Incidental Mutation 'R3610:Tmem184a'
| ID |
269202 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem184a
|
| Ensembl Gene |
ENSMUSG00000036687 |
| Gene Name |
transmembrane protein 184a |
| Synonyms |
Sdmg1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R3610 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
139790707-139805725 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 139793710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106456
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044002]
[ENSMUST00000044002]
[ENSMUST00000110832]
[ENSMUST00000110832]
[ENSMUST00000146780]
[ENSMUST00000182839]
|
| AlphaFold |
Q3UFJ6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044002
|
| SMART Domains |
Protein: ENSMUSP00000035399
Gene: ENSMUSG00000036687
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
54 |
N/A |
INTRINSIC |
|
Pfam:Solute_trans_a
|
82 |
356 |
2.2e-93 |
PFAM |
|
low complexity region
|
408 |
435 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000044002
|
| SMART Domains |
Protein: ENSMUSP00000035399
Gene: ENSMUSG00000036687
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
54 |
N/A |
INTRINSIC |
|
Pfam:Solute_trans_a
|
82 |
356 |
2.2e-93 |
PFAM |
|
low complexity region
|
408 |
435 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110832
|
| SMART Domains |
Protein: ENSMUSP00000106456
Gene: ENSMUSG00000036687
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
30 |
N/A |
INTRINSIC |
|
Pfam:Solute_trans_a
|
55 |
332 |
6.7e-101 |
PFAM |
|
low complexity region
|
384 |
411 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110832
|
| SMART Domains |
Protein: ENSMUSP00000106456
Gene: ENSMUSG00000036687
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
30 |
N/A |
INTRINSIC |
|
Pfam:Solute_trans_a
|
55 |
332 |
6.7e-101 |
PFAM |
|
low complexity region
|
384 |
411 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132677
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146780
|
| SMART Domains |
Protein: ENSMUSP00000117714
Gene: ENSMUSG00000036687
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
30 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182839
|
| SMART Domains |
Protein: ENSMUSP00000138120
Gene: ENSMUSG00000098140
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2372
|
34 |
82 |
2e-14 |
PFAM |
|
low complexity region
|
94 |
102 |
N/A |
INTRINSIC |
|
Pfam:Solute_trans_a
|
127 |
226 |
3.5e-36 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf2 |
C |
A |
11: 94,452,172 (GRCm39) |
V457L |
probably benign |
Het |
| Cacna1a |
C |
A |
8: 85,285,694 (GRCm39) |
R733S |
probably damaging |
Het |
| Cc2d2a |
A |
T |
5: 43,869,668 (GRCm39) |
E856D |
probably damaging |
Het |
| Cpeb2 |
T |
C |
5: 43,443,276 (GRCm39) |
F989S |
probably damaging |
Het |
| Dcaf10 |
G |
T |
4: 45,372,962 (GRCm39) |
E409* |
probably null |
Het |
| Ddx3y |
T |
C |
Y: 1,263,928 (GRCm39) |
N545S |
probably null |
Het |
| Eef2k |
A |
G |
7: 120,488,458 (GRCm39) |
S448G |
probably benign |
Het |
| Irf2bpl |
T |
C |
12: 86,928,631 (GRCm39) |
I681V |
probably benign |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Morc2b |
A |
G |
17: 33,355,252 (GRCm39) |
V840A |
probably damaging |
Het |
| Pgap6 |
G |
A |
17: 26,337,860 (GRCm39) |
V415I |
probably benign |
Het |
| Rcl1 |
A |
G |
19: 29,095,630 (GRCm39) |
T72A |
probably benign |
Het |
| Robo1 |
T |
C |
16: 72,780,658 (GRCm39) |
F796S |
probably benign |
Het |
| Rsf1 |
A |
AAGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Tars1 |
T |
C |
15: 11,392,990 (GRCm39) |
Y152C |
probably damaging |
Het |
| Tsc2 |
A |
C |
17: 24,841,524 (GRCm39) |
I365S |
possibly damaging |
Het |
| Usp17la |
G |
A |
7: 104,510,279 (GRCm39) |
V295I |
probably damaging |
Het |
| Vim |
A |
T |
2: 13,583,437 (GRCm39) |
H253L |
possibly damaging |
Het |
|
| Other mutations in Tmem184a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01800:Tmem184a
|
APN |
5 |
139,798,899 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02111:Tmem184a
|
APN |
5 |
139,798,856 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02483:Tmem184a
|
APN |
5 |
139,798,832 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03352:Tmem184a
|
APN |
5 |
139,798,755 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1488:Tmem184a
|
UTSW |
5 |
139,793,395 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1950:Tmem184a
|
UTSW |
5 |
139,793,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4690:Tmem184a
|
UTSW |
5 |
139,791,377 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4977:Tmem184a
|
UTSW |
5 |
139,793,757 (GRCm39) |
missense |
probably null |
0.57 |
|
R6247:Tmem184a
|
UTSW |
5 |
139,798,827 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6497:Tmem184a
|
UTSW |
5 |
139,798,755 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6515:Tmem184a
|
UTSW |
5 |
139,794,193 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7348:Tmem184a
|
UTSW |
5 |
139,799,809 (GRCm39) |
missense |
probably null |
0.12 |
|
R7742:Tmem184a
|
UTSW |
5 |
139,792,744 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8949:Tmem184a
|
UTSW |
5 |
139,791,311 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9522:Tmem184a
|
UTSW |
5 |
139,791,485 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9691:Tmem184a
|
UTSW |
5 |
139,798,790 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9776:Tmem184a
|
UTSW |
5 |
139,791,984 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGGTTTCACAATGCAGAAC -3'
(R):5'- CCGACTGTATCTGATGGGAGTC -3'
Sequencing Primer
(F):5'- GTTTCACAATGCAGAACTGGAG -3'
(R):5'- ATCTGATGGGAGTCTTGCTTGCAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation