Incidental Mutation 'IGL02311:Dbndd2'
| ID |
287810 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dbndd2
|
| Ensembl Gene |
ENSMUSG00000017734 |
| Gene Name |
dysbindin domain containing 2 |
| Synonyms |
D2Bwg0891e, 1110017A21Rik, NKIP, dysbindin (dystrobrevin binding protein 1) domain containing 2, 2900022J10Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02311
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
164328026-164335239 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 164330622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 92
(S92P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017878]
[ENSMUST00000069385]
[ENSMUST00000109349]
[ENSMUST00000109350]
[ENSMUST00000143690]
[ENSMUST00000149287]
[ENSMUST00000164863]
|
| AlphaFold |
Q9CRD4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000017878
AA Change: S92P
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000017878
Gene: ENSMUSG00000017734
AA Change: S92P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dysbindin
|
1 |
151 |
9.5e-40 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069385
AA Change: S92P
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000064437
Gene: ENSMUSG00000017734
AA Change: S92P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dysbindin
|
1 |
151 |
9.5e-40 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109349
AA Change: S92P
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104973
Gene: ENSMUSG00000017734
AA Change: S92P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dysbindin
|
4 |
141 |
1.1e-33 |
PFAM |
|
low complexity region
|
143 |
156 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109350
AA Change: S92P
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104974
Gene: ENSMUSG00000017734
AA Change: S92P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dysbindin
|
1 |
151 |
9.5e-40 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000143690
AA Change: S92P
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122187
Gene: ENSMUSG00000017734
AA Change: S92P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dysbindin
|
1 |
119 |
5.3e-39 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149287
AA Change: S92P
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128551
Gene: ENSMUSG00000017734
AA Change: S92P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dysbindin
|
1 |
151 |
9.5e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164863
|
| SMART Domains |
Protein: ENSMUSP00000126658
Gene: ENSMUSG00000090996
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SYS1
|
5 |
78 |
6.7e-22 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500035N22Rik |
C |
A |
5: 25,202,705 (GRCm39) |
|
probably benign |
Het |
| Adam21 |
T |
G |
12: 81,607,666 (GRCm39) |
D32A |
probably benign |
Het |
| Asns |
A |
G |
6: 7,676,233 (GRCm39) |
|
probably null |
Het |
| Bin3 |
A |
T |
14: 70,361,666 (GRCm39) |
M45L |
probably benign |
Het |
| Cfap44 |
A |
T |
16: 44,225,134 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,227,163 (GRCm39) |
T2642A |
probably benign |
Het |
| Dclre1b |
A |
C |
3: 103,715,409 (GRCm39) |
F30V |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,755,624 (GRCm39) |
D200G |
probably damaging |
Het |
| Epb41l4b |
C |
A |
4: 57,076,456 (GRCm39) |
R335L |
probably damaging |
Het |
| Fscn1 |
T |
C |
5: 142,957,765 (GRCm39) |
V304A |
probably benign |
Het |
| Gm7008 |
G |
A |
12: 40,273,385 (GRCm39) |
|
probably benign |
Het |
| Gm8237 |
A |
G |
14: 5,864,425 (GRCm38) |
|
probably null |
Het |
| Ifih1 |
T |
C |
2: 62,440,847 (GRCm39) |
T440A |
probably damaging |
Het |
| Mepe |
C |
T |
5: 104,485,571 (GRCm39) |
S237F |
probably damaging |
Het |
| Nr4a2 |
T |
C |
2: 57,001,743 (GRCm39) |
I174V |
probably benign |
Het |
| Or2ag2 |
A |
G |
7: 106,485,101 (GRCm39) |
Y308H |
probably benign |
Het |
| Or8c11 |
C |
T |
9: 38,289,194 (GRCm39) |
Q6* |
probably null |
Het |
| Orc1 |
G |
T |
4: 108,457,171 (GRCm39) |
V404L |
probably benign |
Het |
| Pcsk5 |
G |
T |
19: 17,410,784 (GRCm39) |
Y1869* |
probably null |
Het |
| Phf21b |
A |
G |
15: 84,678,095 (GRCm39) |
|
probably null |
Het |
| Pigg |
A |
G |
5: 108,484,246 (GRCm39) |
T631A |
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,930,190 (GRCm39) |
N349D |
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,316,637 (GRCm39) |
S976G |
probably benign |
Het |
| Scn8a |
G |
T |
15: 100,911,164 (GRCm39) |
M861I |
probably damaging |
Het |
| Stau1 |
T |
C |
2: 166,792,239 (GRCm39) |
N433S |
probably damaging |
Het |
| Synrg |
A |
G |
11: 83,910,630 (GRCm39) |
K854R |
probably benign |
Het |
| Tbata |
T |
A |
10: 61,015,234 (GRCm39) |
C150* |
probably null |
Het |
| Tcn2 |
G |
A |
11: 3,867,692 (GRCm39) |
P417S |
probably damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
| Tpr |
G |
T |
1: 150,274,404 (GRCm39) |
D104Y |
probably damaging |
Het |
| Ubash3b |
T |
C |
9: 40,958,333 (GRCm39) |
T16A |
probably benign |
Het |
| Uso1 |
T |
A |
5: 92,335,635 (GRCm39) |
S548T |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,709,660 (GRCm39) |
V1869E |
probably benign |
Het |
| Vps18 |
T |
C |
2: 119,120,732 (GRCm39) |
C64R |
probably benign |
Het |
| Zic2 |
C |
A |
14: 122,713,606 (GRCm39) |
N173K |
probably damaging |
Het |
|
| Other mutations in Dbndd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0834:Dbndd2
|
UTSW |
2 |
164,332,122 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1897:Dbndd2
|
UTSW |
2 |
164,330,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2030:Dbndd2
|
UTSW |
2 |
164,330,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3015:Dbndd2
|
UTSW |
2 |
164,330,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4881:Dbndd2
|
UTSW |
2 |
164,332,225 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5073:Dbndd2
|
UTSW |
2 |
164,332,224 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5455:Dbndd2
|
UTSW |
2 |
164,332,113 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6143:Dbndd2
|
UTSW |
2 |
164,330,206 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7558:Dbndd2
|
UTSW |
2 |
164,332,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8677:Dbndd2
|
UTSW |
2 |
164,330,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9249:Dbndd2
|
UTSW |
2 |
164,328,077 (GRCm39) |
intron |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation