Incidental Mutation 'R8026:Inpp5j'
ID |
617721 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inpp5j
|
Ensembl Gene |
ENSMUSG00000034570 |
Gene Name |
inositol polyphosphate 5-phosphatase J |
Synonyms |
Pipp, Pib5pa |
MMRRC Submission |
067465-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.495)
|
Stock # |
R8026 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
3444375-3454821 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 3445171 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 494
(S494P)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044507]
[ENSMUST00000044682]
[ENSMUST00000064265]
[ENSMUST00000110018]
[ENSMUST00000110019]
[ENSMUST00000154756]
[ENSMUST00000183684]
|
AlphaFold |
P59644 |
Predicted Effect |
probably benign
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 |
|
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
99% (66/67) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb8 |
T |
C |
5: 24,611,723 (GRCm39) |
V513A |
probably damaging |
Het |
Acsf2 |
C |
T |
11: 94,453,714 (GRCm39) |
V416M |
probably damaging |
Het |
Adrm1 |
G |
A |
2: 179,817,002 (GRCm39) |
A225T |
unknown |
Het |
Aldh9a1 |
T |
C |
1: 167,180,236 (GRCm39) |
|
probably null |
Het |
Apbb2 |
T |
C |
5: 66,608,987 (GRCm39) |
D220G |
probably benign |
Het |
Bace2 |
T |
C |
16: 97,238,052 (GRCm39) |
V501A |
probably benign |
Het |
Camsap1 |
T |
C |
2: 25,828,214 (GRCm39) |
N1170S |
probably benign |
Het |
Casr |
A |
G |
16: 36,315,979 (GRCm39) |
V697A |
probably damaging |
Het |
Clcn1 |
T |
C |
6: 42,284,595 (GRCm39) |
|
probably null |
Het |
Cobl |
T |
C |
11: 12,203,459 (GRCm39) |
K1081R |
probably benign |
Het |
Ctr9 |
T |
A |
7: 110,633,099 (GRCm39) |
L116I |
probably damaging |
Het |
Dennd4a |
T |
C |
9: 64,780,312 (GRCm39) |
F616S |
probably damaging |
Het |
Dynlt1a |
C |
T |
17: 6,362,089 (GRCm39) |
G30S |
possibly damaging |
Het |
Eif1 |
T |
C |
11: 100,211,274 (GRCm39) |
S23P |
possibly damaging |
Het |
Eml6 |
A |
C |
11: 29,699,973 (GRCm39) |
L1721R |
possibly damaging |
Het |
Fscb |
A |
G |
12: 64,521,049 (GRCm39) |
I139T |
probably benign |
Het |
Fstl4 |
A |
G |
11: 52,959,496 (GRCm39) |
E179G |
probably damaging |
Het |
Fuom |
T |
C |
7: 139,680,067 (GRCm39) |
T95A |
|
Het |
Gigyf1 |
C |
T |
5: 137,523,740 (GRCm39) |
H1001Y |
probably damaging |
Het |
Gm21886 |
T |
A |
18: 80,132,961 (GRCm39) |
S66C |
probably damaging |
Het |
Helz2 |
G |
A |
2: 180,881,998 (GRCm39) |
T265I |
probably benign |
Het |
Hs6st3 |
G |
T |
14: 120,106,968 (GRCm39) |
V459F |
probably damaging |
Het |
Ido2 |
A |
G |
8: 25,025,156 (GRCm39) |
|
probably null |
Het |
Idua |
A |
G |
5: 108,818,115 (GRCm39) |
I96V |
probably benign |
Het |
Iftap |
A |
T |
2: 101,400,989 (GRCm39) |
|
probably benign |
Het |
Krt19 |
A |
G |
11: 100,032,209 (GRCm39) |
V285A |
probably damaging |
Het |
Krt71 |
T |
G |
15: 101,646,817 (GRCm39) |
D297A |
possibly damaging |
Het |
L3hypdh |
G |
A |
12: 72,131,723 (GRCm39) |
R70C |
probably damaging |
Het |
Masp1 |
T |
C |
16: 23,303,156 (GRCm39) |
Y324C |
probably damaging |
Het |
Mfap2 |
A |
G |
4: 140,741,114 (GRCm39) |
D25G |
possibly damaging |
Het |
Mmp17 |
G |
A |
5: 129,672,148 (GRCm39) |
|
probably null |
Het |
Mroh7 |
G |
A |
4: 106,578,634 (GRCm39) |
P15S |
probably benign |
Het |
Muc5b |
T |
A |
7: 141,417,373 (GRCm39) |
C3440S |
probably benign |
Het |
Naip5 |
C |
A |
13: 100,382,406 (GRCm39) |
S101I |
probably damaging |
Het |
Neb |
A |
T |
2: 52,113,060 (GRCm39) |
Y1066N |
|
Het |
Nop56 |
T |
A |
2: 130,119,188 (GRCm39) |
C38S |
probably benign |
Het |
Nup214 |
T |
A |
2: 31,923,362 (GRCm39) |
L1297Q |
possibly damaging |
Het |
Oasl2 |
C |
A |
5: 115,040,329 (GRCm39) |
|
probably benign |
Het |
Or4a70 |
A |
G |
2: 89,324,132 (GRCm39) |
F175L |
probably damaging |
Het |
Or4c58 |
T |
C |
2: 89,675,273 (GRCm39) |
N15D |
probably benign |
Het |
Or51b4 |
A |
G |
7: 103,530,904 (GRCm39) |
V182A |
possibly damaging |
Het |
Or52a5 |
T |
A |
7: 103,427,547 (GRCm39) |
I2F |
probably benign |
Het |
Or5h24 |
T |
C |
16: 58,918,731 (GRCm39) |
H208R |
unknown |
Het |
Or8g4 |
T |
C |
9: 39,662,092 (GRCm39) |
S137P |
possibly damaging |
Het |
Pacrg |
C |
T |
17: 10,795,496 (GRCm39) |
V155I |
probably benign |
Het |
Patz1 |
A |
T |
11: 3,257,658 (GRCm39) |
M96L |
probably benign |
Het |
Pcca |
A |
G |
14: 122,875,794 (GRCm39) |
D141G |
probably benign |
Het |
Ptprr |
A |
G |
10: 115,884,075 (GRCm39) |
Y44C |
probably damaging |
Het |
Rad51ap1 |
A |
G |
6: 126,911,675 (GRCm39) |
|
probably null |
Het |
Raet1e |
A |
C |
10: 22,057,198 (GRCm39) |
D174A |
probably damaging |
Het |
Rhobtb2 |
T |
G |
14: 70,034,214 (GRCm39) |
D337A |
probably benign |
Het |
Sbf2 |
T |
C |
7: 109,934,594 (GRCm39) |
K1377E |
probably damaging |
Het |
Sh3pxd2b |
A |
G |
11: 32,361,567 (GRCm39) |
K260E |
probably damaging |
Het |
Slc4a8 |
A |
T |
15: 100,685,170 (GRCm39) |
I234F |
possibly damaging |
Het |
Srgap3 |
C |
T |
6: 112,716,325 (GRCm39) |
R625H |
probably benign |
Het |
Tbxas1 |
C |
T |
6: 39,004,830 (GRCm39) |
T359I |
probably benign |
Het |
Trim9 |
T |
A |
12: 70,337,161 (GRCm39) |
S309C |
probably benign |
Het |
Ttn |
G |
A |
2: 76,659,483 (GRCm39) |
P12191S |
unknown |
Het |
Unc80 |
A |
G |
1: 66,522,463 (GRCm39) |
R222G |
possibly damaging |
Het |
Vmn1r202 |
A |
T |
13: 22,686,314 (GRCm39) |
H34Q |
possibly damaging |
Het |
Vmn2r61 |
T |
A |
7: 41,916,141 (GRCm39) |
N251K |
probably benign |
Het |
Vmn2r67 |
A |
T |
7: 84,785,924 (GRCm39) |
Y694N |
probably damaging |
Het |
Vwde |
A |
G |
6: 13,205,782 (GRCm39) |
F255S |
probably benign |
Het |
Zfp532 |
T |
G |
18: 65,758,227 (GRCm39) |
I720R |
possibly damaging |
Het |
Zfp819 |
A |
G |
7: 43,267,319 (GRCm39) |
T601A |
probably benign |
Het |
Zfp853 |
G |
T |
5: 143,274,280 (GRCm39) |
Q462K |
unknown |
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 |
R6895:Inpp5j
|
UTSW |
11 |
3,445,557 (GRCm39) |
splice site |
probably null |
|
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 |
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'- TCGGCTGCTACTACTGTGAC -3'
(R):5'- TCAGACGATAGGGCCAAAGC -3'
Sequencing Primer
(F):5'- GCTGCTACTACTGTGACCCCTG -3'
(R):5'- CAGGCCAAGATGTCCCAGTC -3'
|
Posted On |
2020-01-23 |