Incidental Mutation 'R0388:Inpp4a'
ID |
31384 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inpp4a
|
Ensembl Gene |
ENSMUSG00000026113 |
Gene Name |
inositol polyphosphate-4-phosphatase, type I |
Synonyms |
107kDa |
MMRRC Submission |
038594-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.209)
|
Stock # |
R0388 (G1)
|
Quality Score |
180 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
37338946-37449817 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37435241 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 837
(D837G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027287
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027287]
[ENSMUST00000058307]
[ENSMUST00000114933]
[ENSMUST00000132401]
[ENSMUST00000132615]
[ENSMUST00000136846]
[ENSMUST00000137266]
[ENSMUST00000193774]
[ENSMUST00000140264]
[ENSMUST00000168546]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027287
AA Change: D837G
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000027287 Gene: ENSMUSG00000026113 AA Change: D837G
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 |
possibly damaging
Transcript: ENSMUST00000058307
AA Change: D561G
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000057233 Gene: ENSMUSG00000026113 AA Change: D561G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
651 |
673 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114933
AA Change: D572G
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000110583 Gene: ENSMUSG00000026113 AA Change: D572G
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
AA Change: D870G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000123071 Gene: ENSMUSG00000026113 AA Change: D870G
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
AA Change: D836G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000115249 Gene: ENSMUSG00000026113 AA Change: D836G
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 |
possibly damaging
Transcript: ENSMUST00000136846
AA Change: D836G
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000121518 Gene: ENSMUSG00000026113 AA Change: D836G
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: D875G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000121803 Gene: ENSMUSG00000026113 AA Change: D875G
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: ENSMUST00000193774
AA Change: D204G
PolyPhen 2
Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000142118 Gene: ENSMUSG00000026113 AA Change: D204G
Domain | Start | End | E-Value | Type |
Blast:C2
|
45 |
87 |
7e-13 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140264
AA Change: D831G
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000121107 Gene: ENSMUSG00000026113 AA Change: D831G
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
AA Change: D561G
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000130443 Gene: ENSMUSG00000026113 AA Change: D561G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
651 |
673 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.3005 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 90.7%
|
Validation Efficiency |
100% (67/67) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
Acsbg1 |
T |
C |
9: 54,516,347 (GRCm39) |
K678R |
probably damaging |
Het |
Adgrg6 |
A |
G |
10: 14,326,402 (GRCm39) |
I410T |
probably benign |
Het |
Afap1l2 |
A |
C |
19: 56,905,674 (GRCm39) |
|
probably benign |
Het |
Aox1 |
T |
C |
1: 58,393,565 (GRCm39) |
Y1242H |
probably damaging |
Het |
Apoo-ps |
T |
C |
13: 107,551,173 (GRCm39) |
|
noncoding transcript |
Het |
Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
Cdh3 |
C |
A |
8: 107,265,761 (GRCm39) |
T268K |
probably damaging |
Het |
Chd5 |
T |
A |
4: 152,456,101 (GRCm39) |
H923Q |
probably damaging |
Het |
Chd7 |
T |
C |
4: 8,854,560 (GRCm39) |
V1967A |
probably benign |
Het |
Cntn3 |
T |
C |
6: 102,254,277 (GRCm39) |
M222V |
probably damaging |
Het |
Dcaf17 |
A |
G |
2: 70,908,915 (GRCm39) |
K277R |
probably benign |
Het |
Dmbt1 |
T |
C |
7: 130,697,779 (GRCm39) |
|
probably benign |
Het |
Dmpk |
T |
A |
7: 18,818,002 (GRCm39) |
|
probably benign |
Het |
Dzank1 |
A |
T |
2: 144,318,026 (GRCm39) |
L714Q |
possibly damaging |
Het |
Efcab3 |
A |
G |
11: 105,000,227 (GRCm39) |
D272G |
possibly damaging |
Het |
Erbb2 |
G |
C |
11: 98,318,177 (GRCm39) |
R471P |
possibly damaging |
Het |
Esf1 |
T |
A |
2: 139,962,791 (GRCm39) |
Y760F |
possibly damaging |
Het |
Fanci |
C |
A |
7: 79,089,378 (GRCm39) |
T938K |
probably benign |
Het |
Gnai3 |
A |
G |
3: 108,023,073 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
T |
A |
4: 137,238,469 (GRCm39) |
C319S |
probably damaging |
Het |
Il12a |
T |
A |
3: 68,602,520 (GRCm39) |
|
probably null |
Het |
Kcnj5 |
T |
A |
9: 32,229,159 (GRCm39) |
E13V |
probably damaging |
Het |
Kcnq3 |
T |
A |
15: 65,871,887 (GRCm39) |
Y594F |
probably benign |
Het |
Kif16b |
T |
C |
2: 142,582,857 (GRCm39) |
E556G |
probably damaging |
Het |
Kif28 |
T |
C |
1: 179,567,654 (GRCm39) |
I39V |
possibly damaging |
Het |
Lgi2 |
T |
C |
5: 52,711,891 (GRCm39) |
E143G |
probably damaging |
Het |
Mast1 |
T |
G |
8: 85,642,166 (GRCm39) |
I1063L |
probably benign |
Het |
Med12l |
T |
C |
3: 59,000,925 (GRCm39) |
|
probably benign |
Het |
Mmp19 |
G |
T |
10: 128,634,752 (GRCm39) |
R456L |
probably benign |
Het |
Mon1b |
T |
A |
8: 114,365,710 (GRCm39) |
V346E |
probably damaging |
Het |
Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
Mrgpra9 |
A |
T |
7: 46,902,542 (GRCm39) |
M1K |
probably null |
Het |
Mycbp2 |
A |
T |
14: 103,394,103 (GRCm39) |
H2819Q |
probably benign |
Het |
Nav1 |
A |
C |
1: 135,376,655 (GRCm39) |
|
probably benign |
Het |
Neurl4 |
T |
C |
11: 69,802,559 (GRCm39) |
|
probably benign |
Het |
Ntng2 |
G |
C |
2: 29,097,438 (GRCm39) |
P341R |
probably damaging |
Het |
Oas1d |
A |
T |
5: 121,055,091 (GRCm39) |
Y221F |
probably damaging |
Het |
Or1j19 |
C |
A |
2: 36,676,874 (GRCm39) |
D112E |
probably benign |
Het |
Or1l4 |
A |
C |
2: 37,092,196 (GRCm39) |
|
probably null |
Het |
Or5al6 |
A |
G |
2: 85,976,974 (GRCm39) |
Y35H |
probably damaging |
Het |
Osbpl8 |
A |
G |
10: 111,108,143 (GRCm39) |
M380V |
probably benign |
Het |
Pank1 |
T |
C |
19: 34,799,106 (GRCm39) |
|
probably benign |
Het |
Parn |
T |
C |
16: 13,472,340 (GRCm39) |
D169G |
possibly damaging |
Het |
Pknox1 |
T |
A |
17: 31,822,166 (GRCm39) |
I311N |
probably damaging |
Het |
Pprc1 |
T |
C |
19: 46,051,214 (GRCm39) |
V248A |
possibly damaging |
Het |
Prkcq |
T |
C |
2: 11,259,045 (GRCm39) |
C322R |
probably benign |
Het |
Ptpn13 |
T |
A |
5: 103,702,928 (GRCm39) |
I1298N |
probably benign |
Het |
Rab11fip3 |
A |
G |
17: 26,288,046 (GRCm39) |
S36P |
probably benign |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Sass6 |
C |
A |
3: 116,400,957 (GRCm39) |
|
probably benign |
Het |
Shroom3 |
G |
A |
5: 93,099,152 (GRCm39) |
G1463D |
probably benign |
Het |
Slc35d1 |
A |
T |
4: 103,042,084 (GRCm39) |
Y249* |
probably null |
Het |
Slc9a3 |
C |
T |
13: 74,269,655 (GRCm39) |
P8S |
unknown |
Het |
Slc9a9 |
T |
A |
9: 94,821,616 (GRCm39) |
|
probably null |
Het |
Sting1 |
A |
G |
18: 35,868,164 (GRCm39) |
|
probably null |
Het |
Syne2 |
T |
A |
12: 76,033,749 (GRCm39) |
M3666K |
probably benign |
Het |
Synpo2 |
A |
G |
3: 122,873,546 (GRCm39) |
V1140A |
probably benign |
Het |
Thada |
A |
G |
17: 84,538,524 (GRCm39) |
F1495L |
probably benign |
Het |
Timeless |
A |
G |
10: 128,077,294 (GRCm39) |
|
probably null |
Het |
Tlr6 |
G |
T |
5: 65,112,548 (GRCm39) |
H120N |
possibly damaging |
Het |
Tns3 |
T |
C |
11: 8,395,703 (GRCm39) |
I1234V |
probably benign |
Het |
Ttll9 |
A |
G |
2: 152,842,099 (GRCm39) |
S318G |
probably benign |
Het |
Vps13c |
T |
C |
9: 67,830,197 (GRCm39) |
|
probably benign |
Het |
Zfp933 |
T |
C |
4: 147,910,899 (GRCm39) |
I232M |
probably benign |
Het |
Zfyve27 |
T |
C |
19: 42,178,024 (GRCm39) |
S382P |
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 |
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'- CTTCCTCCAGCCTCTTGGGAAAAC -3'
(R):5'- TGCTGAACCTACACAGTGATGCC -3'
Sequencing Primer
(F):5'- GATAAAGTCTCTACCCTCTGACAGTG -3'
(R):5'- AACCTACACAGTGATGCCCTTTC -3'
|
Posted On |
2013-04-24 |