Incidental Mutation 'R6645:Tmprss7'
| ID |
526095 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss7
|
| Ensembl Gene |
ENSMUSG00000033177 |
| Gene Name |
transmembrane serine protease 7 |
| Synonyms |
B230219I23Rik, LOC385645, matriptase-3 |
| MMRRC Submission |
044766-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R6645 (G1)
|
| Quality Score |
105.008 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
45476678-45514021 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45511326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 17
(I17M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114562]
|
| AlphaFold |
Q8BIK6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114562
AA Change: I17M
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: I17M
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anp32e |
T |
A |
3: 95,844,414 (GRCm39) |
F95I |
probably damaging |
Het |
| Arap1 |
A |
G |
7: 101,057,318 (GRCm39) |
K628R |
possibly damaging |
Het |
| Arid4b |
A |
T |
13: 14,294,737 (GRCm39) |
E6D |
probably damaging |
Het |
| Atxn10 |
G |
T |
15: 85,260,904 (GRCm39) |
|
probably null |
Het |
| Ccdc170 |
A |
G |
10: 4,510,974 (GRCm39) |
I678V |
possibly damaging |
Het |
| Ccdc18 |
T |
A |
5: 108,286,796 (GRCm39) |
V110D |
probably benign |
Het |
| Cep85l |
C |
T |
10: 53,177,768 (GRCm39) |
E322K |
probably benign |
Het |
| Cilp |
A |
T |
9: 65,186,587 (GRCm39) |
Y894F |
possibly damaging |
Het |
| Ddx4 |
A |
G |
13: 112,777,708 (GRCm39) |
S62P |
possibly damaging |
Het |
| Dph7 |
T |
C |
2: 24,855,663 (GRCm39) |
V154A |
probably benign |
Het |
| Ephb6 |
T |
C |
6: 41,594,206 (GRCm39) |
S579P |
probably benign |
Het |
| Fam53a |
G |
T |
5: 33,758,128 (GRCm39) |
Q332K |
probably benign |
Het |
| Fancm |
A |
G |
12: 65,152,874 (GRCm39) |
D1110G |
probably damaging |
Het |
| Fh1 |
A |
T |
1: 175,442,442 (GRCm39) |
V136E |
possibly damaging |
Het |
| Greb1 |
G |
T |
12: 16,748,580 (GRCm39) |
H1132Q |
probably benign |
Het |
| Jph1 |
A |
G |
1: 17,161,985 (GRCm39) |
S226P |
probably damaging |
Het |
| Kbtbd8 |
C |
T |
6: 95,103,730 (GRCm39) |
R460* |
probably null |
Het |
| Lama5 |
T |
A |
2: 179,821,463 (GRCm39) |
N3059Y |
probably damaging |
Het |
| Lipc |
G |
A |
9: 70,711,030 (GRCm39) |
T289I |
probably damaging |
Het |
| Lrrc2 |
T |
C |
9: 110,799,175 (GRCm39) |
W241R |
probably damaging |
Het |
| Mfn2 |
T |
A |
4: 147,979,069 (GRCm39) |
I88F |
probably damaging |
Het |
| Mms19 |
G |
C |
19: 41,943,630 (GRCm39) |
N366K |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,368,118 (GRCm39) |
T293A |
probably benign |
Het |
| Ndfip2 |
T |
A |
14: 105,529,707 (GRCm39) |
Y179N |
probably damaging |
Het |
| Notch4 |
A |
G |
17: 34,806,790 (GRCm39) |
D1909G |
probably benign |
Het |
| Obscn |
C |
T |
11: 58,976,088 (GRCm39) |
S2013N |
probably damaging |
Het |
| Oca2 |
G |
T |
7: 55,964,522 (GRCm39) |
A357S |
probably benign |
Het |
| Or8b43 |
T |
C |
9: 38,360,219 (GRCm39) |
L17S |
probably damaging |
Het |
| Or8g35 |
T |
A |
9: 39,381,562 (GRCm39) |
L153F |
probably benign |
Het |
| Pde7b |
C |
A |
10: 20,486,312 (GRCm39) |
|
probably null |
Het |
| Ppef2 |
T |
C |
5: 92,378,320 (GRCm39) |
N625S |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,204,856 (GRCm39) |
L192Q |
probably damaging |
Het |
| Satb2 |
T |
C |
1: 56,836,166 (GRCm39) |
I542V |
possibly damaging |
Het |
| Sgpp2 |
C |
T |
1: 78,336,799 (GRCm39) |
T59M |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,749,235 (GRCm39) |
T782A |
possibly damaging |
Het |
| Slc13a4 |
G |
T |
6: 35,245,774 (GRCm39) |
Q624K |
probably benign |
Het |
| Slc9a3 |
T |
A |
13: 74,312,291 (GRCm39) |
H629Q |
probably damaging |
Het |
| Slitrk3 |
G |
T |
3: 72,957,194 (GRCm39) |
A526E |
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,722,198 (GRCm39) |
D994V |
probably benign |
Het |
| Sptssa |
T |
C |
12: 54,693,275 (GRCm39) |
Y53C |
probably damaging |
Het |
| Srsf10 |
T |
C |
4: 135,590,874 (GRCm39) |
S159P |
possibly damaging |
Het |
| Tbce |
T |
C |
13: 14,179,814 (GRCm39) |
T341A |
probably benign |
Het |
| Tdrd6 |
A |
G |
17: 43,935,423 (GRCm39) |
L1875P |
probably benign |
Het |
| Tkt |
G |
A |
14: 30,292,168 (GRCm39) |
G425R |
probably damaging |
Het |
| Ttc21b |
T |
C |
2: 66,066,721 (GRCm39) |
S311G |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,029,750 (GRCm39) |
Y492H |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,255,528 (GRCm39) |
I1535T |
probably damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,576,247 (GRCm39) |
N373Y |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,464,297 (GRCm39) |
V179E |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,910,451 (GRCm39) |
E3405G |
probably benign |
Het |
| Wac |
A |
T |
18: 7,973,523 (GRCm39) |
Q212H |
probably damaging |
Het |
| Washc4 |
C |
T |
10: 83,408,059 (GRCm39) |
R555* |
probably null |
Het |
| Zmat4 |
G |
A |
8: 24,287,417 (GRCm39) |
|
probably null |
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 |
|
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'- TACTGATGTAGAGCCATAGAAGTG -3'
(R):5'- GCCCTAAGATTCAGGTTTTCTG -3'
Sequencing Primer
(F):5'- CCATAGAAGTGTCCAGGCTGTGAC -3'
(R):5'- TGAGCTGCATACTGTACCTAAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation