Incidental Mutation 'IGL02622:Inpp4a'
ID |
300901 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Inpp4a
|
Ensembl Gene |
ENSMUSG00000026113 |
Gene Name |
inositol polyphosphate-4-phosphatase, type I |
Synonyms |
107kDa |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.231)
|
Stock # |
IGL02622
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
37338946-37449817 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 37418115 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 519
(Q519L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121803
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027287]
[ENSMUST00000058307]
[ENSMUST00000114933]
[ENSMUST00000132401]
[ENSMUST00000132615]
[ENSMUST00000136846]
[ENSMUST00000137266]
[ENSMUST00000168546]
[ENSMUST00000140264]
[ENSMUST00000193774]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027287
AA Change: Q520L
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000027287 Gene: ENSMUSG00000026113 AA Change: Q520L
Domain | Start | End | E-Value | Type |
Blast:C2
|
49 |
142 |
1e-57 |
BLAST |
SCOP:d1bdya_
|
50 |
168 |
7e-5 |
SMART |
low complexity region
|
565 |
590 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000058307
AA Change: Q255L
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000057233 Gene: ENSMUSG00000026113 AA Change: Q255L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
651 |
673 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114933
AA Change: Q255L
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000110583 Gene: ENSMUSG00000026113 AA Change: Q255L
Domain | Start | End | E-Value | Type |
low complexity region
|
300 |
325 |
N/A |
INTRINSIC |
transmembrane domain
|
662 |
684 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123124
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132401
AA Change: Q514L
PolyPhen 2
Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000123071 Gene: ENSMUSG00000026113 AA Change: Q514L
Domain | Start | End | E-Value | Type |
Blast:C2
|
49 |
142 |
1e-57 |
BLAST |
SCOP:d1bdya_
|
50 |
168 |
6e-5 |
SMART |
low complexity region
|
602 |
623 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132615
AA Change: Q519L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000115249 Gene: ENSMUSG00000026113 AA Change: Q519L
Domain | Start | End | E-Value | Type |
Blast:C2
|
49 |
142 |
1e-57 |
BLAST |
SCOP:d1bdya_
|
50 |
168 |
7e-5 |
SMART |
low complexity region
|
565 |
590 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136846
AA Change: Q519L
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000121518 Gene: ENSMUSG00000026113 AA Change: Q519L
Domain | Start | End | E-Value | Type |
Blast:C2
|
49 |
142 |
9e-58 |
BLAST |
SCOP:d1bdya_
|
50 |
168 |
7e-5 |
SMART |
low complexity region
|
559 |
584 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137266
AA Change: Q519L
PolyPhen 2
Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000121803 Gene: ENSMUSG00000026113 AA Change: Q519L
Domain | Start | End | E-Value | Type |
Blast:C2
|
49 |
142 |
1e-57 |
BLAST |
SCOP:d1bdya_
|
50 |
168 |
6e-5 |
SMART |
low complexity region
|
377 |
391 |
N/A |
INTRINSIC |
low complexity region
|
607 |
628 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168546
AA Change: Q255L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000130443 Gene: ENSMUSG00000026113 AA Change: Q255L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
651 |
673 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140264
AA Change: Q514L
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000121107 Gene: ENSMUSG00000026113 AA Change: Q514L
Domain | Start | End | E-Value | Type |
Blast:C2
|
49 |
142 |
7e-58 |
BLAST |
SCOP:d1bdya_
|
50 |
168 |
7e-5 |
SMART |
low complexity region
|
377 |
391 |
N/A |
INTRINSIC |
low complexity region
|
564 |
589 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193774
|
SMART Domains |
Protein: ENSMUSP00000142118 Gene: ENSMUSG00000026113
Domain | Start | End | E-Value | Type |
Blast:C2
|
45 |
87 |
7e-13 |
BLAST |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an Mg++ independent enzyme that hydrolyzes the 4-position phosphate from the inositol ring of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate, and inositol 3,4-bisphosphate. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2008] PHENOTYPE: Homozygotes for a spontaneous mutation exhibit small size, ataxia, loss of cerebellar and hippocampal CA1 neurons, and death by 24 days of age from seizures and/or malnutrition. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
C |
T |
5: 109,887,101 (GRCm39) |
V32M |
possibly damaging |
Het |
Abca1 |
T |
C |
4: 53,034,046 (GRCm39) |
D2228G |
probably damaging |
Het |
Actr5 |
A |
G |
2: 158,480,728 (GRCm39) |
K582R |
probably benign |
Het |
Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
Atp7b |
T |
C |
8: 22,518,454 (GRCm39) |
D128G |
possibly damaging |
Het |
Cemip |
C |
A |
7: 83,613,383 (GRCm39) |
G605V |
probably damaging |
Het |
Cep112 |
A |
G |
11: 108,409,509 (GRCm39) |
H133R |
probably benign |
Het |
Cops3 |
C |
T |
11: 59,723,864 (GRCm39) |
D98N |
probably benign |
Het |
Crlf3 |
T |
C |
11: 79,950,150 (GRCm39) |
D160G |
probably damaging |
Het |
Csn1s1 |
T |
C |
5: 87,825,501 (GRCm39) |
|
probably null |
Het |
Ddx60 |
C |
A |
8: 62,395,470 (GRCm39) |
|
probably null |
Het |
Depdc1a |
T |
A |
3: 159,221,147 (GRCm39) |
N159K |
probably benign |
Het |
Dsg3 |
A |
T |
18: 20,662,004 (GRCm39) |
|
probably benign |
Het |
Eif4g3 |
A |
C |
4: 137,824,677 (GRCm39) |
|
probably benign |
Het |
Ercc6l2 |
T |
A |
13: 64,001,437 (GRCm39) |
|
probably null |
Het |
Fbxw19 |
T |
A |
9: 109,322,602 (GRCm39) |
M123L |
probably benign |
Het |
Fus |
T |
A |
7: 127,584,794 (GRCm39) |
L100H |
probably damaging |
Het |
Gm29247 |
A |
G |
1: 44,146,269 (GRCm39) |
|
probably benign |
Het |
Gucy2e |
T |
C |
11: 69,115,857 (GRCm39) |
T842A |
probably damaging |
Het |
Kcnip1 |
C |
A |
11: 33,593,290 (GRCm39) |
|
probably benign |
Het |
Lyst |
T |
A |
13: 13,855,975 (GRCm39) |
L2432H |
probably damaging |
Het |
Mastl |
A |
G |
2: 23,022,857 (GRCm39) |
V622A |
probably benign |
Het |
Myh15 |
A |
G |
16: 48,997,317 (GRCm39) |
T1712A |
probably benign |
Het |
Nlrp1a |
T |
C |
11: 71,013,826 (GRCm39) |
T475A |
possibly damaging |
Het |
Nr4a3 |
G |
A |
4: 48,051,649 (GRCm39) |
M134I |
probably benign |
Het |
Or2a56 |
T |
G |
6: 42,932,663 (GRCm39) |
V77G |
probably damaging |
Het |
Or52m1 |
T |
A |
7: 102,290,290 (GRCm39) |
L279Q |
probably damaging |
Het |
Or5p60 |
T |
A |
7: 107,723,595 (GRCm39) |
I292F |
probably damaging |
Het |
Paqr6 |
T |
G |
3: 88,273,085 (GRCm39) |
I52S |
probably damaging |
Het |
Pcdhb4 |
T |
A |
18: 37,442,721 (GRCm39) |
L677Q |
probably benign |
Het |
Phax |
C |
T |
18: 56,717,372 (GRCm39) |
R250* |
probably null |
Het |
Pkn3 |
A |
G |
2: 29,973,158 (GRCm39) |
D356G |
probably benign |
Het |
Pnpla2 |
T |
C |
7: 141,035,285 (GRCm39) |
L29P |
probably damaging |
Het |
Rad18 |
G |
A |
6: 112,664,948 (GRCm39) |
T62I |
probably damaging |
Het |
Riok3 |
C |
T |
18: 12,276,017 (GRCm39) |
R238C |
probably benign |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
Sccpdh |
G |
T |
1: 179,504,025 (GRCm39) |
G125W |
probably damaging |
Het |
Skint11 |
T |
A |
4: 114,051,925 (GRCm39) |
L91H |
probably damaging |
Het |
Slc25a45 |
A |
G |
19: 5,928,725 (GRCm39) |
|
probably benign |
Het |
Slco2a1 |
C |
T |
9: 102,954,128 (GRCm39) |
Q370* |
probably null |
Het |
Szt2 |
A |
G |
4: 118,250,087 (GRCm39) |
S474P |
probably damaging |
Het |
Tchh |
C |
A |
3: 93,350,719 (GRCm39) |
T53K |
probably damaging |
Het |
Tiam1 |
T |
C |
16: 89,595,588 (GRCm39) |
T1298A |
possibly damaging |
Het |
Tmem161a |
C |
T |
8: 70,633,887 (GRCm39) |
Q183* |
probably null |
Het |
Trim26 |
C |
A |
17: 37,161,797 (GRCm39) |
A72E |
probably damaging |
Het |
Trmt11 |
A |
T |
10: 30,435,169 (GRCm39) |
I330K |
probably benign |
Het |
Tspan1 |
A |
G |
4: 116,021,052 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
C |
A |
4: 139,194,561 (GRCm39) |
C4286* |
probably null |
Het |
Unc13a |
T |
C |
8: 72,105,158 (GRCm39) |
|
probably null |
Het |
Vmn1r20 |
T |
A |
6: 57,409,583 (GRCm39) |
F303Y |
probably damaging |
Het |
Washc2 |
T |
C |
6: 116,190,979 (GRCm39) |
|
probably benign |
Het |
Xab2 |
C |
T |
8: 3,661,699 (GRCm39) |
D585N |
probably benign |
Het |
Ythdc2 |
C |
T |
18: 44,993,001 (GRCm39) |
L791F |
probably damaging |
Het |
Zfp319 |
C |
A |
8: 96,055,589 (GRCm39) |
V205F |
probably damaging |
Het |
Zscan25 |
A |
T |
5: 145,227,512 (GRCm39) |
H392L |
probably damaging |
Het |
Zswim6 |
A |
T |
13: 107,884,786 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Inpp4a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01348:Inpp4a
|
APN |
1 |
37,427,986 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01821:Inpp4a
|
APN |
1 |
37,416,798 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02015:Inpp4a
|
APN |
1 |
37,428,793 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02036:Inpp4a
|
APN |
1 |
37,416,650 (GRCm39) |
intron |
probably benign |
|
IGL02040:Inpp4a
|
APN |
1 |
37,435,166 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02082:Inpp4a
|
APN |
1 |
37,405,708 (GRCm39) |
intron |
probably benign |
|
IGL02318:Inpp4a
|
APN |
1 |
37,407,384 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02555:Inpp4a
|
APN |
1 |
37,419,049 (GRCm39) |
missense |
possibly damaging |
0.70 |
stultified
|
UTSW |
1 |
37,426,911 (GRCm39) |
missense |
probably damaging |
0.99 |
R0265:Inpp4a
|
UTSW |
1 |
37,418,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R0388:Inpp4a
|
UTSW |
1 |
37,435,241 (GRCm39) |
missense |
probably damaging |
0.96 |
R0543:Inpp4a
|
UTSW |
1 |
37,408,573 (GRCm39) |
intron |
probably benign |
|
R1269:Inpp4a
|
UTSW |
1 |
37,428,823 (GRCm39) |
missense |
probably benign |
0.01 |
R1719:Inpp4a
|
UTSW |
1 |
37,437,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R1799:Inpp4a
|
UTSW |
1 |
37,432,059 (GRCm39) |
missense |
possibly damaging |
0.56 |
R2127:Inpp4a
|
UTSW |
1 |
37,406,000 (GRCm39) |
missense |
probably benign |
0.08 |
R2143:Inpp4a
|
UTSW |
1 |
37,426,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R2174:Inpp4a
|
UTSW |
1 |
37,435,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R2258:Inpp4a
|
UTSW |
1 |
37,416,777 (GRCm39) |
missense |
probably damaging |
1.00 |
R2327:Inpp4a
|
UTSW |
1 |
37,405,247 (GRCm39) |
missense |
probably damaging |
0.96 |
R2437:Inpp4a
|
UTSW |
1 |
37,432,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R2897:Inpp4a
|
UTSW |
1 |
37,405,675 (GRCm39) |
missense |
probably benign |
0.07 |
R2898:Inpp4a
|
UTSW |
1 |
37,405,675 (GRCm39) |
missense |
probably benign |
0.07 |
R4830:Inpp4a
|
UTSW |
1 |
37,410,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R4934:Inpp4a
|
UTSW |
1 |
37,426,922 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5141:Inpp4a
|
UTSW |
1 |
37,419,168 (GRCm39) |
missense |
probably benign |
0.17 |
R5152:Inpp4a
|
UTSW |
1 |
37,397,616 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5627:Inpp4a
|
UTSW |
1 |
37,406,854 (GRCm39) |
missense |
probably damaging |
0.96 |
R5789:Inpp4a
|
UTSW |
1 |
37,411,410 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6004:Inpp4a
|
UTSW |
1 |
37,411,451 (GRCm39) |
missense |
probably damaging |
0.99 |
R6107:Inpp4a
|
UTSW |
1 |
37,416,829 (GRCm39) |
missense |
probably damaging |
0.98 |
R6180:Inpp4a
|
UTSW |
1 |
37,419,183 (GRCm39) |
missense |
probably benign |
|
R6434:Inpp4a
|
UTSW |
1 |
37,437,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R6571:Inpp4a
|
UTSW |
1 |
37,426,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R6766:Inpp4a
|
UTSW |
1 |
37,411,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R6992:Inpp4a
|
UTSW |
1 |
37,428,772 (GRCm39) |
missense |
probably damaging |
0.98 |
R7025:Inpp4a
|
UTSW |
1 |
37,408,504 (GRCm39) |
missense |
probably benign |
0.00 |
R7126:Inpp4a
|
UTSW |
1 |
37,413,353 (GRCm39) |
missense |
probably benign |
0.00 |
R7473:Inpp4a
|
UTSW |
1 |
37,408,534 (GRCm39) |
missense |
probably benign |
0.37 |
R7509:Inpp4a
|
UTSW |
1 |
37,426,911 (GRCm39) |
missense |
probably damaging |
0.99 |
R7654:Inpp4a
|
UTSW |
1 |
37,413,179 (GRCm39) |
splice site |
probably null |
|
R7920:Inpp4a
|
UTSW |
1 |
37,406,886 (GRCm39) |
missense |
probably benign |
0.08 |
R8273:Inpp4a
|
UTSW |
1 |
37,407,520 (GRCm39) |
intron |
probably benign |
|
R8739:Inpp4a
|
UTSW |
1 |
37,422,207 (GRCm39) |
intron |
probably benign |
|
R9158:Inpp4a
|
UTSW |
1 |
37,442,552 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9281:Inpp4a
|
UTSW |
1 |
37,410,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R9678:Inpp4a
|
UTSW |
1 |
37,405,952 (GRCm39) |
missense |
probably damaging |
0.97 |
RF006:Inpp4a
|
UTSW |
1 |
37,427,908 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
Posted On |
2015-04-16 |