Incidental Mutation 'R7126:Inpp4a'
| ID |
552296 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inpp4a
|
| Ensembl Gene |
ENSMUSG00000026113 |
| Gene Name |
inositol polyphosphate-4-phosphatase, type I |
| Synonyms |
107kDa |
| MMRRC Submission |
045213-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R7126 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
37338946-37449817 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 37413353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 123
(H123Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057233
(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
AA Change: H388Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000027287
Gene: ENSMUSG00000026113
AA Change: H388Q
| 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: H123Q
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000057233
Gene: ENSMUSG00000026113
AA Change: H123Q
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
651 |
673 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114933
AA Change: H123Q
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000110583
Gene: ENSMUSG00000026113
AA Change: H123Q
| 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 null
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 null
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 null
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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (73/75) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
T |
C |
3: 36,535,988 (GRCm39) |
C85R |
unknown |
Het |
| 3110082I17Rik |
G |
T |
5: 139,347,005 (GRCm39) |
H153Q |
unknown |
Het |
| Acadsb |
T |
C |
7: 131,039,177 (GRCm39) |
I316T |
probably benign |
Het |
| Acsbg2 |
A |
T |
17: 57,153,633 (GRCm39) |
N523K |
probably damaging |
Het |
| Ahnak |
C |
T |
19: 8,979,723 (GRCm39) |
P336S |
possibly damaging |
Het |
| Ankdd1b |
A |
G |
13: 96,566,370 (GRCm39) |
V277A |
possibly damaging |
Het |
| Aspm |
A |
G |
1: 139,408,541 (GRCm39) |
Y2476C |
probably benign |
Het |
| Atg13 |
G |
A |
2: 91,510,765 (GRCm39) |
R321W |
probably damaging |
Het |
| B4galt2 |
A |
G |
4: 117,734,735 (GRCm39) |
F211S |
probably damaging |
Het |
| Baiap3 |
T |
A |
17: 25,464,119 (GRCm39) |
T913S |
possibly damaging |
Het |
| Btbd18 |
A |
T |
2: 84,496,546 (GRCm39) |
E61D |
possibly damaging |
Het |
| Btnl9 |
G |
T |
11: 49,060,082 (GRCm39) |
S555R |
probably damaging |
Het |
| Cbs |
T |
A |
17: 31,838,113 (GRCm39) |
M379L |
probably benign |
Het |
| Chd9 |
G |
A |
8: 91,741,853 (GRCm39) |
G1614D |
unknown |
Het |
| Cmya5 |
G |
A |
13: 93,226,448 (GRCm39) |
P2880L |
probably benign |
Het |
| Cnnm1 |
T |
C |
19: 43,473,292 (GRCm39) |
S729P |
probably damaging |
Het |
| Cox16 |
T |
A |
12: 81,518,940 (GRCm39) |
E70D |
probably benign |
Het |
| Cp |
A |
G |
3: 20,034,788 (GRCm39) |
H699R |
probably damaging |
Het |
| Cyp2d26 |
T |
C |
15: 82,678,209 (GRCm39) |
N56D |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,725,667 (GRCm39) |
Y707C |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,349,983 (GRCm39) |
E2555D |
probably benign |
Het |
| Ess2 |
T |
C |
16: 17,729,154 (GRCm39) |
T6A |
unknown |
Het |
| Filip1 |
A |
G |
9: 79,805,577 (GRCm39) |
L59P |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,813,485 (GRCm39) |
N3268S |
possibly damaging |
Het |
| Gja10 |
A |
T |
4: 32,601,014 (GRCm39) |
C457S |
probably benign |
Het |
| Gm4779 |
TCGGGGCCGGGGCCGGGGCCG |
TCGGGGCCGGGGCCGGGGCCGGGGCCG |
X: 100,837,777 (GRCm39) |
|
probably benign |
Het |
| Gm47959 |
G |
A |
1: 82,978,503 (GRCm39) |
G57S |
unknown |
Het |
| Grep1 |
C |
T |
17: 23,939,538 (GRCm39) |
V8I |
probably benign |
Het |
| Grid2 |
T |
A |
6: 64,053,794 (GRCm39) |
V331E |
probably damaging |
Het |
| Ireb2 |
T |
A |
9: 54,793,851 (GRCm39) |
Y260* |
probably null |
Het |
| Itpr2 |
G |
A |
6: 146,259,294 (GRCm39) |
Q628* |
probably null |
Het |
| Kbtbd11 |
G |
A |
8: 15,078,759 (GRCm39) |
A453T |
probably damaging |
Het |
| Kcnj2 |
A |
G |
11: 110,963,648 (GRCm39) |
T347A |
probably damaging |
Het |
| Kif19b |
A |
T |
5: 140,477,073 (GRCm39) |
D874V |
probably benign |
Het |
| Klhl12 |
A |
G |
1: 134,395,521 (GRCm39) |
H161R |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,856,871 (GRCm39) |
E412G |
probably damaging |
Het |
| Lzic |
A |
G |
4: 149,573,132 (GRCm39) |
I95V |
probably damaging |
Het |
| Mme |
C |
T |
3: 63,276,322 (GRCm39) |
P700S |
probably damaging |
Het |
| Mroh2a |
G |
T |
1: 88,182,657 (GRCm39) |
R1195L |
possibly damaging |
Het |
| Mthfd2 |
A |
G |
6: 83,290,472 (GRCm39) |
V53A |
probably benign |
Het |
| Mtus1 |
A |
G |
8: 41,468,439 (GRCm39) |
L210P |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,552,512 (GRCm39) |
T4594A |
probably benign |
Het |
| Niban1 |
T |
A |
1: 151,590,318 (GRCm39) |
C537* |
probably null |
Het |
| Olfm5 |
A |
T |
7: 103,809,187 (GRCm39) |
C208S |
probably damaging |
Het |
| Or10q1 |
T |
A |
19: 13,726,887 (GRCm39) |
I139N |
possibly damaging |
Het |
| Or2ad1 |
A |
T |
13: 21,326,888 (GRCm39) |
L113H |
probably damaging |
Het |
| Or7a39 |
T |
C |
10: 78,715,411 (GRCm39) |
V135A |
possibly damaging |
Het |
| Parp12 |
T |
C |
6: 39,088,670 (GRCm39) |
I189V |
probably benign |
Het |
| Plin1 |
T |
C |
7: 79,376,412 (GRCm39) |
|
probably null |
Het |
| Prl7a1 |
C |
T |
13: 27,826,402 (GRCm39) |
|
probably null |
Het |
| Ptpn23 |
T |
C |
9: 110,217,812 (GRCm39) |
D711G |
probably benign |
Het |
| Rgs22 |
A |
T |
15: 36,103,954 (GRCm39) |
I169N |
probably damaging |
Het |
| Scn7a |
G |
T |
2: 66,587,630 (GRCm39) |
H24Q |
possibly damaging |
Het |
| Scrt2 |
C |
T |
2: 151,935,006 (GRCm39) |
P53L |
probably damaging |
Het |
| Sh3rf1 |
A |
T |
8: 61,802,458 (GRCm39) |
I264L |
probably benign |
Het |
| Smarcd1 |
A |
T |
15: 99,607,206 (GRCm39) |
D393V |
probably damaging |
Het |
| Spag17 |
T |
G |
3: 100,008,751 (GRCm39) |
N1960K |
probably benign |
Het |
| Ssb |
A |
G |
2: 69,696,845 (GRCm39) |
T62A |
possibly damaging |
Het |
| Taar7b |
T |
A |
10: 23,875,960 (GRCm39) |
Y42N |
possibly damaging |
Het |
| Terf1 |
A |
T |
1: 15,883,363 (GRCm39) |
I159L |
probably benign |
Het |
| Tff3 |
T |
G |
17: 31,346,410 (GRCm39) |
N54T |
probably benign |
Het |
| Top2a |
A |
G |
11: 98,905,818 (GRCm39) |
L285P |
probably benign |
Het |
| Trim24 |
A |
G |
6: 37,896,392 (GRCm39) |
Y283C |
probably damaging |
Het |
| Trim58 |
T |
C |
11: 58,531,405 (GRCm39) |
C38R |
probably damaging |
Het |
| Trpa1 |
T |
A |
1: 14,960,648 (GRCm39) |
T647S |
probably benign |
Het |
| Trpm4 |
A |
T |
7: 44,960,133 (GRCm39) |
|
probably null |
Het |
| Trpm6 |
C |
T |
19: 18,831,397 (GRCm39) |
Q1421* |
probably null |
Het |
| Ubr2 |
A |
T |
17: 47,284,982 (GRCm39) |
|
probably null |
Het |
| Vmn1r46 |
T |
G |
6: 89,953,976 (GRCm39) |
I275S |
possibly damaging |
Het |
| Vmn2r54 |
A |
G |
7: 12,366,088 (GRCm39) |
F282S |
possibly damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,049,218 (GRCm39) |
S844P |
possibly damaging |
Het |
| Vps13a |
A |
C |
19: 16,688,243 (GRCm39) |
C855G |
probably benign |
Het |
| Wdr31 |
T |
A |
4: 62,381,666 (GRCm39) |
Q55L |
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 |
|
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 |
|
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'- CAGACTCACTCCAGGGAATAAG -3'
(R):5'- TCAGGCCATAAAGGAGGCTG -3'
Sequencing Primer
(F):5'- CACTCCAGGGAATAAGTATTTTAGAC -3'
(R):5'- GCAGATGGCAGAATGGCTATTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation