Incidental Mutation 'R8273:Inpp4a'
ID |
656462 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inpp4a
|
Ensembl Gene |
ENSMUSG00000026113 |
Gene Name |
inositol polyphosphate-4-phosphatase, type I |
Synonyms |
107kDa |
MMRRC Submission |
067696-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.209)
|
Stock # |
R8273 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
37338946-37449817 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 37407520 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142118
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027287]
[ENSMUST00000058307]
[ENSMUST00000114933]
[ENSMUST00000132401]
[ENSMUST00000132615]
[ENSMUST00000136846]
[ENSMUST00000137266]
[ENSMUST00000140264]
[ENSMUST00000168546]
[ENSMUST00000193774]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027287
|
SMART Domains |
Protein: ENSMUSP00000027287 Gene: ENSMUSG00000026113
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
|
SMART Domains |
Protein: ENSMUSP00000057233 Gene: ENSMUSG00000026113
Domain | Start | End | E-Value | Type |
transmembrane domain
|
651 |
673 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114933
|
SMART Domains |
Protein: ENSMUSP00000110583 Gene: ENSMUSG00000026113
Domain | Start | End | E-Value | Type |
low complexity region
|
300 |
325 |
N/A |
INTRINSIC |
transmembrane domain
|
662 |
684 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132401
|
SMART Domains |
Protein: ENSMUSP00000123071 Gene: ENSMUSG00000026113
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
|
SMART Domains |
Protein: ENSMUSP00000115249 Gene: ENSMUSG00000026113
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
|
SMART Domains |
Protein: ENSMUSP00000121518 Gene: ENSMUSG00000026113
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
|
SMART Domains |
Protein: ENSMUSP00000121803 Gene: ENSMUSG00000026113
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: ENSMUST00000140264
|
SMART Domains |
Protein: ENSMUSP00000121107 Gene: ENSMUSG00000026113
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: ENSMUST00000168546
|
SMART Domains |
Protein: ENSMUSP00000130443 Gene: ENSMUSG00000026113
Domain | Start | End | E-Value | Type |
transmembrane domain
|
651 |
673 |
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
98% (62/63) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
G |
A |
3: 137,772,211 (GRCm39) |
V467I |
probably benign |
Het |
Ank1 |
G |
A |
8: 23,575,668 (GRCm39) |
G167E |
probably damaging |
Het |
Ano2 |
G |
A |
6: 125,959,683 (GRCm39) |
V648M |
probably damaging |
Het |
Ap3b2 |
A |
G |
7: 81,112,990 (GRCm39) |
C954R |
unknown |
Het |
Atp13a4 |
T |
G |
16: 29,290,720 (GRCm39) |
Y243S |
|
Het |
Bend3 |
T |
G |
10: 43,386,899 (GRCm39) |
C431G |
probably damaging |
Het |
Ccdc57 |
G |
A |
11: 120,812,599 (GRCm39) |
R52C |
probably damaging |
Het |
Ccl22 |
T |
C |
8: 95,473,619 (GRCm39) |
W55R |
probably damaging |
Het |
Ccnk |
A |
G |
12: 108,152,758 (GRCm39) |
Y25C |
probably damaging |
Het |
Cntnap5a |
C |
T |
1: 116,499,271 (GRCm39) |
P1174S |
probably damaging |
Het |
Copa |
T |
C |
1: 171,946,546 (GRCm39) |
|
probably null |
Het |
Copg2 |
C |
T |
6: 30,793,061 (GRCm39) |
V425M |
probably benign |
Het |
Dnah6 |
T |
A |
6: 73,172,664 (GRCm39) |
T265S |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,053,582 (GRCm39) |
E2936G |
probably benign |
Het |
Dync2i2 |
A |
T |
2: 29,921,903 (GRCm39) |
V486D |
probably damaging |
Het |
Erc2 |
A |
G |
14: 27,499,096 (GRCm39) |
D324G |
probably benign |
Het |
F11 |
T |
A |
8: 45,701,644 (GRCm39) |
H363L |
possibly damaging |
Het |
F7 |
T |
C |
8: 13,083,981 (GRCm39) |
V222A |
probably benign |
Het |
Fars2 |
A |
G |
13: 36,594,093 (GRCm39) |
D366G |
probably damaging |
Het |
Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
Flot2 |
A |
G |
11: 77,950,021 (GRCm39) |
I417V |
probably benign |
Het |
Fmnl1 |
T |
C |
11: 103,077,525 (GRCm39) |
F295S |
probably damaging |
Het |
Gpr89 |
G |
A |
3: 96,812,505 (GRCm39) |
T12I |
probably benign |
Het |
Gprc6a |
T |
C |
10: 51,507,370 (GRCm39) |
D53G |
probably benign |
Het |
Gtf2e1 |
T |
A |
16: 37,343,213 (GRCm39) |
I184F |
probably damaging |
Het |
Gtf2h1 |
G |
A |
7: 46,454,474 (GRCm39) |
R152H |
probably benign |
Het |
Haus3 |
A |
G |
5: 34,311,435 (GRCm39) |
F532L |
probably benign |
Het |
Klc4 |
A |
T |
17: 46,953,080 (GRCm39) |
L150Q |
possibly damaging |
Het |
Lzts3 |
C |
T |
2: 130,476,801 (GRCm39) |
R549Q |
possibly damaging |
Het |
Mbd5 |
T |
A |
2: 49,168,891 (GRCm39) |
L1354Q |
probably damaging |
Het |
Mtus2 |
A |
G |
5: 148,043,815 (GRCm39) |
D801G |
probably damaging |
Het |
Muc6 |
T |
A |
7: 141,226,795 (GRCm39) |
T1411S |
unknown |
Het |
Nalcn |
C |
A |
14: 123,554,436 (GRCm39) |
G954C |
probably damaging |
Het |
Nlrp9b |
G |
A |
7: 19,757,986 (GRCm39) |
E408K |
possibly damaging |
Het |
Oaz3 |
A |
G |
3: 94,342,434 (GRCm39) |
L119P |
probably damaging |
Het |
Or2w6 |
A |
G |
13: 21,843,377 (GRCm39) |
F39L |
probably damaging |
Het |
Pcdhgb5 |
T |
C |
18: 37,865,240 (GRCm39) |
V345A |
probably benign |
Het |
Pdzph1 |
A |
T |
17: 59,280,009 (GRCm39) |
Y758N |
probably benign |
Het |
Pea15a |
T |
A |
1: 172,026,812 (GRCm39) |
H65L |
probably damaging |
Het |
Pigm |
T |
A |
1: 172,205,524 (GRCm39) |
I420N |
probably benign |
Het |
Pign |
A |
G |
1: 105,516,803 (GRCm39) |
F580L |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,607,644 (GRCm39) |
|
probably benign |
Het |
Plxnc1 |
T |
C |
10: 94,649,105 (GRCm39) |
N1225D |
probably benign |
Het |
Rbbp6 |
G |
A |
7: 122,589,547 (GRCm39) |
D412N |
probably benign |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Rtl1 |
A |
G |
12: 109,559,149 (GRCm39) |
Y897H |
possibly damaging |
Het |
Scube2 |
A |
T |
7: 109,408,383 (GRCm39) |
F688Y |
probably benign |
Het |
Sgo2b |
C |
A |
8: 64,377,735 (GRCm39) |
R1166L |
unknown |
Het |
Slc12a2 |
G |
T |
18: 58,047,338 (GRCm39) |
|
probably benign |
Het |
Smpdl3b |
T |
A |
4: 132,465,712 (GRCm39) |
H236L |
probably damaging |
Het |
Spata9 |
C |
A |
13: 76,125,666 (GRCm39) |
|
probably benign |
Het |
St6galnac4 |
A |
G |
2: 32,477,667 (GRCm39) |
|
probably benign |
Het |
Stc2 |
T |
A |
11: 31,319,777 (GRCm39) |
N29I |
possibly damaging |
Het |
Sun5 |
A |
T |
2: 153,707,243 (GRCm39) |
M145K |
possibly damaging |
Het |
Tas2r106 |
T |
C |
6: 131,655,018 (GRCm39) |
I278V |
probably damaging |
Het |
Trrap |
A |
G |
5: 144,727,975 (GRCm39) |
I565M |
probably damaging |
Het |
Ttl |
A |
G |
2: 128,910,853 (GRCm39) |
K79R |
probably benign |
Het |
Ttn |
A |
T |
2: 76,737,721 (GRCm39) |
Y4319N |
unknown |
Het |
Usp28 |
T |
C |
9: 48,938,182 (GRCm39) |
L584P |
probably damaging |
Het |
Wdr27 |
A |
G |
17: 15,049,838 (GRCm39) |
S777P |
probably benign |
Het |
Wee1 |
A |
G |
7: 109,723,691 (GRCm39) |
D202G |
probably benign |
Het |
Wnt5a |
T |
C |
14: 28,244,562 (GRCm39) |
Y270H |
probably damaging |
Het |
Zfp318 |
G |
A |
17: 46,723,301 (GRCm39) |
C1768Y |
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 |
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 |
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'- TCCCACCTCAGTGTTTGGTG -3'
(R):5'- TCTCATCTCTATGGTTCCAAACAGG -3'
Sequencing Primer
(F):5'- TGGTGGTGCCATCTGCC -3'
(R):5'- GGGAAGATAGGCTGATGTTAGC -3'
|
Posted On |
2020-11-23 |