Incidental Mutation 'R4232:Tmprss7'
| ID |
320935 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss7
|
| Ensembl Gene |
ENSMUSG00000033177 |
| Gene Name |
transmembrane serine protease 7 |
| Synonyms |
matriptase-3, B230219I23Rik, LOC385645 |
| MMRRC Submission |
041051-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R4232 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
45656315-45693658 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 45656573 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 775
(D775E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036732]
[ENSMUST00000114562]
|
| AlphaFold |
Q8BIK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036732
|
| SMART Domains |
Protein: ENSMUSP00000037651
Gene: ENSMUSG00000033187
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114562
AA Change: D775E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: D775E
| 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
|
| Meta Mutation Damage Score |
0.5146 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
92% (58/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
C |
T |
X: 70,394,529 (GRCm38) |
A53T |
probably benign |
Het |
| Ajuba |
T |
C |
14: 54,569,526 (GRCm38) |
R490G |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 53,139,671 (GRCm38) |
N1289K |
probably damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,887,137 (GRCm38) |
V161A |
probably damaging |
Het |
| Atg14 |
T |
C |
14: 47,551,345 (GRCm38) |
K184E |
probably benign |
Het |
| Aven |
A |
G |
2: 112,627,768 (GRCm38) |
D167G |
probably damaging |
Het |
| Celsr2 |
A |
G |
3: 108,413,772 (GRCm38) |
F575L |
probably benign |
Het |
| Cflar |
A |
T |
1: 58,740,993 (GRCm38) |
Q249L |
possibly damaging |
Het |
| Col7a1 |
G |
A |
9: 108,972,813 (GRCm38) |
|
probably null |
Het |
| Dmxl2 |
T |
C |
9: 54,419,909 (GRCm38) |
D944G |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 31,304,916 (GRCm38) |
N717S |
probably benign |
Het |
| Dnaja3 |
T |
A |
16: 4,699,871 (GRCm38) |
N322K |
possibly damaging |
Het |
| Dnajb3 |
A |
G |
1: 88,205,252 (GRCm38) |
S143P |
possibly damaging |
Het |
| Dtx3 |
A |
G |
10: 127,193,189 (GRCm38) |
I60T |
possibly damaging |
Het |
| Dvl3 |
A |
G |
16: 20,524,233 (GRCm38) |
|
probably benign |
Het |
| Fam71b |
C |
A |
11: 46,407,405 (GRCm38) |
T512K |
possibly damaging |
Het |
| Fkbp7 |
A |
T |
2: 76,663,317 (GRCm38) |
D177E |
possibly damaging |
Het |
| Galnt7 |
T |
C |
8: 57,652,966 (GRCm38) |
I5V |
probably benign |
Het |
| Helz2 |
A |
T |
2: 181,229,902 (GRCm38) |
L2639Q |
probably damaging |
Het |
| Hnrnpr |
T |
C |
4: 136,339,189 (GRCm38) |
M394T |
probably benign |
Het |
| Ip6k2 |
G |
A |
9: 108,805,648 (GRCm38) |
R319Q |
probably benign |
Het |
| Kif14 |
T |
A |
1: 136,516,363 (GRCm38) |
C1364* |
probably null |
Het |
| Macf1 |
T |
C |
4: 123,432,392 (GRCm38) |
E5104G |
probably damaging |
Het |
| Mkl1 |
T |
A |
15: 81,023,595 (GRCm38) |
K29M |
probably damaging |
Het |
| Mrps30 |
T |
C |
13: 118,386,840 (GRCm38) |
D132G |
probably damaging |
Het |
| Mtbp |
CATGA |
CATGAATGA |
15: 55,620,677 (GRCm38) |
|
probably null |
Het |
| Nfkb1 |
A |
G |
3: 135,603,770 (GRCm38) |
V521A |
probably damaging |
Het |
| Olfr1535 |
T |
C |
13: 21,555,461 (GRCm38) |
D187G |
probably damaging |
Het |
| Olfr850 |
G |
T |
9: 19,477,726 (GRCm38) |
L175M |
probably damaging |
Het |
| P2rx6 |
T |
C |
16: 17,570,767 (GRCm38) |
L335P |
probably damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,695,948 (GRCm38) |
D483G |
possibly damaging |
Het |
| Pgpep1l |
T |
C |
7: 68,237,079 (GRCm38) |
T161A |
probably benign |
Het |
| Prss40 |
A |
G |
1: 34,560,792 (GRCm38) |
V38A |
probably benign |
Het |
| Ptk2 |
C |
A |
15: 73,309,849 (GRCm38) |
R104L |
possibly damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,640,644 (GRCm38) |
R2019Q |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,860,446 (GRCm38) |
T354I |
probably benign |
Het |
| Rtp4 |
A |
G |
16: 23,613,083 (GRCm38) |
N122D |
possibly damaging |
Het |
| Samd8 |
A |
G |
14: 21,780,145 (GRCm38) |
Y213C |
probably benign |
Het |
| Shcbp1 |
T |
A |
8: 4,736,372 (GRCm38) |
T577S |
probably benign |
Het |
| Tiprl |
A |
G |
1: 165,222,587 (GRCm38) |
V153A |
probably damaging |
Het |
| Tnr |
T |
C |
1: 159,886,215 (GRCm38) |
S738P |
possibly damaging |
Het |
| Tsc22d4 |
T |
C |
5: 137,751,370 (GRCm38) |
|
probably null |
Het |
| Ttc21a |
A |
T |
9: 119,942,618 (GRCm38) |
H161L |
probably benign |
Het |
| Ubqln3 |
T |
A |
7: 104,141,803 (GRCm38) |
E360V |
probably benign |
Het |
| Ugt1a10 |
C |
A |
1: 88,056,210 (GRCm38) |
D243E |
probably benign |
Het |
| Vmn2r19 |
G |
A |
6: 123,329,912 (GRCm38) |
V460I |
probably benign |
Het |
| Vmn2r58 |
T |
A |
7: 41,837,587 (GRCm38) |
Y628F |
possibly damaging |
Het |
| Wnk1 |
A |
T |
6: 119,949,261 (GRCm38) |
S1588T |
possibly damaging |
Het |
| Wscd2 |
A |
G |
5: 113,560,984 (GRCm38) |
D200G |
probably benign |
Het |
| Zfp831 |
G |
C |
2: 174,705,654 (GRCm38) |
W1543C |
possibly damaging |
Het |
|
| Other mutations in Tmprss7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00157:Tmprss7
|
APN |
16 |
45,663,368 (GRCm38) |
missense |
probably benign |
|
|
IGL00985:Tmprss7
|
APN |
16 |
45,662,322 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01115:Tmprss7
|
APN |
16 |
45,660,789 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01296:Tmprss7
|
APN |
16 |
45,684,574 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01298:Tmprss7
|
APN |
16 |
45,664,175 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01459:Tmprss7
|
APN |
16 |
45,663,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01785:Tmprss7
|
APN |
16 |
45,680,634 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02313:Tmprss7
|
APN |
16 |
45,681,593 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02893:Tmprss7
|
APN |
16 |
45,669,528 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
IGL02940:Tmprss7
|
APN |
16 |
45,656,455 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03291:Tmprss7
|
APN |
16 |
45,680,748 (GRCm38) |
missense |
probably benign |
|
|
amalgum
|
UTSW |
16 |
45,683,510 (GRCm38) |
missense |
probably benign |
0.15 |
|
fusion
|
UTSW |
16 |
45,690,760 (GRCm38) |
missense |
probably damaging |
1.00 |
|
steely
|
UTSW |
16 |
45,667,606 (GRCm38) |
nonsense |
probably null |
|
|
P0019:Tmprss7
|
UTSW |
16 |
45,680,733 (GRCm38) |
missense |
probably benign |
|
|
R0051:Tmprss7
|
UTSW |
16 |
45,673,939 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0051:Tmprss7
|
UTSW |
16 |
45,673,939 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0092:Tmprss7
|
UTSW |
16 |
45,667,596 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0178:Tmprss7
|
UTSW |
16 |
45,690,843 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0219:Tmprss7
|
UTSW |
16 |
45,656,457 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0332:Tmprss7
|
UTSW |
16 |
45,680,638 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0607:Tmprss7
|
UTSW |
16 |
45,669,551 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0669:Tmprss7
|
UTSW |
16 |
45,677,962 (GRCm38) |
nonsense |
probably null |
|
|
R0783:Tmprss7
|
UTSW |
16 |
45,667,606 (GRCm38) |
nonsense |
probably null |
|
|
R1447:Tmprss7
|
UTSW |
16 |
45,680,670 (GRCm38) |
missense |
probably benign |
|
|
R1538:Tmprss7
|
UTSW |
16 |
45,679,390 (GRCm38) |
missense |
probably benign |
0.44 |
|
R1564:Tmprss7
|
UTSW |
16 |
45,662,153 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1912:Tmprss7
|
UTSW |
16 |
45,656,548 (GRCm38) |
nonsense |
probably null |
|
|
R1932:Tmprss7
|
UTSW |
16 |
45,684,593 (GRCm38) |
nonsense |
probably null |
|
|
R2257:Tmprss7
|
UTSW |
16 |
45,686,333 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R3840:Tmprss7
|
UTSW |
16 |
45,660,832 (GRCm38) |
nonsense |
probably null |
|
|
R4332:Tmprss7
|
UTSW |
16 |
45,686,327 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4685:Tmprss7
|
UTSW |
16 |
45,679,348 (GRCm38) |
missense |
probably benign |
|
|
R4712:Tmprss7
|
UTSW |
16 |
45,690,760 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4822:Tmprss7
|
UTSW |
16 |
45,663,316 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5368:Tmprss7
|
UTSW |
16 |
45,660,889 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5386:Tmprss7
|
UTSW |
16 |
45,669,528 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R5468:Tmprss7
|
UTSW |
16 |
45,656,448 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5526:Tmprss7
|
UTSW |
16 |
45,660,904 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5719:Tmprss7
|
UTSW |
16 |
45,686,430 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6149:Tmprss7
|
UTSW |
16 |
45,673,905 (GRCm38) |
nonsense |
probably null |
|
|
R6235:Tmprss7
|
UTSW |
16 |
45,658,122 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6358:Tmprss7
|
UTSW |
16 |
45,669,573 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6645:Tmprss7
|
UTSW |
16 |
45,690,963 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7187:Tmprss7
|
UTSW |
16 |
45,677,954 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R7222:Tmprss7
|
UTSW |
16 |
45,690,893 (GRCm38) |
missense |
probably benign |
|
|
R7634:Tmprss7
|
UTSW |
16 |
45,663,274 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7747:Tmprss7
|
UTSW |
16 |
45,683,510 (GRCm38) |
missense |
probably benign |
0.15 |
|
R7776:Tmprss7
|
UTSW |
16 |
45,667,651 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7777:Tmprss7
|
UTSW |
16 |
45,660,600 (GRCm38) |
splice site |
probably null |
|
|
R8222:Tmprss7
|
UTSW |
16 |
45,658,098 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8983:Tmprss7
|
UTSW |
16 |
45,660,900 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9472:Tmprss7
|
UTSW |
16 |
45,680,689 (GRCm38) |
missense |
probably benign |
0.09 |
|
R9485:Tmprss7
|
UTSW |
16 |
45,677,919 (GRCm38) |
nonsense |
probably null |
|
|
R9502:Tmprss7
|
UTSW |
16 |
45,664,192 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9516:Tmprss7
|
UTSW |
16 |
45,664,201 (GRCm38) |
missense |
probably benign |
0.00 |
|
T0975:Tmprss7
|
UTSW |
16 |
45,680,733 (GRCm38) |
missense |
probably benign |
|
|
Z1176:Tmprss7
|
UTSW |
16 |
45,662,256 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTATGTGCTCAATCTGACACTTTC -3'
(R):5'- CTACTCCTTTCACAGATGCAATG -3'
Sequencing Primer
(F):5'- GTCACAGTTAACAATCCATCTGTTAC -3'
(R):5'- CTCCTTTCACAGATGCAATGAATAC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation