Incidental Mutation 'R4183:Inpp5j'
| ID |
319829 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inpp5j
|
| Ensembl Gene |
ENSMUSG00000034570 |
| Gene Name |
inositol polyphosphate 5-phosphatase J |
| Synonyms |
Pipp, Pib5pa |
| MMRRC Submission |
041019-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.495)
|
| Stock # |
R4183 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
3444375-3454821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3451134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 505
(I505T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044507]
[ENSMUST00000044682]
[ENSMUST00000110018]
[ENSMUST00000110019]
[ENSMUST00000154756]
[ENSMUST00000183684]
|
| AlphaFold |
P59644 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044507
AA Change: I505T
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000046625
Gene: ENSMUSG00000034570
AA Change: I505T
| 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: I133T
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154756
AA Change: I505T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139302
Gene: ENSMUSG00000034570
AA Change: I505T
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd11 |
T |
C |
8: 123,626,415 (GRCm39) |
I198V |
possibly damaging |
Het |
| Arhgap12 |
T |
C |
18: 6,111,734 (GRCm39) |
D210G |
probably damaging |
Het |
| Arpc2 |
T |
A |
1: 74,287,322 (GRCm39) |
N31K |
probably damaging |
Het |
| Atp11a |
T |
A |
8: 12,866,990 (GRCm39) |
V139D |
possibly damaging |
Het |
| Bicral |
T |
C |
17: 47,124,955 (GRCm39) |
K615E |
probably damaging |
Het |
| Ccdc27 |
TTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTC |
4: 154,120,763 (GRCm39) |
|
probably benign |
Het |
| Chrnb1 |
T |
C |
11: 69,677,922 (GRCm39) |
M277V |
possibly damaging |
Het |
| Csmd1 |
C |
T |
8: 15,960,464 (GRCm39) |
C3317Y |
probably damaging |
Het |
| Ddx1 |
A |
T |
12: 13,281,504 (GRCm39) |
L353* |
probably null |
Het |
| Degs2 |
T |
C |
12: 108,658,358 (GRCm39) |
K207R |
probably damaging |
Het |
| Fam167a |
T |
C |
14: 63,689,769 (GRCm39) |
V22A |
probably benign |
Het |
| Fam186a |
G |
A |
15: 99,831,566 (GRCm39) |
|
probably benign |
Het |
| Gprc5b |
T |
C |
7: 118,583,749 (GRCm39) |
D40G |
probably benign |
Het |
| Grsf1 |
G |
A |
5: 88,812,015 (GRCm39) |
P271S |
probably benign |
Het |
| Lurap1l |
G |
A |
4: 80,872,095 (GRCm39) |
S196N |
probably benign |
Het |
| Mapk8 |
T |
C |
14: 33,104,177 (GRCm39) |
D413G |
probably damaging |
Het |
| Mapkbp1 |
A |
G |
2: 119,848,346 (GRCm39) |
D632G |
probably damaging |
Het |
| Mcidas |
A |
G |
13: 113,130,906 (GRCm39) |
D77G |
probably damaging |
Het |
| Mdga1 |
A |
G |
17: 30,188,964 (GRCm39) |
V33A |
unknown |
Het |
| Me3 |
A |
G |
7: 89,501,038 (GRCm39) |
D583G |
probably benign |
Het |
| Mndal |
T |
A |
1: 173,703,337 (GRCm39) |
T23S |
possibly damaging |
Het |
| Myh13 |
T |
C |
11: 67,240,436 (GRCm39) |
M780T |
possibly damaging |
Het |
| Nat10 |
A |
G |
2: 103,570,158 (GRCm39) |
L395P |
probably damaging |
Het |
| Naxd |
T |
C |
8: 11,552,757 (GRCm39) |
V59A |
probably damaging |
Het |
| Nbeal2 |
A |
T |
9: 110,465,743 (GRCm39) |
V876E |
probably benign |
Het |
| Or11h4b |
C |
G |
14: 50,918,507 (GRCm39) |
E195Q |
probably benign |
Het |
| Or1o2 |
T |
G |
17: 37,542,739 (GRCm39) |
H174P |
possibly damaging |
Het |
| Or4a39 |
T |
C |
2: 89,236,935 (GRCm39) |
T163A |
probably benign |
Het |
| Or51v8 |
T |
C |
7: 103,320,178 (GRCm39) |
Y20C |
possibly damaging |
Het |
| Or8g50 |
A |
G |
9: 39,648,344 (GRCm39) |
T78A |
probably benign |
Het |
| Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
| Pcsk4 |
C |
T |
10: 80,160,845 (GRCm39) |
R327Q |
probably benign |
Het |
| Pkhd1 |
C |
T |
1: 20,188,031 (GRCm39) |
V3426I |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,301,488 (GRCm39) |
F687L |
possibly damaging |
Het |
| Rb1 |
A |
G |
14: 73,435,966 (GRCm39) |
|
probably null |
Het |
| Tfpi2 |
C |
A |
6: 3,963,926 (GRCm39) |
V51L |
probably damaging |
Het |
| Tnn |
T |
C |
1: 159,924,925 (GRCm39) |
D1143G |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,541,586 (GRCm39) |
M25473T |
probably benign |
Het |
| Vmn1r201 |
A |
G |
13: 22,659,022 (GRCm39) |
I79V |
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
| Wdr25 |
T |
A |
12: 108,993,257 (GRCm39) |
F491Y |
probably benign |
Het |
| Zfp972 |
G |
A |
2: 177,563,250 (GRCm39) |
Q56* |
probably null |
Het |
| Zfp982 |
A |
G |
4: 147,597,150 (GRCm39) |
K169R |
probably benign |
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 |
|
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'- TTAAGCCAGGATGAGTTCTAAGG -3'
(R):5'- ACACCCTTGTGAGAAGCAGG -3'
Sequencing Primer
(F):5'- CGTAGAAATGGATGGTGCTTG -3'
(R):5'- AAGCAGGAGCCCTTCTGGATTC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation