Incidental Mutation 'IGL00571:Nacc2'
ID |
7258 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nacc2
|
Ensembl Gene |
ENSMUSG00000026932 |
Gene Name |
nucleus accumbens associated 2, BEN and BTB (POZ) domain containing |
Synonyms |
0610020I02Rik, Btbd14a, C030048H19Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00571
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
25945547-26012823 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 25979702 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 245
(T245A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109796
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028300]
[ENSMUST00000114159]
[ENSMUST00000140993]
|
AlphaFold |
Q9DCM7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028300
AA Change: T245A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000028300 Gene: ENSMUSG00000026932 AA Change: T245A
Domain | Start | End | E-Value | Type |
BTB
|
30 |
124 |
8.41e-23 |
SMART |
low complexity region
|
198 |
213 |
N/A |
INTRINSIC |
low complexity region
|
264 |
271 |
N/A |
INTRINSIC |
BEN
|
371 |
449 |
4.33e-15 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114159
AA Change: T245A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000109796 Gene: ENSMUSG00000026932 AA Change: T245A
Domain | Start | End | E-Value | Type |
BTB
|
30 |
124 |
8.41e-23 |
SMART |
low complexity region
|
198 |
213 |
N/A |
INTRINSIC |
low complexity region
|
264 |
271 |
N/A |
INTRINSIC |
BEN
|
371 |
449 |
4.33e-15 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128674
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133212
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140993
|
SMART Domains |
Protein: ENSMUSP00000120198 Gene: ENSMUSG00000026932
Domain | Start | End | E-Value | Type |
Pfam:BTB
|
20 |
85 |
1.3e-16 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149408
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152133
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abr |
T |
G |
11: 76,359,566 (GRCm39) |
S180R |
probably benign |
Het |
Atrn |
G |
T |
2: 130,836,968 (GRCm39) |
R1144L |
probably damaging |
Het |
Dsc1 |
G |
T |
18: 20,243,195 (GRCm39) |
S86Y |
probably damaging |
Het |
Ets2 |
C |
A |
16: 95,513,185 (GRCm39) |
N120K |
probably benign |
Het |
Fas |
A |
T |
19: 34,296,018 (GRCm39) |
T154S |
probably damaging |
Het |
Fbxo41 |
T |
C |
6: 85,455,084 (GRCm39) |
|
probably null |
Het |
Fzd8 |
A |
T |
18: 9,213,068 (GRCm39) |
Y50F |
unknown |
Het |
Hmcn1 |
C |
T |
1: 150,514,750 (GRCm39) |
V3541I |
probably benign |
Het |
Il6st |
G |
A |
13: 112,624,394 (GRCm39) |
V215M |
probably damaging |
Het |
Kif13b |
G |
A |
14: 64,983,866 (GRCm39) |
V581M |
probably damaging |
Het |
Liph |
A |
G |
16: 21,786,890 (GRCm39) |
F242S |
probably damaging |
Het |
Nlrp1b |
C |
T |
11: 71,054,799 (GRCm39) |
D889N |
probably null |
Het |
Parp4 |
T |
A |
14: 56,884,810 (GRCm39) |
S1296R |
unknown |
Het |
Prr23a4 |
A |
C |
9: 98,785,739 (GRCm39) |
T135P |
possibly damaging |
Het |
Sec24a |
G |
A |
11: 51,627,331 (GRCm39) |
Q194* |
probably null |
Het |
Slco6c1 |
T |
C |
1: 97,015,676 (GRCm39) |
N372D |
probably benign |
Het |
Sprr2a3 |
T |
A |
3: 92,196,074 (GRCm39) |
Y60* |
probably null |
Het |
Tdrd6 |
T |
A |
17: 43,939,051 (GRCm39) |
I666F |
probably damaging |
Het |
Tlr1 |
T |
C |
5: 65,083,777 (GRCm39) |
I267V |
probably benign |
Het |
Tmtc2 |
A |
G |
10: 105,157,307 (GRCm39) |
I633T |
possibly damaging |
Het |
Ttc33 |
A |
G |
15: 5,246,809 (GRCm39) |
D205G |
probably damaging |
Het |
Uspl1 |
A |
G |
5: 149,125,170 (GRCm39) |
K26E |
probably damaging |
Het |
Zfp639 |
A |
G |
3: 32,574,068 (GRCm39) |
D231G |
probably damaging |
Het |
|
Other mutations in Nacc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00906:Nacc2
|
APN |
2 |
25,951,678 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02122:Nacc2
|
APN |
2 |
25,979,960 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02836:Nacc2
|
APN |
2 |
25,980,329 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03355:Nacc2
|
APN |
2 |
25,952,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R0239:Nacc2
|
UTSW |
2 |
25,952,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R0239:Nacc2
|
UTSW |
2 |
25,952,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R0326:Nacc2
|
UTSW |
2 |
25,950,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R0553:Nacc2
|
UTSW |
2 |
25,979,602 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1743:Nacc2
|
UTSW |
2 |
25,950,155 (GRCm39) |
missense |
probably benign |
|
R2172:Nacc2
|
UTSW |
2 |
25,950,235 (GRCm39) |
missense |
probably benign |
0.00 |
R2497:Nacc2
|
UTSW |
2 |
25,979,580 (GRCm39) |
nonsense |
probably null |
|
R4027:Nacc2
|
UTSW |
2 |
25,950,348 (GRCm39) |
missense |
probably benign |
0.11 |
R4724:Nacc2
|
UTSW |
2 |
25,980,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R5045:Nacc2
|
UTSW |
2 |
25,980,150 (GRCm39) |
splice site |
probably null |
|
R5151:Nacc2
|
UTSW |
2 |
25,980,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R5198:Nacc2
|
UTSW |
2 |
25,950,346 (GRCm39) |
missense |
probably benign |
0.22 |
R5905:Nacc2
|
UTSW |
2 |
25,951,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R6028:Nacc2
|
UTSW |
2 |
25,951,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R6257:Nacc2
|
UTSW |
2 |
25,950,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R6924:Nacc2
|
UTSW |
2 |
25,980,041 (GRCm39) |
missense |
probably damaging |
0.97 |
R8263:Nacc2
|
UTSW |
2 |
25,952,240 (GRCm39) |
missense |
probably damaging |
0.99 |
R8936:Nacc2
|
UTSW |
2 |
25,952,216 (GRCm39) |
missense |
probably benign |
0.16 |
R9035:Nacc2
|
UTSW |
2 |
25,951,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R9200:Nacc2
|
UTSW |
2 |
25,980,118 (GRCm39) |
missense |
probably damaging |
0.98 |
R9395:Nacc2
|
UTSW |
2 |
25,950,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-04-20 |