Incidental Mutation 'R7654:Inpp4a'
| ID |
628227 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inpp4a
|
| Ensembl Gene |
ENSMUSG00000026113 |
| Gene Name |
inositol polyphosphate-4-phosphatase, type I |
| Synonyms |
107kDa |
| MMRRC Submission |
045702-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R7654 (G1)
|
| Quality Score |
119.008 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
37338946-37449817 bp(+) (GRCm39) |
| Type of Mutation |
splice site (9909 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 37413179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142118
(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 benign
Transcript: ENSMUST00000027287
|
| SMART Domains |
Protein: ENSMUSP00000027287
Gene: ENSMUSG00000026113
| 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 benign
Transcript: ENSMUST00000058307
|
| SMART Domains |
Protein: ENSMUSP00000057233
Gene: ENSMUSG00000026113
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
651 |
673 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114933
|
| SMART Domains |
Protein: ENSMUSP00000110583
Gene: ENSMUSG00000026113
| 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
|
| SMART Domains |
Protein: ENSMUSP00000123071
Gene: ENSMUSG00000026113
| 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
|
| SMART Domains |
Protein: ENSMUSP00000115249
Gene: ENSMUSG00000026113
| 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 benign
Transcript: ENSMUST00000136846
|
| SMART Domains |
Protein: ENSMUSP00000121518
Gene: ENSMUSG00000026113
| 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
|
| SMART Domains |
Protein: ENSMUSP00000121803
Gene: ENSMUSG00000026113
| 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
|
| SMART Domains |
Protein: ENSMUSP00000121107
Gene: ENSMUSG00000026113
| 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
|
| SMART Domains |
Protein: ENSMUSP00000130443
Gene: ENSMUSG00000026113
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
651 |
673 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
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% (76/76) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
A |
19: 43,815,032 (GRCm39) |
V1140M |
possibly damaging |
Het |
| Adamtsl3 |
A |
C |
7: 82,223,702 (GRCm39) |
E1161A |
probably benign |
Het |
| Adcy5 |
T |
C |
16: 35,091,317 (GRCm39) |
S587P |
probably damaging |
Het |
| Aebp2 |
T |
A |
6: 140,599,474 (GRCm39) |
|
probably null |
Het |
| Alb |
G |
C |
5: 90,615,214 (GRCm39) |
R242P |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,727,154 (GRCm39) |
V423A |
probably damaging |
Het |
| Arid1b |
T |
A |
17: 5,341,360 (GRCm39) |
M888K |
possibly damaging |
Het |
| Asl |
C |
A |
5: 130,047,231 (GRCm39) |
R122S |
probably damaging |
Het |
| B3gntl1 |
T |
A |
11: 121,542,439 (GRCm39) |
D109V |
probably damaging |
Het |
| Cat |
G |
A |
2: 103,290,709 (GRCm39) |
P402S |
probably damaging |
Het |
| Ccdc141 |
A |
T |
2: 76,872,822 (GRCm39) |
Y787N |
probably benign |
Het |
| Ccdc78 |
T |
C |
17: 26,009,085 (GRCm39) |
Y405H |
probably damaging |
Het |
| Ces1f |
T |
G |
8: 93,998,562 (GRCm39) |
K145Q |
probably benign |
Het |
| Cfap65 |
A |
T |
1: 74,972,303 (GRCm39) |
C19S |
probably benign |
Het |
| CN725425 |
T |
A |
15: 91,123,638 (GRCm39) |
I118N |
probably benign |
Het |
| Ctc1 |
C |
T |
11: 68,917,041 (GRCm39) |
P312S |
probably damaging |
Het |
| Ctsa |
C |
T |
2: 164,680,853 (GRCm39) |
T442I |
probably benign |
Het |
| Cyp2b9 |
A |
G |
7: 25,886,367 (GRCm39) |
T131A |
possibly damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,154,636 (GRCm39) |
M1181T |
probably damaging |
Het |
| Dagla |
C |
G |
19: 10,225,570 (GRCm39) |
G865R |
probably benign |
Het |
| Dst |
A |
C |
1: 34,268,058 (GRCm39) |
K3153Q |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,268,059 (GRCm39) |
K3153M |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,122,664 (GRCm39) |
H2097Q |
probably damaging |
Het |
| Etnppl |
A |
G |
3: 130,423,160 (GRCm39) |
I286M |
probably benign |
Het |
| Flvcr1 |
A |
T |
1: 190,743,802 (GRCm39) |
M418K |
possibly damaging |
Het |
| Fuca1 |
T |
C |
4: 135,657,232 (GRCm39) |
S215P |
probably damaging |
Het |
| Gabrg1 |
T |
C |
5: 70,935,504 (GRCm39) |
K222E |
probably benign |
Het |
| Gdpd5 |
G |
A |
7: 99,073,396 (GRCm39) |
R26H |
probably damaging |
Het |
| Gnptab |
T |
A |
10: 88,281,681 (GRCm39) |
S1229R |
possibly damaging |
Het |
| Gpt |
A |
G |
15: 76,582,530 (GRCm39) |
E256G |
probably benign |
Het |
| Hif3a |
C |
T |
7: 16,783,021 (GRCm39) |
V261I |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,236,581 (GRCm39) |
T375A |
probably benign |
Het |
| Hspa4 |
C |
A |
11: 53,190,951 (GRCm39) |
V15F |
probably damaging |
Het |
| Il18 |
A |
G |
9: 50,490,701 (GRCm39) |
N112S |
possibly damaging |
Het |
| Knop1 |
A |
G |
7: 118,445,032 (GRCm39) |
S525P |
unknown |
Het |
| Leo1 |
A |
T |
9: 75,362,961 (GRCm39) |
Y461F |
possibly damaging |
Het |
| Med1 |
C |
T |
11: 98,060,189 (GRCm39) |
V247I |
possibly damaging |
Het |
| Mpnd |
T |
G |
17: 56,317,489 (GRCm39) |
H159Q |
probably benign |
Het |
| Msl1 |
A |
G |
11: 98,686,937 (GRCm39) |
E94G |
possibly damaging |
Het |
| Mthfd2l |
A |
T |
5: 91,094,665 (GRCm39) |
I45F |
probably damaging |
Het |
| Neurl1b |
T |
A |
17: 26,657,671 (GRCm39) |
L203Q |
probably benign |
Het |
| Or5m12 |
G |
T |
2: 85,734,663 (GRCm39) |
T245N |
possibly damaging |
Het |
| Otoa |
T |
G |
7: 120,746,923 (GRCm39) |
L896R |
probably damaging |
Het |
| Pcdhac2 |
T |
A |
18: 37,278,076 (GRCm39) |
V352E |
probably damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,434,168 (GRCm39) |
K1400I |
possibly damaging |
Het |
| Pcx |
T |
A |
19: 4,565,697 (GRCm39) |
|
probably null |
Het |
| Pds5a |
A |
G |
5: 65,776,324 (GRCm39) |
V90A |
probably damaging |
Het |
| Pgam2 |
T |
C |
11: 5,753,351 (GRCm39) |
K113R |
probably null |
Het |
| Phkb |
G |
T |
8: 86,667,516 (GRCm39) |
R266L |
possibly damaging |
Het |
| Phtf2 |
A |
G |
5: 20,987,459 (GRCm39) |
S346P |
probably damaging |
Het |
| Pkd1l3 |
G |
A |
8: 110,365,049 (GRCm39) |
A1144T |
probably damaging |
Het |
| Plbd1 |
T |
C |
6: 136,628,864 (GRCm39) |
Y68C |
possibly damaging |
Het |
| Polk |
T |
C |
13: 96,633,321 (GRCm39) |
T241A |
probably benign |
Het |
| Ppfibp2 |
T |
A |
7: 107,337,818 (GRCm39) |
D635E |
probably damaging |
Het |
| Ppip5k1 |
G |
A |
2: 121,179,040 (GRCm39) |
R229W |
probably damaging |
Het |
| Ptpn20 |
A |
G |
14: 33,360,281 (GRCm39) |
D386G |
probably benign |
Het |
| Rab22a |
T |
C |
2: 173,529,968 (GRCm39) |
Y49H |
probably benign |
Het |
| Rab3gap1 |
A |
G |
1: 127,837,652 (GRCm39) |
D238G |
probably damaging |
Het |
| Rbp3 |
T |
C |
14: 33,677,797 (GRCm39) |
S582P |
probably benign |
Het |
| Rcbtb2 |
T |
C |
14: 73,411,941 (GRCm39) |
V410A |
probably benign |
Het |
| Sh3rf2 |
A |
G |
18: 42,237,173 (GRCm39) |
E232G |
probably damaging |
Het |
| Shroom1 |
T |
A |
11: 53,357,735 (GRCm39) |
V762E |
probably benign |
Het |
| Speer4f2 |
A |
T |
5: 17,579,413 (GRCm39) |
M71L |
|
Het |
| Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,224,826 (GRCm39) |
|
probably benign |
Het |
| Tgfb1 |
A |
T |
7: 25,387,120 (GRCm39) |
|
probably benign |
Het |
| Tnik |
C |
T |
3: 28,658,334 (GRCm39) |
R540C |
probably damaging |
Het |
| Tti1 |
A |
T |
2: 157,850,474 (GRCm39) |
I255N |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,727,490 (GRCm39) |
S5739G |
unknown |
Het |
| Umad1 |
G |
A |
6: 8,426,995 (GRCm39) |
V57M |
probably damaging |
Het |
| Usp30 |
T |
A |
5: 114,240,506 (GRCm39) |
I49N |
probably damaging |
Het |
| Usp7 |
G |
A |
16: 8,519,907 (GRCm39) |
T398I |
probably benign |
Het |
| Vmn2r65 |
A |
G |
7: 84,590,261 (GRCm39) |
Y552H |
probably damaging |
Het |
| Zfp616 |
A |
G |
11: 73,974,013 (GRCm39) |
N185S |
possibly damaging |
Het |
| Zfp804b |
T |
A |
5: 6,819,458 (GRCm39) |
T1202S |
probably damaging |
Het |
| Zfyve28 |
A |
T |
5: 34,400,539 (GRCm39) |
V53D |
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 |
|
R7509:Inpp4a
|
UTSW |
1 |
37,426,911 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- AGCTGGTTTCCCAATGCCTC -3'
(R):5'- GCACAGGCTTTCTCTACACAAG -3'
Sequencing Primer
(F):5'- CAATGCCTCTGTGGTCTTTCAGG -3'
(R):5'- AAGGCTGACTGGCATTT -3'
|
| Posted On |
2020-02-11 |
Incidental Mutation