Incidental Mutation 'R7509:Inpp4a'
| ID |
581928 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inpp4a
|
| Ensembl Gene |
ENSMUSG00000026113 |
| Gene Name |
inositol polyphosphate-4-phosphatase, type I |
| Synonyms |
107kDa |
| MMRRC Submission |
045582-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
R7509 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
37338946-37449817 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37426911 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 624
(L624P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121107
(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 damaging
Transcript: ENSMUST00000027287
AA Change: L630P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027287
Gene: ENSMUSG00000026113
AA Change: L630P
| 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: L354P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000057233
Gene: ENSMUSG00000026113
AA Change: L354P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
651 |
673 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114933
AA Change: L365P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110583
Gene: ENSMUSG00000026113
AA Change: L365P
| 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: L663P
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000123071
Gene: ENSMUSG00000026113
AA Change: L663P
| 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: L629P
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000115249
Gene: ENSMUSG00000026113
AA Change: L629P
| 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: L629P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121518
Gene: ENSMUSG00000026113
AA Change: L629P
| 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: L668P
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000121803
Gene: ENSMUSG00000026113
AA Change: L668P
| 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 damaging
Transcript: ENSMUST00000140264
AA Change: L624P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121107
Gene: ENSMUSG00000026113
AA Change: L624P
| 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: L354P
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000130443
Gene: ENSMUSG00000026113
AA Change: L354P
| 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 |
0.8107 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (75/75) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm5 |
A |
G |
7: 119,133,611 (GRCm39) |
S259G |
probably benign |
Het |
| Adamts16 |
G |
T |
13: 70,935,283 (GRCm39) |
N436K |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 30,948,507 (GRCm39) |
M61K |
probably benign |
Het |
| Catspere2 |
A |
G |
1: 177,905,078 (GRCm39) |
T163A |
possibly damaging |
Het |
| Ccser2 |
A |
G |
14: 36,660,602 (GRCm39) |
L517P |
probably damaging |
Het |
| Cd226 |
A |
G |
18: 89,265,195 (GRCm39) |
T158A |
probably benign |
Het |
| Chd6 |
A |
T |
2: 160,855,074 (GRCm39) |
I778N |
probably damaging |
Het |
| Cnga4 |
T |
C |
7: 105,056,097 (GRCm39) |
V336A |
probably benign |
Het |
| Cpd |
C |
T |
11: 76,688,702 (GRCm39) |
V857I |
probably benign |
Het |
| Cpm |
A |
G |
10: 117,495,745 (GRCm39) |
Y78C |
probably damaging |
Het |
| Cst7 |
A |
T |
2: 150,419,624 (GRCm39) |
T97S |
probably benign |
Het |
| Cttnbp2nl |
T |
C |
3: 104,940,046 (GRCm39) |
K8E |
possibly damaging |
Het |
| Erbb4 |
A |
T |
1: 68,289,739 (GRCm39) |
D767E |
possibly damaging |
Het |
| Esyt2 |
T |
C |
12: 116,329,496 (GRCm39) |
S685P |
probably damaging |
Het |
| Fam110d |
A |
C |
4: 133,979,424 (GRCm39) |
V18G |
probably damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,930,256 (GRCm39) |
L641P |
probably damaging |
Het |
| Gcnt4 |
T |
A |
13: 97,083,678 (GRCm39) |
F325I |
probably benign |
Het |
| Glg1 |
T |
G |
8: 111,985,675 (GRCm39) |
S52R |
probably benign |
Het |
| Gm10577 |
G |
A |
4: 100,877,848 (GRCm39) |
L16F |
unknown |
Het |
| Gm14326 |
C |
T |
2: 177,587,493 (GRCm39) |
G501D |
probably benign |
Het |
| Gm1587 |
G |
A |
14: 78,034,464 (GRCm39) |
P35S |
unknown |
Het |
| Gpd1 |
G |
A |
15: 99,619,967 (GRCm39) |
S255N |
probably damaging |
Het |
| Helb |
T |
A |
10: 119,925,719 (GRCm39) |
H886L |
probably damaging |
Het |
| Hgsnat |
A |
G |
8: 26,445,754 (GRCm39) |
V380A |
probably damaging |
Het |
| Hmbs |
T |
A |
9: 44,248,208 (GRCm39) |
R125S |
|
Het |
| Hsd17b4 |
A |
T |
18: 50,297,749 (GRCm39) |
Y346F |
probably damaging |
Het |
| Irak2 |
AC |
ACC |
6: 113,667,859 (GRCm39) |
|
probably null |
Het |
| Itga11 |
C |
T |
9: 62,689,222 (GRCm39) |
T1129I |
probably benign |
Het |
| Itih4 |
G |
A |
14: 30,617,404 (GRCm39) |
V575I |
probably benign |
Het |
| Kcnn2 |
A |
G |
18: 45,816,187 (GRCm39) |
T473A |
probably benign |
Het |
| Kidins220 |
T |
C |
12: 25,032,360 (GRCm39) |
V31A |
probably damaging |
Het |
| Lrch1 |
G |
A |
14: 75,185,048 (GRCm39) |
T18I |
probably benign |
Het |
| Ly6e |
T |
C |
15: 74,830,135 (GRCm39) |
F30L |
probably damaging |
Het |
| Med13l |
A |
G |
5: 118,886,995 (GRCm39) |
D1632G |
probably damaging |
Het |
| Mei4 |
T |
A |
9: 81,907,630 (GRCm39) |
L320Q |
probably damaging |
Het |
| Mlip |
T |
G |
9: 77,088,678 (GRCm39) |
T197P |
probably damaging |
Het |
| Mon2 |
G |
A |
10: 122,868,457 (GRCm39) |
A532V |
probably benign |
Het |
| Myh1 |
C |
T |
11: 67,101,287 (GRCm39) |
P688S |
probably benign |
Het |
| Ncapg |
G |
A |
5: 45,853,450 (GRCm39) |
D900N |
probably benign |
Het |
| Neurl1b |
C |
G |
17: 26,657,720 (GRCm39) |
H219Q |
probably benign |
Het |
| Ntn4 |
A |
G |
10: 93,546,430 (GRCm39) |
N361S |
probably benign |
Het |
| Nudt16l1 |
T |
A |
16: 4,757,082 (GRCm39) |
H26Q |
probably damaging |
Het |
| Obscn |
G |
A |
11: 58,942,455 (GRCm39) |
T4348I |
probably benign |
Het |
| Or10d4b |
T |
A |
9: 39,534,623 (GRCm39) |
I66N |
probably damaging |
Het |
| Or8c20 |
T |
A |
9: 38,260,868 (GRCm39) |
M157K |
probably benign |
Het |
| Pcdh7 |
T |
A |
5: 57,877,529 (GRCm39) |
D361E |
probably damaging |
Het |
| Pcdhb7 |
C |
A |
18: 37,475,074 (GRCm39) |
T70K |
possibly damaging |
Het |
| Pcdhga3 |
T |
A |
18: 37,808,910 (GRCm39) |
Y454* |
probably null |
Het |
| Pigc |
A |
T |
1: 161,798,545 (GRCm39) |
T176S |
probably benign |
Het |
| Pola2 |
A |
T |
19: 6,011,194 (GRCm39) |
S43R |
probably benign |
Het |
| Pole |
A |
T |
5: 110,478,571 (GRCm39) |
|
probably benign |
Het |
| Polq |
C |
A |
16: 36,880,705 (GRCm39) |
D956E |
probably benign |
Het |
| Polq |
T |
A |
16: 36,880,706 (GRCm39) |
C957S |
probably benign |
Het |
| Ppp3cc |
G |
A |
14: 70,504,131 (GRCm39) |
T107I |
probably damaging |
Het |
| Prss39 |
C |
A |
1: 34,539,280 (GRCm39) |
H173Q |
possibly damaging |
Het |
| Reep4 |
A |
G |
14: 70,785,928 (GRCm39) |
D256G |
probably benign |
Het |
| Rfc3 |
A |
G |
5: 151,570,975 (GRCm39) |
V107A |
probably damaging |
Het |
| Slc19a3 |
A |
G |
1: 83,003,981 (GRCm39) |
L40P |
probably damaging |
Het |
| Slc29a4 |
C |
T |
5: 142,704,261 (GRCm39) |
P305L |
probably benign |
Het |
| Strada |
C |
A |
11: 106,077,920 (GRCm39) |
V15F |
unknown |
Het |
| Suco |
A |
T |
1: 161,672,903 (GRCm39) |
S440T |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,090,683 (GRCm39) |
C1595S |
probably benign |
Het |
| Synpo |
G |
T |
18: 60,736,566 (GRCm39) |
T460K |
probably damaging |
Het |
| Tagap |
A |
T |
17: 8,147,568 (GRCm39) |
I93F |
probably damaging |
Het |
| Tmtc3 |
A |
T |
10: 100,301,956 (GRCm39) |
F331Y |
probably damaging |
Het |
| Tnpo1 |
A |
C |
13: 99,006,751 (GRCm39) |
I225M |
probably benign |
Het |
| Tollip |
A |
T |
7: 141,445,878 (GRCm39) |
M70K |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,691,842 (GRCm39) |
I171N |
probably damaging |
Het |
| Ttc41 |
G |
T |
10: 86,549,296 (GRCm39) |
E163D |
probably damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,575,695 (GRCm39) |
T189S |
probably benign |
Het |
| Vmn2r20 |
C |
T |
6: 123,362,382 (GRCm39) |
V801I |
probably benign |
Het |
| Vmn2r82 |
G |
A |
10: 79,231,842 (GRCm39) |
V614I |
possibly damaging |
Het |
| Vmn2r96 |
G |
A |
17: 18,802,995 (GRCm39) |
E302K |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,619,132 (GRCm39) |
F1270S |
|
Het |
| Wdr3 |
A |
T |
3: 100,058,503 (GRCm39) |
F367L |
probably benign |
Het |
| Zfp592 |
A |
G |
7: 80,688,088 (GRCm39) |
S1005G |
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 |
|
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 |
|
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'- CTTCTGAATGCTAACAAGCCTC -3'
(R):5'- TCCTGTGCCTCTCTAAGTAAAC -3'
Sequencing Primer
(F):5'- CTCGCTCATGTGCAGGTGAG -3'
(R):5'- TCTACAGAGTGAGTTCCAGGACATC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation