Incidental Mutation 'R5241:Tmem144'
| ID |
400806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem144
|
| Ensembl Gene |
ENSMUSG00000027956 |
| Gene Name |
transmembrane protein 144 |
| Synonyms |
5730537D05Rik, 1110057I03Rik |
| MMRRC Submission |
042812-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R5241 (G1)
|
| Quality Score |
160 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
79719871-79760080 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79721431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 329
(M329K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127837
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029568]
[ENSMUST00000168038]
|
| AlphaFold |
Q8VEH0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029568
AA Change: M329K
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000029568
Gene: ENSMUSG00000027956
AA Change: M329K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1632
|
11 |
266 |
3.7e-107 |
PFAM |
|
Pfam:Sugar_transport
|
238 |
348 |
3.6e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168038
AA Change: M329K
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000127837
Gene: ENSMUSG00000027956
AA Change: M329K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM144
|
9 |
347 |
9.1e-142 |
PFAM |
|
Pfam:Sugar_transport
|
238 |
348 |
4.9e-13 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 91.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930033H14Rik |
A |
G |
10: 69,048,581 (GRCm39) |
|
probably null |
Het |
| Adgrb3 |
T |
C |
1: 25,150,871 (GRCm39) |
T881A |
possibly damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,637,048 (GRCm39) |
C3464* |
probably null |
Het |
| Afp |
A |
G |
5: 90,649,473 (GRCm39) |
M347V |
probably benign |
Het |
| Apc2 |
A |
G |
10: 80,148,068 (GRCm39) |
T1041A |
probably benign |
Het |
| Atl1 |
T |
C |
12: 70,005,887 (GRCm39) |
S398P |
possibly damaging |
Het |
| Atp8b4 |
G |
A |
2: 126,225,646 (GRCm39) |
P528L |
probably benign |
Het |
| Bahcc1 |
C |
A |
11: 120,162,229 (GRCm39) |
P176T |
probably damaging |
Het |
| Bsnd |
A |
G |
4: 106,345,182 (GRCm39) |
V88A |
probably benign |
Het |
| Dnah7c |
T |
A |
1: 46,569,660 (GRCm39) |
F687Y |
probably benign |
Het |
| Dok6 |
T |
C |
18: 89,616,913 (GRCm39) |
I23M |
possibly damaging |
Het |
| Fcgbp |
A |
T |
7: 27,784,624 (GRCm39) |
D228V |
probably damaging |
Het |
| Gatad2a |
G |
A |
8: 70,370,667 (GRCm39) |
Q107* |
probably null |
Het |
| Glis3 |
G |
T |
19: 28,327,423 (GRCm39) |
T663K |
probably benign |
Het |
| Gm10784 |
T |
A |
13: 50,099,129 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdmc2 |
C |
T |
15: 63,696,743 (GRCm39) |
R476H |
probably benign |
Het |
| Gsdmc3 |
A |
G |
15: 63,735,995 (GRCm39) |
S202P |
possibly damaging |
Het |
| Map3k8 |
T |
C |
18: 4,340,750 (GRCm39) |
E188G |
probably damaging |
Het |
| Mccc1 |
T |
A |
3: 36,028,345 (GRCm39) |
Q487L |
probably benign |
Het |
| Msantd1 |
A |
G |
5: 35,078,813 (GRCm39) |
D116G |
probably damaging |
Het |
| Myh1 |
T |
A |
11: 67,095,275 (GRCm39) |
S212T |
probably benign |
Het |
| Nr1h4 |
A |
G |
10: 89,319,351 (GRCm39) |
Y158H |
probably damaging |
Het |
| Or4p19 |
T |
C |
2: 88,242,442 (GRCm39) |
T187A |
possibly damaging |
Het |
| Or51f1e |
T |
C |
7: 102,747,524 (GRCm39) |
V192A |
probably benign |
Het |
| Or6k8-ps1 |
T |
A |
1: 173,979,667 (GRCm39) |
I195N |
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,269,451 (GRCm39) |
H272Q |
probably benign |
Het |
| Pdia5 |
T |
C |
16: 35,250,145 (GRCm39) |
N242S |
probably benign |
Het |
| Pkd1l2 |
A |
T |
8: 117,761,857 (GRCm39) |
D1441E |
probably damaging |
Het |
| Runx2 |
G |
T |
17: 44,950,664 (GRCm39) |
Y203* |
probably null |
Het |
| Sdr9c7 |
T |
G |
10: 127,745,659 (GRCm39) |
I257S |
probably benign |
Het |
| Slitrk1 |
A |
G |
14: 109,150,444 (GRCm39) |
M89T |
probably benign |
Het |
| St14 |
G |
T |
9: 31,011,714 (GRCm39) |
C397* |
probably null |
Het |
| Tas2r123 |
T |
C |
6: 132,824,181 (GRCm39) |
I26T |
probably benign |
Het |
| Tmem252 |
T |
C |
19: 24,651,491 (GRCm39) |
M20T |
probably benign |
Het |
| Umodl1 |
T |
C |
17: 31,203,066 (GRCm39) |
V473A |
probably benign |
Het |
| Wdr70 |
A |
G |
15: 8,108,700 (GRCm39) |
C149R |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,312,704 (GRCm39) |
R58* |
probably null |
Het |
| Zer1 |
A |
C |
2: 29,994,982 (GRCm39) |
L471R |
probably damaging |
Het |
| Zfp101 |
C |
T |
17: 33,601,210 (GRCm39) |
C182Y |
probably benign |
Het |
|
| Other mutations in Tmem144 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00594:Tmem144
|
APN |
3 |
79,746,474 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01924:Tmem144
|
APN |
3 |
79,746,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02080:Tmem144
|
APN |
3 |
79,730,066 (GRCm39) |
splice site |
probably benign |
|
|
IGL02191:Tmem144
|
APN |
3 |
79,734,159 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL02880:Tmem144
|
APN |
3 |
79,734,929 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4486001:Tmem144
|
UTSW |
3 |
79,734,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0080:Tmem144
|
UTSW |
3 |
79,746,580 (GRCm39) |
start gained |
probably benign |
|
|
R0081:Tmem144
|
UTSW |
3 |
79,746,580 (GRCm39) |
start gained |
probably benign |
|
|
R0164:Tmem144
|
UTSW |
3 |
79,746,580 (GRCm39) |
start gained |
probably benign |
|
|
R0172:Tmem144
|
UTSW |
3 |
79,746,580 (GRCm39) |
start gained |
probably benign |
|
|
R0173:Tmem144
|
UTSW |
3 |
79,746,580 (GRCm39) |
start gained |
probably benign |
|
|
R0284:Tmem144
|
UTSW |
3 |
79,746,580 (GRCm39) |
start gained |
probably benign |
|
|
R0285:Tmem144
|
UTSW |
3 |
79,746,580 (GRCm39) |
start gained |
probably benign |
|
|
R0288:Tmem144
|
UTSW |
3 |
79,746,580 (GRCm39) |
start gained |
probably benign |
|
|
R0445:Tmem144
|
UTSW |
3 |
79,732,661 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0549:Tmem144
|
UTSW |
3 |
79,730,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0687:Tmem144
|
UTSW |
3 |
79,746,580 (GRCm39) |
start gained |
probably benign |
|
|
R1720:Tmem144
|
UTSW |
3 |
79,732,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1748:Tmem144
|
UTSW |
3 |
79,732,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1937:Tmem144
|
UTSW |
3 |
79,732,611 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1955:Tmem144
|
UTSW |
3 |
79,734,164 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1978:Tmem144
|
UTSW |
3 |
79,732,707 (GRCm39) |
splice site |
probably null |
|
|
R2025:Tmem144
|
UTSW |
3 |
79,735,018 (GRCm39) |
splice site |
probably null |
|
|
R6674:Tmem144
|
UTSW |
3 |
79,746,490 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6862:Tmem144
|
UTSW |
3 |
79,739,406 (GRCm39) |
missense |
probably benign |
|
|
R7536:Tmem144
|
UTSW |
3 |
79,734,964 (GRCm39) |
missense |
probably benign |
|
|
R8033:Tmem144
|
UTSW |
3 |
79,732,624 (GRCm39) |
missense |
probably benign |
|
|
R8746:Tmem144
|
UTSW |
3 |
79,732,655 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8748:Tmem144
|
UTSW |
3 |
79,743,539 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9223:Tmem144
|
UTSW |
3 |
79,734,964 (GRCm39) |
missense |
probably benign |
|
|
R9641:Tmem144
|
UTSW |
3 |
79,734,200 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9658:Tmem144
|
UTSW |
3 |
79,729,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF012:Tmem144
|
UTSW |
3 |
79,729,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATTCCCAGAGTGGCAGAG -3'
(R):5'- TCTTGAATACCCAACAGGCC -3'
Sequencing Primer
(F):5'- TGGCAGAGACCCACAGTG -3'
(R):5'- TCTGCATCTAGATCTACAGGGCAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation