Incidental Mutation 'R1719:Inpp4a'
ID |
191240 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inpp4a
|
Ensembl Gene |
ENSMUSG00000026113 |
Gene Name |
inositol polyphosphate-4-phosphatase, type I |
Synonyms |
107kDa |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.209)
|
Stock # |
R1719 (G1)
|
Quality Score |
155 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
37338946-37449817 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 37437880 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 223
(S223C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142118
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027287]
[ENSMUST00000058307]
[ENSMUST00000114933]
[ENSMUST00000132401]
[ENSMUST00000132615]
[ENSMUST00000136846]
[ENSMUST00000137266]
[ENSMUST00000140264]
[ENSMUST00000193774]
[ENSMUST00000168546]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027287
AA Change: S856C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027287 Gene: ENSMUSG00000026113 AA Change: S856C
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: S580C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000057233 Gene: ENSMUSG00000026113 AA Change: S580C
Domain | Start | End | E-Value | Type |
transmembrane domain
|
651 |
673 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114933
AA Change: S591C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110583 Gene: ENSMUSG00000026113 AA Change: S591C
Domain | Start | End | E-Value | Type |
low complexity region
|
300 |
325 |
N/A |
INTRINSIC |
transmembrane domain
|
662 |
684 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000132401
AA Change: S889C
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000123071 Gene: ENSMUSG00000026113 AA Change: S889C
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: S855C
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000115249 Gene: ENSMUSG00000026113 AA Change: S855C
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: S855C
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000121518 Gene: ENSMUSG00000026113 AA Change: S855C
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: S894C
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000121803 Gene: ENSMUSG00000026113 AA Change: S894C
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: ENSMUST00000140264
AA Change: S850C
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000121107 Gene: ENSMUSG00000026113 AA Change: S850C
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 damaging
Transcript: ENSMUST00000193774
AA Change: S223C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142118 Gene: ENSMUSG00000026113 AA Change: S223C
Domain | Start | End | E-Value | Type |
Blast:C2
|
45 |
87 |
7e-13 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168546
AA Change: S580C
PolyPhen 2
Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000130443 Gene: ENSMUSG00000026113 AA Change: S580C
Domain | Start | End | E-Value | Type |
transmembrane domain
|
651 |
673 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.3%
|
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
A |
T |
19: 31,904,526 (GRCm39) |
K263M |
probably damaging |
Het |
Adam26a |
G |
A |
8: 44,023,073 (GRCm39) |
T139M |
possibly damaging |
Het |
Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
Akap9 |
C |
T |
5: 4,007,645 (GRCm39) |
Q238* |
probably null |
Het |
Ankrd6 |
A |
T |
4: 32,828,774 (GRCm39) |
V85E |
probably damaging |
Het |
Ap2b1 |
C |
A |
11: 83,215,430 (GRCm39) |
P125T |
probably damaging |
Het |
Arhgef7 |
C |
A |
8: 11,858,713 (GRCm39) |
|
probably null |
Het |
Cblc |
A |
T |
7: 19,524,399 (GRCm39) |
D280E |
probably benign |
Het |
Cdk11b |
T |
C |
4: 155,732,854 (GRCm39) |
|
probably benign |
Het |
Cela2a |
G |
T |
4: 141,545,257 (GRCm39) |
F239L |
probably damaging |
Het |
Cfap57 |
A |
T |
4: 118,463,828 (GRCm39) |
C342S |
probably benign |
Het |
Clca4a |
C |
A |
3: 144,669,516 (GRCm39) |
W345L |
probably damaging |
Het |
Col6a5 |
T |
C |
9: 105,808,492 (GRCm39) |
D852G |
unknown |
Het |
Cyp4a32 |
T |
C |
4: 115,468,505 (GRCm39) |
V329A |
possibly damaging |
Het |
Dcaf8 |
C |
T |
1: 172,003,062 (GRCm39) |
P287S |
probably damaging |
Het |
Dmxl1 |
T |
A |
18: 50,067,704 (GRCm39) |
D2654E |
probably damaging |
Het |
Dpep1 |
A |
T |
8: 123,927,486 (GRCm39) |
I347F |
possibly damaging |
Het |
Dtnb |
T |
A |
12: 3,693,936 (GRCm39) |
Y56* |
probably null |
Het |
Duox1 |
T |
C |
2: 122,169,125 (GRCm39) |
Y1182H |
possibly damaging |
Het |
Dusp10 |
T |
A |
1: 183,769,422 (GRCm39) |
S129R |
probably benign |
Het |
Dync2i1 |
T |
C |
12: 116,219,532 (GRCm39) |
I137V |
probably benign |
Het |
Epcam |
G |
A |
17: 87,949,556 (GRCm39) |
R173Q |
probably damaging |
Het |
Ephb3 |
A |
G |
16: 21,039,400 (GRCm39) |
E384G |
probably damaging |
Het |
Exosc10 |
A |
T |
4: 148,652,960 (GRCm39) |
D525V |
probably damaging |
Het |
Fam186a |
T |
A |
15: 99,840,227 (GRCm39) |
T2006S |
possibly damaging |
Het |
Fbxw21 |
T |
A |
9: 108,977,242 (GRCm39) |
T156S |
possibly damaging |
Het |
Fcrl5 |
A |
G |
3: 87,364,704 (GRCm39) |
E568G |
probably damaging |
Het |
Fmn2 |
C |
T |
1: 174,436,024 (GRCm39) |
|
probably benign |
Het |
Fut9 |
A |
G |
4: 25,619,744 (GRCm39) |
F357L |
possibly damaging |
Het |
Garre1 |
A |
T |
7: 33,947,631 (GRCm39) |
M459K |
probably damaging |
Het |
Gas2l1 |
G |
A |
11: 5,014,266 (GRCm39) |
H65Y |
probably damaging |
Het |
Gjd2 |
A |
T |
2: 113,843,614 (GRCm39) |
M1K |
probably null |
Het |
Hdgfl3 |
T |
C |
7: 81,549,432 (GRCm39) |
Y149C |
probably damaging |
Het |
Hmcn2 |
T |
C |
2: 31,244,733 (GRCm39) |
V730A |
probably damaging |
Het |
Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
Knl1 |
T |
A |
2: 118,902,219 (GRCm39) |
W1307R |
probably benign |
Het |
Kpna3 |
A |
G |
14: 61,624,926 (GRCm39) |
L139P |
probably damaging |
Het |
Lama3 |
T |
C |
18: 12,612,929 (GRCm39) |
|
probably null |
Het |
Lin54 |
G |
A |
5: 100,633,108 (GRCm39) |
P192L |
possibly damaging |
Het |
Lpo |
T |
A |
11: 87,700,018 (GRCm39) |
|
probably null |
Het |
Lrrc37 |
T |
A |
11: 103,507,897 (GRCm39) |
|
probably benign |
Het |
Lrrd1 |
T |
G |
5: 3,900,483 (GRCm39) |
|
probably null |
Het |
Nbas |
T |
A |
12: 13,610,978 (GRCm39) |
|
probably null |
Het |
Nemp1 |
G |
A |
10: 127,532,117 (GRCm39) |
G341D |
probably damaging |
Het |
Nrp1 |
T |
C |
8: 129,152,366 (GRCm39) |
F192L |
probably damaging |
Het |
Nufip2 |
T |
A |
11: 77,583,916 (GRCm39) |
V610E |
probably damaging |
Het |
Nup160 |
T |
G |
2: 90,530,780 (GRCm39) |
Y479* |
probably null |
Het |
Oas1d |
A |
T |
5: 121,058,025 (GRCm39) |
D323V |
possibly damaging |
Het |
Or10ak14 |
A |
G |
4: 118,610,797 (GRCm39) |
W315R |
possibly damaging |
Het |
Or14j1 |
A |
G |
17: 38,146,244 (GRCm39) |
D118G |
possibly damaging |
Het |
Or4c3d |
T |
C |
2: 89,882,128 (GRCm39) |
Y180C |
probably damaging |
Het |
Or52e4 |
C |
A |
7: 104,706,001 (GRCm39) |
H183N |
probably damaging |
Het |
Or5ac22 |
T |
A |
16: 59,135,069 (GRCm39) |
R234* |
probably null |
Het |
Or8b3 |
G |
A |
9: 38,314,550 (GRCm39) |
V127M |
possibly damaging |
Het |
Or8c9 |
A |
T |
9: 38,241,803 (GRCm39) |
T307S |
probably benign |
Het |
Pcm1 |
T |
A |
8: 41,766,396 (GRCm39) |
M1567K |
possibly damaging |
Het |
Pdxk |
A |
G |
10: 78,279,730 (GRCm39) |
V215A |
probably benign |
Het |
Phf12 |
T |
A |
11: 77,914,427 (GRCm39) |
L74Q |
probably damaging |
Het |
Plcg1 |
A |
G |
2: 160,595,663 (GRCm39) |
E537G |
probably null |
Het |
Plxna2 |
C |
T |
1: 194,326,678 (GRCm39) |
P204L |
possibly damaging |
Het |
Ppp3cb |
T |
G |
14: 20,574,131 (GRCm39) |
M236L |
probably benign |
Het |
Qrsl1 |
A |
T |
10: 43,772,026 (GRCm39) |
S55T |
probably damaging |
Het |
Rbm5 |
T |
C |
9: 107,621,112 (GRCm39) |
|
probably null |
Het |
Sipa1l2 |
A |
G |
8: 126,171,274 (GRCm39) |
S1403P |
probably damaging |
Het |
Sis |
C |
T |
3: 72,872,937 (GRCm39) |
C67Y |
probably damaging |
Het |
Specc1 |
A |
G |
11: 62,019,218 (GRCm39) |
I686V |
possibly damaging |
Het |
Speg |
G |
A |
1: 75,394,507 (GRCm39) |
E1739K |
probably benign |
Het |
Sprtn |
C |
A |
8: 125,628,372 (GRCm39) |
H154Q |
probably damaging |
Het |
St7l |
A |
G |
3: 104,778,303 (GRCm39) |
T147A |
probably benign |
Het |
Stab1 |
G |
A |
14: 30,867,985 (GRCm39) |
Q1630* |
probably null |
Het |
Stpg2 |
A |
G |
3: 138,937,960 (GRCm39) |
D173G |
probably benign |
Het |
Tcf20 |
G |
A |
15: 82,736,978 (GRCm39) |
T1491I |
probably benign |
Het |
Themis2 |
A |
T |
4: 132,516,960 (GRCm39) |
I180N |
possibly damaging |
Het |
Timd5 |
T |
C |
11: 46,417,121 (GRCm39) |
L13P |
probably damaging |
Het |
Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,638,340 (GRCm39) |
V13980A |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,575,978 (GRCm39) |
V24972M |
probably damaging |
Het |
Usp5 |
A |
T |
6: 124,800,423 (GRCm39) |
M286K |
possibly damaging |
Het |
Vmn2r22 |
G |
A |
6: 123,614,802 (GRCm39) |
R263C |
possibly damaging |
Het |
Vmn2r71 |
T |
G |
7: 85,270,435 (GRCm39) |
C534G |
probably damaging |
Het |
Wnk2 |
C |
T |
13: 49,214,202 (GRCm39) |
S1460N |
possibly damaging |
Het |
Zfp445 |
G |
A |
9: 122,681,707 (GRCm39) |
P745S |
probably damaging |
Het |
Zfp957 |
C |
T |
14: 79,451,436 (GRCm39) |
G121D |
probably damaging |
Het |
Zscan4f |
A |
G |
7: 11,135,254 (GRCm39) |
E220G |
possibly 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 |
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'- AAGCAGTGATGCCCAAAGGTCTC -3'
(R):5'- TGGTCAAACTCAAGTGTGCTGGAAG -3'
Sequencing Primer
(F):5'- AGGTTCTGATACCATCTCAGCAG -3'
(R):5'- TGCAGTTTACACAGCAAAGG -3'
|
Posted On |
2014-05-14 |