Incidental Mutation 'IGL01066:Tmprss6'
| ID |
52761 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmprss6
|
| Ensembl Gene |
ENSMUSG00000016942 |
| Gene Name |
transmembrane serine protease 6 |
| Synonyms |
matriptase-2, 1300008A22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
IGL01066
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
78323867-78352834 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78326634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1
(D1G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155435
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017086]
[ENSMUST00000089414]
[ENSMUST00000159771]
[ENSMUST00000162321]
[ENSMUST00000162517]
[ENSMUST00000230226]
[ENSMUST00000230020]
[ENSMUST00000230159]
[ENSMUST00000166142]
[ENSMUST00000229124]
[ENSMUST00000229516]
[ENSMUST00000229290]
[ENSMUST00000229622]
|
| AlphaFold |
Q9DBI0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017086
AA Change: D663G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000017086
Gene: ENSMUSG00000016942
AA Change: D663G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
Pfam:SEA
|
88 |
191 |
3.2e-13 |
PFAM |
|
CUB
|
341 |
452 |
3.82e-2 |
SMART |
|
LDLa
|
457 |
489 |
1.33e-2 |
SMART |
|
LDLa
|
490 |
527 |
2.31e-9 |
SMART |
|
LDLa
|
530 |
568 |
1.07e-4 |
SMART |
|
Tryp_SPc
|
576 |
806 |
3.75e-97 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089414
|
| SMART Domains |
Protein: ENSMUSP00000086835
Gene: ENSMUSG00000033287
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
30 |
N/A |
INTRINSIC |
|
BTB
|
31 |
132 |
1.76e-16 |
SMART |
|
coiled coil region
|
208 |
244 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159771
|
| SMART Domains |
Protein: ENSMUSP00000125574
Gene: ENSMUSG00000033287
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
23 |
N/A |
INTRINSIC |
|
BTB
|
24 |
125 |
1.76e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160916
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162321
|
| SMART Domains |
Protein: ENSMUSP00000125680
Gene: ENSMUSG00000033287
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
3 |
86 |
9.93e-2 |
SMART |
|
low complexity region
|
168 |
195 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162517
|
| SMART Domains |
Protein: ENSMUSP00000124290
Gene: ENSMUSG00000033287
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
30 |
N/A |
INTRINSIC |
|
BTB
|
31 |
132 |
1.76e-16 |
SMART |
|
low complexity region
|
227 |
235 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162605
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230226
AA Change: D651G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000230020
AA Change: D1G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162808
|
| SMART Domains |
Protein: ENSMUSP00000125421
Gene: ENSMUSG00000033287
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d3kvt__
|
2 |
36 |
3e-8 |
SMART |
|
Blast:BTB
|
2 |
98 |
6e-30 |
BLAST |
|
PDB:3DRY|E
|
2 |
127 |
4e-69 |
PDB |
|
low complexity region
|
130 |
157 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
187 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230159
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166142
|
| SMART Domains |
Protein: ENSMUSP00000133210
Gene: ENSMUSG00000033287
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
30 |
N/A |
INTRINSIC |
|
BTB
|
31 |
132 |
1.76e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230473
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229124
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229516
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229290
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229622
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygosity for an inactivating mutation of this gene results in hair loss over the entire body except the face, microcytic anemia and female infertility, all reversible by dietary iron supplementation. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(11) : Targeted(6) Gene trapped(2) Chemically induced(3)
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| 2300003K06Rik |
T |
A |
11: 99,728,454 (GRCm39) |
R130* |
probably null |
Het |
| Abca12 |
T |
A |
1: 71,392,889 (GRCm39) |
R117W |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,261,800 (GRCm39) |
S497P |
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,473,874 (GRCm39) |
S710T |
probably benign |
Het |
| Anapc4 |
T |
A |
5: 53,014,551 (GRCm39) |
N471K |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,491,790 (GRCm39) |
M879K |
probably null |
Het |
| Apoe |
A |
G |
7: 19,430,525 (GRCm39) |
L239P |
probably damaging |
Het |
| Ash1l |
T |
C |
3: 88,891,942 (GRCm39) |
Y1274H |
probably damaging |
Het |
| B3glct |
C |
T |
5: 149,632,890 (GRCm39) |
T80I |
possibly damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,524,540 (GRCm39) |
T271A |
probably benign |
Het |
| Chd8 |
T |
A |
14: 52,455,223 (GRCm39) |
N1088I |
probably damaging |
Het |
| Csnk1g2 |
T |
C |
10: 80,470,481 (GRCm39) |
|
probably benign |
Het |
| Daxx |
T |
A |
17: 34,132,867 (GRCm39) |
V627D |
probably benign |
Het |
| Dnai7 |
C |
T |
6: 145,121,948 (GRCm39) |
G624S |
probably damaging |
Het |
| Dpy19l3 |
A |
G |
7: 35,392,192 (GRCm39) |
|
probably benign |
Het |
| Enc1 |
A |
G |
13: 97,381,822 (GRCm39) |
I111V |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,816,065 (GRCm39) |
|
probably benign |
Het |
| Fig4 |
T |
C |
10: 41,161,413 (GRCm39) |
|
probably benign |
Het |
| Fkbp7 |
A |
T |
2: 76,503,252 (GRCm39) |
L36* |
probably null |
Het |
| Fxn |
A |
T |
19: 24,244,662 (GRCm39) |
|
probably benign |
Het |
| Gm10152 |
C |
T |
7: 144,316,993 (GRCm39) |
P16L |
unknown |
Het |
| Hivep2 |
T |
C |
10: 14,024,768 (GRCm39) |
V2194A |
possibly damaging |
Het |
| Hook3 |
T |
G |
8: 26,538,326 (GRCm39) |
E525A |
probably damaging |
Het |
| Icam1 |
A |
G |
9: 20,927,401 (GRCm39) |
|
probably null |
Het |
| Ifngr1 |
C |
T |
10: 19,484,946 (GRCm39) |
T315I |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,235,203 (GRCm39) |
|
probably null |
Het |
| Irag2 |
T |
C |
6: 145,106,681 (GRCm39) |
S222P |
probably damaging |
Het |
| Krt87 |
A |
G |
15: 101,336,266 (GRCm39) |
|
probably null |
Het |
| Lama1 |
T |
A |
17: 68,050,321 (GRCm39) |
C311S |
probably damaging |
Het |
| Lig3 |
T |
A |
11: 82,688,141 (GRCm39) |
M714K |
possibly damaging |
Het |
| Lypd5 |
C |
T |
7: 24,052,910 (GRCm39) |
T189I |
probably benign |
Het |
| Mapk8ip3 |
C |
T |
17: 25,120,692 (GRCm39) |
G807D |
probably benign |
Het |
| Met |
T |
C |
6: 17,535,104 (GRCm39) |
|
probably null |
Het |
| Nlrp4g |
C |
A |
9: 124,349,526 (GRCm38) |
|
noncoding transcript |
Het |
| Nlrp6 |
T |
A |
7: 140,501,709 (GRCm39) |
V62D |
possibly damaging |
Het |
| Nme7 |
A |
G |
1: 164,172,999 (GRCm39) |
|
probably null |
Het |
| Or2y1f |
T |
C |
11: 49,184,457 (GRCm39) |
I103T |
possibly damaging |
Het |
| Or5m9 |
A |
G |
2: 85,877,602 (GRCm39) |
R259G |
probably damaging |
Het |
| Or5p79 |
T |
C |
7: 108,221,064 (GRCm39) |
F15S |
probably damaging |
Het |
| Pcnx1 |
G |
A |
12: 82,038,795 (GRCm39) |
R2020Q |
possibly damaging |
Het |
| Pdzd2 |
T |
A |
15: 12,402,718 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,166,637 (GRCm39) |
|
probably benign |
Het |
| Pkdrej |
T |
G |
15: 85,700,360 (GRCm39) |
I1859L |
probably benign |
Het |
| Plcg1 |
A |
T |
2: 160,596,318 (GRCm39) |
H638L |
probably damaging |
Het |
| Polr1b |
C |
T |
2: 128,961,072 (GRCm39) |
S677L |
probably damaging |
Het |
| Ppef2 |
A |
G |
5: 92,382,096 (GRCm39) |
L533P |
probably damaging |
Het |
| Sh3rf1 |
T |
A |
8: 61,782,370 (GRCm39) |
W171R |
probably damaging |
Het |
| Son |
T |
C |
16: 91,457,024 (GRCm39) |
|
probably benign |
Het |
| Sycp1 |
A |
G |
3: 102,827,950 (GRCm39) |
S266P |
probably damaging |
Het |
| Tedc1 |
A |
G |
12: 113,126,770 (GRCm39) |
E344G |
probably damaging |
Het |
| Tkfc |
T |
C |
19: 10,571,892 (GRCm39) |
I381M |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,582,770 (GRCm39) |
T22708A |
probably damaging |
Het |
| Ubtf |
T |
C |
11: 102,199,710 (GRCm39) |
|
probably benign |
Het |
| Vps35l |
T |
A |
7: 118,372,234 (GRCm39) |
|
probably null |
Het |
| Vwc2l |
T |
C |
1: 70,768,070 (GRCm39) |
F45L |
probably damaging |
Het |
| Xpo7 |
T |
C |
14: 70,939,195 (GRCm39) |
T154A |
probably benign |
Het |
| Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
Het |
|
| Other mutations in Tmprss6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02474:Tmprss6
|
APN |
15 |
78,326,536 (GRCm39) |
missense |
probably damaging |
0.99 |
|
cubone
|
UTSW |
15 |
78,330,857 (GRCm39) |
splice site |
probably null |
|
|
dilutional
|
UTSW |
15 |
78,328,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Ekans
|
UTSW |
15 |
78,343,627 (GRCm39) |
splice site |
probably null |
|
|
mask
|
UTSW |
15 |
78,464,455 (GRCm38) |
intron |
probably benign |
|
|
masquerade
|
UTSW |
15 |
78,352,200 (GRCm39) |
intron |
probably benign |
|
|
zorro
|
UTSW |
15 |
78,464,552 (GRCm38) |
intron |
probably benign |
|
|
BB003:Tmprss6
|
UTSW |
15 |
78,337,050 (GRCm39) |
missense |
probably benign |
0.28 |
|
BB013:Tmprss6
|
UTSW |
15 |
78,337,050 (GRCm39) |
missense |
probably benign |
0.28 |
|
PIT1430001:Tmprss6
|
UTSW |
15 |
78,324,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0285:Tmprss6
|
UTSW |
15 |
78,337,068 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1857:Tmprss6
|
UTSW |
15 |
78,336,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2432:Tmprss6
|
UTSW |
15 |
78,349,304 (GRCm39) |
splice site |
probably benign |
|
|
R4192:Tmprss6
|
UTSW |
15 |
78,330,857 (GRCm39) |
splice site |
probably null |
|
|
R4226:Tmprss6
|
UTSW |
15 |
78,330,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4227:Tmprss6
|
UTSW |
15 |
78,330,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4334:Tmprss6
|
UTSW |
15 |
78,343,627 (GRCm39) |
splice site |
probably null |
|
|
R4344:Tmprss6
|
UTSW |
15 |
78,343,627 (GRCm39) |
splice site |
probably null |
|
|
R4446:Tmprss6
|
UTSW |
15 |
78,337,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4508:Tmprss6
|
UTSW |
15 |
78,343,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4643:Tmprss6
|
UTSW |
15 |
78,329,556 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4743:Tmprss6
|
UTSW |
15 |
78,327,910 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4836:Tmprss6
|
UTSW |
15 |
78,329,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4859:Tmprss6
|
UTSW |
15 |
78,330,877 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4869:Tmprss6
|
UTSW |
15 |
78,327,880 (GRCm39) |
splice site |
probably null |
|
|
R5197:Tmprss6
|
UTSW |
15 |
78,338,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5212:Tmprss6
|
UTSW |
15 |
78,330,460 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5225:Tmprss6
|
UTSW |
15 |
78,336,707 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5569:Tmprss6
|
UTSW |
15 |
78,324,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5572:Tmprss6
|
UTSW |
15 |
78,326,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5669:Tmprss6
|
UTSW |
15 |
78,339,156 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5947:Tmprss6
|
UTSW |
15 |
78,336,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6800:Tmprss6
|
UTSW |
15 |
78,324,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6941:Tmprss6
|
UTSW |
15 |
78,330,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6965:Tmprss6
|
UTSW |
15 |
78,328,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7334:Tmprss6
|
UTSW |
15 |
78,328,017 (GRCm39) |
missense |
unknown |
|
|
R7338:Tmprss6
|
UTSW |
15 |
78,344,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7622:Tmprss6
|
UTSW |
15 |
78,330,926 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7926:Tmprss6
|
UTSW |
15 |
78,337,050 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7992:Tmprss6
|
UTSW |
15 |
78,326,664 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8177:Tmprss6
|
UTSW |
15 |
78,349,327 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8792:Tmprss6
|
UTSW |
15 |
78,328,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8881:Tmprss6
|
UTSW |
15 |
78,327,987 (GRCm39) |
makesense |
probably null |
|
|
R9084:Tmprss6
|
UTSW |
15 |
78,338,417 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9384:Tmprss6
|
UTSW |
15 |
78,328,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0025:Tmprss6
|
UTSW |
15 |
78,339,295 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Posted On |
2013-06-21 |
Incidental Mutation