Incidental Mutation 'R4156:Tmem54'
| ID |
315531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem54
|
| Ensembl Gene |
ENSMUSG00000028786 |
| Gene Name |
transmembrane protein 54 |
| Synonyms |
1810017F10Rik |
| MMRRC Submission |
040862-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R4156 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
128999341-129005419 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 129004504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 151
(R151Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030572]
[ENSMUST00000030575]
[ENSMUST00000030577]
[ENSMUST00000095807]
[ENSMUST00000106064]
[ENSMUST00000116442]
[ENSMUST00000116444]
[ENSMUST00000149763]
[ENSMUST00000164649]
[ENSMUST00000125931]
[ENSMUST00000139450]
[ENSMUST00000148979]
|
| AlphaFold |
Q9D7S1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030572
|
| SMART Domains |
Protein: ENSMUSP00000030572
Gene: ENSMUSG00000028785
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
64 |
92 |
2.37e-3 |
SMART |
|
EFh
|
100 |
128 |
3.1e-7 |
SMART |
|
EFh
|
148 |
176 |
1.29e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030575
AA Change: R131Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030575
Gene: ENSMUSG00000028786
AA Change: R131Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BCLP
|
18 |
71 |
2.8e-23 |
PFAM |
|
Pfam:BCLP
|
69 |
180 |
1.4e-43 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030577
AA Change: R151Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030577
Gene: ENSMUSG00000028786
AA Change: R151Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BCLP
|
18 |
200 |
5e-80 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095807
|
| SMART Domains |
Protein: ENSMUSP00000093486
Gene: ENSMUSG00000028785
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
64 |
92 |
2.37e-3 |
SMART |
|
EFh
|
100 |
128 |
3.1e-7 |
SMART |
|
EFh
|
148 |
176 |
1.29e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106064
AA Change: R151Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101679
Gene: ENSMUSG00000028786
AA Change: R151Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BCLP
|
18 |
199 |
6.7e-66 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116442
|
| SMART Domains |
Protein: ENSMUSP00000112143
Gene: ENSMUSG00000028785
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
64 |
92 |
2.37e-3 |
SMART |
|
EFh
|
100 |
128 |
3.1e-7 |
SMART |
|
EFh
|
148 |
176 |
1.29e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116444
|
| SMART Domains |
Protein: ENSMUSP00000112145
Gene: ENSMUSG00000028785
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
64 |
92 |
2.37e-3 |
SMART |
|
EFh
|
100 |
128 |
3.1e-7 |
SMART |
|
EFh
|
148 |
176 |
1.29e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149763
|
| SMART Domains |
Protein: ENSMUSP00000115619
Gene: ENSMUSG00000028785
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
64 |
92 |
2.37e-3 |
SMART |
|
EFh
|
100 |
128 |
3.1e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164649
|
| SMART Domains |
Protein: ENSMUSP00000129548
Gene: ENSMUSG00000028785
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
64 |
92 |
2.37e-3 |
SMART |
|
EFh
|
100 |
128 |
3.1e-7 |
SMART |
|
EFh
|
148 |
176 |
1.29e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125931
|
| SMART Domains |
Protein: ENSMUSP00000115031
Gene: ENSMUSG00000028785
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
64 |
92 |
2.37e-3 |
SMART |
|
EFh
|
100 |
128 |
3.1e-7 |
SMART |
|
EFh
|
148 |
176 |
1.29e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139450
|
| SMART Domains |
Protein: ENSMUSP00000119178
Gene: ENSMUSG00000028785
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
64 |
92 |
2.37e-3 |
SMART |
|
EFh
|
100 |
128 |
3.1e-7 |
SMART |
|
EFh
|
148 |
176 |
1.29e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148979
|
| SMART Domains |
Protein: ENSMUSP00000123006
Gene: ENSMUSG00000028786
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BCLP
|
29 |
106 |
3.2e-35 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
96% (44/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
T |
A |
3: 145,644,018 (GRCm39) |
F69I |
possibly damaging |
Het |
| Acot12 |
C |
T |
13: 91,932,882 (GRCm39) |
L552F |
probably benign |
Het |
| Aff4 |
T |
A |
11: 53,301,726 (GRCm39) |
|
probably benign |
Het |
| Aldh18a1 |
A |
G |
19: 40,539,725 (GRCm39) |
V750A |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,469,149 (GRCm39) |
|
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Bcl11b |
A |
T |
12: 107,883,684 (GRCm39) |
|
probably null |
Het |
| Ccpg1 |
C |
A |
9: 72,919,449 (GRCm39) |
Q355K |
probably benign |
Het |
| Cdc42bpb |
G |
A |
12: 111,260,573 (GRCm39) |
P1702S |
probably benign |
Het |
| Ddx20 |
G |
T |
3: 105,586,249 (GRCm39) |
Q699K |
probably benign |
Het |
| Ecd |
A |
G |
14: 20,374,632 (GRCm39) |
S503P |
probably damaging |
Het |
| Etaa1 |
C |
T |
11: 17,890,281 (GRCm39) |
R860Q |
probably damaging |
Het |
| Ffar2 |
T |
A |
7: 30,519,093 (GRCm39) |
Y149F |
probably damaging |
Het |
| Gamt |
T |
A |
10: 80,096,558 (GRCm39) |
R60* |
probably null |
Het |
| Gm6871 |
T |
C |
7: 41,195,510 (GRCm39) |
N302S |
probably damaging |
Het |
| Hps3 |
A |
G |
3: 20,083,393 (GRCm39) |
S135P |
probably damaging |
Het |
| Ifi203 |
T |
A |
1: 173,764,106 (GRCm39) |
N122I |
probably damaging |
Het |
| Leng9 |
T |
C |
7: 4,152,433 (GRCm39) |
D81G |
possibly damaging |
Het |
| Lrrc23 |
T |
A |
6: 124,747,804 (GRCm39) |
K262* |
probably null |
Het |
| Morc2b |
T |
A |
17: 33,357,401 (GRCm39) |
T124S |
probably benign |
Het |
| Mroh1 |
G |
A |
15: 76,286,326 (GRCm39) |
|
probably null |
Het |
| Naxe |
T |
C |
3: 87,964,011 (GRCm39) |
K240R |
probably benign |
Het |
| Ncan |
C |
A |
8: 70,562,727 (GRCm39) |
E510D |
possibly damaging |
Het |
| Ndufs4 |
A |
T |
13: 114,444,390 (GRCm39) |
S129R |
probably benign |
Het |
| Oog2 |
A |
G |
4: 143,920,523 (GRCm39) |
|
probably benign |
Het |
| Or5h18 |
A |
T |
16: 58,847,931 (GRCm39) |
F113Y |
probably damaging |
Het |
| Or8h8 |
T |
C |
2: 86,753,222 (GRCm39) |
Y218C |
probably damaging |
Het |
| Or8j3c |
C |
A |
2: 86,253,544 (GRCm39) |
V159L |
possibly damaging |
Het |
| Papola |
G |
A |
12: 105,767,010 (GRCm39) |
|
probably null |
Het |
| Pasd1 |
T |
C |
X: 70,983,161 (GRCm39) |
C378R |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,056,453 (GRCm39) |
S4517P |
probably damaging |
Het |
| Rpap1 |
C |
T |
2: 119,604,660 (GRCm39) |
R416H |
probably damaging |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Rxfp2 |
G |
A |
5: 149,975,020 (GRCm39) |
V210I |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,484,020 (GRCm39) |
D3909G |
probably damaging |
Het |
| Spata31d1a |
T |
A |
13: 59,852,861 (GRCm39) |
K76N |
possibly damaging |
Het |
| Srgn |
A |
G |
10: 62,333,613 (GRCm39) |
F55L |
possibly damaging |
Het |
| Tns1 |
T |
A |
1: 73,953,790 (GRCm39) |
N1848Y |
probably damaging |
Het |
| Trim33 |
G |
T |
3: 103,217,630 (GRCm39) |
V192L |
possibly damaging |
Het |
| Trpm5 |
G |
T |
7: 142,642,792 (GRCm39) |
L52I |
probably benign |
Het |
| Uaca |
A |
G |
9: 60,779,035 (GRCm39) |
S1141G |
probably benign |
Het |
| Vmn1r63 |
T |
C |
7: 5,806,531 (GRCm39) |
T34A |
possibly damaging |
Het |
| Vmn2r50 |
T |
C |
7: 9,774,309 (GRCm39) |
K529R |
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,995,743 (GRCm39) |
T302A |
possibly damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,104,177 (GRCm39) |
|
probably benign |
Het |
| Zfp410 |
G |
A |
12: 84,374,206 (GRCm39) |
R181H |
probably damaging |
Het |
|
| Other mutations in Tmem54 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02471:Tmem54
|
APN |
4 |
129,002,111 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02475:Tmem54
|
APN |
4 |
129,002,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03107:Tmem54
|
APN |
4 |
129,004,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3804:Tmem54
|
UTSW |
4 |
129,002,013 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4157:Tmem54
|
UTSW |
4 |
129,004,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4664:Tmem54
|
UTSW |
4 |
129,004,704 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4959:Tmem54
|
UTSW |
4 |
129,002,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6699:Tmem54
|
UTSW |
4 |
129,005,118 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7037:Tmem54
|
UTSW |
4 |
129,004,594 (GRCm39) |
splice site |
probably null |
|
|
R9056:Tmem54
|
UTSW |
4 |
129,002,120 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGCTCTTTCTGCCTAGCG -3'
(R):5'- TTAGTTCCAGTAGTCCATGCATG -3'
Sequencing Primer
(F):5'- TTCTGCCTAGCGCTGGAC -3'
(R):5'- TCCAGTAGTCCATGCATGAGCTG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation