Incidental Mutation 'R3078:Inpp5j'
ID |
265297 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inpp5j
|
Ensembl Gene |
ENSMUSG00000034570 |
Gene Name |
inositol polyphosphate 5-phosphatase J |
Synonyms |
Pipp, Pib5pa |
MMRRC Submission |
040568-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.474)
|
Stock # |
R3078 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
3444375-3454821 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 3453124 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044507]
[ENSMUST00000044682]
[ENSMUST00000110018]
[ENSMUST00000110019]
[ENSMUST00000154756]
[ENSMUST00000183684]
|
AlphaFold |
P59644 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044507
AA Change: Q42L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000046625 Gene: ENSMUSG00000034570 AA Change: Q42L
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 |
possibly damaging
Transcript: ENSMUST00000110018
AA Change: Q42L
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000105645 Gene: ENSMUSG00000034570 AA Change: Q42L
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 damaging
Transcript: ENSMUST00000154756
AA Change: Q42L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000139302 Gene: ENSMUSG00000034570 AA Change: Q42L
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 |
0.1286 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
93% (42/45) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,306,764 (GRCm39) |
I1981V |
probably benign |
Het |
Actr3b |
A |
G |
5: 26,027,440 (GRCm39) |
Y37C |
probably damaging |
Het |
Adgrd1 |
A |
T |
5: 129,206,169 (GRCm39) |
I248F |
probably benign |
Het |
Alg10b |
T |
C |
15: 90,112,139 (GRCm39) |
S328P |
probably benign |
Het |
C5ar2 |
G |
A |
7: 15,971,349 (GRCm39) |
R193C |
probably damaging |
Het |
Cct8 |
A |
G |
16: 87,285,765 (GRCm39) |
V231A |
possibly damaging |
Het |
Clca4a |
C |
T |
3: 144,674,014 (GRCm39) |
M240I |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,185,435 (GRCm39) |
I3520N |
probably damaging |
Het |
Dock6 |
G |
T |
9: 21,757,050 (GRCm39) |
|
probably benign |
Het |
Dynlrb1 |
T |
A |
2: 155,091,865 (GRCm39) |
I99N |
probably damaging |
Het |
Ebf4 |
G |
A |
2: 130,148,419 (GRCm39) |
D77N |
probably damaging |
Het |
Fbxw10 |
C |
T |
11: 62,758,339 (GRCm39) |
|
probably benign |
Het |
Gm10801 |
T |
C |
2: 98,494,197 (GRCm39) |
I113T |
probably damaging |
Het |
Gm5499 |
T |
C |
17: 87,386,314 (GRCm39) |
|
noncoding transcript |
Het |
Gm9913 |
A |
G |
2: 125,348,459 (GRCm39) |
|
probably benign |
Het |
Herc2 |
A |
G |
7: 55,786,991 (GRCm39) |
N1612S |
probably benign |
Het |
Ifnar2 |
T |
C |
16: 91,182,889 (GRCm39) |
S53P |
possibly damaging |
Het |
Insyn2a |
A |
G |
7: 134,519,750 (GRCm39) |
I260T |
probably benign |
Het |
Iqca1l |
G |
C |
5: 24,751,664 (GRCm39) |
T528S |
probably benign |
Het |
Kif14 |
T |
G |
1: 136,447,383 (GRCm39) |
I1396S |
possibly damaging |
Het |
Med28 |
A |
G |
5: 45,679,820 (GRCm39) |
T68A |
possibly damaging |
Het |
Meis1 |
A |
T |
11: 18,961,254 (GRCm39) |
N206K |
probably benign |
Het |
Mfsd14a |
T |
C |
3: 116,441,566 (GRCm39) |
|
probably benign |
Het |
Mnt |
G |
C |
11: 74,733,936 (GRCm39) |
|
probably benign |
Het |
Mto1 |
A |
G |
9: 78,365,310 (GRCm39) |
Y413C |
probably damaging |
Het |
Myo7b |
T |
C |
18: 32,100,237 (GRCm39) |
D1599G |
probably benign |
Het |
Myoz1 |
T |
C |
14: 20,703,685 (GRCm39) |
|
probably benign |
Het |
Nhsl2 |
C |
T |
X: 101,121,201 (GRCm39) |
R62W |
probably damaging |
Het |
Npr2 |
T |
A |
4: 43,640,182 (GRCm39) |
Y306N |
probably damaging |
Het |
Nrxn3 |
T |
G |
12: 89,227,186 (GRCm39) |
C274G |
probably damaging |
Het |
Or1e29 |
G |
A |
11: 73,667,466 (GRCm39) |
P229L |
possibly damaging |
Het |
Or5ac22 |
A |
T |
16: 59,135,089 (GRCm39) |
M227K |
probably benign |
Het |
Phldb2 |
T |
C |
16: 45,645,373 (GRCm39) |
T403A |
probably benign |
Het |
Plaa |
T |
C |
4: 94,458,042 (GRCm39) |
I643V |
probably benign |
Het |
Slc28a2b |
T |
C |
2: 122,344,895 (GRCm39) |
L167P |
possibly damaging |
Het |
Stau1 |
T |
C |
2: 166,796,936 (GRCm39) |
I154V |
possibly damaging |
Het |
Ugcg |
T |
G |
4: 59,213,922 (GRCm39) |
V168G |
probably damaging |
Het |
Vmn2r2 |
T |
C |
3: 64,042,053 (GRCm39) |
I221V |
probably benign |
Het |
Wdr93 |
T |
C |
7: 79,402,241 (GRCm39) |
I180T |
possibly damaging |
Het |
Whamm |
G |
C |
7: 81,221,532 (GRCm39) |
G155R |
probably damaging |
Het |
Wnt5a |
T |
A |
14: 28,235,140 (GRCm39) |
Y41* |
probably null |
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 |
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 |
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'- GCAGATACTACCAGTTGGCC -3'
(R):5'- GCTGACCTGGAACAAGATGG -3'
Sequencing Primer
(F):5'- TACCAGTTGGCCCACAGACTTG -3'
(R):5'- CTGACCTGGAACAAGATGGATTGG -3'
|
Posted On |
2015-02-05 |