Incidental Mutation 'R4209:Inpp5j'
ID |
319079 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inpp5j
|
Ensembl Gene |
ENSMUSG00000034570 |
Gene Name |
inositol polyphosphate 5-phosphatase J |
Synonyms |
Pipp, Pib5pa |
MMRRC Submission |
041038-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.495)
|
Stock # |
R4209 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
3444375-3454821 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 3451107 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Proline
at position 514
(H514P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139302
(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: H514P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000046625 Gene: ENSMUSG00000034570 AA Change: H514P
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: H142P
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000154756
AA Change: H514P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139302 Gene: ENSMUSG00000034570 AA Change: H514P
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 |
0.8470 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
98% (45/46) |
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 |
Aadacl2fm3 |
A |
T |
3: 59,784,577 (GRCm39) |
Y350F |
probably damaging |
Het |
Ahnak |
G |
A |
19: 8,979,964 (GRCm39) |
G416D |
probably damaging |
Het |
Ap3b2 |
C |
A |
7: 81,126,884 (GRCm39) |
A289S |
probably benign |
Het |
Arhgap23 |
C |
A |
11: 97,345,322 (GRCm39) |
T657K |
probably damaging |
Het |
Bcl9 |
A |
G |
3: 97,117,269 (GRCm39) |
L475P |
probably damaging |
Het |
Bean1 |
T |
A |
8: 104,940,566 (GRCm39) |
M1K |
probably null |
Het |
Cand1 |
T |
A |
10: 119,047,463 (GRCm39) |
I676F |
probably benign |
Het |
Casp3 |
G |
T |
8: 47,088,423 (GRCm39) |
D107Y |
probably damaging |
Het |
Cops4 |
T |
A |
5: 100,695,352 (GRCm39) |
|
probably benign |
Het |
Dchs1 |
A |
T |
7: 105,415,397 (GRCm39) |
D626E |
probably damaging |
Het |
Dpysl2 |
T |
C |
14: 67,052,926 (GRCm39) |
S308G |
probably damaging |
Het |
Fezf1 |
T |
C |
6: 23,246,616 (GRCm39) |
K323E |
probably damaging |
Het |
Gm10272 |
T |
C |
10: 77,542,665 (GRCm39) |
V69A |
possibly damaging |
Het |
Gtf2f1 |
A |
G |
17: 57,318,003 (GRCm39) |
V11A |
probably benign |
Het |
Hnf4a |
T |
C |
2: 163,410,809 (GRCm39) |
S378P |
probably benign |
Het |
Irf8 |
T |
A |
8: 121,480,208 (GRCm39) |
Y149N |
probably damaging |
Het |
Kel |
C |
T |
6: 41,675,359 (GRCm39) |
W297* |
probably null |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Mcpt8 |
G |
A |
14: 56,321,375 (GRCm39) |
H30Y |
probably damaging |
Het |
Mycl |
G |
T |
4: 122,893,715 (GRCm39) |
V172L |
possibly damaging |
Het |
Pcgf5 |
C |
A |
19: 36,414,740 (GRCm39) |
N26K |
possibly damaging |
Het |
Ppp2r2a |
A |
G |
14: 67,266,328 (GRCm39) |
L111S |
probably damaging |
Het |
Prdm2 |
T |
C |
4: 142,861,007 (GRCm39) |
D761G |
probably damaging |
Het |
Sec11a |
A |
T |
7: 80,584,790 (GRCm39) |
I49N |
probably damaging |
Het |
Sesn3 |
T |
C |
9: 14,217,505 (GRCm39) |
I30T |
probably benign |
Het |
Slc22a21 |
A |
G |
11: 53,846,881 (GRCm39) |
S331P |
probably benign |
Het |
Slc38a3 |
T |
G |
9: 107,532,547 (GRCm39) |
S358R |
possibly damaging |
Het |
Slc9a5 |
A |
G |
8: 106,085,103 (GRCm39) |
N535D |
possibly damaging |
Het |
Spns2 |
T |
C |
11: 72,345,012 (GRCm39) |
D492G |
probably benign |
Het |
Tcn2 |
T |
C |
11: 3,872,114 (GRCm39) |
K338E |
possibly damaging |
Het |
Tdp1 |
C |
A |
12: 99,864,588 (GRCm39) |
A243E |
probably damaging |
Het |
Tex16 |
T |
A |
X: 111,030,640 (GRCm39) |
D1046E |
probably benign |
Het |
Tmem120a |
T |
C |
5: 135,764,559 (GRCm39) |
N340S |
probably benign |
Het |
Tnik |
A |
T |
3: 28,413,214 (GRCm39) |
|
probably benign |
Het |
Trim36 |
A |
G |
18: 46,329,191 (GRCm39) |
L71P |
probably benign |
Het |
Tube1 |
A |
G |
10: 39,020,930 (GRCm39) |
|
probably null |
Het |
Urgcp |
C |
A |
11: 5,665,878 (GRCm39) |
G820V |
probably damaging |
Het |
Veph1 |
A |
T |
3: 66,151,967 (GRCm39) |
L154Q |
probably damaging |
Het |
Vmn1r113 |
T |
C |
7: 20,521,535 (GRCm39) |
V109A |
probably benign |
Het |
Vmn1r152 |
A |
T |
7: 22,223,004 (GRCm39) |
T205S |
possibly damaging |
Het |
Wdsub1 |
G |
A |
2: 59,707,149 (GRCm39) |
P28S |
probably damaging |
Het |
Ybx2 |
G |
T |
11: 69,826,767 (GRCm39) |
|
probably benign |
Het |
Zfyve1 |
A |
T |
12: 83,621,909 (GRCm39) |
V162E |
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 |
|
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 |
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'- TGACAGGTCATGAGCCTGAC -3'
(R):5'- ACACCCTTGTGAGAAGCAGG -3'
Sequencing Primer
(F):5'- GGCTGGCCACAAGAACTTG -3'
(R):5'- AAGCAGGAGCCCTTCTGGATTC -3'
|
Posted On |
2015-06-10 |