Incidental Mutation 'R5141:Inpp4a'
| ID |
396432 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inpp4a
|
| Ensembl Gene |
ENSMUSG00000026113 |
| Gene Name |
inositol polyphosphate-4-phosphatase, type I |
| Synonyms |
107kDa |
| MMRRC Submission |
042727-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R5141 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
37338946-37449817 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37419168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 583
(I583V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027287]
[ENSMUST00000058307]
[ENSMUST00000114933]
[ENSMUST00000132401]
[ENSMUST00000132615]
[ENSMUST00000136846]
[ENSMUST00000137266]
[ENSMUST00000193774]
[ENSMUST00000168546]
[ENSMUST00000140264]
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000123124
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132401
AA Change: I578V
PolyPhen 2
Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000123071
Gene: ENSMUSG00000026113
AA Change: I578V
| 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
AA Change: I583V
PolyPhen 2
Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000121803
Gene: ENSMUSG00000026113
AA Change: I583V
| 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: ENSMUST00000193774
|
| SMART Domains |
Protein: ENSMUSP00000142118
Gene: ENSMUSG00000026113
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:C2
|
45 |
87 |
7e-13 |
BLAST |
|
| 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: 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 |
|
| Meta Mutation Damage Score |
0.0786 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
96% (76/79) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
A |
G |
14: 68,810,577 (GRCm39) |
V193A |
probably benign |
Het |
| Adamts18 |
T |
A |
8: 114,501,902 (GRCm39) |
T320S |
probably damaging |
Het |
| Adamtsl1 |
G |
T |
4: 86,075,087 (GRCm39) |
M151I |
possibly damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,419,037 (GRCm39) |
V5986E |
probably damaging |
Het |
| Aifm3 |
A |
G |
16: 17,317,586 (GRCm39) |
E69G |
probably damaging |
Het |
| Akap13 |
C |
A |
7: 75,259,362 (GRCm39) |
T662K |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,598,414 (GRCm39) |
D1080G |
probably benign |
Het |
| Als2 |
T |
C |
1: 59,209,611 (GRCm39) |
E1457G |
possibly damaging |
Het |
| Apobec4 |
A |
G |
1: 152,631,964 (GRCm39) |
|
probably benign |
Het |
| Apoo-ps |
C |
T |
13: 107,550,895 (GRCm39) |
|
noncoding transcript |
Het |
| Aspscr1 |
G |
A |
11: 120,580,003 (GRCm39) |
V181I |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,841,050 (GRCm39) |
|
probably benign |
Het |
| C3 |
T |
A |
17: 57,526,570 (GRCm39) |
I804F |
probably damaging |
Het |
| Cbfa2t3 |
C |
T |
8: 123,361,760 (GRCm39) |
G421R |
probably benign |
Het |
| Chmp4c |
A |
G |
3: 10,432,213 (GRCm39) |
E41G |
probably damaging |
Het |
| Clk4 |
T |
A |
11: 51,166,598 (GRCm39) |
F96L |
possibly damaging |
Het |
| Ctsg |
G |
A |
14: 56,339,184 (GRCm39) |
R25* |
probably null |
Het |
| Cul1 |
A |
G |
6: 47,497,773 (GRCm39) |
D618G |
probably benign |
Het |
| Cylc2 |
T |
C |
4: 51,228,587 (GRCm39) |
|
probably benign |
Het |
| Dip2a |
G |
A |
10: 76,106,287 (GRCm39) |
T1326I |
probably damaging |
Het |
| Etnk2 |
A |
G |
1: 133,296,600 (GRCm39) |
I210V |
probably benign |
Het |
| Gm5773 |
T |
A |
3: 93,681,034 (GRCm39) |
D235E |
probably benign |
Het |
| Gm7353 |
T |
C |
7: 3,161,001 (GRCm39) |
|
noncoding transcript |
Het |
| Gpi1 |
G |
A |
7: 33,926,521 (GRCm39) |
|
probably benign |
Het |
| Ing4 |
T |
C |
6: 125,016,837 (GRCm39) |
M5T |
probably benign |
Het |
| Isyna1 |
T |
C |
8: 71,047,543 (GRCm39) |
V64A |
probably damaging |
Het |
| Katnal2 |
T |
A |
18: 77,085,337 (GRCm39) |
D310V |
probably damaging |
Het |
| Kbtbd8 |
A |
G |
6: 95,098,820 (GRCm39) |
T126A |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 46,906,197 (GRCm39) |
D582G |
probably benign |
Het |
| Lmf2 |
G |
A |
15: 89,235,810 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,382,693 (GRCm39) |
|
probably null |
Het |
| Lrp4 |
T |
C |
2: 91,309,023 (GRCm39) |
|
probably benign |
Het |
| Lyzl1 |
A |
C |
18: 4,169,209 (GRCm39) |
D71A |
possibly damaging |
Het |
| Mak |
C |
T |
13: 41,186,039 (GRCm39) |
C543Y |
possibly damaging |
Het |
| Mapk8ip1 |
T |
C |
2: 92,217,110 (GRCm39) |
D404G |
probably damaging |
Het |
| Mdga1 |
C |
T |
17: 30,071,467 (GRCm39) |
E385K |
probably benign |
Het |
| Mst1r |
T |
A |
9: 107,789,440 (GRCm39) |
I573N |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,368,479 (GRCm39) |
N2365K |
possibly damaging |
Het |
| Ncan |
T |
C |
8: 70,565,487 (GRCm39) |
E179G |
probably damaging |
Het |
| Nlgn2 |
C |
T |
11: 69,716,216 (GRCm39) |
R775H |
probably damaging |
Het |
| Or10d5 |
T |
G |
9: 39,861,170 (GRCm39) |
K299T |
probably benign |
Het |
| Or4c122 |
A |
C |
2: 89,079,473 (GRCm39) |
Y176* |
probably null |
Het |
| Or8g20 |
A |
G |
9: 39,395,827 (GRCm39) |
F238L |
probably damaging |
Het |
| Pcolce |
G |
T |
5: 137,604,012 (GRCm39) |
Q352K |
probably benign |
Het |
| Peg3 |
G |
T |
7: 6,712,381 (GRCm39) |
T947N |
probably benign |
Het |
| Pld3 |
C |
T |
7: 27,233,220 (GRCm39) |
D344N |
probably damaging |
Het |
| Plec |
A |
C |
15: 76,074,733 (GRCm39) |
D411E |
probably damaging |
Het |
| Pmp2 |
C |
T |
3: 10,247,474 (GRCm39) |
D72N |
probably benign |
Het |
| Ptpn9 |
T |
C |
9: 56,943,960 (GRCm39) |
V278A |
possibly damaging |
Het |
| Rbm33 |
A |
G |
5: 28,557,687 (GRCm39) |
H300R |
probably damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,987,546 (GRCm39) |
Q837R |
probably benign |
Het |
| Rwdd4a |
T |
C |
8: 48,003,709 (GRCm39) |
|
probably benign |
Het |
| Sema6a |
T |
C |
18: 47,381,455 (GRCm39) |
T1048A |
probably damaging |
Het |
| Senp1 |
G |
A |
15: 97,974,488 (GRCm39) |
A108V |
probably benign |
Het |
| Serpine2 |
G |
T |
1: 79,780,580 (GRCm39) |
Q290K |
possibly damaging |
Het |
| Sesn1 |
A |
G |
10: 41,687,097 (GRCm39) |
N27S |
probably benign |
Het |
| Shroom1 |
T |
A |
11: 53,354,809 (GRCm39) |
L243* |
probably null |
Het |
| Slc17a5 |
A |
G |
9: 78,448,270 (GRCm39) |
Y395H |
probably damaging |
Het |
| Slc5a8 |
T |
C |
10: 88,755,422 (GRCm39) |
|
probably null |
Het |
| Sptbn5 |
G |
A |
2: 119,892,212 (GRCm39) |
S1083F |
probably benign |
Het |
| Stx4a |
T |
A |
7: 127,445,787 (GRCm39) |
V231E |
probably damaging |
Het |
| Swt1 |
A |
T |
1: 151,287,145 (GRCm39) |
S116T |
probably benign |
Het |
| Syt9 |
C |
T |
7: 107,103,426 (GRCm39) |
T408I |
probably damaging |
Het |
| Tgm7 |
T |
C |
2: 120,931,480 (GRCm39) |
T228A |
probably benign |
Het |
| Tmem115 |
A |
G |
9: 107,415,141 (GRCm39) |
D310G |
probably benign |
Het |
| Trcg1 |
G |
A |
9: 57,148,587 (GRCm39) |
G53D |
probably damaging |
Het |
| Tsfm |
T |
C |
10: 126,865,482 (GRCm39) |
K100E |
probably damaging |
Het |
| Usp1 |
A |
G |
4: 98,822,446 (GRCm39) |
T587A |
probably damaging |
Het |
| Vcpip1 |
G |
T |
1: 9,818,302 (GRCm39) |
A27E |
unknown |
Het |
| Vmn2r49 |
T |
C |
7: 9,720,300 (GRCm39) |
N397S |
probably benign |
Het |
| Vmn2r8 |
A |
G |
5: 108,956,572 (GRCm39) |
S17P |
probably damaging |
Het |
| Vwa3b |
A |
G |
1: 37,226,102 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
T |
A |
18: 44,998,114 (GRCm39) |
S1094T |
probably benign |
Het |
| Zbtb22 |
C |
G |
17: 34,137,610 (GRCm39) |
S585C |
possibly damaging |
Het |
| Zhx2 |
A |
G |
15: 57,685,182 (GRCm39) |
T184A |
probably benign |
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 |
|
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'- CTGTTGCACAATCTGACCCAG -3'
(R):5'- CTAAAGTCTGCACTGGGGAG -3'
Sequencing Primer
(F):5'- AATCTGACCCAGACAGTCTTGTTGG -3'
(R):5'- CACTGGGGAGGCACACATG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation