Incidental Mutation 'R1191:Vps9d1'
| ID |
100811 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps9d1
|
| Ensembl Gene |
ENSMUSG00000001062 |
| Gene Name |
VPS9 domain containing 1 |
| Synonyms |
2410004N05Rik, 1300018I17Rik |
| MMRRC Submission |
039263-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1191 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
123969095-123980961 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 123974706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 249
(H249Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117643]
[ENSMUST00000118279]
[ENSMUST00000122363]
[ENSMUST00000127664]
[ENSMUST00000155869]
|
| AlphaFold |
Q8C190 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117643
AA Change: H249Q
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113748
Gene: ENSMUSG00000001062
AA Change: H249Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
108 |
N/A |
INTRINSIC |
|
coiled coil region
|
187 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
266 |
279 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
453 |
N/A |
INTRINSIC |
|
Pfam:VPS9
|
528 |
645 |
8.5e-27 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118279
AA Change: H249Q
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113634
Gene: ENSMUSG00000001062
AA Change: H249Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
108 |
N/A |
INTRINSIC |
|
coiled coil region
|
187 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
266 |
279 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
453 |
N/A |
INTRINSIC |
|
Pfam:VPS9
|
528 |
645 |
1.2e-25 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122363
AA Change: H249Q
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113575
Gene: ENSMUSG00000001062
AA Change: H249Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
108 |
N/A |
INTRINSIC |
|
coiled coil region
|
187 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
266 |
279 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
453 |
N/A |
INTRINSIC |
|
Pfam:VPS9
|
528 |
644 |
5.6e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124508
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127978
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129591
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146136
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155869
|
| SMART Domains |
Protein: ENSMUSP00000122184
Gene: ENSMUSG00000001062
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
108 |
N/A |
INTRINSIC |
|
coiled coil region
|
187 |
223 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130275
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149490
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155853
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130965
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137569
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.3%
- 10x: 95.1%
- 20x: 87.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd27 |
T |
C |
7: 35,301,912 (GRCm39) |
F144L |
probably damaging |
Het |
| C8b |
C |
T |
4: 104,650,520 (GRCm39) |
P377S |
probably damaging |
Het |
| Cfi |
C |
A |
3: 129,662,176 (GRCm39) |
T385N |
probably benign |
Het |
| Col15a1 |
G |
T |
4: 47,254,083 (GRCm39) |
G300* |
probably null |
Het |
| Crlf1 |
G |
A |
8: 70,951,478 (GRCm39) |
C119Y |
probably damaging |
Het |
| Dcaf4 |
A |
T |
12: 83,582,741 (GRCm39) |
S279C |
probably damaging |
Het |
| Gde1 |
A |
T |
7: 118,304,664 (GRCm39) |
H70Q |
probably damaging |
Het |
| Gpt2 |
A |
T |
8: 86,235,901 (GRCm39) |
N179I |
probably damaging |
Het |
| Grik5 |
G |
A |
7: 24,757,750 (GRCm39) |
Q410* |
probably null |
Het |
| Hspa2 |
C |
T |
12: 76,452,655 (GRCm39) |
R450W |
probably damaging |
Het |
| Idh3b |
A |
T |
2: 130,123,810 (GRCm39) |
M118K |
probably benign |
Het |
| Ighv5-21 |
T |
C |
12: 114,286,423 (GRCm39) |
|
probably benign |
Het |
| Il12rb2 |
C |
T |
6: 67,275,200 (GRCm39) |
V642M |
possibly damaging |
Het |
| Iqcg |
A |
G |
16: 32,870,313 (GRCm39) |
V60A |
probably benign |
Het |
| Irx6 |
T |
A |
8: 93,403,580 (GRCm39) |
Y102N |
probably damaging |
Het |
| Itgb6 |
C |
T |
2: 60,483,481 (GRCm39) |
|
probably null |
Het |
| Mmp27 |
A |
T |
9: 7,579,067 (GRCm39) |
|
probably null |
Het |
| Or10d5j |
A |
T |
9: 39,868,264 (GRCm39) |
M1K |
probably null |
Het |
| Or1j21 |
T |
A |
2: 36,683,350 (GRCm39) |
M34K |
probably damaging |
Het |
| Or2f2 |
C |
A |
6: 42,767,451 (GRCm39) |
H159Q |
probably benign |
Het |
| Or5k8 |
T |
A |
16: 58,644,922 (GRCm39) |
Y50F |
probably benign |
Het |
| Or8c8 |
G |
T |
9: 38,165,501 (GRCm39) |
V263F |
probably damaging |
Het |
| Pcdhb16 |
A |
G |
18: 37,612,926 (GRCm39) |
R629G |
probably damaging |
Het |
| Pde3b |
A |
T |
7: 114,118,810 (GRCm39) |
M650L |
probably benign |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Skint3 |
T |
A |
4: 112,092,939 (GRCm39) |
M1K |
probably null |
Het |
| Strn |
T |
C |
17: 78,999,855 (GRCm39) |
Q127R |
possibly damaging |
Het |
| Taar2 |
T |
G |
10: 23,816,927 (GRCm39) |
W156G |
probably damaging |
Het |
| Trpt1 |
G |
T |
19: 6,974,138 (GRCm39) |
M45I |
probably benign |
Het |
| Ubap2l |
T |
C |
3: 89,930,882 (GRCm39) |
T357A |
probably damaging |
Het |
| Ubr3 |
C |
T |
2: 69,851,525 (GRCm39) |
R1831* |
probably null |
Het |
| Unc79 |
T |
A |
12: 103,013,271 (GRCm39) |
Y287* |
probably null |
Het |
| Utrn |
T |
A |
10: 12,509,777 (GRCm39) |
K2398N |
probably benign |
Het |
| Vav2 |
A |
T |
2: 27,182,792 (GRCm39) |
|
probably null |
Het |
| Vwf |
T |
A |
6: 125,576,215 (GRCm39) |
C432S |
probably damaging |
Het |
| Zfp369 |
T |
A |
13: 65,439,776 (GRCm39) |
Y153* |
probably null |
Het |
| Zfp760 |
C |
T |
17: 21,942,286 (GRCm39) |
P487L |
probably damaging |
Het |
| Zswim2 |
A |
C |
2: 83,754,039 (GRCm39) |
V207G |
possibly damaging |
Het |
|
| Other mutations in Vps9d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00549:Vps9d1
|
APN |
8 |
123,971,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01112:Vps9d1
|
APN |
8 |
123,972,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01729:Vps9d1
|
APN |
8 |
123,973,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0568:Vps9d1
|
UTSW |
8 |
123,973,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1813:Vps9d1
|
UTSW |
8 |
123,973,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1896:Vps9d1
|
UTSW |
8 |
123,973,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2193:Vps9d1
|
UTSW |
8 |
123,979,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2256:Vps9d1
|
UTSW |
8 |
123,971,860 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4305:Vps9d1
|
UTSW |
8 |
123,974,976 (GRCm39) |
intron |
probably benign |
|
|
R4458:Vps9d1
|
UTSW |
8 |
123,974,487 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4707:Vps9d1
|
UTSW |
8 |
123,975,351 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R5366:Vps9d1
|
UTSW |
8 |
123,971,853 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5392:Vps9d1
|
UTSW |
8 |
123,980,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5423:Vps9d1
|
UTSW |
8 |
123,974,704 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5645:Vps9d1
|
UTSW |
8 |
123,974,487 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5647:Vps9d1
|
UTSW |
8 |
123,975,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5695:Vps9d1
|
UTSW |
8 |
123,973,655 (GRCm39) |
missense |
probably benign |
|
|
R5908:Vps9d1
|
UTSW |
8 |
123,973,563 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6061:Vps9d1
|
UTSW |
8 |
123,972,410 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6250:Vps9d1
|
UTSW |
8 |
123,974,947 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6416:Vps9d1
|
UTSW |
8 |
123,975,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6747:Vps9d1
|
UTSW |
8 |
123,980,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7049:Vps9d1
|
UTSW |
8 |
123,973,882 (GRCm39) |
nonsense |
probably null |
|
|
R7584:Vps9d1
|
UTSW |
8 |
123,977,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8321:Vps9d1
|
UTSW |
8 |
123,975,544 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9178:Vps9d1
|
UTSW |
8 |
123,975,574 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9218:Vps9d1
|
UTSW |
8 |
123,977,674 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9366:Vps9d1
|
UTSW |
8 |
123,974,486 (GRCm39) |
nonsense |
probably null |
|
|
R9542:Vps9d1
|
UTSW |
8 |
123,970,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGGAGTGAATACCTGAGCAAGTG -3'
(R):5'- GAAGGCAGAGGCAGCCTTACATAC -3'
Sequencing Primer
(F):5'- GTCACTAGCGACAGGTCTC -3'
(R):5'- AGACACTACTGGCCCCTTG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation