Incidental Mutation 'R3402:Tmem74'
ID |
259240 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem74
|
Ensembl Gene |
ENSMUSG00000054409 |
Gene Name |
transmembrane protein 74 |
Synonyms |
B230382K22Rik |
MMRRC Submission |
040621-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3402 (G1)
|
Quality Score |
225 |
Status
|
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: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
97% (30/31) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts3 |
A |
T |
5: 89,849,592 (GRCm39) |
F609L |
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,691,661 (GRCm39) |
N1642S |
probably damaging |
Het |
Afdn |
C |
T |
17: 14,104,176 (GRCm39) |
R1156C |
probably damaging |
Het |
Ark2c |
A |
G |
18: 77,652,782 (GRCm39) |
V6A |
probably benign |
Het |
Cactin |
G |
A |
10: 81,161,709 (GRCm39) |
R747H |
probably benign |
Het |
Col12a1 |
T |
C |
9: 79,551,229 (GRCm39) |
E2129G |
probably damaging |
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 |
Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
Etl4 |
A |
T |
2: 20,786,693 (GRCm39) |
H763L |
probably damaging |
Het |
Hip1r |
A |
G |
5: 124,135,046 (GRCm39) |
E394G |
probably damaging |
Het |
Ift25 |
A |
G |
4: 107,130,803 (GRCm39) |
|
probably null |
Het |
Kat2b |
C |
T |
17: 53,972,881 (GRCm39) |
P732S |
probably damaging |
Het |
Myo16 |
A |
G |
8: 10,434,719 (GRCm39) |
N387S |
probably benign |
Het |
Nlrp4d |
A |
T |
7: 10,096,781 (GRCm39) |
N906K |
probably damaging |
Het |
Or1ad6 |
A |
G |
11: 50,859,895 (GRCm39) |
I17V |
probably benign |
Het |
Or5b120 |
G |
A |
19: 13,480,312 (GRCm39) |
A202T |
probably benign |
Het |
Pkn1 |
G |
A |
8: 84,396,859 (GRCm39) |
R926W |
probably damaging |
Het |
Ppp1r37 |
C |
T |
7: 19,266,712 (GRCm39) |
A392T |
probably damaging |
Het |
Prkcq |
A |
G |
2: 11,288,660 (GRCm39) |
T538A |
possibly damaging |
Het |
Sel1l2 |
T |
A |
2: 140,082,958 (GRCm39) |
Y560F |
probably damaging |
Het |
Slc6a6 |
A |
G |
6: 91,703,110 (GRCm39) |
H161R |
probably benign |
Het |
Slit2 |
T |
C |
5: 48,440,763 (GRCm39) |
Y1212H |
probably damaging |
Het |
Stk3 |
G |
T |
15: 34,945,144 (GRCm39) |
|
probably benign |
Het |
Tcaf3 |
T |
C |
6: 42,570,787 (GRCm39) |
S322G |
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 |
Zfp180 |
G |
A |
7: 23,805,170 (GRCm39) |
V530I |
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 |
R3403: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'- GCAAATCTATTTCGACGATAGAGC -3'
(R):5'- AGTCAGAGGTCACCATCAGC -3'
Sequencing Primer
(F):5'- ATTTCGACGATAGAGCTCTCC -3'
(R):5'- GGCAGTAATCACCCTGTAGATCTG -3'
|
Posted On |
2015-01-23 |