Incidental Mutation 'R4226:Tmprss6'
| ID |
320054 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss6
|
| Ensembl Gene |
ENSMUSG00000016942 |
| Gene Name |
transmembrane serine protease 6 |
| Synonyms |
matriptase-2, 1300008A22Rik |
| MMRRC Submission |
041046-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R4226 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
78323867-78352834 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 78330899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 43
(V43M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155414
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017086]
[ENSMUST00000229124]
[ENSMUST00000229516]
[ENSMUST00000230020]
[ENSMUST00000230159]
[ENSMUST00000230226]
|
| AlphaFold |
Q9DBI0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017086
AA Change: V445M
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000017086
Gene: ENSMUSG00000016942
AA Change: V445M
| 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 damaging
Transcript: ENSMUST00000229124
AA Change: V43M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229516
AA Change: V445M
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230020
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230159
AA Change: V445M
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230226
AA Change: V433M
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230473
|
| Meta Mutation Damage Score |
0.0925 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449I24Rik |
T |
A |
5: 146,441,690 (GRCm39) |
V279E |
possibly damaging |
Het |
| Ache |
T |
C |
5: 137,289,152 (GRCm39) |
V286A |
possibly damaging |
Het |
| Amotl1 |
T |
C |
9: 14,504,974 (GRCm39) |
N115S |
probably benign |
Het |
| Aoah |
A |
T |
13: 21,163,696 (GRCm39) |
Y333F |
possibly damaging |
Het |
| Ap4m1 |
A |
T |
5: 138,171,079 (GRCm39) |
R74* |
probably null |
Het |
| Arhgef5 |
C |
T |
6: 43,256,432 (GRCm39) |
A1180V |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,926,835 (GRCm39) |
|
probably null |
Het |
| Capn11 |
A |
G |
17: 45,953,392 (GRCm39) |
|
probably null |
Het |
| Ccdc146 |
T |
A |
5: 21,527,756 (GRCm39) |
I187L |
probably benign |
Het |
| Cfh |
A |
T |
1: 140,036,664 (GRCm39) |
C360S |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,050,490 (GRCm39) |
N2249D |
probably damaging |
Het |
| Cyb5r4 |
T |
G |
9: 86,939,282 (GRCm39) |
I355S |
probably damaging |
Het |
| Dnm1l |
A |
T |
16: 16,132,251 (GRCm39) |
H653Q |
possibly damaging |
Het |
| Frmd4a |
C |
T |
2: 4,337,889 (GRCm39) |
R32C |
probably benign |
Het |
| Gm16503 |
C |
T |
4: 147,625,725 (GRCm39) |
S73L |
unknown |
Het |
| Hnrnpll |
A |
T |
17: 80,357,234 (GRCm39) |
|
probably null |
Het |
| Igf1r |
T |
A |
7: 67,844,826 (GRCm39) |
Y866* |
probably null |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Mc1r |
A |
G |
8: 124,134,595 (GRCm39) |
N116S |
possibly damaging |
Het |
| Micu2 |
T |
C |
14: 58,169,742 (GRCm39) |
K203E |
possibly damaging |
Het |
| Mybpc1 |
C |
T |
10: 88,409,387 (GRCm39) |
W36* |
probably null |
Het |
| Nsd1 |
C |
T |
13: 55,408,214 (GRCm39) |
T1286I |
probably damaging |
Het |
| Or2a56 |
A |
G |
6: 42,932,689 (GRCm39) |
T86A |
probably benign |
Het |
| Or51l14 |
T |
C |
7: 103,100,784 (GRCm39) |
M80T |
probably benign |
Het |
| Pnpla3 |
C |
A |
15: 84,063,391 (GRCm39) |
N256K |
probably benign |
Het |
| Polh |
A |
G |
17: 46,483,520 (GRCm39) |
S582P |
probably benign |
Het |
| Rnaseh2a |
G |
A |
8: 85,686,702 (GRCm39) |
T149I |
possibly damaging |
Het |
| Ryr1 |
A |
C |
7: 28,761,576 (GRCm39) |
Y3190* |
probably null |
Het |
| Sec31b |
T |
A |
19: 44,520,149 (GRCm39) |
M212L |
probably benign |
Het |
| Smc4 |
A |
G |
3: 68,938,800 (GRCm39) |
E950G |
probably benign |
Het |
| Tlr1 |
A |
T |
5: 65,083,060 (GRCm39) |
S506T |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tmem236 |
G |
T |
2: 14,179,437 (GRCm39) |
E13* |
probably null |
Het |
| Vegfc |
A |
G |
8: 54,612,445 (GRCm39) |
Y156C |
probably damaging |
Het |
| Vmn1r39 |
T |
C |
6: 66,781,703 (GRCm39) |
H205R |
possibly damaging |
Het |
| Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,422,240 (GRCm39) |
N2793D |
unknown |
Het |
|
| Other mutations in Tmprss6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01066:Tmprss6
|
APN |
15 |
78,326,634 (GRCm39) |
missense |
probably null |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATACATGTGACTGCCTACC -3'
(R):5'- GCTGTGCATAGGAACCTAGG -3'
Sequencing Primer
(F):5'- ATAAAACTACGTGCCATGTGC -3'
(R):5'- GCATAGGAACCTAGGTTGTTTCTC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation