Incidental Mutation 'R0750:Vps37d'
| ID |
70277 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps37d
|
| Ensembl Gene |
ENSMUSG00000043614 |
| Gene Name |
vacuolar protein sorting 37D |
| Synonyms |
Wbscr24 |
| MMRRC Submission |
038930-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0750 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
135101754-135107120 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 135103294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 116
(L116Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063762
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067935]
[ENSMUST00000076203]
|
| AlphaFold |
Q810I0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067935
AA Change: L116Q
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000063762
Gene: ENSMUSG00000043614
AA Change: L116Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
18 |
N/A |
INTRINSIC |
|
Pfam:Mod_r
|
21 |
165 |
8.1e-35 |
PFAM |
|
low complexity region
|
181 |
195 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
226 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076203
|
| SMART Domains |
Protein: ENSMUSP00000075559
Gene: ENSMUSG00000043614
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
18 |
N/A |
INTRINSIC |
|
Pfam:Mod_r
|
46 |
83 |
1.2e-10 |
PFAM |
|
low complexity region
|
96 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
141 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
T |
4: 156,251,394 (GRCm39) |
L1974* |
probably null |
Het |
| Brd4 |
T |
C |
17: 32,439,226 (GRCm39) |
E418G |
probably benign |
Het |
| Brip1 |
G |
A |
11: 85,952,325 (GRCm39) |
S1152L |
possibly damaging |
Het |
| Btrc |
T |
G |
19: 45,491,585 (GRCm39) |
F81C |
probably damaging |
Het |
| Cep85l |
A |
G |
10: 53,157,642 (GRCm39) |
L585P |
probably damaging |
Het |
| Cfap46 |
T |
G |
7: 139,234,586 (GRCm39) |
E671D |
probably damaging |
Het |
| Dsg1a |
T |
C |
18: 20,473,210 (GRCm39) |
L761P |
probably benign |
Het |
| Ece2 |
G |
T |
16: 20,451,800 (GRCm39) |
V396L |
probably benign |
Het |
| Garin4 |
G |
A |
1: 190,896,682 (GRCm39) |
|
probably benign |
Het |
| Hs6st3 |
CGGAGGAGGAGGAGGAGGA |
CGGAGGAGGAGGAGGA |
14: 119,376,119 (GRCm39) |
|
probably benign |
Het |
| Id2 |
A |
G |
12: 25,145,670 (GRCm39) |
S114P |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 67,861,839 (GRCm39) |
F1133S |
probably damaging |
Het |
| Izumo1 |
T |
C |
7: 45,275,707 (GRCm39) |
|
probably null |
Het |
| Krt35 |
A |
G |
11: 99,986,979 (GRCm39) |
S12P |
possibly damaging |
Het |
| Or5a1 |
T |
C |
19: 12,098,077 (GRCm39) |
|
probably null |
Het |
| Pkdrej |
G |
T |
15: 85,702,275 (GRCm39) |
D1220E |
probably benign |
Het |
| Pramel32 |
A |
G |
4: 88,545,905 (GRCm39) |
F479S |
probably benign |
Het |
| Sema3a |
G |
A |
5: 13,607,092 (GRCm39) |
|
probably null |
Het |
| Tmed6 |
T |
C |
8: 107,788,401 (GRCm39) |
Y182C |
possibly damaging |
Het |
| Tmem174 |
G |
T |
13: 98,773,787 (GRCm39) |
N14K |
probably damaging |
Het |
| Tmem87b |
T |
C |
2: 128,660,356 (GRCm39) |
L33P |
possibly damaging |
Het |
| Vmn1r16 |
T |
C |
6: 57,299,812 (GRCm39) |
Y270C |
probably benign |
Het |
| Zfp592 |
A |
G |
7: 80,674,493 (GRCm39) |
S486G |
probably benign |
Het |
|
| Other mutations in Vps37d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0463:Vps37d
|
UTSW |
5 |
135,105,395 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1832:Vps37d
|
UTSW |
5 |
135,102,594 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2046:Vps37d
|
UTSW |
5 |
135,102,831 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3813:Vps37d
|
UTSW |
5 |
135,103,304 (GRCm39) |
nonsense |
probably null |
|
|
R3974:Vps37d
|
UTSW |
5 |
135,105,393 (GRCm39) |
missense |
probably null |
0.11 |
|
R5537:Vps37d
|
UTSW |
5 |
135,103,256 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8678:Vps37d
|
UTSW |
5 |
135,105,386 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8848:Vps37d
|
UTSW |
5 |
135,102,519 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0020:Vps37d
|
UTSW |
5 |
135,106,960 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Vps37d
|
UTSW |
5 |
135,102,603 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGGGCCTTACTACTCAGCCGAC -3'
(R):5'- TGATGGCGATGATGGCAGTGAC -3'
Sequencing Primer
(F):5'- TAGGACAGCAAACTCTGCCG -3'
(R):5'- gcattcaagttctcacgcc -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation