Incidental Mutation 'IGL01799:Anp32a'
| ID |
155453 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Anp32a
|
| Ensembl Gene |
ENSMUSG00000032249 |
| Gene Name |
acidic nuclear phosphoprotein 32 family member A |
| Synonyms |
pp32, Anp32 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01799
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
62248637-62286084 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62279092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 35
(T35A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122165
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085519]
[ENSMUST00000128636]
[ENSMUST00000135395]
|
| AlphaFold |
O35381 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085519
AA Change: T49A
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000082652
Gene: ENSMUSG00000032249
AA Change: T49A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_4
|
64 |
107 |
5.2e-9 |
PFAM |
|
Pfam:LRR_8
|
64 |
125 |
1.9e-9 |
PFAM |
|
LRRcap
|
128 |
146 |
3.19e-2 |
SMART |
|
coiled coil region
|
167 |
199 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126451
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128636
AA Change: T52A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000123574
Gene: ENSMUSG00000032249
AA Change: T52A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_8
|
67 |
128 |
3.1e-10 |
PFAM |
|
Pfam:LRR_4
|
77 |
111 |
3e-8 |
PFAM |
|
Pfam:LRR_6
|
90 |
110 |
7.2e-6 |
PFAM |
|
Pfam:LRR_7
|
91 |
107 |
9.5e-4 |
PFAM |
|
Pfam:LRR_1
|
92 |
115 |
1.7e-4 |
PFAM |
|
LRRcap
|
131 |
149 |
3.19e-2 |
SMART |
|
coiled coil region
|
170 |
198 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129026
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135395
AA Change: T35A
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000122165
Gene: ENSMUSG00000032249
AA Change: T35A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_8
|
50 |
111 |
4.9e-10 |
PFAM |
|
Pfam:LRR_6
|
73 |
93 |
9e-6 |
PFAM |
|
Pfam:LRR_7
|
74 |
90 |
1.2e-3 |
PFAM |
|
Pfam:LRR_1
|
75 |
98 |
2.2e-4 |
PFAM |
|
LRRcap
|
114 |
132 |
3.19e-2 |
SMART |
|
coiled coil region
|
153 |
185 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136603
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138226
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000156461
AA Change: T44A
|
| SMART Domains |
Protein: ENSMUSP00000115293
Gene: ENSMUSG00000032249
AA Change: T44A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_9
|
5 |
138 |
8e-13 |
PFAM |
|
Pfam:LRR_4
|
60 |
104 |
9.7e-10 |
PFAM |
|
Pfam:LRR_8
|
60 |
121 |
8.6e-10 |
PFAM |
|
Pfam:LRR_4
|
84 |
129 |
2.8e-9 |
PFAM |
|
Pfam:LRR_1
|
85 |
106 |
1.4e-3 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141277
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145679
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice are viable, fertile, behaviorally normal, and show no defects of the central nervous system. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
T |
A |
13: 4,564,257 (GRCm39) |
|
probably null |
Het |
| Dennd1a |
A |
G |
2: 37,938,754 (GRCm39) |
Y119H |
probably damaging |
Het |
| Evc |
T |
C |
5: 37,482,258 (GRCm39) |
I32V |
possibly damaging |
Het |
| Fbll1 |
A |
C |
11: 35,688,936 (GRCm39) |
V109G |
possibly damaging |
Het |
| Gli3 |
T |
C |
13: 15,900,746 (GRCm39) |
S1378P |
probably benign |
Het |
| Hcfc2 |
G |
A |
10: 82,536,825 (GRCm39) |
C79Y |
probably damaging |
Het |
| Hdac5 |
A |
T |
11: 102,090,911 (GRCm39) |
I741N |
possibly damaging |
Het |
| Heatr5a |
T |
C |
12: 51,944,618 (GRCm39) |
D1289G |
probably benign |
Het |
| Hyal5 |
T |
A |
6: 24,891,336 (GRCm39) |
N383K |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,645,770 (GRCm39) |
L59P |
probably damaging |
Het |
| Lrrc8b |
T |
A |
5: 105,633,757 (GRCm39) |
L743Q |
probably benign |
Het |
| Micos10 |
G |
T |
4: 138,831,308 (GRCm39) |
|
probably benign |
Het |
| Mks1 |
A |
T |
11: 87,747,689 (GRCm39) |
I191F |
probably benign |
Het |
| Mrc1 |
T |
A |
2: 14,243,187 (GRCm39) |
N104K |
probably damaging |
Het |
| Ms4a6d |
A |
T |
19: 11,567,499 (GRCm39) |
I26N |
probably damaging |
Het |
| Mup17 |
T |
C |
4: 61,511,948 (GRCm39) |
T109A |
probably benign |
Het |
| Mylk4 |
T |
G |
13: 32,965,674 (GRCm39) |
E9A |
probably benign |
Het |
| Myo7b |
C |
T |
18: 32,095,823 (GRCm39) |
V1812M |
probably damaging |
Het |
| Nbas |
T |
C |
12: 13,374,401 (GRCm39) |
|
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,222,599 (GRCm39) |
|
probably benign |
Het |
| Nlrp4f |
T |
C |
13: 65,335,276 (GRCm39) |
H771R |
probably benign |
Het |
| Opa1 |
T |
C |
16: 29,435,476 (GRCm39) |
V642A |
possibly damaging |
Het |
| Or9g3 |
T |
A |
2: 85,589,986 (GRCm39) |
I245F |
probably benign |
Het |
| Pate12 |
T |
C |
9: 36,344,179 (GRCm39) |
L54P |
possibly damaging |
Het |
| Pi4ka |
C |
A |
16: 17,207,235 (GRCm39) |
L23F |
probably damaging |
Het |
| Rerg |
T |
A |
6: 137,033,376 (GRCm39) |
K100* |
probably null |
Het |
| Sema6c |
T |
C |
3: 95,078,142 (GRCm39) |
V506A |
probably damaging |
Het |
| Slc15a1 |
T |
G |
14: 121,718,141 (GRCm39) |
N246T |
possibly damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,218,647 (GRCm39) |
|
probably null |
Het |
| Vmn2r118 |
A |
G |
17: 55,899,990 (GRCm39) |
L638P |
probably damaging |
Het |
| Vmn2r80 |
G |
A |
10: 79,007,385 (GRCm39) |
G454S |
possibly damaging |
Het |
|
| Other mutations in Anp32a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00655:Anp32a
|
APN |
9 |
62,278,994 (GRCm39) |
splice site |
probably benign |
|
|
IGL02066:Anp32a
|
APN |
9 |
62,284,615 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02536:Anp32a
|
APN |
9 |
62,279,110 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1608:Anp32a
|
UTSW |
9 |
62,279,375 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2149:Anp32a
|
UTSW |
9 |
62,279,084 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5287:Anp32a
|
UTSW |
9 |
62,249,275 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5381:Anp32a
|
UTSW |
9 |
62,279,459 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5403:Anp32a
|
UTSW |
9 |
62,249,275 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5427:Anp32a
|
UTSW |
9 |
62,284,598 (GRCm39) |
unclassified |
probably benign |
|
|
R6856:Anp32a
|
UTSW |
9 |
62,279,397 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6906:Anp32a
|
UTSW |
9 |
62,284,851 (GRCm39) |
unclassified |
probably benign |
|
|
R7949:Anp32a
|
UTSW |
9 |
62,280,948 (GRCm39) |
missense |
unknown |
|
|
R8134:Anp32a
|
UTSW |
9 |
62,284,863 (GRCm39) |
missense |
unknown |
|
|
R9501:Anp32a
|
UTSW |
9 |
62,282,019 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation