Incidental Mutation 'IGL02512:Inpp5j'
| ID |
296590 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Inpp5j
|
| Ensembl Gene |
ENSMUSG00000034570 |
| Gene Name |
inositol polyphosphate 5-phosphatase J |
| Synonyms |
Pipp, Pib5pa |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.474)
|
| Stock # |
IGL02512
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
3444375-3454821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3449661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 707
(Y707F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046625
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044507]
[ENSMUST00000044682]
[ENSMUST00000110018]
[ENSMUST00000110019]
[ENSMUST00000154756]
[ENSMUST00000183684]
|
| AlphaFold |
P59644 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044507
AA Change: Y707F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046625
Gene: ENSMUSG00000034570
AA Change: Y707F
| 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: 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 |
unknown
Transcript: ENSMUST00000148939
AA Change: Y335F
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154756
AA Change: Y707F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139302
Gene: ENSMUSG00000034570
AA Change: Y707F
| 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 |
|
| Validation Efficiency |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg10b |
C |
A |
15: 90,111,752 (GRCm39) |
H199N |
probably benign |
Het |
| Ankrd13a |
T |
A |
5: 114,924,827 (GRCm39) |
M104K |
probably benign |
Het |
| Ankrd37 |
A |
G |
8: 46,452,325 (GRCm39) |
L48P |
probably damaging |
Het |
| Ankzf1 |
T |
A |
1: 75,169,222 (GRCm39) |
L43M |
probably damaging |
Het |
| Ano10 |
A |
C |
9: 122,101,540 (GRCm39) |
V77G |
possibly damaging |
Het |
| Arg2 |
G |
A |
12: 79,194,517 (GRCm39) |
V114I |
probably benign |
Het |
| Asah1 |
A |
C |
8: 41,813,344 (GRCm39) |
|
probably benign |
Het |
| Clpx |
A |
C |
9: 65,217,533 (GRCm39) |
I34L |
probably benign |
Het |
| Cnga2 |
G |
A |
X: 71,052,531 (GRCm39) |
V469I |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,856,950 (GRCm39) |
|
probably benign |
Het |
| Eaf1 |
A |
G |
14: 31,219,743 (GRCm39) |
T61A |
possibly damaging |
Het |
| Exoc3l |
T |
A |
8: 106,017,115 (GRCm39) |
D624V |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,547,904 (GRCm39) |
D927G |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,180,380 (GRCm39) |
Y1801N |
probably damaging |
Het |
| Garnl3 |
A |
G |
2: 32,921,150 (GRCm39) |
Y292H |
probably damaging |
Het |
| Gpr174 |
A |
T |
X: 106,336,577 (GRCm39) |
K130* |
probably null |
Het |
| Greb1 |
C |
T |
12: 16,742,713 (GRCm39) |
V1379I |
possibly damaging |
Het |
| Grik2 |
A |
T |
10: 49,232,008 (GRCm39) |
D507E |
probably benign |
Het |
| Gsn |
A |
T |
2: 35,173,962 (GRCm39) |
K24* |
probably null |
Het |
| Ift80 |
A |
G |
3: 68,835,058 (GRCm39) |
|
probably null |
Het |
| Ints13 |
A |
T |
6: 146,477,855 (GRCm39) |
D31E |
probably damaging |
Het |
| Kcnh1 |
T |
C |
1: 192,187,689 (GRCm39) |
F717L |
possibly damaging |
Het |
| Klhdc8a |
T |
C |
1: 132,230,895 (GRCm39) |
|
probably null |
Het |
| Klkb1 |
G |
A |
8: 45,729,277 (GRCm39) |
|
probably benign |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Msh6 |
T |
C |
17: 88,292,160 (GRCm39) |
V305A |
probably benign |
Het |
| Myo6 |
T |
A |
9: 80,199,801 (GRCm39) |
|
probably null |
Het |
| Nampt |
T |
A |
12: 32,880,268 (GRCm39) |
Y54N |
possibly damaging |
Het |
| Neurog2 |
G |
T |
3: 127,427,504 (GRCm39) |
E43* |
probably null |
Het |
| Obscn |
C |
T |
11: 58,919,343 (GRCm39) |
R6887H |
probably damaging |
Het |
| Or10ag58 |
A |
G |
2: 87,265,402 (GRCm39) |
I190M |
possibly damaging |
Het |
| Or5ac25 |
T |
C |
16: 59,182,171 (GRCm39) |
N137D |
possibly damaging |
Het |
| Or6c203 |
A |
G |
10: 129,010,119 (GRCm39) |
I257T |
possibly damaging |
Het |
| Pdss1 |
A |
G |
2: 22,802,658 (GRCm39) |
I166V |
probably damaging |
Het |
| Phaf1 |
G |
A |
8: 105,961,110 (GRCm39) |
|
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,645,651 (GRCm39) |
T1096A |
probably benign |
Het |
| Reln |
A |
G |
5: 22,245,425 (GRCm39) |
Y728H |
probably benign |
Het |
| Sec31a |
T |
C |
5: 100,555,052 (GRCm39) |
D56G |
probably damaging |
Het |
| Shroom1 |
T |
A |
11: 53,357,386 (GRCm39) |
V683E |
probably damaging |
Het |
| Slc5a11 |
A |
G |
7: 122,864,478 (GRCm39) |
D358G |
probably damaging |
Het |
| Slfn3 |
T |
A |
11: 83,103,851 (GRCm39) |
S241T |
possibly damaging |
Het |
| Slitrk3 |
G |
A |
3: 72,957,735 (GRCm39) |
P346S |
probably benign |
Het |
| Specc1 |
T |
A |
11: 62,009,215 (GRCm39) |
S324T |
probably damaging |
Het |
| Sptlc3 |
T |
C |
2: 139,389,123 (GRCm39) |
Y168H |
probably damaging |
Het |
| St3gal6 |
C |
T |
16: 58,293,822 (GRCm39) |
E236K |
probably benign |
Het |
| Tet2 |
A |
T |
3: 133,175,069 (GRCm39) |
M1426K |
probably benign |
Het |
| Tinag |
A |
T |
9: 76,939,069 (GRCm39) |
|
probably benign |
Het |
| Tjp1 |
A |
G |
7: 64,993,415 (GRCm39) |
S53P |
probably damaging |
Het |
| Uimc1 |
T |
C |
13: 55,188,431 (GRCm39) |
T543A |
possibly damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,764,448 (GRCm39) |
W2147R |
probably benign |
Het |
| Zmym1 |
C |
T |
4: 126,942,465 (GRCm39) |
C641Y |
probably 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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation