Incidental Mutation 'R0070:Tmem147'
ID |
17029 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem147
|
Ensembl Gene |
ENSMUSG00000006315 |
Gene Name |
transmembrane protein 147 |
Synonyms |
2010004E11Rik, 5033425B17Rik |
MMRRC Submission |
038361-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.921)
|
Stock # |
R0070 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
30427126-30428959 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30427526 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 97
(Y97C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146918
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005692]
[ENSMUST00000006478]
[ENSMUST00000074758]
[ENSMUST00000170371]
[ENSMUST00000182067]
[ENSMUST00000209065]
[ENSMUST00000207296]
[ENSMUST00000208169]
[ENSMUST00000207263]
[ENSMUST00000207779]
[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 damaging
Transcript: ENSMUST00000006478
AA Change: Y146C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000006478 Gene: ENSMUSG00000006315 AA Change: Y146C
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 damaging
Transcript: ENSMUST00000209065
AA Change: Y97C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000207296
AA Change: Y153C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208169
AA Change: Y72C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
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: 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 |
|
Meta Mutation Damage Score |
0.5691 |
Coding Region Coverage |
- 1x: 88.0%
- 3x: 83.9%
- 10x: 69.3%
- 20x: 41.9%
|
Validation Efficiency |
88% (67/76) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre4 |
T |
C |
17: 56,109,154 (GRCm39) |
I387T |
probably damaging |
Het |
Ankfn1 |
A |
T |
11: 89,283,128 (GRCm39) |
L173Q |
probably damaging |
Het |
Atp2a1 |
T |
C |
7: 126,046,624 (GRCm39) |
E892G |
probably benign |
Het |
AU018091 |
T |
C |
7: 3,208,738 (GRCm39) |
|
probably null |
Het |
Capn12 |
T |
C |
7: 28,588,551 (GRCm39) |
|
probably benign |
Het |
Capn2 |
C |
A |
1: 182,301,434 (GRCm39) |
|
probably benign |
Het |
Cd79b |
A |
G |
11: 106,202,744 (GRCm39) |
|
probably benign |
Het |
Cdh20 |
C |
T |
1: 110,026,102 (GRCm39) |
A446V |
probably benign |
Het |
Ciapin1 |
T |
C |
8: 95,551,847 (GRCm39) |
N246S |
possibly damaging |
Het |
Flt3 |
A |
G |
5: 147,309,536 (GRCm39) |
|
probably benign |
Het |
Gm2027 |
T |
A |
12: 44,269,145 (GRCm39) |
|
probably benign |
Het |
Hipk2 |
G |
A |
6: 38,795,919 (GRCm39) |
R117* |
probably null |
Het |
Hycc1 |
T |
C |
5: 24,169,997 (GRCm39) |
S451G |
probably damaging |
Het |
Hykk |
T |
A |
9: 54,829,632 (GRCm39) |
|
probably benign |
Het |
Kansl1l |
T |
C |
1: 66,840,262 (GRCm39) |
D346G |
probably damaging |
Het |
Kcnt1 |
T |
C |
2: 25,782,374 (GRCm39) |
V191A |
probably benign |
Het |
Lcorl |
G |
A |
5: 45,891,043 (GRCm39) |
R437C |
probably damaging |
Het |
Mtch1 |
T |
A |
17: 29,559,033 (GRCm39) |
|
probably benign |
Het |
Myo1c |
A |
G |
11: 75,551,076 (GRCm39) |
N217S |
probably benign |
Het |
Nav2 |
A |
G |
7: 49,220,462 (GRCm39) |
E1669G |
probably damaging |
Het |
Or2h15 |
A |
G |
17: 38,441,780 (GRCm39) |
L101P |
probably damaging |
Het |
Or2w4 |
T |
C |
13: 21,795,431 (GRCm39) |
K236R |
possibly damaging |
Het |
Or5p51 |
T |
G |
7: 107,444,124 (GRCm39) |
D272A |
probably damaging |
Het |
Phf20l1 |
T |
G |
15: 66,511,840 (GRCm39) |
W940G |
probably damaging |
Het |
Pi4k2b |
A |
C |
5: 52,914,260 (GRCm39) |
D309A |
probably damaging |
Het |
Pkd2 |
T |
C |
5: 104,614,856 (GRCm39) |
C233R |
probably damaging |
Het |
Prkd3 |
A |
G |
17: 79,261,939 (GRCm39) |
Y792H |
probably damaging |
Het |
Pxdn |
T |
C |
12: 30,032,726 (GRCm39) |
L146S |
probably damaging |
Het |
Serpinh1 |
A |
T |
7: 98,998,521 (GRCm39) |
S36R |
probably damaging |
Het |
Setx |
A |
T |
2: 29,051,537 (GRCm39) |
T2030S |
probably benign |
Het |
Sin3b |
T |
A |
8: 73,452,210 (GRCm39) |
H105Q |
probably damaging |
Het |
Slx4 |
A |
T |
16: 3,805,880 (GRCm39) |
D557E |
possibly damaging |
Het |
Stag1 |
C |
T |
9: 100,838,461 (GRCm39) |
P1238S |
probably null |
Het |
Stra6 |
C |
T |
9: 58,059,898 (GRCm39) |
|
probably benign |
Het |
Taok1 |
T |
A |
11: 77,444,543 (GRCm39) |
M511L |
probably benign |
Het |
Tmem127 |
T |
C |
2: 127,098,979 (GRCm39) |
V171A |
probably damaging |
Het |
Tmem150a |
A |
G |
6: 72,335,742 (GRCm39) |
|
probably null |
Het |
Top2a |
C |
G |
11: 98,905,886 (GRCm39) |
|
probably null |
Het |
Zc3hav1l |
A |
T |
6: 38,272,125 (GRCm39) |
S215T |
probably damaging |
Het |
Zscan20 |
C |
T |
4: 128,479,675 (GRCm39) |
V939I |
possibly damaging |
Het |
|
Other mutations in Tmem147 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00574:Tmem147
|
APN |
7 |
30,427,858 (GRCm39) |
nonsense |
probably null |
|
IGL02491:Tmem147
|
APN |
7 |
30,427,626 (GRCm39) |
splice site |
probably benign |
|
IGL02971:Tmem147
|
APN |
7 |
30,428,847 (GRCm39) |
unclassified |
probably benign |
|
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 |
2013-01-20 |