Incidental Mutation 'R6992:Inpp4a'
| ID |
543882 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inpp4a
|
| Ensembl Gene |
ENSMUSG00000026113 |
| Gene Name |
inositol polyphosphate-4-phosphatase, type I |
| Synonyms |
107kDa |
| MMRRC Submission |
045098-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R6992 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
37338946-37449817 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37428772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 699
(M699L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027287
(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: M699L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027287
Gene: ENSMUSG00000026113
AA Change: M699L
| 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: M423L
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000057233
Gene: ENSMUSG00000026113
AA Change: M423L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
651 |
673 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114933
AA Change: M434L
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110583
Gene: ENSMUSG00000026113
AA Change: M434L
| 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: M732L
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000123071
Gene: ENSMUSG00000026113
AA Change: M732L
| 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: M698L
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000115249
Gene: ENSMUSG00000026113
AA Change: M698L
| 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: M698L
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000121518
Gene: ENSMUSG00000026113
AA Change: M698L
| 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: M737L
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000121803
Gene: ENSMUSG00000026113
AA Change: M737L
| 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 benign
Transcript: ENSMUST00000140264
AA Change: M693L
PolyPhen 2
Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000121107
Gene: ENSMUSG00000026113
AA Change: M693L
| 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: M423L
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000130443
Gene: ENSMUSG00000026113
AA Change: M423L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (64/64) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
C |
T |
4: 103,099,990 (GRCm39) |
S171N |
possibly damaging |
Het |
| 6030468B19Rik |
T |
G |
11: 117,688,594 (GRCm39) |
M1R |
probably null |
Het |
| A730049H05Rik |
T |
C |
6: 92,804,975 (GRCm39) |
|
probably benign |
Het |
| AC125199.3 |
G |
T |
16: 88,608,915 (GRCm39) |
H52Q |
possibly damaging |
Het |
| Adam34 |
A |
T |
8: 44,105,642 (GRCm39) |
M1K |
probably null |
Het |
| Adgrf5 |
T |
C |
17: 43,763,214 (GRCm39) |
|
probably null |
Het |
| Antxr2 |
T |
C |
5: 98,108,564 (GRCm39) |
T316A |
probably benign |
Het |
| Cc2d1a |
A |
T |
8: 84,861,542 (GRCm39) |
V714D |
probably damaging |
Het |
| Cd96 |
A |
G |
16: 45,870,087 (GRCm39) |
S461P |
possibly damaging |
Het |
| Cdc16 |
C |
A |
8: 13,809,188 (GRCm39) |
A51E |
probably benign |
Het |
| Chd4 |
T |
A |
6: 125,091,339 (GRCm39) |
D1243E |
probably benign |
Het |
| Cntf |
A |
T |
19: 12,742,697 (GRCm39) |
I21N |
probably damaging |
Het |
| Col11a2 |
C |
T |
17: 34,266,118 (GRCm39) |
A282V |
probably benign |
Het |
| Col14a1 |
T |
A |
15: 55,274,958 (GRCm39) |
|
probably null |
Het |
| Cyp2b9 |
T |
C |
7: 25,900,564 (GRCm39) |
Y401H |
probably benign |
Het |
| Dlgap4 |
A |
G |
2: 156,590,860 (GRCm39) |
|
probably null |
Het |
| Fancd2 |
T |
C |
6: 113,547,979 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
T |
A |
7: 27,839,608 (GRCm39) |
F474I |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,858,599 (GRCm39) |
V1622A |
possibly damaging |
Het |
| Golm1 |
ACTTCTTCT |
ACTTCT |
13: 59,797,390 (GRCm39) |
|
probably benign |
Het |
| Gstm4 |
A |
G |
3: 107,951,981 (GRCm39) |
M3T |
possibly damaging |
Het |
| Hdac10 |
T |
C |
15: 89,009,534 (GRCm39) |
D466G |
probably benign |
Het |
| Hook2 |
A |
G |
8: 85,729,185 (GRCm39) |
E625G |
probably damaging |
Het |
| Hspbp1 |
G |
C |
7: 4,667,714 (GRCm39) |
P260A |
probably benign |
Het |
| Igdcc3 |
C |
A |
9: 65,088,853 (GRCm39) |
Q411K |
probably damaging |
Het |
| Il18rap |
G |
A |
1: 40,581,195 (GRCm39) |
E356K |
probably benign |
Het |
| Klhdc1 |
A |
G |
12: 69,300,531 (GRCm39) |
H157R |
probably damaging |
Het |
| Klhl6 |
G |
T |
16: 19,772,337 (GRCm39) |
T336N |
probably damaging |
Het |
| Marchf7 |
T |
C |
2: 60,059,428 (GRCm39) |
|
probably null |
Het |
| Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
| Mlh3 |
T |
A |
12: 85,282,494 (GRCm39) |
N1412Y |
probably damaging |
Het |
| Mrps27 |
A |
G |
13: 99,541,522 (GRCm39) |
M209V |
probably benign |
Het |
| Mtor |
A |
T |
4: 148,548,932 (GRCm39) |
T572S |
probably benign |
Het |
| Neurog1 |
T |
C |
13: 56,399,363 (GRCm39) |
K128R |
probably damaging |
Het |
| Or10g6 |
T |
A |
9: 39,933,896 (GRCm39) |
L69* |
probably null |
Het |
| Or2b4 |
T |
A |
17: 38,116,754 (GRCm39) |
N239K |
probably damaging |
Het |
| Or5b122 |
A |
G |
19: 13,562,811 (GRCm39) |
I48V |
possibly damaging |
Het |
| Pcdhgb1 |
A |
G |
18: 37,814,652 (GRCm39) |
K381R |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,457,945 (GRCm39) |
D306G |
probably damaging |
Het |
| Plekha5 |
C |
T |
6: 140,489,634 (GRCm39) |
T237I |
probably damaging |
Het |
| Plscr1l1 |
T |
C |
9: 92,236,725 (GRCm39) |
M128T |
probably benign |
Het |
| Pole |
A |
T |
5: 110,480,365 (GRCm39) |
I103F |
probably damaging |
Het |
| Ppfia2 |
A |
T |
10: 106,310,715 (GRCm39) |
Q74L |
possibly damaging |
Het |
| Ppm1d |
T |
C |
11: 85,223,178 (GRCm39) |
F261S |
probably damaging |
Het |
| Psg21 |
A |
T |
7: 18,388,668 (GRCm39) |
|
probably null |
Het |
| Ptprg |
T |
A |
14: 11,962,602 (GRCm38) |
F133L |
probably damaging |
Het |
| Rom1 |
G |
A |
19: 8,906,569 (GRCm39) |
|
probably benign |
Het |
| Rtn3 |
A |
G |
19: 7,412,489 (GRCm39) |
F762L |
probably damaging |
Het |
| Sec23ip |
T |
C |
7: 128,367,164 (GRCm39) |
S600P |
probably benign |
Het |
| Sema4b |
T |
A |
7: 79,869,900 (GRCm39) |
I396N |
probably damaging |
Het |
| Serpina3k |
T |
A |
12: 104,307,366 (GRCm39) |
D199E |
probably benign |
Het |
| Slc19a1 |
A |
G |
10: 76,885,540 (GRCm39) |
D480G |
possibly damaging |
Het |
| Slc8b1 |
G |
A |
5: 120,665,880 (GRCm39) |
V404M |
probably damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,765,330 (GRCm39) |
D304G |
probably benign |
Het |
| Smpdl3b |
G |
T |
4: 132,472,452 (GRCm39) |
A107D |
possibly damaging |
Het |
| Tesk1 |
A |
G |
4: 43,447,006 (GRCm39) |
T465A |
probably benign |
Het |
| Tmem245 |
A |
G |
4: 56,937,940 (GRCm39) |
F203L |
probably benign |
Het |
| Tnip1 |
T |
A |
11: 54,809,542 (GRCm39) |
I442F |
probably benign |
Het |
| Txnip |
A |
G |
3: 96,466,439 (GRCm39) |
K127R |
possibly damaging |
Het |
| Usp32 |
A |
C |
11: 84,922,914 (GRCm39) |
L172R |
probably damaging |
Het |
| Vmn2r66 |
A |
G |
7: 84,654,436 (GRCm39) |
S508P |
possibly damaging |
Het |
| Vwa5b2 |
T |
A |
16: 20,416,952 (GRCm39) |
Y550N |
probably damaging |
Het |
| Wdr81 |
G |
A |
11: 75,342,612 (GRCm39) |
A885V |
probably benign |
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 |
|
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'- TCTGTGCATAGGAAGCTTGAG -3'
(R):5'- CTGGGAAGGCTATATGCAATGC -3'
Sequencing Primer
(F):5'- GTTTCTGCAGCCACATCGG -3'
(R):5'- GGCTATATGCAATGCTCTAAAGG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation