |
C |
T |
14: 55,094,796 (GRCm39) |
R304K |
possibly damaging |
Het |
| Ifngr1 |
G |
A |
10: 19,485,221 (GRCm39) |
V407M |
probably damaging |
Het |
| Inpp5j |
G |
T |
11: 3,452,527 (GRCm39) |
T241N |
possibly damaging |
Het |
| Kif12 |
GGGGC |
GGGGCCTCCACCCGGCGGGC |
4: 63,089,660 (GRCm39) |
|
probably benign |
Het |
| Kremen1 |
C |
T |
11: 5,145,105 (GRCm39) |
A424T |
probably benign |
Het |
| Mat2b |
G |
A |
11: 40,570,918 (GRCm39) |
T302I |
probably benign |
Het |
| Mtmr3 |
C |
T |
11: 4,438,441 (GRCm39) |
R671K |
probably benign |
Het |
| Nacad |
A |
G |
11: 6,551,632 (GRCm39) |
C520R |
probably benign |
Het |
| Nacad |
GCAGGGTCAGGGTC |
GCAGGGTCAGGGTCAGGGTC |
11: 6,549,750 (GRCm39) |
|
probably benign |
Het |
| Nacad |
T |
C |
11: 6,551,622 (GRCm39) |
N523S |
probably benign |
Het |
| Nefh |
G |
A |
11: 4,890,151 (GRCm39) |
P823S |
probably benign |
Het |
| Nfrkb |
G |
C |
9: 31,308,379 (GRCm39) |
A230P |
probably benign |
Het |
| Nlrp4a |
A |
G |
7: 26,149,062 (GRCm39) |
E223G |
probably damaging |
Het |
| Notch3 |
T |
A |
17: 32,365,391 (GRCm39) |
Y1107F |
probably damaging |
Het |
| Or10ak9 |
G |
T |
4: 118,726,500 (GRCm39) |
R174M |
probably benign |
Het |
| Or13g1 |
A |
T |
7: 85,955,492 (GRCm39) |
Y276* |
probably null |
Het |
| Or6c35 |
A |
G |
10: 129,169,314 (GRCm39) |
D188G |
probably benign |
Het |
| Osm |
A |
G |
11: 4,189,588 (GRCm39) |
D124G |
probably benign |
Het |
| Plekhm2 |
TTCCTCCTCCT |
TTCCTCCT |
4: 141,359,292 (GRCm39) |
|
probably benign |
Het |
| Pomgnt1 |
C |
T |
4: 115,994,624 (GRCm39) |
|
probably benign |
Het |
| Spen |
A |
G |
4: 141,201,664 (GRCm39) |
V2321A |
probably benign |
Het |
| Sytl1 |
TCTGC |
TC |
4: 132,984,305 (GRCm39) |
|
probably benign |
Het |
| Tcn2 |
G |
C |
11: 3,873,487 (GRCm39) |
F286L |
possibly damaging |
Het |
| Tg |
T |
C |
15: 66,560,712 (GRCm39) |
S10P |
probably benign |
Het |
| Tns3 |
G |
A |
11: 8,499,100 (GRCm39) |
|
probably benign |
Het |
| Tns3 |
G |
T |
11: 8,401,146 (GRCm39) |
L1051M |
probably benign |
Het |
| Tns3 |
T |
G |
11: 8,429,518 (GRCm39) |
E806A |
probably benign |
Het |
| Toe1 |
T |
C |
4: 116,663,290 (GRCm39) |
I62M |
probably benign |
Het |
| Txnrd2 |
A |
G |
16: 18,294,315 (GRCm39) |
H436R |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,179,092 (GRCm39) |
P2001S |
probably damaging |
Het |
| Vmn2r23 |
T |
A |
6: 123,690,120 (GRCm39) |
M332K |
probably benign |
Het |
| Zbtb8a |
GG |
GGATG |
4: 129,253,812 (GRCm39) |
|
probably benign |
Het |
| Zbtb8a |
T |
C |
4: 129,254,005 (GRCm39) |
H163R |
probably benign |
Het |
| Zfyve21 |
A |
G |
12: 111,794,067 (GRCm39) |
D206G |
probably damaging |
Het |
| Zkscan4 |
AGAGGAG |
AGAG |
13: 21,663,370 (GRCm39) |
|
probably benign |
Het |
| Zmym1 |
A |
C |
4: 126,943,466 (GRCm39) |
H307Q |
probably benign |
Het |
| Zmym1 |
C |
T |
4: 126,941,740 (GRCm39) |
D785N |
probably benign |
Het |
| Zmym1 |
C |
T |
4: 126,942,043 (GRCm39) |
V684I |
probably benign |
Het |
| Zpld2 |
GTG |
GTGCTG |
4: 133,929,940 (GRCm39) |
|
probably benign |
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 |
|
R0178:Tmprss7
|
UTSW |
16 |
45,511,206 (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 |
|
Z1176:Tmprss7
|
UTSW |
16 |
45,482,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACTAGAGAGCCTTCAGCTTGCC -3'
(R):5'- CTGAACCGAATCCCGATATGCAGAC -3'
Sequencing Primer
(F):5'- GGAGTCATAAACAGTCAGGGAGTC -3'
(R):5'- TAGGTTCTGTCACCAAACGAG -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation