Incidental Mutation 'IGL03197:Anp32e'
| ID |
412863 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Anp32e
|
| Ensembl Gene |
ENSMUSG00000015749 |
| Gene Name |
acidic nuclear phosphoprotein 32 family member E |
| Synonyms |
LANP-L, CPD1, 2810018A15Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03197
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
95836557-95854699 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95844364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 71
(D71G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015893]
[ENSMUST00000165307]
[ENSMUST00000167876]
[ENSMUST00000168106]
[ENSMUST00000169426]
[ENSMUST00000170125]
[ENSMUST00000170213]
[ENSMUST00000171035]
[ENSMUST00000171368]
|
| AlphaFold |
P97822 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015893
AA Change: D119G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000015893
Gene: ENSMUSG00000015749
AA Change: D119G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_8
|
64 |
125 |
5.2e-11 |
PFAM |
|
Pfam:LRR_6
|
87 |
111 |
4.6e-6 |
PFAM |
|
Pfam:LRR_7
|
88 |
104 |
5.6e-4 |
PFAM |
|
Pfam:LRR_1
|
89 |
112 |
4e-4 |
PFAM |
|
LRRcap
|
128 |
146 |
1.59e-2 |
SMART |
|
low complexity region
|
157 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
248 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165307
AA Change: D119G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128483
Gene: ENSMUSG00000015749
AA Change: D119G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_8
|
64 |
125 |
1.8e-9 |
PFAM |
|
LRRcap
|
128 |
146 |
1.59e-2 |
SMART |
|
low complexity region
|
151 |
209 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
240 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
260 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167876
AA Change: D71G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132580
Gene: ENSMUSG00000015749
AA Change: D71G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_8
|
16 |
77 |
7.4e-11 |
PFAM |
|
Pfam:LRR_6
|
39 |
63 |
9.8e-6 |
PFAM |
|
Pfam:LRR_7
|
40 |
56 |
1.5e-3 |
PFAM |
|
Pfam:LRR_1
|
41 |
64 |
9.1e-4 |
PFAM |
|
LRRcap
|
80 |
98 |
1.59e-2 |
SMART |
|
low complexity region
|
103 |
161 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168106
AA Change: D78G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132357
Gene: ENSMUSG00000015749
AA Change: D78G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
75 |
N/A |
INTRINSIC |
|
LRRcap
|
87 |
105 |
1.59e-2 |
SMART |
|
low complexity region
|
110 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
175 |
199 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
219 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169426
|
| SMART Domains |
Protein: ENSMUSP00000142810
Gene: ENSMUSG00000015749
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
51 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170125
|
| SMART Domains |
Protein: ENSMUSP00000129931
Gene: ENSMUSG00000015749
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2JQD|A
|
1 |
58 |
6e-17 |
PDB |
|
low complexity region
|
68 |
109 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170213
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171035
AA Change: D71G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128298
Gene: ENSMUSG00000015749
AA Change: D71G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_8
|
16 |
77 |
2.2e-11 |
PFAM |
|
Pfam:LRR_6
|
39 |
63 |
3.4e-6 |
PFAM |
|
Pfam:LRR_7
|
40 |
56 |
4.8e-4 |
PFAM |
|
Pfam:LRR_1
|
41 |
64 |
2.9e-4 |
PFAM |
|
LRRcap
|
80 |
98 |
1.59e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196705
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171368
|
| SMART Domains |
Protein: ENSMUSP00000130599
Gene: ENSMUSG00000015749
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
137 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit mild neurological deficits. Mice homozygous for a knock-out allele are phenotypically normal. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(28) : Targeted, other(2) Gene trapped(26) |
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
A |
G |
8: 117,698,541 (GRCm39) |
W189R |
probably damaging |
Het |
| Abcb7 |
A |
T |
X: 103,327,797 (GRCm39) |
M704K |
possibly damaging |
Het |
| Asphd1 |
T |
C |
7: 126,545,298 (GRCm39) |
D353G |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,731,898 (GRCm39) |
K2047E |
possibly damaging |
Het |
| Cyp2c39 |
G |
T |
19: 39,555,361 (GRCm39) |
V394F |
probably damaging |
Het |
| Ddx43 |
G |
A |
9: 78,325,402 (GRCm39) |
M482I |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,350,089 (GRCm39) |
V2348E |
probably damaging |
Het |
| Fam135a |
A |
G |
1: 24,083,263 (GRCm39) |
F304L |
probably damaging |
Het |
| Gabra3 |
A |
G |
X: 71,583,734 (GRCm39) |
I66T |
possibly damaging |
Het |
| Irf4 |
A |
T |
13: 30,947,503 (GRCm39) |
|
probably benign |
Het |
| Kif11 |
A |
G |
19: 37,395,475 (GRCm39) |
D578G |
probably benign |
Het |
| Lrig1 |
A |
G |
6: 94,583,099 (GRCm39) |
S1006P |
probably benign |
Het |
| Mfsd14a |
A |
C |
3: 116,430,012 (GRCm39) |
S307A |
probably benign |
Het |
| Mill1 |
A |
G |
7: 17,998,590 (GRCm39) |
T267A |
probably benign |
Het |
| Nfyc |
C |
A |
4: 120,630,958 (GRCm39) |
D62Y |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,073,584 (GRCm39) |
T1190A |
probably benign |
Het |
| Nup42 |
T |
C |
5: 24,372,463 (GRCm39) |
S84P |
probably damaging |
Het |
| Ociad1 |
T |
C |
5: 73,451,675 (GRCm39) |
S15P |
probably benign |
Het |
| Or4c104 |
A |
T |
2: 88,586,545 (GRCm39) |
I158K |
probably damaging |
Het |
| Or6c69c |
A |
T |
10: 129,910,548 (GRCm39) |
I90F |
probably damaging |
Het |
| Or7g25 |
A |
G |
9: 19,160,098 (GRCm39) |
I199T |
probably benign |
Het |
| Pcdhb11 |
T |
A |
18: 37,555,477 (GRCm39) |
L269* |
probably null |
Het |
| Pigo |
A |
C |
4: 43,022,103 (GRCm39) |
M352R |
possibly damaging |
Het |
| Plch1 |
T |
C |
3: 63,660,591 (GRCm39) |
M343V |
probably damaging |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Prkag1 |
A |
G |
15: 98,713,058 (GRCm39) |
|
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,130,866 (GRCm39) |
K379R |
probably damaging |
Het |
| Rraga |
G |
A |
4: 86,494,513 (GRCm39) |
A120T |
probably damaging |
Het |
| Serpina3a |
C |
T |
12: 104,082,500 (GRCm39) |
A91V |
probably damaging |
Het |
| Sik2 |
T |
C |
9: 50,807,073 (GRCm39) |
E779G |
probably damaging |
Het |
| Slc15a3 |
T |
G |
19: 10,832,443 (GRCm39) |
|
probably null |
Het |
| Smc1b |
C |
T |
15: 84,955,064 (GRCm39) |
D1063N |
possibly damaging |
Het |
| Speer1e |
T |
G |
5: 11,233,080 (GRCm39) |
N14K |
probably damaging |
Het |
| Speer1k |
T |
A |
5: 11,000,501 (GRCm39) |
|
probably benign |
Het |
| Srsf12 |
G |
A |
4: 33,231,040 (GRCm39) |
G183E |
probably damaging |
Het |
| Taf8 |
A |
G |
17: 47,809,127 (GRCm39) |
S112P |
probably benign |
Het |
| Trhde |
A |
G |
10: 114,249,213 (GRCm39) |
L851P |
probably benign |
Het |
| Wapl |
G |
T |
14: 34,467,588 (GRCm39) |
V1182F |
possibly damaging |
Het |
| Zfp326 |
A |
G |
5: 106,039,059 (GRCm39) |
I231V |
probably benign |
Het |
|
| Other mutations in Anp32e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02719:Anp32e
|
APN |
3 |
95,845,224 (GRCm39) |
unclassified |
probably benign |
|
|
3-1:Anp32e
|
UTSW |
3 |
95,852,551 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0926:Anp32e
|
UTSW |
3 |
95,844,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3821:Anp32e
|
UTSW |
3 |
95,842,181 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3822:Anp32e
|
UTSW |
3 |
95,842,181 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6645:Anp32e
|
UTSW |
3 |
95,844,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8193:Anp32e
|
UTSW |
3 |
95,836,710 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation