Incidental Mutation 'R6283:Inpp4b'
ID |
508055 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inpp4b
|
Ensembl Gene |
ENSMUSG00000037940 |
Gene Name |
inositol polyphosphate-4-phosphatase, type II |
Synonyms |
E130107I17Rik |
MMRRC Submission |
044453-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.230)
|
Stock # |
R6283 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
82069185-82854543 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 82497462 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 94
(T94M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150541
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042529]
[ENSMUST00000109852]
[ENSMUST00000169116]
[ENSMUST00000169387]
[ENSMUST00000170160]
[ENSMUST00000172031]
[ENSMUST00000213285]
[ENSMUST00000215332]
[ENSMUST00000217122]
|
AlphaFold |
Q6P1Y8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042529
AA Change: T94M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044466 Gene: ENSMUSG00000037940 AA Change: T94M
Domain | Start | End | E-Value | Type |
C2
|
40 |
147 |
1.72e0 |
SMART |
low complexity region
|
302 |
319 |
N/A |
INTRINSIC |
low complexity region
|
425 |
434 |
N/A |
INTRINSIC |
transmembrane domain
|
898 |
920 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109852
AA Change: T94M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105478 Gene: ENSMUSG00000037940 AA Change: T94M
Domain | Start | End | E-Value | Type |
C2
|
40 |
164 |
5.29e0 |
SMART |
low complexity region
|
319 |
336 |
N/A |
INTRINSIC |
low complexity region
|
442 |
451 |
N/A |
INTRINSIC |
transmembrane domain
|
915 |
937 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164870
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169116
AA Change: T94M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131947 Gene: ENSMUSG00000037940 AA Change: T94M
Domain | Start | End | E-Value | Type |
C2
|
40 |
164 |
5.29e0 |
SMART |
low complexity region
|
319 |
336 |
N/A |
INTRINSIC |
low complexity region
|
442 |
451 |
N/A |
INTRINSIC |
|
Predicted Effect |
silent
Transcript: ENSMUST00000169387
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170160
|
SMART Domains |
Protein: ENSMUSP00000132156 Gene: ENSMUSG00000037940
Domain | Start | End | E-Value | Type |
low complexity region
|
134 |
151 |
N/A |
INTRINSIC |
low complexity region
|
257 |
266 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172031
AA Change: T94M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131324 Gene: ENSMUSG00000037940 AA Change: T94M
Domain | Start | End | E-Value | Type |
C2
|
40 |
164 |
5.29e0 |
SMART |
low complexity region
|
319 |
336 |
N/A |
INTRINSIC |
low complexity region
|
442 |
451 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000213285
AA Change: T94M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000215332
AA Change: T94M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217122
AA Change: T94M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216036
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
Validation Efficiency |
100% (59/59) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate. There is limited data to suggest that the human type II enzyme is subject to alternative splicing, as has been established for the type I enzyme. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit osteoporosis, reduced long bone length, increased osteoclast numbers and size, increased osteoblast numbers, and increased bone resorption and resorption. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsf3 |
C |
A |
8: 123,512,694 (GRCm39) |
R372S |
probably damaging |
Het |
Adamts20 |
A |
G |
15: 94,249,602 (GRCm39) |
S472P |
probably benign |
Het |
Bhlhe40 |
T |
C |
6: 108,641,992 (GRCm39) |
L312P |
probably damaging |
Het |
Ccdc180 |
A |
G |
4: 45,902,486 (GRCm39) |
E305G |
possibly damaging |
Het |
Ccdc83 |
T |
A |
7: 89,885,615 (GRCm39) |
R257* |
probably null |
Het |
Cd209e |
G |
A |
8: 3,899,212 (GRCm39) |
Q167* |
probably null |
Het |
Cd300e |
G |
A |
11: 114,945,380 (GRCm39) |
T138I |
probably benign |
Het |
Ces2c |
A |
T |
8: 105,576,331 (GRCm39) |
M115L |
probably benign |
Het |
Cfap61 |
T |
A |
2: 145,971,022 (GRCm39) |
|
probably null |
Het |
Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
Cic |
C |
T |
7: 24,985,459 (GRCm39) |
S301L |
probably damaging |
Het |
Cks2 |
A |
G |
13: 51,799,495 (GRCm39) |
H16R |
probably benign |
Het |
Copa |
A |
T |
1: 171,946,415 (GRCm39) |
H953L |
possibly damaging |
Het |
Ctdsp2 |
T |
C |
10: 126,831,749 (GRCm39) |
V145A |
possibly damaging |
Het |
Cyp2j13 |
A |
G |
4: 95,945,074 (GRCm39) |
V377A |
possibly damaging |
Het |
Dhx57 |
A |
G |
17: 80,582,234 (GRCm39) |
V404A |
probably benign |
Het |
Dock2 |
T |
C |
11: 34,598,152 (GRCm39) |
S340G |
probably damaging |
Het |
Ggps1 |
A |
G |
13: 14,232,379 (GRCm39) |
|
probably null |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gm11444 |
T |
C |
11: 85,737,617 (GRCm39) |
|
probably null |
Het |
Grina |
A |
G |
15: 76,132,751 (GRCm39) |
T173A |
possibly damaging |
Het |
Hcrtr1 |
G |
A |
4: 130,029,133 (GRCm39) |
T223I |
probably benign |
Het |
Igsf10 |
T |
A |
3: 59,226,870 (GRCm39) |
T2268S |
probably damaging |
Het |
Inhca |
G |
A |
9: 103,159,834 (GRCm39) |
R14* |
probably null |
Het |
Ino80d |
C |
T |
1: 63,101,285 (GRCm39) |
R447Q |
probably damaging |
Het |
Itga2 |
A |
G |
13: 115,005,786 (GRCm39) |
Y465H |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,900,767 (GRCm39) |
T823A |
probably damaging |
Het |
Krtap4-16 |
A |
G |
11: 99,741,861 (GRCm39) |
S180P |
unknown |
Het |
Ldc1 |
A |
G |
4: 130,115,534 (GRCm39) |
S5P |
probably benign |
Het |
Lpar6 |
A |
T |
14: 73,476,297 (GRCm39) |
D86V |
probably damaging |
Het |
Muc5ac |
C |
A |
7: 141,370,601 (GRCm39) |
C2500* |
probably null |
Het |
Mzf1 |
T |
C |
7: 12,787,296 (GRCm39) |
|
probably benign |
Het |
Or4f58 |
A |
C |
2: 111,851,605 (GRCm39) |
M198R |
possibly damaging |
Het |
Or5d46 |
T |
A |
2: 88,170,002 (GRCm39) |
I31N |
probably benign |
Het |
Or5m3 |
G |
T |
2: 85,838,443 (GRCm39) |
V108L |
possibly damaging |
Het |
Or7a36 |
T |
C |
10: 78,820,113 (GRCm39) |
V163A |
probably benign |
Het |
Otogl |
T |
G |
10: 107,626,361 (GRCm39) |
E1501A |
probably damaging |
Het |
Pcdh10 |
T |
A |
3: 45,335,989 (GRCm39) |
S768T |
possibly damaging |
Het |
Pcnx2 |
G |
T |
8: 126,604,325 (GRCm39) |
Q644K |
probably damaging |
Het |
Pdzd9 |
T |
A |
7: 120,259,449 (GRCm39) |
I180F |
possibly damaging |
Het |
Pinx1 |
A |
C |
14: 64,115,621 (GRCm39) |
N152T |
probably benign |
Het |
Prr14l |
T |
C |
5: 32,987,608 (GRCm39) |
E629G |
probably benign |
Het |
Qpctl |
T |
A |
7: 18,882,345 (GRCm39) |
I104F |
probably benign |
Het |
Rabep1 |
C |
T |
11: 70,808,505 (GRCm39) |
A444V |
probably damaging |
Het |
Rnf150 |
A |
G |
8: 83,717,183 (GRCm39) |
Y230C |
probably damaging |
Het |
Slc25a27 |
A |
C |
17: 43,968,621 (GRCm39) |
V152G |
probably damaging |
Het |
Swt1 |
A |
G |
1: 151,260,084 (GRCm39) |
S772P |
possibly damaging |
Het |
Tenm4 |
A |
G |
7: 96,523,701 (GRCm39) |
T1711A |
probably benign |
Het |
Tfap2d |
G |
C |
1: 19,174,702 (GRCm39) |
G52R |
probably benign |
Het |
Tmem265 |
T |
G |
7: 127,164,044 (GRCm39) |
V86G |
possibly damaging |
Het |
Trpm8 |
C |
T |
1: 88,276,054 (GRCm39) |
H551Y |
probably benign |
Het |
Ttc6 |
T |
G |
12: 57,749,048 (GRCm39) |
Y1327D |
possibly damaging |
Het |
Uevld |
G |
T |
7: 46,587,729 (GRCm39) |
Q324K |
possibly damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r73 |
C |
T |
7: 85,521,049 (GRCm39) |
M306I |
probably benign |
Het |
Vmn2r93 |
T |
A |
17: 18,524,366 (GRCm39) |
M120K |
probably benign |
Het |
Zfp804b |
T |
A |
5: 6,819,908 (GRCm39) |
I1016F |
probably benign |
Het |
Zfp90 |
T |
C |
8: 107,152,026 (GRCm39) |
C580R |
probably damaging |
Het |
|
Other mutations in Inpp4b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00850:Inpp4b
|
APN |
8 |
82,583,379 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01481:Inpp4b
|
APN |
8 |
82,724,009 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01509:Inpp4b
|
APN |
8 |
82,617,332 (GRCm39) |
splice site |
probably benign |
|
IGL01515:Inpp4b
|
APN |
8 |
82,679,340 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL01607:Inpp4b
|
APN |
8 |
82,737,292 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01643:Inpp4b
|
APN |
8 |
82,798,400 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01736:Inpp4b
|
APN |
8 |
82,723,968 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02154:Inpp4b
|
APN |
8 |
82,696,130 (GRCm39) |
splice site |
probably benign |
|
IGL02327:Inpp4b
|
APN |
8 |
82,768,591 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02413:Inpp4b
|
APN |
8 |
82,759,800 (GRCm39) |
missense |
probably benign |
|
IGL02652:Inpp4b
|
APN |
8 |
82,497,429 (GRCm39) |
splice site |
probably benign |
|
IGL02678:Inpp4b
|
APN |
8 |
82,583,373 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03146:Inpp4b
|
APN |
8 |
82,470,410 (GRCm39) |
missense |
possibly damaging |
0.61 |
LCD18:Inpp4b
|
UTSW |
8 |
82,419,639 (GRCm39) |
intron |
probably benign |
|
PIT4280001:Inpp4b
|
UTSW |
8 |
82,761,046 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4480001:Inpp4b
|
UTSW |
8 |
82,772,896 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4504001:Inpp4b
|
UTSW |
8 |
82,768,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R0083:Inpp4b
|
UTSW |
8 |
82,468,091 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0212:Inpp4b
|
UTSW |
8 |
82,497,546 (GRCm39) |
missense |
probably benign |
0.00 |
R0285:Inpp4b
|
UTSW |
8 |
82,761,145 (GRCm39) |
splice site |
probably benign |
|
R0363:Inpp4b
|
UTSW |
8 |
82,610,886 (GRCm39) |
splice site |
probably benign |
|
R0364:Inpp4b
|
UTSW |
8 |
82,723,943 (GRCm39) |
missense |
probably benign |
0.09 |
R0471:Inpp4b
|
UTSW |
8 |
82,768,528 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0550:Inpp4b
|
UTSW |
8 |
82,723,966 (GRCm39) |
missense |
probably benign |
0.00 |
R0562:Inpp4b
|
UTSW |
8 |
82,494,780 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0661:Inpp4b
|
UTSW |
8 |
82,468,091 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0693:Inpp4b
|
UTSW |
8 |
82,723,943 (GRCm39) |
missense |
probably benign |
0.09 |
R1081:Inpp4b
|
UTSW |
8 |
82,795,653 (GRCm39) |
missense |
probably damaging |
0.97 |
R1251:Inpp4b
|
UTSW |
8 |
82,617,382 (GRCm39) |
missense |
probably benign |
0.01 |
R1374:Inpp4b
|
UTSW |
8 |
82,470,445 (GRCm39) |
critical splice donor site |
probably null |
|
R1445:Inpp4b
|
UTSW |
8 |
82,679,463 (GRCm39) |
splice site |
probably null |
|
R1465:Inpp4b
|
UTSW |
8 |
82,494,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R1465:Inpp4b
|
UTSW |
8 |
82,494,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R1647:Inpp4b
|
UTSW |
8 |
82,583,403 (GRCm39) |
splice site |
probably benign |
|
R1754:Inpp4b
|
UTSW |
8 |
82,497,440 (GRCm39) |
missense |
probably damaging |
1.00 |
R1759:Inpp4b
|
UTSW |
8 |
82,494,732 (GRCm39) |
missense |
probably benign |
0.06 |
R2085:Inpp4b
|
UTSW |
8 |
82,678,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R2156:Inpp4b
|
UTSW |
8 |
82,775,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R2160:Inpp4b
|
UTSW |
8 |
82,848,004 (GRCm39) |
nonsense |
probably null |
|
R2175:Inpp4b
|
UTSW |
8 |
82,583,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R2191:Inpp4b
|
UTSW |
8 |
82,723,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R2401:Inpp4b
|
UTSW |
8 |
82,723,968 (GRCm39) |
missense |
probably benign |
0.00 |
R2475:Inpp4b
|
UTSW |
8 |
82,768,607 (GRCm39) |
missense |
probably benign |
0.09 |
R2512:Inpp4b
|
UTSW |
8 |
82,737,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R2919:Inpp4b
|
UTSW |
8 |
82,711,958 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3021:Inpp4b
|
UTSW |
8 |
82,629,467 (GRCm39) |
missense |
possibly damaging |
0.47 |
R3423:Inpp4b
|
UTSW |
8 |
82,678,890 (GRCm39) |
missense |
possibly damaging |
0.63 |
R3777:Inpp4b
|
UTSW |
8 |
82,768,621 (GRCm39) |
missense |
possibly damaging |
0.89 |
R3778:Inpp4b
|
UTSW |
8 |
82,768,621 (GRCm39) |
missense |
possibly damaging |
0.89 |
R3794:Inpp4b
|
UTSW |
8 |
82,759,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R3795:Inpp4b
|
UTSW |
8 |
82,759,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R4590:Inpp4b
|
UTSW |
8 |
82,468,040 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R4602:Inpp4b
|
UTSW |
8 |
82,696,164 (GRCm39) |
missense |
probably damaging |
0.99 |
R4691:Inpp4b
|
UTSW |
8 |
82,849,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R4924:Inpp4b
|
UTSW |
8 |
82,849,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R4992:Inpp4b
|
UTSW |
8 |
82,759,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R5219:Inpp4b
|
UTSW |
8 |
82,610,785 (GRCm39) |
missense |
probably benign |
0.01 |
R5228:Inpp4b
|
UTSW |
8 |
82,494,744 (GRCm39) |
missense |
probably damaging |
0.99 |
R5557:Inpp4b
|
UTSW |
8 |
82,678,888 (GRCm39) |
missense |
probably damaging |
0.99 |
R5627:Inpp4b
|
UTSW |
8 |
82,470,445 (GRCm39) |
critical splice donor site |
probably benign |
|
R5691:Inpp4b
|
UTSW |
8 |
82,617,323 (GRCm39) |
intron |
probably benign |
|
R6186:Inpp4b
|
UTSW |
8 |
82,772,863 (GRCm39) |
missense |
probably damaging |
0.99 |
R6213:Inpp4b
|
UTSW |
8 |
82,724,019 (GRCm39) |
missense |
probably damaging |
1.00 |
R6232:Inpp4b
|
UTSW |
8 |
82,678,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R6302:Inpp4b
|
UTSW |
8 |
82,494,806 (GRCm39) |
missense |
probably benign |
0.00 |
R6309:Inpp4b
|
UTSW |
8 |
82,768,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R6360:Inpp4b
|
UTSW |
8 |
82,629,481 (GRCm39) |
missense |
probably benign |
0.20 |
R6477:Inpp4b
|
UTSW |
8 |
82,571,343 (GRCm39) |
splice site |
probably null |
|
R6773:Inpp4b
|
UTSW |
8 |
82,583,249 (GRCm39) |
intron |
probably benign |
|
R6968:Inpp4b
|
UTSW |
8 |
82,571,086 (GRCm39) |
missense |
probably benign |
0.18 |
R7147:Inpp4b
|
UTSW |
8 |
82,629,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R7318:Inpp4b
|
UTSW |
8 |
82,798,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R7409:Inpp4b
|
UTSW |
8 |
82,679,314 (GRCm39) |
splice site |
probably null |
|
R7455:Inpp4b
|
UTSW |
8 |
82,798,332 (GRCm39) |
missense |
probably damaging |
0.99 |
R7632:Inpp4b
|
UTSW |
8 |
82,772,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R7844:Inpp4b
|
UTSW |
8 |
82,467,949 (GRCm39) |
start gained |
probably benign |
|
R7958:Inpp4b
|
UTSW |
8 |
82,696,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R8440:Inpp4b
|
UTSW |
8 |
82,768,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R9160:Inpp4b
|
UTSW |
8 |
82,610,782 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9303:Inpp4b
|
UTSW |
8 |
82,759,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R9390:Inpp4b
|
UTSW |
8 |
82,497,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R9583:Inpp4b
|
UTSW |
8 |
82,497,555 (GRCm39) |
critical splice donor site |
probably null |
|
R9705:Inpp4b
|
UTSW |
8 |
82,772,890 (GRCm39) |
missense |
probably benign |
0.14 |
R9778:Inpp4b
|
UTSW |
8 |
82,775,160 (GRCm39) |
missense |
probably benign |
|
RF003:Inpp4b
|
UTSW |
8 |
82,696,150 (GRCm39) |
nonsense |
probably null |
|
Z1088:Inpp4b
|
UTSW |
8 |
82,795,560 (GRCm39) |
critical splice acceptor site |
probably null |
|
Z1176:Inpp4b
|
UTSW |
8 |
82,795,630 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
Predicted Primers |
PCR Primer
(F):5'- AATACAATGGGGCTCTGGGC -3'
(R):5'- ACGTAGAAAAGTGCACTCATAAGAC -3'
Sequencing Primer
(F):5'- GCTCATGGCCCACAAGTAAC -3'
(R):5'- GCCCTCTTTAAAAATGCCAGTAG -3'
|
Posted On |
2018-03-15 |