Incidental Mutation 'R6895:Inpp5j'
ID |
538294 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inpp5j
|
Ensembl Gene |
ENSMUSG00000034570 |
Gene Name |
inositol polyphosphate 5-phosphatase J |
Synonyms |
Pipp, Pib5pa |
MMRRC Submission |
044989-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.495)
|
Stock # |
R6895 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
3444375-3454821 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
T to C
at 3445557 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044507]
[ENSMUST00000044682]
[ENSMUST00000064265]
[ENSMUST00000110018]
[ENSMUST00000110019]
[ENSMUST00000154756]
[ENSMUST00000183684]
|
AlphaFold |
P59644 |
Predicted Effect |
probably null
Transcript: ENSMUST00000044507
|
SMART Domains |
Protein: ENSMUSP00000046625 Gene: ENSMUSG00000034570
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
24 |
N/A |
INTRINSIC |
low complexity region
|
115 |
131 |
N/A |
INTRINSIC |
low complexity region
|
144 |
155 |
N/A |
INTRINSIC |
low complexity region
|
180 |
216 |
N/A |
INTRINSIC |
low complexity region
|
292 |
311 |
N/A |
INTRINSIC |
low complexity region
|
333 |
365 |
N/A |
INTRINSIC |
low complexity region
|
390 |
413 |
N/A |
INTRINSIC |
IPPc
|
418 |
733 |
4.41e-98 |
SMART |
low complexity region
|
840 |
862 |
N/A |
INTRINSIC |
low complexity region
|
868 |
887 |
N/A |
INTRINSIC |
low complexity region
|
898 |
919 |
N/A |
INTRINSIC |
low complexity region
|
924 |
943 |
N/A |
INTRINSIC |
low complexity region
|
992 |
1002 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000044682
|
SMART Domains |
Protein: ENSMUSP00000041571 Gene: ENSMUSG00000034579
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
PA2c
|
139 |
259 |
1.58e-2 |
SMART |
low complexity region
|
305 |
324 |
N/A |
INTRINSIC |
Pfam:Phospholip_A2_2
|
343 |
431 |
4e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000064265
|
SMART Domains |
Protein: ENSMUSP00000068699 Gene: ENSMUSG00000034579
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
PA2c
|
139 |
259 |
1.58e-2 |
SMART |
low complexity region
|
305 |
324 |
N/A |
INTRINSIC |
Pfam:Phospholip_A2_2
|
343 |
426 |
5.1e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110018
|
SMART Domains |
Protein: ENSMUSP00000105645 Gene: ENSMUSG00000034570
Domain | Start | End | E-Value | Type |
IPPc
|
2 |
301 |
4e-86 |
SMART |
low complexity region
|
408 |
430 |
N/A |
INTRINSIC |
low complexity region
|
436 |
455 |
N/A |
INTRINSIC |
low complexity region
|
466 |
487 |
N/A |
INTRINSIC |
low complexity region
|
492 |
511 |
N/A |
INTRINSIC |
low complexity region
|
560 |
570 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110019
|
SMART Domains |
Protein: ENSMUSP00000105646 Gene: ENSMUSG00000034570
Domain | Start | End | E-Value | Type |
IPPc
|
2 |
301 |
4e-86 |
SMART |
low complexity region
|
408 |
430 |
N/A |
INTRINSIC |
low complexity region
|
436 |
455 |
N/A |
INTRINSIC |
low complexity region
|
466 |
487 |
N/A |
INTRINSIC |
low complexity region
|
492 |
511 |
N/A |
INTRINSIC |
low complexity region
|
560 |
570 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000148939
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154756
|
SMART Domains |
Protein: ENSMUSP00000139302 Gene: ENSMUSG00000034570
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
24 |
N/A |
INTRINSIC |
low complexity region
|
115 |
131 |
N/A |
INTRINSIC |
low complexity region
|
144 |
155 |
N/A |
INTRINSIC |
low complexity region
|
180 |
216 |
N/A |
INTRINSIC |
low complexity region
|
292 |
311 |
N/A |
INTRINSIC |
low complexity region
|
333 |
365 |
N/A |
INTRINSIC |
low complexity region
|
390 |
413 |
N/A |
INTRINSIC |
IPPc
|
418 |
733 |
4.41e-98 |
SMART |
low complexity region
|
870 |
880 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183684
|
Meta Mutation Damage Score |
0.9756 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
Validation Efficiency |
100% (45/45) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele are viable, fertile, and show normal mammary gland development and no spontaneous mammary tumors. However, in an oncogene-driven breast cancer mouse model, mice show increased mammary hyperplasia and tumor growth paradoxically associated with reduced lung metastases. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd29 |
A |
G |
18: 12,394,046 (GRCm39) |
V256A |
probably benign |
Het |
Arid4a |
A |
G |
12: 71,110,076 (GRCm39) |
D139G |
probably benign |
Het |
AU040320 |
T |
C |
4: 126,685,723 (GRCm39) |
W100R |
probably damaging |
Het |
C4bp |
T |
C |
1: 130,563,943 (GRCm39) |
*470W |
probably null |
Het |
Capn8 |
C |
A |
1: 182,456,234 (GRCm39) |
D661E |
possibly damaging |
Het |
Car14 |
T |
C |
3: 95,805,472 (GRCm39) |
T334A |
probably benign |
Het |
Cfhr4 |
G |
A |
1: 139,668,210 (GRCm39) |
P308S |
possibly damaging |
Het |
Chd6 |
T |
A |
2: 160,830,260 (GRCm39) |
T1012S |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,529,910 (GRCm39) |
|
probably null |
Het |
Dnaaf2 |
A |
G |
12: 69,244,437 (GRCm39) |
V208A |
probably benign |
Het |
Dnah11 |
A |
G |
12: 117,958,926 (GRCm39) |
W2986R |
probably damaging |
Het |
Epb42 |
G |
A |
2: 120,867,104 (GRCm39) |
|
probably benign |
Het |
Fam120a |
A |
G |
13: 49,045,497 (GRCm39) |
F780L |
probably benign |
Het |
Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
Grid2 |
T |
C |
6: 64,372,283 (GRCm39) |
F655S |
probably damaging |
Het |
Homer3 |
T |
C |
8: 70,737,955 (GRCm39) |
S2P |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,038,883 (GRCm39) |
V207A |
probably benign |
Het |
Jak1 |
C |
T |
4: 101,011,734 (GRCm39) |
|
probably null |
Het |
Jmjd1c |
A |
G |
10: 67,052,869 (GRCm39) |
I220V |
probably benign |
Het |
Kat6a |
T |
G |
8: 23,425,799 (GRCm39) |
S1115A |
possibly damaging |
Het |
Larp4 |
T |
G |
15: 99,905,611 (GRCm39) |
|
probably null |
Het |
Lrrc72 |
T |
G |
12: 36,259,717 (GRCm39) |
D43A |
probably damaging |
Het |
Mptx2 |
A |
C |
1: 173,105,252 (GRCm39) |
V13G |
probably benign |
Het |
Nmbr |
A |
T |
10: 14,645,704 (GRCm39) |
*258Y |
probably null |
Het |
Nup210l |
C |
T |
3: 90,067,231 (GRCm39) |
A757V |
probably damaging |
Het |
Nup62 |
A |
G |
7: 44,479,157 (GRCm39) |
K391E |
possibly damaging |
Het |
Nup93 |
T |
A |
8: 94,970,314 (GRCm39) |
I71K |
probably damaging |
Het |
Or14a256 |
A |
T |
7: 86,265,323 (GRCm39) |
C177S |
probably damaging |
Het |
Or8b51 |
A |
C |
9: 38,569,385 (GRCm39) |
L101R |
probably damaging |
Het |
Pik3cg |
A |
G |
12: 32,254,346 (GRCm39) |
M547T |
possibly damaging |
Het |
Ropn1 |
A |
T |
16: 34,497,668 (GRCm39) |
I187F |
possibly damaging |
Het |
Rtp3 |
T |
C |
9: 110,816,264 (GRCm39) |
R96G |
possibly damaging |
Het |
Sfrp5 |
A |
T |
19: 42,188,227 (GRCm39) |
S197R |
probably damaging |
Het |
Slc12a6 |
A |
G |
2: 112,185,440 (GRCm39) |
H903R |
probably damaging |
Het |
Slc26a3 |
G |
T |
12: 31,513,523 (GRCm39) |
A482S |
probably damaging |
Het |
Slc2a12 |
G |
T |
10: 22,568,084 (GRCm39) |
A504S |
probably damaging |
Het |
Slitrk5 |
C |
A |
14: 111,919,085 (GRCm39) |
P903Q |
probably damaging |
Het |
Tas2r123 |
A |
T |
6: 132,824,133 (GRCm39) |
H10L |
probably benign |
Het |
Tex46 |
T |
C |
4: 136,340,212 (GRCm39) |
V99A |
probably benign |
Het |
Top2b |
T |
C |
14: 16,413,604 (GRCm38) |
V1024A |
probably benign |
Het |
Ugt2b36 |
G |
A |
5: 87,240,157 (GRCm39) |
T76I |
probably benign |
Het |
Usp31 |
G |
T |
7: 121,252,399 (GRCm39) |
T747K |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
|
Other mutations in Inpp5j |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00231:Inpp5j
|
APN |
11 |
3,450,009 (GRCm39) |
splice site |
probably benign |
|
IGL00435:Inpp5j
|
APN |
11 |
3,452,255 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00509:Inpp5j
|
APN |
11 |
3,451,595 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL00916:Inpp5j
|
APN |
11 |
3,452,389 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00975:Inpp5j
|
APN |
11 |
3,452,176 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01523:Inpp5j
|
APN |
11 |
3,445,932 (GRCm39) |
splice site |
probably null |
|
IGL02472:Inpp5j
|
APN |
11 |
3,445,338 (GRCm39) |
unclassified |
probably benign |
|
IGL02512:Inpp5j
|
APN |
11 |
3,449,661 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02897:Inpp5j
|
APN |
11 |
3,450,619 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03408:Inpp5j
|
APN |
11 |
3,452,809 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0048:Inpp5j
|
UTSW |
11 |
3,451,417 (GRCm39) |
missense |
probably damaging |
0.97 |
R0440:Inpp5j
|
UTSW |
11 |
3,451,150 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0455:Inpp5j
|
UTSW |
11 |
3,453,122 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0483:Inpp5j
|
UTSW |
11 |
3,449,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R0554:Inpp5j
|
UTSW |
11 |
3,449,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R0639:Inpp5j
|
UTSW |
11 |
3,451,147 (GRCm39) |
missense |
probably benign |
0.29 |
R0673:Inpp5j
|
UTSW |
11 |
3,451,147 (GRCm39) |
missense |
probably benign |
0.29 |
R0926:Inpp5j
|
UTSW |
11 |
3,451,439 (GRCm39) |
splice site |
probably benign |
|
R1114:Inpp5j
|
UTSW |
11 |
3,444,814 (GRCm39) |
missense |
possibly damaging |
0.57 |
R1132:Inpp5j
|
UTSW |
11 |
3,452,305 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1463:Inpp5j
|
UTSW |
11 |
3,451,147 (GRCm39) |
missense |
probably benign |
0.03 |
R1757:Inpp5j
|
UTSW |
11 |
3,454,738 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1978:Inpp5j
|
UTSW |
11 |
3,452,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R3078:Inpp5j
|
UTSW |
11 |
3,453,124 (GRCm39) |
splice site |
probably null |
|
R3831:Inpp5j
|
UTSW |
11 |
3,450,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R4012:Inpp5j
|
UTSW |
11 |
3,450,185 (GRCm39) |
missense |
probably benign |
0.06 |
R4183:Inpp5j
|
UTSW |
11 |
3,451,134 (GRCm39) |
missense |
probably damaging |
0.99 |
R4209:Inpp5j
|
UTSW |
11 |
3,451,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R4210:Inpp5j
|
UTSW |
11 |
3,451,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R4211:Inpp5j
|
UTSW |
11 |
3,451,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R4477:Inpp5j
|
UTSW |
11 |
3,451,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R4729:Inpp5j
|
UTSW |
11 |
3,445,025 (GRCm39) |
missense |
probably damaging |
0.99 |
R4840:Inpp5j
|
UTSW |
11 |
3,449,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R5025:Inpp5j
|
UTSW |
11 |
3,450,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R5151:Inpp5j
|
UTSW |
11 |
3,452,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R5195:Inpp5j
|
UTSW |
11 |
3,449,889 (GRCm39) |
critical splice donor site |
probably null |
|
R5623:Inpp5j
|
UTSW |
11 |
3,444,766 (GRCm39) |
missense |
probably damaging |
0.96 |
R6262:Inpp5j
|
UTSW |
11 |
3,452,615 (GRCm39) |
missense |
probably benign |
0.02 |
R6448:Inpp5j
|
UTSW |
11 |
3,445,387 (GRCm39) |
missense |
probably damaging |
0.99 |
R6465:Inpp5j
|
UTSW |
11 |
3,452,293 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6723:Inpp5j
|
UTSW |
11 |
3,450,640 (GRCm39) |
missense |
probably damaging |
0.99 |
R7060:Inpp5j
|
UTSW |
11 |
3,450,133 (GRCm39) |
splice site |
probably null |
|
R7346:Inpp5j
|
UTSW |
11 |
3,451,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R8026:Inpp5j
|
UTSW |
11 |
3,445,171 (GRCm39) |
missense |
|
|
R8360:Inpp5j
|
UTSW |
11 |
3,449,767 (GRCm39) |
missense |
probably damaging |
0.99 |
R9706:Inpp5j
|
UTSW |
11 |
3,449,960 (GRCm39) |
missense |
possibly damaging |
0.95 |
T0975:Inpp5j
|
UTSW |
11 |
3,452,527 (GRCm39) |
missense |
possibly damaging |
0.69 |
Z1176:Inpp5j
|
UTSW |
11 |
3,452,484 (GRCm39) |
nonsense |
probably null |
|
Z1177:Inpp5j
|
UTSW |
11 |
3,452,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGGTGGTGGCTATAGTAACCC -3'
(R):5'- TACCGGGTAAGACTCTGCAG -3'
Sequencing Primer
(F):5'- TAGTAACCCAGAATGAAGTCTCCGTG -3'
(R):5'- CTCTGCAGGAAGGAAGTCACTCTG -3'
|
Posted On |
2018-11-06 |