Incidental Mutation 'R6434:Inpp4a'
| ID |
518673 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inpp4a
|
| Ensembl Gene |
ENSMUSG00000026113 |
| Gene Name |
inositol polyphosphate-4-phosphatase, type I |
| Synonyms |
107kDa |
| MMRRC Submission |
044572-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R6434 (G1)
|
| Quality Score |
150.008 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
37338946-37449817 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37437919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 593
(T593A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130443
(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: T869A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027287
Gene: ENSMUSG00000026113
AA Change: T869A
| 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: T593A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000057233
Gene: ENSMUSG00000026113
AA Change: T593A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
651 |
673 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114933
AA Change: T604A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110583
Gene: ENSMUSG00000026113
AA Change: T604A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
300 |
325 |
N/A |
INTRINSIC |
|
transmembrane domain
|
662 |
684 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132401
AA Change: T902A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123071
Gene: ENSMUSG00000026113
AA Change: T902A
| 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: T868A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115249
Gene: ENSMUSG00000026113
AA Change: T868A
| 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: T868A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121518
Gene: ENSMUSG00000026113
AA Change: T868A
| 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: T907A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121803
Gene: ENSMUSG00000026113
AA Change: T907A
| 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: T863A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121107
Gene: ENSMUSG00000026113
AA Change: T863A
| 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: ENSMUST00000168546
AA Change: T593A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130443
Gene: ENSMUSG00000026113
AA Change: T593A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
651 |
673 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193774
AA Change: T236A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142118
Gene: ENSMUSG00000026113
AA Change: T236A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:C2
|
45 |
87 |
7e-13 |
BLAST |
|
| Meta Mutation Damage Score |
0.7383 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
98% (57/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alcam |
A |
C |
16: 52,109,190 (GRCm39) |
|
probably null |
Het |
| Ankle2 |
A |
G |
5: 110,401,759 (GRCm39) |
Y807C |
probably damaging |
Het |
| Arhgef26 |
A |
C |
3: 62,336,335 (GRCm39) |
M625L |
probably damaging |
Het |
| Aspdh |
G |
A |
7: 44,116,474 (GRCm39) |
A86T |
probably damaging |
Het |
| Atl1 |
G |
T |
12: 70,006,199 (GRCm39) |
E502* |
probably null |
Het |
| Atp6v1c1 |
T |
C |
15: 38,677,790 (GRCm39) |
F105S |
probably damaging |
Het |
| Auh |
C |
A |
13: 53,083,446 (GRCm39) |
G17C |
probably benign |
Het |
| Ccdc81 |
T |
C |
7: 89,525,352 (GRCm39) |
Y474C |
probably damaging |
Het |
| Ccdc82 |
T |
C |
9: 13,251,659 (GRCm39) |
|
probably benign |
Het |
| Ccdc96 |
T |
G |
5: 36,643,707 (GRCm39) |
V571G |
probably damaging |
Het |
| Col6a5 |
C |
A |
9: 105,814,544 (GRCm39) |
E489D |
unknown |
Het |
| Dchs2 |
T |
A |
3: 83,176,577 (GRCm39) |
I845N |
probably damaging |
Het |
| Dnajc11 |
T |
C |
4: 152,063,751 (GRCm39) |
V449A |
probably damaging |
Het |
| Ect2 |
A |
T |
3: 27,193,268 (GRCm39) |
Y269* |
probably null |
Het |
| Egfr |
T |
C |
11: 16,819,294 (GRCm39) |
Y275H |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,004,129 (GRCm39) |
D779V |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,123,942 (GRCm39) |
V200A |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,884,253 (GRCm39) |
I1214T |
probably benign |
Het |
| Gm3415 |
T |
A |
5: 146,494,752 (GRCm39) |
F138L |
probably benign |
Het |
| Gtse1 |
C |
A |
15: 85,759,370 (GRCm39) |
T626K |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,393,464 (GRCm39) |
H4114Q |
probably damaging |
Het |
| Ifi44 |
T |
A |
3: 151,454,826 (GRCm39) |
N133I |
probably benign |
Het |
| Ilf3 |
A |
G |
9: 21,314,447 (GRCm39) |
|
probably benign |
Het |
| Iqgap2 |
A |
T |
13: 95,819,441 (GRCm39) |
W634R |
possibly damaging |
Het |
| Kcnh4 |
T |
A |
11: 100,641,105 (GRCm39) |
N448I |
probably damaging |
Het |
| Klhl33 |
G |
A |
14: 51,130,564 (GRCm39) |
A310V |
probably damaging |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Lrig2 |
T |
C |
3: 104,398,863 (GRCm39) |
K222E |
possibly damaging |
Het |
| Manba |
G |
A |
3: 135,217,734 (GRCm39) |
|
probably null |
Het |
| Mga |
A |
T |
2: 119,754,419 (GRCm39) |
Q976L |
probably damaging |
Het |
| Mtmr4 |
A |
G |
11: 87,504,309 (GRCm39) |
D1086G |
probably damaging |
Het |
| Muc20 |
A |
G |
16: 32,615,176 (GRCm39) |
V67A |
probably benign |
Het |
| Myh3 |
T |
A |
11: 66,973,193 (GRCm39) |
L97Q |
probably damaging |
Het |
| Nars1 |
T |
C |
18: 64,640,872 (GRCm39) |
T195A |
probably benign |
Het |
| Npat |
A |
T |
9: 53,474,739 (GRCm39) |
I844L |
possibly damaging |
Het |
| Nrxn3 |
T |
C |
12: 88,762,285 (GRCm39) |
F111L |
probably benign |
Het |
| Obp2b |
T |
C |
2: 25,628,599 (GRCm39) |
Y118H |
probably damaging |
Het |
| Or5w1 |
T |
A |
2: 87,486,558 (GRCm39) |
K236* |
probably null |
Het |
| Or7e170 |
A |
T |
9: 19,795,141 (GRCm39) |
Y153* |
probably null |
Het |
| Patj |
A |
G |
4: 98,379,866 (GRCm39) |
D215G |
probably damaging |
Het |
| Pex1 |
T |
A |
5: 3,680,196 (GRCm39) |
Y979* |
probably null |
Het |
| Septin3 |
G |
A |
15: 82,163,804 (GRCm39) |
V54I |
possibly damaging |
Het |
| Shc3 |
A |
G |
13: 51,603,326 (GRCm39) |
Y260H |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,674,477 (GRCm39) |
T942A |
probably benign |
Het |
| Slco1c1 |
T |
C |
6: 141,493,576 (GRCm39) |
S371P |
probably damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,080,574 (GRCm39) |
I2029N |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,268,422 (GRCm39) |
V2089A |
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,088,230 (GRCm39) |
S5016P |
probably damaging |
Het |
| Tril |
G |
C |
6: 53,795,493 (GRCm39) |
D576E |
probably damaging |
Het |
| Tubb2b |
C |
T |
13: 34,311,561 (GRCm39) |
A411T |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,156,949 (GRCm39) |
Y2325H |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,608,395 (GRCm39) |
C1547* |
probably null |
Het |
| Utrn |
A |
T |
10: 12,401,171 (GRCm39) |
W98R |
probably damaging |
Het |
| Vps35 |
C |
T |
8: 86,000,124 (GRCm39) |
D501N |
possibly damaging |
Het |
| Wdr48 |
T |
C |
9: 119,745,879 (GRCm39) |
S421P |
possibly damaging |
Het |
| Yju2b |
A |
G |
8: 84,989,630 (GRCm39) |
I63T |
probably damaging |
Het |
| Zfp719 |
C |
A |
7: 43,240,412 (GRCm39) |
H667N |
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 |
|
|
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'- CAGTCAGGCTAGGAATAGGC -3'
(R):5'- ACTCAAGTGTGCTGGAAGTCTG -3'
Sequencing Primer
(F):5'- ATTATTTTATTGTTGGTGTTCCTGCC -3'
(R):5'- AAGTCTGGGCCCCATGTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation