Incidental Mutation 'R8033:Tmem144'
| ID |
618073 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem144
|
| Ensembl Gene |
ENSMUSG00000027956 |
| Gene Name |
transmembrane protein 144 |
| Synonyms |
5730537D05Rik, 1110057I03Rik |
| MMRRC Submission |
067470-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R8033 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
79719871-79760080 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 79732624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 218
(R218K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029568]
[ENSMUST00000168038]
|
| AlphaFold |
Q8VEH0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029568
AA Change: R218K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029568
Gene: ENSMUSG00000027956
AA Change: R218K
| 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: R218K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127837
Gene: ENSMUSG00000027956
AA Change: R218K
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,927,348 (GRCm39) |
I1335K |
probably damaging |
Het |
| Adgrb2 |
A |
G |
4: 129,912,805 (GRCm39) |
E1277G |
probably benign |
Het |
| Agbl3 |
A |
G |
6: 34,816,429 (GRCm39) |
T785A |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 8,981,074 (GRCm39) |
V786A |
probably benign |
Het |
| Armc2 |
A |
G |
10: 41,884,680 (GRCm39) |
I87T |
possibly damaging |
Het |
| Asap2 |
T |
C |
12: 21,274,390 (GRCm39) |
S373P |
probably damaging |
Het |
| Casd1 |
A |
T |
6: 4,619,773 (GRCm39) |
I173F |
probably benign |
Het |
| Chd2 |
A |
G |
7: 73,085,628 (GRCm39) |
Y1669H |
probably damaging |
Het |
| Clic3 |
A |
G |
2: 25,348,617 (GRCm39) |
E199G |
probably benign |
Het |
| Cpa4 |
G |
A |
6: 30,590,799 (GRCm39) |
V366I |
probably benign |
Het |
| Creg2 |
T |
C |
1: 39,689,795 (GRCm39) |
Y105C |
probably damaging |
Het |
| Cyp20a1 |
T |
C |
1: 60,411,750 (GRCm39) |
I266T |
probably benign |
Het |
| Dido1 |
T |
C |
2: 180,316,635 (GRCm39) |
D685G |
probably damaging |
Het |
| Dop1b |
C |
G |
16: 93,566,371 (GRCm39) |
R1051G |
probably benign |
Het |
| Fam114a2 |
A |
G |
11: 57,398,333 (GRCm39) |
S202P |
probably damaging |
Het |
| Fance |
G |
T |
17: 28,532,659 (GRCm39) |
|
probably benign |
Het |
| Farsa |
T |
A |
8: 85,594,198 (GRCm39) |
L316Q |
probably benign |
Het |
| Fcrl6 |
T |
C |
1: 172,426,748 (GRCm39) |
D66G |
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gh |
A |
T |
11: 106,191,381 (GRCm39) |
D154E |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,756,767 (GRCm39) |
V1160E |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,212,996 (GRCm39) |
T1886A |
probably benign |
Het |
| Lrwd1 |
G |
A |
5: 136,152,079 (GRCm39) |
L633F |
probably damaging |
Het |
| Mmp15 |
A |
T |
8: 96,094,590 (GRCm39) |
N155Y |
probably benign |
Het |
| Msantd5f6 |
T |
C |
4: 73,321,329 (GRCm39) |
N143D |
probably benign |
Het |
| Mtf2 |
T |
G |
5: 108,234,951 (GRCm39) |
C125G |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,547,902 (GRCm39) |
D6130E |
probably benign |
Het |
| Or5m9b |
T |
A |
2: 85,905,219 (GRCm39) |
I45N |
possibly damaging |
Het |
| Orc1 |
T |
A |
4: 108,462,761 (GRCm39) |
Y613N |
probably damaging |
Het |
| Pak1 |
A |
G |
7: 97,535,590 (GRCm39) |
N227S |
probably benign |
Het |
| Pex3 |
G |
A |
10: 13,407,024 (GRCm39) |
Q306* |
probably null |
Het |
| Pld1 |
A |
T |
3: 28,083,359 (GRCm39) |
M160L |
probably benign |
Het |
| Plekhh1 |
G |
A |
12: 79,117,710 (GRCm39) |
R902H |
probably benign |
Het |
| Prp2 |
A |
G |
6: 132,577,391 (GRCm39) |
H226R |
unknown |
Het |
| Rad21 |
T |
G |
15: 51,827,628 (GRCm39) |
T578P |
probably damaging |
Het |
| Sp140 |
G |
A |
1: 85,547,815 (GRCm39) |
V181I |
probably benign |
Het |
| Spen |
A |
G |
4: 141,199,057 (GRCm39) |
V3190A |
probably benign |
Het |
| Spg11 |
A |
C |
2: 121,917,432 (GRCm39) |
C1011W |
probably damaging |
Het |
| Syngr3 |
G |
A |
17: 24,905,579 (GRCm39) |
R132* |
probably null |
Het |
| Tbc1d10c |
A |
G |
19: 4,238,013 (GRCm39) |
F254L |
possibly damaging |
Het |
| Tcea1 |
T |
A |
1: 4,962,141 (GRCm39) |
I176K |
probably damaging |
Het |
| Timm50 |
G |
A |
7: 28,006,258 (GRCm39) |
A281V |
possibly damaging |
Het |
| Upp2 |
A |
G |
2: 58,670,071 (GRCm39) |
Y259C |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,852,479 (GRCm39) |
V827A |
probably benign |
Het |
| Vps41 |
T |
A |
13: 18,994,635 (GRCm39) |
W161R |
possibly damaging |
Het |
| Zfp994 |
A |
T |
17: 22,419,665 (GRCm39) |
I428N |
probably damaging |
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 |
|
|
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 |
|
|
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'- TGTGTGTTACAGATCCCATGAAAAC -3'
(R):5'- GTCTGGCTTCTGCTAAACTGC -3'
Sequencing Primer
(F):5'- TGAAAACATTTCAGTGCCCAC -3'
(R):5'- GCTTCTGCTAAACTGCTAAAAATTTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation