Incidental Mutation 'R2258:Inpp4a'
| ID |
243498 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inpp4a
|
| Ensembl Gene |
ENSMUSG00000026113 |
| Gene Name |
inositol polyphosphate-4-phosphatase, type I |
| Synonyms |
107kDa |
| MMRRC Submission |
040258-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R2258 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
37338946-37449817 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37416777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 433
(S433T)
|
| 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 damaging
Transcript: ENSMUST00000027287
AA Change: S434T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000027287
Gene: ENSMUSG00000026113
AA Change: S434T
| 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: S169T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000057233
Gene: ENSMUSG00000026113
AA Change: S169T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
651 |
673 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114933
AA Change: S169T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110583
Gene: ENSMUSG00000026113
AA Change: S169T
| 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: S428T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123071
Gene: ENSMUSG00000026113
AA Change: S428T
| 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 damaging
Transcript: ENSMUST00000132615
AA Change: S433T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000115249
Gene: ENSMUSG00000026113
AA Change: S433T
| 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: S433T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121518
Gene: ENSMUSG00000026113
AA Change: S433T
| 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: S433T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121803
Gene: ENSMUSG00000026113
AA Change: S433T
| 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 |
possibly damaging
Transcript: ENSMUST00000168546
AA Change: S169T
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130443
Gene: ENSMUSG00000026113
AA Change: S169T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
651 |
673 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140264
AA Change: S428T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121107
Gene: ENSMUSG00000026113
AA Change: S428T
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,207,267 (GRCm39) |
N308S |
possibly damaging |
Het |
| Acot5 |
A |
T |
12: 84,122,643 (GRCm39) |
H409L |
possibly damaging |
Het |
| Ang4 |
A |
G |
14: 52,001,955 (GRCm39) |
|
probably benign |
Het |
| Ap3d1 |
A |
G |
10: 80,556,966 (GRCm39) |
S315P |
probably benign |
Het |
| Arhgap15 |
G |
A |
2: 44,276,359 (GRCm39) |
G437R |
probably damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,562,287 (GRCm39) |
C810R |
probably damaging |
Het |
| Capn5 |
A |
G |
7: 97,785,082 (GRCm39) |
W131R |
probably damaging |
Het |
| Ccnj |
A |
G |
19: 40,834,277 (GRCm39) |
Q292R |
probably benign |
Het |
| Cd177 |
A |
G |
7: 24,455,661 (GRCm39) |
V287A |
possibly damaging |
Het |
| Cdk5r2 |
T |
C |
1: 74,895,059 (GRCm39) |
L268P |
probably damaging |
Het |
| Cfap251 |
C |
G |
5: 123,421,411 (GRCm39) |
|
probably null |
Het |
| Clrn2 |
A |
G |
5: 45,611,304 (GRCm39) |
D51G |
probably benign |
Het |
| Cntd1 |
T |
C |
11: 101,175,682 (GRCm39) |
S174P |
probably damaging |
Het |
| Col11a2 |
A |
G |
17: 34,258,651 (GRCm39) |
H8R |
probably benign |
Het |
| Col17a1 |
C |
T |
19: 47,669,816 (GRCm39) |
|
probably null |
Het |
| Cyp2a5 |
A |
G |
7: 26,536,528 (GRCm39) |
D169G |
possibly damaging |
Het |
| Cyp2c37 |
A |
G |
19: 39,984,303 (GRCm39) |
I264V |
possibly damaging |
Het |
| Cyp2j12 |
A |
G |
4: 96,021,315 (GRCm39) |
I97T |
probably damaging |
Het |
| Dipk1b |
T |
C |
2: 26,525,162 (GRCm39) |
L157P |
probably damaging |
Het |
| Eif3b |
T |
C |
5: 140,413,258 (GRCm39) |
F354L |
possibly damaging |
Het |
| Eif4a3l1 |
A |
T |
6: 136,305,559 (GRCm39) |
M7L |
probably benign |
Het |
| Entpd2 |
C |
T |
2: 25,288,099 (GRCm39) |
P108S |
probably damaging |
Het |
| F5 |
T |
A |
1: 164,019,750 (GRCm39) |
S742T |
probably damaging |
Het |
| Fam187a |
A |
G |
11: 102,776,124 (GRCm39) |
|
probably benign |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,438,665 (GRCm39) |
W186* |
probably null |
Het |
| Fndc3b |
G |
T |
3: 27,494,309 (GRCm39) |
Q939K |
possibly damaging |
Het |
| Gja4 |
C |
A |
4: 127,206,623 (GRCm39) |
D47Y |
probably damaging |
Het |
| Gm11565 |
T |
G |
11: 99,805,844 (GRCm39) |
C79G |
possibly damaging |
Het |
| Gpbar1 |
T |
C |
1: 74,318,164 (GRCm39) |
F136L |
probably benign |
Het |
| Gsn |
G |
A |
2: 35,180,349 (GRCm39) |
G130E |
probably damaging |
Het |
| Hecw1 |
A |
T |
13: 14,490,723 (GRCm39) |
D756E |
probably benign |
Het |
| Hrc |
C |
A |
7: 44,986,105 (GRCm39) |
R419S |
possibly damaging |
Het |
| Ism2 |
C |
A |
12: 87,326,848 (GRCm39) |
V320L |
possibly damaging |
Het |
| Krt8 |
G |
T |
15: 101,907,257 (GRCm39) |
D275E |
probably benign |
Het |
| Lgalsl2 |
A |
G |
7: 5,362,401 (GRCm39) |
M11V |
probably benign |
Het |
| Lyg2 |
A |
C |
1: 37,948,077 (GRCm39) |
N132K |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,812,243 (GRCm39) |
R885Q |
probably benign |
Het |
| Marveld2 |
A |
G |
13: 100,748,978 (GRCm39) |
S34P |
probably benign |
Het |
| Mcc |
C |
A |
18: 44,608,203 (GRCm39) |
G355W |
probably damaging |
Het |
| Mllt6 |
T |
C |
11: 97,555,802 (GRCm39) |
V44A |
probably damaging |
Het |
| Mrgpra3 |
A |
T |
7: 47,239,842 (GRCm39) |
M28K |
probably benign |
Het |
| Ms4a15 |
A |
G |
19: 10,962,159 (GRCm39) |
C47R |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,344,745 (GRCm39) |
N72S |
probably benign |
Het |
| Myo18b |
C |
T |
5: 113,022,529 (GRCm39) |
|
probably benign |
Het |
| Nat8f4 |
A |
T |
6: 85,878,207 (GRCm39) |
H105Q |
possibly damaging |
Het |
| Ncapd3 |
A |
G |
9: 26,967,368 (GRCm39) |
D568G |
probably benign |
Het |
| Nptx1 |
T |
G |
11: 119,434,142 (GRCm39) |
I315L |
probably benign |
Het |
| Nrap |
T |
C |
19: 56,310,394 (GRCm39) |
R1534G |
possibly damaging |
Het |
| Nwd2 |
C |
A |
5: 63,962,499 (GRCm39) |
N694K |
probably benign |
Het |
| Oas1c |
G |
A |
5: 120,941,082 (GRCm39) |
A35V |
probably null |
Het |
| Or2d3b |
A |
G |
7: 106,514,113 (GRCm39) |
K236R |
probably damaging |
Het |
| Or5bw2 |
A |
T |
7: 6,573,022 (GRCm39) |
I11F |
probably damaging |
Het |
| Or5p58 |
C |
T |
7: 107,694,402 (GRCm39) |
R125H |
possibly damaging |
Het |
| Or8d1b |
T |
C |
9: 38,887,296 (GRCm39) |
V108A |
probably benign |
Het |
| Pate8 |
C |
A |
9: 36,493,161 (GRCm39) |
V54L |
probably benign |
Het |
| Pde2a |
A |
T |
7: 101,133,774 (GRCm39) |
D85V |
probably damaging |
Het |
| Plaat5 |
C |
T |
19: 7,590,111 (GRCm39) |
R46C |
probably damaging |
Het |
| Polr1f |
A |
G |
12: 33,483,587 (GRCm39) |
H113R |
probably damaging |
Het |
| Prex1 |
C |
T |
2: 166,429,077 (GRCm39) |
V839I |
probably benign |
Het |
| Psmd3 |
T |
A |
11: 98,581,790 (GRCm39) |
M305K |
probably benign |
Het |
| Rbm20 |
T |
C |
19: 53,840,172 (GRCm39) |
S1054P |
probably benign |
Het |
| Rhox13 |
G |
C |
X: 37,210,221 (GRCm39) |
E19Q |
unknown |
Het |
| Ryr2 |
A |
G |
13: 11,753,102 (GRCm39) |
F1740L |
possibly damaging |
Het |
| Sox1 |
C |
A |
8: 12,446,927 (GRCm39) |
N189K |
possibly damaging |
Het |
| Spta1 |
C |
A |
1: 174,001,907 (GRCm39) |
S12R |
possibly damaging |
Het |
| Stard13 |
A |
G |
5: 150,963,196 (GRCm39) |
L971P |
probably damaging |
Het |
| Tigd4 |
T |
A |
3: 84,501,600 (GRCm39) |
N172K |
probably benign |
Het |
| Tmt1a |
A |
T |
15: 100,211,049 (GRCm39) |
I174F |
probably benign |
Het |
| Ttyh1 |
T |
C |
7: 4,131,183 (GRCm39) |
V218A |
probably damaging |
Het |
| Unc45b |
T |
A |
11: 82,808,625 (GRCm39) |
M237K |
probably benign |
Het |
| Vldlr |
A |
G |
19: 27,215,786 (GRCm39) |
D220G |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,861,142 (GRCm39) |
N2891S |
probably benign |
Het |
| Wdr25 |
T |
A |
12: 108,864,100 (GRCm39) |
S82T |
possibly damaging |
Het |
| Wnk4 |
C |
A |
11: 101,165,861 (GRCm39) |
P796Q |
probably damaging |
Het |
| Xpo5 |
C |
T |
17: 46,551,822 (GRCm39) |
Q1050* |
probably null |
Het |
| Zc3h15 |
G |
A |
2: 83,487,360 (GRCm39) |
V60I |
probably benign |
Het |
| Zfp629 |
G |
A |
7: 127,210,963 (GRCm39) |
T282M |
probably damaging |
Het |
| Zscan22 |
T |
G |
7: 12,637,887 (GRCm39) |
V93G |
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 |
|
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'- GCCCATCAGTGATTAAACTTACC -3'
(R):5'- AGGTCACCACAATGGCTCTC -3'
Sequencing Primer
(F):5'- TACCAAGAAAACCCCTCTATTTTAGG -3'
(R):5'- GGCTCTCCATTTGGCTCTGG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation