Incidental Mutation 'R3403:Tmem74'
| ID |
259260 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem74
|
| Ensembl Gene |
ENSMUSG00000054409 |
| Gene Name |
transmembrane protein 74 |
| Synonyms |
B230382K22Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3403 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
43728042-43733432 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 43730417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 209
(V209M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070748
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067469]
|
| AlphaFold |
Q8BQU7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067469
AA Change: V209M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000070748
Gene: ENSMUSG00000054409
AA Change: V209M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
71 |
N/A |
INTRINSIC |
|
Pfam:Neurensin
|
147 |
269 |
1.1e-12 |
PFAM |
|
| Meta Mutation Damage Score |
0.6884 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
T |
C |
1: 78,673,839 (GRCm39) |
V333A |
probably damaging |
Het |
| Afdn |
C |
T |
17: 14,104,176 (GRCm39) |
R1156C |
probably damaging |
Het |
| Asic3 |
A |
G |
5: 24,621,985 (GRCm39) |
E415G |
probably damaging |
Het |
| Cactin |
G |
A |
10: 81,161,709 (GRCm39) |
R747H |
probably benign |
Het |
| Calcr |
T |
A |
6: 3,687,604 (GRCm39) |
I465F |
probably benign |
Het |
| Dennd4c |
C |
T |
4: 86,692,780 (GRCm39) |
P97S |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,566,879 (GRCm39) |
V2449A |
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,403,407 (GRCm39) |
N189D |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Ndrg3 |
C |
T |
2: 156,790,208 (GRCm39) |
V92M |
probably damaging |
Het |
| Or5ac20 |
G |
C |
16: 59,104,475 (GRCm39) |
N128K |
probably benign |
Het |
| Pacs2 |
T |
C |
12: 113,014,570 (GRCm39) |
S214P |
probably damaging |
Het |
| Rad51 |
T |
A |
2: 118,951,025 (GRCm39) |
|
probably benign |
Het |
| Rtn4 |
T |
C |
11: 29,657,690 (GRCm39) |
S499P |
probably benign |
Het |
| Slc6a6 |
A |
G |
6: 91,703,110 (GRCm39) |
H161R |
probably benign |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Unc80 |
A |
T |
1: 66,549,845 (GRCm39) |
E701V |
probably damaging |
Het |
| Upk3a |
T |
C |
15: 84,902,384 (GRCm39) |
|
probably null |
Het |
| Zhx1 |
T |
C |
15: 57,917,745 (GRCm39) |
E167G |
probably benign |
Het |
|
| Other mutations in Tmem74 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01873:Tmem74
|
APN |
15 |
43,730,782 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01985:Tmem74
|
APN |
15 |
43,730,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1102:Tmem74
|
UTSW |
15 |
43,730,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1782:Tmem74
|
UTSW |
15 |
43,730,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1851:Tmem74
|
UTSW |
15 |
43,730,559 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1852:Tmem74
|
UTSW |
15 |
43,730,559 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2352:Tmem74
|
UTSW |
15 |
43,730,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3401:Tmem74
|
UTSW |
15 |
43,730,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3402:Tmem74
|
UTSW |
15 |
43,730,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4095:Tmem74
|
UTSW |
15 |
43,730,678 (GRCm39) |
nonsense |
probably null |
|
|
R4607:Tmem74
|
UTSW |
15 |
43,730,554 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4608:Tmem74
|
UTSW |
15 |
43,730,554 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5218:Tmem74
|
UTSW |
15 |
43,730,640 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5304:Tmem74
|
UTSW |
15 |
43,730,217 (GRCm39) |
nonsense |
probably null |
|
|
R5375:Tmem74
|
UTSW |
15 |
43,730,564 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6074:Tmem74
|
UTSW |
15 |
43,730,134 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7264:Tmem74
|
UTSW |
15 |
43,730,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7485:Tmem74
|
UTSW |
15 |
43,730,761 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7909:Tmem74
|
UTSW |
15 |
43,730,795 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8366:Tmem74
|
UTSW |
15 |
43,730,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8389:Tmem74
|
UTSW |
15 |
43,730,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8732:Tmem74
|
UTSW |
15 |
43,731,456 (GRCm39) |
splice site |
probably benign |
|
|
R8855:Tmem74
|
UTSW |
15 |
43,730,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8866:Tmem74
|
UTSW |
15 |
43,730,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCAAATCTATTTCGACGATAGAG -3'
(R):5'- AGGTCACCATCAGCCAAAGG -3'
Sequencing Primer
(F):5'- ATTTCGACGATAGAGCTCTCC -3'
(R):5'- GGCAGTAATCACCCTGTAGATCTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation