Incidental Mutation 'R0265:Inpp4a'
ID |
34818 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inpp4a
|
Ensembl Gene |
ENSMUSG00000026113 |
Gene Name |
inositol polyphosphate-4-phosphatase, type I |
Synonyms |
107kDa |
MMRRC Submission |
038491-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.209)
|
Stock # |
R0265 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
37338946-37449817 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 37418067 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 498
(D498V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123071
(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 damaging
Transcript: ENSMUST00000027287
AA Change: D504V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000027287 Gene: ENSMUSG00000026113 AA Change: D504V
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 damaging
Transcript: ENSMUST00000058307
AA Change: D239V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000057233 Gene: ENSMUSG00000026113 AA Change: D239V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
651 |
673 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114933
AA Change: D239V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000110583 Gene: ENSMUSG00000026113 AA Change: D239V
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 damaging
Transcript: ENSMUST00000132401
AA Change: D498V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123071 Gene: ENSMUSG00000026113 AA Change: D498V
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 |
possibly damaging
Transcript: ENSMUST00000132615
AA Change: D503V
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000115249 Gene: ENSMUSG00000026113 AA Change: D503V
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 damaging
Transcript: ENSMUST00000136846
AA Change: D503V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000121518 Gene: ENSMUSG00000026113 AA Change: D503V
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 damaging
Transcript: ENSMUST00000137266
AA Change: D503V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000121803 Gene: ENSMUSG00000026113 AA Change: D503V
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 damaging
Transcript: ENSMUST00000168546
AA Change: D239V
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000130443 Gene: ENSMUSG00000026113 AA Change: D239V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
651 |
673 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000140264
AA Change: D498V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000121107 Gene: ENSMUSG00000026113 AA Change: D498V
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 |
|
Meta Mutation Damage Score |
0.1157 |
Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.4%
- 10x: 95.6%
- 20x: 92.0%
|
Validation Efficiency |
99% (83/84) |
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
G |
7: 119,822,850 (GRCm39) |
I321V |
probably benign |
Het |
Adcy7 |
A |
G |
8: 89,051,391 (GRCm39) |
D837G |
probably damaging |
Het |
Aldh1a1 |
T |
A |
19: 20,617,440 (GRCm39) |
Y457* |
probably null |
Het |
Alox5 |
T |
C |
6: 116,397,323 (GRCm39) |
Y287C |
probably benign |
Het |
Ano8 |
T |
C |
8: 71,933,168 (GRCm39) |
|
probably benign |
Het |
Ap3b1 |
A |
G |
13: 94,630,189 (GRCm39) |
K815E |
unknown |
Het |
Atp11a |
A |
T |
8: 12,906,930 (GRCm39) |
|
probably benign |
Het |
Atp6v0a1 |
A |
T |
11: 100,939,341 (GRCm39) |
D702V |
possibly damaging |
Het |
Cacna1b |
T |
A |
2: 24,651,856 (GRCm39) |
N108Y |
probably damaging |
Het |
Ccdc57 |
G |
C |
11: 120,812,637 (GRCm39) |
A39G |
probably benign |
Het |
Cdhr1 |
A |
T |
14: 36,803,333 (GRCm39) |
V581D |
probably benign |
Het |
Cfap20dc |
T |
G |
14: 8,431,667 (GRCm38) |
Y655S |
probably damaging |
Het |
Cyp2b23 |
A |
G |
7: 26,372,304 (GRCm39) |
|
probably benign |
Het |
D430041D05Rik |
G |
C |
2: 103,998,295 (GRCm39) |
P1836R |
probably damaging |
Het |
Ddit4l |
C |
T |
3: 137,330,048 (GRCm39) |
|
probably benign |
Het |
Dnah8 |
A |
T |
17: 30,909,245 (GRCm39) |
I1024F |
probably benign |
Het |
Dync2i1 |
T |
C |
12: 116,221,026 (GRCm39) |
|
probably benign |
Het |
Edc3 |
T |
A |
9: 57,634,621 (GRCm39) |
F213I |
probably damaging |
Het |
Edrf1 |
G |
A |
7: 133,258,774 (GRCm39) |
D717N |
probably damaging |
Het |
Efna5 |
G |
A |
17: 62,958,068 (GRCm39) |
P63S |
probably damaging |
Het |
Elapor2 |
T |
C |
5: 9,484,681 (GRCm39) |
L486P |
probably damaging |
Het |
Entpd3 |
A |
G |
9: 120,387,547 (GRCm39) |
Y248C |
probably damaging |
Het |
Flcn |
G |
A |
11: 59,686,635 (GRCm39) |
Q373* |
probably null |
Het |
Fry |
T |
C |
5: 150,358,241 (GRCm39) |
V1908A |
probably damaging |
Het |
Gabrg3 |
A |
T |
7: 57,031,365 (GRCm39) |
Y58* |
probably null |
Het |
Gabrp |
A |
T |
11: 33,502,614 (GRCm39) |
Y417N |
probably damaging |
Het |
Golga2 |
C |
A |
2: 32,194,964 (GRCm39) |
|
probably null |
Het |
Grip2 |
C |
A |
6: 91,750,773 (GRCm39) |
|
probably null |
Het |
Gsx2 |
A |
G |
5: 75,237,729 (GRCm39) |
Y227C |
probably damaging |
Het |
H2ac1 |
T |
C |
13: 24,118,632 (GRCm39) |
V63A |
probably benign |
Het |
Hif3a |
T |
C |
7: 16,769,793 (GRCm39) |
*665W |
probably null |
Het |
Hsd3b1 |
C |
A |
3: 98,760,089 (GRCm39) |
V301L |
probably damaging |
Het |
Ifitm5 |
T |
C |
7: 140,529,921 (GRCm39) |
|
probably benign |
Het |
Itga1 |
A |
T |
13: 115,128,995 (GRCm39) |
D554E |
probably benign |
Het |
Itk |
G |
A |
11: 46,280,285 (GRCm39) |
|
probably benign |
Het |
Kdm3b |
T |
A |
18: 34,928,716 (GRCm39) |
|
probably benign |
Het |
Klhl6 |
A |
G |
16: 19,766,984 (GRCm39) |
V470A |
probably benign |
Het |
Lamb3 |
T |
A |
1: 193,002,839 (GRCm39) |
W95R |
probably damaging |
Het |
Lbhd2 |
T |
A |
12: 111,376,676 (GRCm39) |
I41N |
probably damaging |
Het |
Lrp4 |
A |
T |
2: 91,321,015 (GRCm39) |
S1014C |
probably damaging |
Het |
Ltbp2 |
C |
T |
12: 84,832,743 (GRCm39) |
|
probably null |
Het |
Map3k19 |
A |
G |
1: 127,749,919 (GRCm39) |
I1144T |
possibly damaging |
Het |
Mfsd10 |
T |
C |
5: 34,792,507 (GRCm39) |
|
probably benign |
Het |
Mocos |
A |
G |
18: 24,799,333 (GRCm39) |
D189G |
probably benign |
Het |
Mvb12a |
T |
A |
8: 71,999,654 (GRCm39) |
F224L |
probably damaging |
Het |
Myo15a |
A |
T |
11: 60,405,723 (GRCm39) |
|
probably null |
Het |
Nos2 |
A |
T |
11: 78,828,428 (GRCm39) |
H249L |
probably damaging |
Het |
Notum |
A |
G |
11: 120,549,160 (GRCm39) |
M184T |
probably benign |
Het |
Nvl |
C |
A |
1: 180,962,395 (GRCm39) |
D192Y |
probably damaging |
Het |
Or10j3 |
A |
G |
1: 173,031,484 (GRCm39) |
K187R |
probably benign |
Het |
Or4f57 |
T |
C |
2: 111,790,839 (GRCm39) |
Y193C |
probably damaging |
Het |
Or5ac22 |
A |
T |
16: 59,135,434 (GRCm39) |
F112Y |
probably damaging |
Het |
Or5m12 |
T |
A |
2: 85,734,591 (GRCm39) |
N269I |
probably benign |
Het |
Or8k27 |
C |
A |
2: 86,276,303 (GRCm39) |
V8L |
probably benign |
Het |
Osgin1 |
A |
G |
8: 120,172,396 (GRCm39) |
I397V |
possibly damaging |
Het |
Otulin |
A |
G |
15: 27,616,510 (GRCm39) |
V123A |
probably damaging |
Het |
P4ha1 |
A |
G |
10: 59,184,081 (GRCm39) |
Y181C |
probably damaging |
Het |
Pcdhgc5 |
A |
T |
18: 37,954,403 (GRCm39) |
D559V |
probably damaging |
Het |
Phf2 |
T |
C |
13: 48,982,270 (GRCm39) |
N151S |
unknown |
Het |
Plxnc1 |
C |
A |
10: 94,648,991 (GRCm39) |
G1263C |
probably benign |
Het |
Rad51ap1 |
A |
G |
6: 126,901,160 (GRCm39) |
*338Q |
probably null |
Het |
Raver1 |
A |
G |
9: 20,986,955 (GRCm39) |
S676P |
probably benign |
Het |
Rfx8 |
T |
C |
1: 39,727,737 (GRCm39) |
E196G |
possibly damaging |
Het |
Rreb1 |
A |
T |
13: 38,100,131 (GRCm39) |
K187* |
probably null |
Het |
Rxfp1 |
T |
C |
3: 79,574,961 (GRCm39) |
T217A |
probably benign |
Het |
Rxra |
T |
C |
2: 27,642,442 (GRCm39) |
L305P |
probably damaging |
Het |
Sardh |
T |
C |
2: 27,117,078 (GRCm39) |
|
probably benign |
Het |
Skor2 |
A |
T |
18: 76,964,293 (GRCm39) |
E952D |
probably damaging |
Het |
Slc22a29 |
A |
T |
19: 8,147,334 (GRCm39) |
S343T |
probably benign |
Het |
Sorbs2 |
T |
C |
8: 46,238,374 (GRCm39) |
|
probably benign |
Het |
Supt7l |
C |
T |
5: 31,673,262 (GRCm39) |
V329I |
probably benign |
Het |
Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
Tac1 |
T |
C |
6: 7,559,165 (GRCm39) |
|
probably benign |
Het |
Tcn2 |
A |
T |
11: 3,872,044 (GRCm39) |
V361D |
probably damaging |
Het |
Tm2d3 |
G |
A |
7: 65,347,582 (GRCm39) |
A170T |
possibly damaging |
Het |
Tnks |
G |
A |
8: 35,307,124 (GRCm39) |
R1142* |
probably null |
Het |
Ttll7 |
C |
A |
3: 146,649,915 (GRCm39) |
Y648* |
probably null |
Het |
Umod |
G |
T |
7: 119,065,296 (GRCm39) |
Q578K |
probably benign |
Het |
Upf2 |
G |
A |
2: 6,032,015 (GRCm39) |
|
probably benign |
Het |
Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
Washc5 |
A |
G |
15: 59,210,809 (GRCm39) |
I1013T |
probably benign |
Het |
Zfp704 |
C |
A |
3: 9,630,217 (GRCm39) |
R48L |
probably damaging |
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 |
IGL02622:Inpp4a
|
APN |
1 |
37,418,115 (GRCm39) |
missense |
probably benign |
0.26 |
stultified
|
UTSW |
1 |
37,426,911 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTGAGATTGTCCCATGTTGCC -3'
(R):5'- TGGAGCTTGCTAACAAAGGAGCTG -3'
Sequencing Primer
(F):5'- TCTTAGCAGGCTGCATGGAAC -3'
(R):5'- CAAAGGAGCTGGCACTCTG -3'
|
Posted On |
2013-05-09 |