Incidental Mutation 'R6358:Tmprss7'
| ID |
513365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss7
|
| Ensembl Gene |
ENSMUSG00000033177 |
| Gene Name |
transmembrane serine protease 7 |
| Synonyms |
B230219I23Rik, LOC385645, matriptase-3 |
| MMRRC Submission |
044508-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R6358 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
45476678-45514021 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 45489936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 429
(M429L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114562]
|
| AlphaFold |
Q8BIK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114562
AA Change: M429L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: M429L
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
T |
C |
8: 41,279,718 (GRCm39) |
V703A |
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,562,702 (GRCm39) |
Q5389L |
probably damaging |
Het |
| Aldh18a1 |
A |
T |
19: 40,566,122 (GRCm39) |
I42N |
possibly damaging |
Het |
| Ankrd28 |
A |
C |
14: 31,432,821 (GRCm39) |
C575W |
probably damaging |
Het |
| Car14 |
T |
A |
3: 95,805,487 (GRCm39) |
T329S |
possibly damaging |
Het |
| Cdhr2 |
T |
C |
13: 54,884,359 (GRCm39) |
F1298S |
probably damaging |
Het |
| Crhr2 |
A |
G |
6: 55,070,028 (GRCm39) |
I341T |
probably benign |
Het |
| D5Ertd579e |
T |
A |
5: 36,773,580 (GRCm39) |
|
probably null |
Het |
| Eif1ad3 |
A |
G |
12: 87,843,770 (GRCm39) |
E139G |
unknown |
Het |
| Emilin1 |
A |
G |
5: 31,075,562 (GRCm39) |
E601G |
probably damaging |
Het |
| Erbin |
T |
A |
13: 103,982,073 (GRCm39) |
Q456L |
probably damaging |
Het |
| Glp1r |
T |
C |
17: 31,151,618 (GRCm39) |
V405A |
probably benign |
Het |
| Gm10220 |
C |
G |
5: 26,325,303 (GRCm39) |
|
probably null |
Het |
| Gm527 |
A |
T |
12: 64,970,322 (GRCm39) |
H219L |
possibly damaging |
Het |
| Gorasp2 |
T |
A |
2: 70,503,104 (GRCm39) |
M1K |
probably null |
Het |
| H2-DMa |
T |
A |
17: 34,356,958 (GRCm39) |
L152H |
probably damaging |
Het |
| Hsd3b7 |
T |
A |
7: 127,400,709 (GRCm39) |
H54Q |
probably damaging |
Het |
| Hspa12b |
T |
C |
2: 130,978,986 (GRCm39) |
|
probably benign |
Het |
| Iars1 |
C |
A |
13: 49,880,619 (GRCm39) |
T1006K |
possibly damaging |
Het |
| Jmjd1c |
T |
C |
10: 67,061,718 (GRCm39) |
V1357A |
probably benign |
Het |
| Magi3 |
T |
C |
3: 103,958,268 (GRCm39) |
M606V |
probably damaging |
Het |
| Mia |
T |
C |
7: 26,880,403 (GRCm39) |
D24G |
probably benign |
Het |
| Mon2 |
A |
T |
10: 122,849,409 (GRCm39) |
L1297Q |
probably damaging |
Het |
| Musk |
T |
A |
4: 58,373,171 (GRCm39) |
S691T |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,203,294 (GRCm39) |
E1463D |
possibly damaging |
Het |
| Ndufs6 |
C |
T |
13: 73,468,438 (GRCm39) |
G87D |
probably damaging |
Het |
| Npnt |
C |
T |
3: 132,610,479 (GRCm39) |
V415I |
probably benign |
Het |
| Ntsr2 |
A |
G |
12: 16,706,769 (GRCm39) |
I266V |
probably benign |
Het |
| Or11j4 |
A |
T |
14: 50,630,845 (GRCm39) |
I211F |
possibly damaging |
Het |
| Or5aq7 |
T |
C |
2: 86,938,778 (GRCm39) |
|
probably benign |
Het |
| Pkmyt1 |
T |
A |
17: 23,952,630 (GRCm39) |
|
probably null |
Het |
| Polr1e |
T |
C |
4: 45,026,813 (GRCm39) |
L166P |
probably damaging |
Het |
| Ppib |
T |
G |
9: 65,968,756 (GRCm39) |
F48C |
probably damaging |
Het |
| Ppl |
C |
A |
16: 4,905,793 (GRCm39) |
E1501* |
probably null |
Het |
| Prpf8 |
T |
C |
11: 75,382,321 (GRCm39) |
V384A |
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,661,503 (GRCm39) |
S1212R |
probably damaging |
Het |
| Ralb |
C |
A |
1: 119,403,735 (GRCm39) |
D131Y |
probably damaging |
Het |
| Rfx4 |
T |
A |
10: 84,680,099 (GRCm39) |
M141K |
probably damaging |
Het |
| Rgl2 |
T |
A |
17: 34,156,105 (GRCm39) |
|
probably null |
Het |
| Rpl27 |
A |
G |
11: 101,334,782 (GRCm39) |
|
probably benign |
Het |
| Sdc1 |
A |
C |
12: 8,841,297 (GRCm39) |
T213P |
probably damaging |
Het |
| Setx |
T |
A |
2: 29,061,360 (GRCm39) |
N2256K |
possibly damaging |
Het |
| Shank2 |
A |
G |
7: 143,585,034 (GRCm39) |
M12V |
probably benign |
Het |
| Slc22a28 |
T |
A |
19: 8,049,253 (GRCm39) |
K332M |
probably damaging |
Het |
| Slf2 |
A |
T |
19: 44,923,864 (GRCm39) |
H226L |
probably benign |
Het |
| Tbc1d10b |
T |
C |
7: 126,802,584 (GRCm39) |
S362G |
probably benign |
Het |
| Tbxas1 |
G |
A |
6: 38,929,046 (GRCm39) |
|
probably benign |
Het |
| Tctn1 |
A |
G |
5: 122,399,575 (GRCm39) |
V83A |
probably damaging |
Het |
| Tgm4 |
A |
G |
9: 122,885,583 (GRCm39) |
E375G |
probably damaging |
Het |
| Tmeff2 |
T |
A |
1: 51,172,273 (GRCm39) |
Y247* |
probably null |
Het |
| Tmem167b |
C |
T |
3: 108,466,211 (GRCm39) |
R79H |
possibly damaging |
Het |
| Tnfsf18 |
T |
A |
1: 161,331,148 (GRCm39) |
D99E |
probably benign |
Het |
| Tnrc18 |
A |
T |
5: 142,713,736 (GRCm39) |
S2534T |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,897,968 (GRCm39) |
E872G |
probably damaging |
Het |
| Tomm40l |
C |
T |
1: 171,047,206 (GRCm39) |
V237I |
possibly damaging |
Het |
| Trbv2 |
A |
G |
6: 41,024,836 (GRCm39) |
Q84R |
probably benign |
Het |
| Tspan18 |
T |
C |
2: 93,040,219 (GRCm39) |
R179G |
probably benign |
Het |
| Tspan8 |
G |
T |
10: 115,669,132 (GRCm39) |
V56L |
probably benign |
Het |
| Zbtb22 |
T |
C |
17: 34,137,711 (GRCm39) |
S619P |
probably damaging |
Het |
| Zfp2 |
A |
T |
11: 50,791,428 (GRCm39) |
I205N |
probably damaging |
Het |
| Zfpm1 |
A |
G |
8: 123,063,850 (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 |
|
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'- GCCTTGCTTGATCACTAATGG -3'
(R):5'- AACAGGACAGTGCTTGTTTTG -3'
Sequencing Primer
(F):5'- GCTCATTAGGTTTTCTACGGAAC -3'
(R):5'- GCAGAATTGCGACAAAAGTCC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation