Incidental Mutation 'IGL00574:Tmem147'
| ID |
6290 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem147
|
| Ensembl Gene |
ENSMUSG00000006315 |
| Gene Name |
transmembrane protein 147 |
| Synonyms |
2010004E11Rik, 5033425B17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.921)
|
| Stock # |
IGL00574
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
30427126-30428959 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 30427858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 66
(R66*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005692]
[ENSMUST00000006478]
[ENSMUST00000074758]
[ENSMUST00000170371]
[ENSMUST00000182067]
[ENSMUST00000207296]
[ENSMUST00000209065]
[ENSMUST00000207263]
[ENSMUST00000207779]
[ENSMUST00000208169]
[ENSMUST00000182634]
|
| AlphaFold |
Q9CQG6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005692
|
| SMART Domains |
Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:H-K_ATPase_N
|
2 |
42 |
5.4e-23 |
PFAM |
|
Cation_ATPase_N
|
52 |
126 |
2.26e-18 |
SMART |
|
Pfam:E1-E2_ATPase
|
144 |
375 |
1.1e-57 |
PFAM |
|
Pfam:Hydrolase
|
380 |
739 |
5.3e-16 |
PFAM |
|
Pfam:HAD
|
383 |
736 |
1.9e-18 |
PFAM |
|
Pfam:Cation_ATPase
|
436 |
531 |
1.6e-24 |
PFAM |
|
Pfam:Cation_ATPase_C
|
809 |
1019 |
4.8e-43 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000006478
AA Change: R115*
|
| SMART Domains |
Protein: ENSMUSP00000006478
Gene: ENSMUSG00000006315
AA Change: R115*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2053
|
2 |
158 |
3.1e-69 |
PFAM |
|
transmembrane domain
|
168 |
190 |
N/A |
INTRINSIC |
|
transmembrane domain
|
197 |
219 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074758
|
| SMART Domains |
Protein: ENSMUSP00000074317
Gene: ENSMUSG00000061099
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
46 |
N/A |
INTRINSIC |
|
Gp_dh_N
|
106 |
254 |
6.13e-79 |
SMART |
|
Pfam:Gp_dh_C
|
259 |
416 |
2.3e-75 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165410
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170371
|
| SMART Domains |
Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:H-K_ATPase_N
|
2 |
42 |
4.9e-28 |
PFAM |
|
Cation_ATPase_N
|
52 |
126 |
2.26e-18 |
SMART |
|
Pfam:E1-E2_ATPase
|
145 |
376 |
1e-62 |
PFAM |
|
Pfam:Hydrolase
|
380 |
730 |
9.3e-25 |
PFAM |
|
Pfam:HAD
|
383 |
727 |
2.1e-15 |
PFAM |
|
Pfam:Hydrolase_like2
|
436 |
531 |
4e-25 |
PFAM |
|
Pfam:Cation_ATPase_C
|
800 |
1010 |
1.5e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180820
|
| SMART Domains |
Protein: ENSMUSP00000137757
Gene: ENSMUSG00000097320
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1i7oa2
|
53 |
93 |
5e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182067
|
| SMART Domains |
Protein: ENSMUSP00000138697
Gene: ENSMUSG00000061099
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2VYV|D
|
1 |
44 |
3e-15 |
PDB |
|
Blast:Gp_dh_N
|
4 |
33 |
9e-7 |
BLAST |
|
SCOP:d1cf2o2
|
9 |
45 |
3e-13 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207296
AA Change: R115*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209065
AA Change: R66*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207263
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183194
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207955
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207779
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208169
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182634
|
| SMART Domains |
Protein: ENSMUSP00000138634
Gene: ENSMUSG00000061099
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
48 |
N/A |
INTRINSIC |
|
Gp_dh_N
|
108 |
256 |
6.13e-79 |
SMART |
|
Pfam:Gp_dh_C
|
261 |
418 |
4.4e-77 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
T |
C |
1: 125,339,011 (GRCm39) |
Y109C |
probably damaging |
Het |
| Agap3 |
T |
A |
5: 24,703,107 (GRCm39) |
L568Q |
probably damaging |
Het |
| Baiap2 |
T |
C |
11: 119,897,234 (GRCm39) |
S530P |
probably damaging |
Het |
| Bmpr1a |
T |
C |
14: 34,156,376 (GRCm39) |
I164V |
probably benign |
Het |
| Btaf1 |
A |
G |
19: 36,947,330 (GRCm39) |
N473S |
probably benign |
Het |
| Egr4 |
T |
C |
6: 85,489,487 (GRCm39) |
D191G |
probably damaging |
Het |
| Eprs1 |
G |
T |
1: 185,139,345 (GRCm39) |
C910F |
probably benign |
Het |
| Grk4 |
T |
A |
5: 34,852,162 (GRCm39) |
N135K |
probably benign |
Het |
| Hectd1 |
T |
C |
12: 51,820,787 (GRCm39) |
N1134S |
probably benign |
Het |
| Macrod2 |
T |
G |
2: 140,242,797 (GRCm39) |
M21R |
probably damaging |
Het |
| Mtx3 |
G |
T |
13: 92,984,384 (GRCm39) |
Q188H |
possibly damaging |
Het |
| Otx1 |
T |
C |
11: 21,946,794 (GRCm39) |
|
probably benign |
Het |
| Pcdhb8 |
T |
G |
18: 37,489,423 (GRCm39) |
F26C |
probably damaging |
Het |
| Pdgfra |
T |
A |
5: 75,341,708 (GRCm39) |
I647K |
probably damaging |
Het |
| Psapl1 |
C |
A |
5: 36,362,975 (GRCm39) |
N522K |
probably benign |
Het |
| Rbm10 |
T |
A |
X: 20,516,931 (GRCm39) |
|
probably benign |
Het |
| Rbm10 |
G |
A |
X: 20,516,932 (GRCm39) |
|
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,572,762 (GRCm39) |
E734G |
probably damaging |
Het |
| Sec24c |
T |
C |
14: 20,742,463 (GRCm39) |
V837A |
probably damaging |
Het |
| Shoc1 |
T |
A |
4: 59,094,201 (GRCm39) |
R174S |
possibly damaging |
Het |
| Sohlh2 |
C |
T |
3: 55,111,747 (GRCm39) |
|
probably benign |
Het |
| Tex10 |
G |
A |
4: 48,469,937 (GRCm39) |
Q43* |
probably null |
Het |
| Tmem150c |
G |
T |
5: 100,240,810 (GRCm39) |
H51N |
probably benign |
Het |
| Usp47 |
A |
T |
7: 111,662,542 (GRCm39) |
K228M |
probably damaging |
Het |
|
| Other mutations in Tmem147 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02491:Tmem147
|
APN |
7 |
30,427,626 (GRCm39) |
splice site |
probably benign |
|
|
IGL02971:Tmem147
|
APN |
7 |
30,428,847 (GRCm39) |
unclassified |
probably benign |
|
|
R0070:Tmem147
|
UTSW |
7 |
30,427,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0609:Tmem147
|
UTSW |
7 |
30,427,527 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1167:Tmem147
|
UTSW |
7 |
30,427,221 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1254:Tmem147
|
UTSW |
7 |
30,428,795 (GRCm39) |
nonsense |
probably null |
|
|
R5983:Tmem147
|
UTSW |
7 |
30,427,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6072:Tmem147
|
UTSW |
7 |
30,427,445 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7636:Tmem147
|
UTSW |
7 |
30,427,726 (GRCm39) |
splice site |
probably null |
|
|
R7705:Tmem147
|
UTSW |
7 |
30,427,716 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8042:Tmem147
|
UTSW |
7 |
30,427,978 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8132:Tmem147
|
UTSW |
7 |
30,427,872 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8477:Tmem147
|
UTSW |
7 |
30,427,656 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation