Incidental Mutation 'IGL00594:Tmem144'
| ID |
6862 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem144
|
| Ensembl Gene |
ENSMUSG00000027956 |
| Gene Name |
transmembrane protein 144 |
| Synonyms |
5730537D05Rik, 1110057I03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
IGL00594
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
79719871-79760080 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79746474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 27
(V27A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029568]
[ENSMUST00000168038]
[ENSMUST00000192341]
[ENSMUST00000193410]
|
| AlphaFold |
Q8VEH0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029568
AA Change: V27A
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000029568
Gene: ENSMUSG00000027956
AA Change: V27A
| 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 |
noncoding transcript
Transcript: ENSMUST00000104273
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168038
AA Change: V27A
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000127837
Gene: ENSMUSG00000027956
AA Change: V27A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM144
|
9 |
347 |
9.1e-142 |
PFAM |
|
Pfam:Sugar_transport
|
238 |
348 |
4.9e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192341
AA Change: V27A
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193410
AA Change: V27A
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000141832
Gene: ENSMUSG00000027956
AA Change: V27A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1632
|
11 |
137 |
7.3e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194338
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
A |
G |
1: 192,857,109 (GRCm39) |
T154A |
probably benign |
Het |
| Acox1 |
A |
G |
11: 116,065,331 (GRCm39) |
|
probably benign |
Het |
| Adgrg2 |
G |
A |
X: 159,268,773 (GRCm39) |
V677I |
probably benign |
Het |
| Aifm1 |
T |
C |
X: 47,570,976 (GRCm39) |
T386A |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,415,160 (GRCm39) |
|
probably benign |
Het |
| Fgfr2 |
A |
G |
7: 129,830,453 (GRCm39) |
V175A |
probably damaging |
Het |
| Gm382 |
T |
C |
X: 125,970,775 (GRCm39) |
Y987H |
probably benign |
Het |
| Golga3 |
A |
T |
5: 110,352,841 (GRCm39) |
M911L |
probably benign |
Het |
| Hmgxb3 |
A |
G |
18: 61,290,811 (GRCm39) |
V354A |
probably benign |
Het |
| Ifne |
T |
C |
4: 88,798,041 (GRCm39) |
N126D |
probably benign |
Het |
| Igkv3-7 |
T |
C |
6: 70,584,807 (GRCm39) |
V49A |
possibly damaging |
Het |
| Kbtbd8 |
A |
T |
6: 95,103,494 (GRCm39) |
Y381F |
probably damaging |
Het |
| Klc1 |
C |
T |
12: 111,743,318 (GRCm39) |
T215M |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,316,624 (GRCm39) |
V2119E |
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 157,892,647 (GRCm39) |
V322A |
probably benign |
Het |
| Mageb5b |
C |
T |
X: 90,679,091 (GRCm39) |
Q348* |
probably null |
Het |
| Ms4a14 |
A |
G |
19: 11,278,983 (GRCm39) |
S1192P |
possibly damaging |
Het |
| Ndufaf6 |
T |
C |
4: 11,062,127 (GRCm39) |
Y168C |
probably damaging |
Het |
| Plcg2 |
C |
T |
8: 118,282,810 (GRCm39) |
T97I |
possibly damaging |
Het |
| Rasgrp4 |
T |
C |
7: 28,847,966 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,083,777 (GRCm39) |
H515R |
probably benign |
Het |
| Rpn1 |
G |
T |
6: 88,072,611 (GRCm39) |
R318L |
probably damaging |
Het |
| Shroom2 |
A |
T |
X: 151,396,512 (GRCm39) |
F1359Y |
probably damaging |
Het |
| Tars3 |
T |
A |
7: 65,325,880 (GRCm39) |
|
probably null |
Het |
| Tbc1d12 |
A |
G |
19: 38,884,487 (GRCm39) |
E346G |
possibly damaging |
Het |
| Tbccd1 |
A |
G |
16: 22,641,294 (GRCm39) |
F361S |
possibly damaging |
Het |
| Tenm1 |
G |
T |
X: 41,803,913 (GRCm39) |
P837T |
probably benign |
Het |
| Zfp616 |
T |
A |
11: 73,973,789 (GRCm39) |
N19K |
possibly damaging |
Het |
| Zkscan7 |
T |
C |
9: 122,724,659 (GRCm39) |
Y543H |
possibly damaging |
Het |
|
| Other mutations in Tmem144 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R5241:Tmem144
|
UTSW |
3 |
79,721,431 (GRCm39) |
missense |
probably benign |
0.13 |
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation