Incidental Mutation 'R4305:Vps9d1'
| ID |
324000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps9d1
|
| Ensembl Gene |
ENSMUSG00000001062 |
| Gene Name |
VPS9 domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
041091-MU
|
| Accession Numbers |
|
| Is this an essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4305 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
123242356-123254348 bp(-) (GRCm38) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to T
at 123248237 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122184
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117643]
[ENSMUST00000118279]
[ENSMUST00000122363]
[ENSMUST00000127664]
[ENSMUST00000155869]
|
| AlphaFold |
Q8C190 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117643
|
| SMART Domains |
Protein: ENSMUSP00000113748
Gene: ENSMUSG00000001062
| 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 |
probably benign
Transcript: ENSMUST00000118279
|
| SMART Domains |
Protein: ENSMUSP00000113634
Gene: ENSMUSG00000001062
| 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 |
probably benign
Transcript: ENSMUST00000122363
|
| SMART Domains |
Protein: ENSMUSP00000113575
Gene: ENSMUSG00000001062
| 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: ENSMUST00000130275
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130965
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137569
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146136
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149490
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155853
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
92% (36/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
C |
A |
1: 11,972,076 |
S440* |
probably null |
Het |
| Abl2 |
T |
A |
1: 156,641,563 |
M695K |
probably damaging |
Het |
| Asap2 |
T |
C |
12: 21,229,481 |
I426T |
probably damaging |
Het |
| Atxn7l1 |
T |
C |
12: 33,341,992 |
M93T |
probably damaging |
Het |
| Ccr5 |
T |
C |
9: 124,125,074 |
L238P |
possibly damaging |
Het |
| Cd27 |
A |
G |
6: 125,234,670 |
V98A |
probably benign |
Het |
| Chrdl2 |
A |
G |
7: 100,022,022 |
T116A |
probably damaging |
Het |
| Epha6 |
T |
C |
16: 60,526,520 |
|
probably null |
Het |
| Fam71f1 |
A |
G |
6: 29,326,612 |
S243G |
probably damaging |
Het |
| Gart |
T |
C |
16: 91,633,992 |
E394G |
possibly damaging |
Het |
| Gm5155 |
T |
A |
7: 17,905,193 |
Y372N |
probably benign |
Het |
| Gm7173 |
C |
G |
X: 79,498,029 |
K469N |
probably damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,850,378 |
|
probably benign |
Het |
| Lpar6 |
G |
A |
14: 73,238,941 |
R114Q |
probably damaging |
Het |
| Med23 |
G |
T |
10: 24,904,270 |
E573* |
probably null |
Het |
| Mtch2 |
A |
G |
2: 90,859,483 |
I183V |
probably benign |
Het |
| Nlrp3 |
C |
T |
11: 59,548,010 |
R138* |
probably null |
Het |
| Notch1 |
T |
C |
2: 26,477,924 |
D657G |
probably damaging |
Het |
| Olfr1281 |
A |
G |
2: 111,329,298 |
D293G |
probably null |
Het |
| Rbm20 |
A |
G |
19: 53,843,260 |
S642G |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 100,933,415 |
A487S |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,918,337 |
S4123G |
probably benign |
Het |
| Ugt3a1 |
A |
C |
15: 9,306,274 |
S170R |
possibly damaging |
Het |
| Vmn2r71 |
G |
T |
7: 85,624,152 |
D725Y |
probably damaging |
Het |
| Yeats2 |
A |
G |
16: 20,208,422 |
T808A |
probably damaging |
Het |
| Zdhhc4 |
C |
T |
5: 143,324,344 |
|
probably benign |
Het |
|
| Other mutations in Vps9d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00549:Vps9d1
|
APN |
8 |
123245198 |
missense |
probably damaging |
1.00 |
|
IGL01112:Vps9d1
|
APN |
8 |
123246030 |
missense |
probably damaging |
1.00 |
|
IGL01729:Vps9d1
|
APN |
8 |
123247000 |
missense |
probably damaging |
1.00 |
|
R0568:Vps9d1
|
UTSW |
8 |
123246748 |
missense |
probably damaging |
1.00 |
|
R1191:Vps9d1
|
UTSW |
8 |
123247967 |
missense |
possibly damaging |
0.95 |
|
R1813:Vps9d1
|
UTSW |
8 |
123247039 |
missense |
probably damaging |
0.99 |
|
R1896:Vps9d1
|
UTSW |
8 |
123247039 |
missense |
probably damaging |
0.99 |
|
R2193:Vps9d1
|
UTSW |
8 |
123252665 |
missense |
probably damaging |
1.00 |
|
R2256:Vps9d1
|
UTSW |
8 |
123245121 |
missense |
probably benign |
0.18 |
|
R4458:Vps9d1
|
UTSW |
8 |
123247748 |
missense |
probably benign |
0.30 |
|
R4707:Vps9d1
|
UTSW |
8 |
123248612 |
critical splice donor site |
probably benign |
|
|
R5366:Vps9d1
|
UTSW |
8 |
123245114 |
missense |
possibly damaging |
0.89 |
|
R5392:Vps9d1
|
UTSW |
8 |
123254013 |
missense |
probably damaging |
0.99 |
|
R5423:Vps9d1
|
UTSW |
8 |
123247965 |
critical splice donor site |
probably null |
|
|
R5645:Vps9d1
|
UTSW |
8 |
123247748 |
missense |
probably benign |
0.30 |
|
R5647:Vps9d1
|
UTSW |
8 |
123248859 |
missense |
probably damaging |
1.00 |
|
R5695:Vps9d1
|
UTSW |
8 |
123246916 |
missense |
probably benign |
|
|
R5908:Vps9d1
|
UTSW |
8 |
123246824 |
missense |
probably benign |
0.28 |
|
R6061:Vps9d1
|
UTSW |
8 |
123245671 |
missense |
probably damaging |
0.99 |
|
R6250:Vps9d1
|
UTSW |
8 |
123248208 |
critical splice acceptor site |
probably null |
|
|
R6416:Vps9d1
|
UTSW |
8 |
123248639 |
missense |
probably damaging |
1.00 |
|
R6747:Vps9d1
|
UTSW |
8 |
123254007 |
missense |
probably damaging |
1.00 |
|
R7049:Vps9d1
|
UTSW |
8 |
123247143 |
nonsense |
probably null |
|
|
R7584:Vps9d1
|
UTSW |
8 |
123250717 |
missense |
probably damaging |
1.00 |
|
R8321:Vps9d1
|
UTSW |
8 |
123248805 |
missense |
possibly damaging |
0.47 |
|
R9178:Vps9d1
|
UTSW |
8 |
123248835 |
missense |
probably damaging |
0.97 |
|
R9218:Vps9d1
|
UTSW |
8 |
123250935 |
missense |
probably benign |
0.12 |
|
R9366:Vps9d1
|
UTSW |
8 |
123247747 |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCAACTTGACTGCAGAACC -3'
(R):5'- AGCACTAATTAGGTGCTCTCTACC -3'
Sequencing Primer
(F):5'- TTGACTGCAGAACCTCCTGAG -3'
(R):5'- CTTCAAGTCTGCCTTCCTGAGTAAAG -3'
|
| Posted On |
2015-06-24 |
