Incidental Mutation 'R3822:Anp32e'
ID |
275217 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Anp32e
|
Ensembl Gene |
ENSMUSG00000015749 |
Gene Name |
acidic nuclear phosphoprotein 32 family member E |
Synonyms |
LANP-L, CPD1, 2810018A15Rik |
MMRRC Submission |
040884-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3822 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
95836557-95854699 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 95842181 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 100
(I100L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128483
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015893]
[ENSMUST00000165307]
[ENSMUST00000167876]
[ENSMUST00000168106]
[ENSMUST00000169426]
[ENSMUST00000170125]
[ENSMUST00000171035]
[ENSMUST00000170213]
[ENSMUST00000171368]
|
AlphaFold |
P97822 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000015893
AA Change: I100L
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000015893 Gene: ENSMUSG00000015749 AA Change: I100L
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 benign
Transcript: ENSMUST00000165307
AA Change: I100L
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000128483 Gene: ENSMUSG00000015749 AA Change: I100L
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 benign
Transcript: ENSMUST00000167876
AA Change: I52L
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000132580 Gene: ENSMUSG00000015749 AA Change: I52L
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 benign
Transcript: ENSMUST00000168106
|
SMART Domains |
Protein: ENSMUSP00000132357 Gene: ENSMUSG00000015749
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: ENSMUST00000171035
AA Change: I52L
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000128298 Gene: ENSMUSG00000015749 AA Change: I52L
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 |
probably benign
Transcript: ENSMUST00000170213
|
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 |
|
Meta Mutation Damage Score |
0.2017 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
100% (34/34) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aarsd1 |
T |
A |
11: 101,301,971 (GRCm39) |
I332F |
probably damaging |
Het |
Acp3 |
G |
T |
9: 104,201,916 (GRCm39) |
Q76K |
probably damaging |
Het |
Ccdc13 |
C |
A |
9: 121,660,085 (GRCm39) |
L76F |
probably damaging |
Het |
Cd44 |
T |
C |
2: 102,731,738 (GRCm39) |
|
probably null |
Het |
Chka |
A |
G |
19: 3,932,038 (GRCm39) |
|
probably benign |
Het |
Cnot6 |
A |
T |
11: 49,579,999 (GRCm39) |
S98T |
probably benign |
Het |
Cth |
A |
G |
3: 157,624,136 (GRCm39) |
F127S |
probably benign |
Het |
Dnah9 |
C |
A |
11: 65,741,829 (GRCm39) |
|
probably null |
Het |
Dysf |
T |
C |
6: 84,184,070 (GRCm39) |
|
probably benign |
Het |
Flad1 |
T |
A |
3: 89,318,494 (GRCm39) |
I20F |
probably damaging |
Het |
Gm20730 |
C |
T |
6: 43,058,656 (GRCm39) |
S52N |
probably benign |
Het |
Gpr89 |
A |
G |
3: 96,800,260 (GRCm39) |
S113P |
probably benign |
Het |
Herpud2 |
G |
A |
9: 25,036,220 (GRCm39) |
Q147* |
probably null |
Het |
Hivep1 |
A |
T |
13: 42,337,787 (GRCm39) |
H2622L |
possibly damaging |
Het |
Hlcs |
T |
C |
16: 94,068,840 (GRCm39) |
N274D |
probably benign |
Het |
Ido2 |
T |
C |
8: 25,023,771 (GRCm39) |
I356V |
probably benign |
Het |
Insyn2b |
T |
C |
11: 34,353,007 (GRCm39) |
S350P |
probably benign |
Het |
Itgam |
A |
G |
7: 127,711,458 (GRCm39) |
|
probably null |
Het |
Lama1 |
C |
A |
17: 68,086,041 (GRCm39) |
|
probably null |
Het |
Lrrc4b |
T |
A |
7: 44,111,982 (GRCm39) |
V618E |
probably damaging |
Het |
Man1a2 |
A |
G |
3: 100,539,913 (GRCm39) |
I176T |
possibly damaging |
Het |
Mns1 |
A |
G |
9: 72,346,730 (GRCm39) |
E71G |
probably damaging |
Het |
Ncoa6 |
T |
A |
2: 155,248,858 (GRCm39) |
N1482I |
probably damaging |
Het |
Neto2 |
C |
A |
8: 86,389,924 (GRCm39) |
E180* |
probably null |
Het |
Psmb7 |
A |
T |
2: 38,503,440 (GRCm39) |
|
probably benign |
Het |
Rin2 |
C |
T |
2: 145,664,550 (GRCm39) |
T60M |
probably benign |
Het |
Slc28a3 |
A |
G |
13: 58,706,092 (GRCm39) |
V639A |
probably benign |
Het |
Tenm2 |
A |
T |
11: 35,915,147 (GRCm39) |
I2129N |
probably damaging |
Het |
Topaz1 |
A |
G |
9: 122,626,848 (GRCm39) |
D1492G |
possibly damaging |
Het |
Trank1 |
G |
A |
9: 111,207,887 (GRCm39) |
G1711R |
probably damaging |
Het |
Trpm1 |
A |
G |
7: 63,867,451 (GRCm39) |
|
probably benign |
Het |
Ugt1a6a |
T |
A |
1: 88,066,251 (GRCm39) |
V19E |
probably benign |
Het |
Vmn2r60 |
A |
T |
7: 41,785,125 (GRCm39) |
E112D |
probably damaging |
Het |
Wdr4 |
T |
G |
17: 31,731,195 (GRCm39) |
Q55P |
probably damaging |
Het |
Xpnpep1 |
G |
A |
19: 52,992,250 (GRCm39) |
|
probably benign |
Het |
Zfyve16 |
A |
T |
13: 92,657,769 (GRCm39) |
L714Q |
probably damaging |
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 |
|
IGL03197:Anp32e
|
APN |
3 |
95,844,364 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGAGCCATGCCACAGATAAG -3'
(R):5'- AGCCCAGCTGGACAGTTTAG -3'
Sequencing Primer
(F):5'- TGCCACAGATAAGCCACTG -3'
(R):5'- CCCAGCTGGACAGTTTAGTTAAAG -3'
|
Posted On |
2015-04-02 |