Incidental Mutation 'R7346:Inpp5j'
ID |
570210 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inpp5j
|
Ensembl Gene |
ENSMUSG00000034570 |
Gene Name |
inositol polyphosphate 5-phosphatase J |
Synonyms |
Pipp, Pib5pa |
MMRRC Submission |
045373-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.495)
|
Stock # |
R7346 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
3444375-3454821 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 3451065 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 528
(T528I)
|
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: T528I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000046625 Gene: ENSMUSG00000034570 AA Change: T528I
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000154756
AA Change: T528I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139302 Gene: ENSMUSG00000034570 AA Change: T528I
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: 100.0%
- 10x: 99.8%
- 20x: 99.1%
|
Validation Efficiency |
100% (71/71) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
G |
A |
9: 55,914,587 (GRCm39) |
P52S |
unknown |
Het |
Adarb2 |
A |
G |
13: 8,620,420 (GRCm39) |
E302G |
probably damaging |
Het |
Adgrf5 |
T |
A |
17: 43,762,070 (GRCm39) |
L1255H |
probably damaging |
Het |
Adra1a |
T |
A |
14: 66,875,733 (GRCm39) |
I236N |
probably benign |
Het |
As3mt |
T |
C |
19: 46,708,891 (GRCm39) |
F295S |
probably damaging |
Het |
Bmp5 |
G |
A |
9: 75,780,642 (GRCm39) |
R313Q |
probably damaging |
Het |
Ccnj |
T |
A |
19: 40,833,394 (GRCm39) |
S191T |
probably benign |
Het |
Clk2 |
T |
A |
3: 89,080,852 (GRCm39) |
|
probably null |
Het |
Cpz |
T |
C |
5: 35,675,000 (GRCm39) |
E83G |
probably damaging |
Het |
Cts3 |
A |
G |
13: 61,715,434 (GRCm39) |
I133T |
probably benign |
Het |
Dars2 |
C |
T |
1: 160,874,342 (GRCm39) |
|
probably null |
Het |
Dsel |
A |
T |
1: 111,788,798 (GRCm39) |
V579D |
probably damaging |
Het |
Dync1h1 |
C |
A |
12: 110,602,076 (GRCm39) |
A2038E |
probably damaging |
Het |
Eaf1 |
A |
G |
14: 31,216,777 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
A |
C |
2: 82,828,524 (GRCm39) |
I6774L |
probably benign |
Het |
Glis2 |
T |
C |
16: 4,431,432 (GRCm39) |
F320L |
possibly damaging |
Het |
Hcar1 |
A |
G |
5: 124,017,693 (GRCm39) |
|
probably benign |
Het |
Hectd1 |
A |
T |
12: 51,797,104 (GRCm39) |
H2211Q |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,559,496 (GRCm39) |
I2385T |
probably damaging |
Het |
Ifi44 |
T |
A |
3: 151,438,094 (GRCm39) |
M398L |
probably benign |
Het |
Il16 |
C |
T |
7: 83,293,249 (GRCm39) |
E1273K |
probably damaging |
Het |
Kbtbd6 |
C |
T |
14: 79,690,627 (GRCm39) |
P441S |
probably damaging |
Het |
Kcnt1 |
C |
T |
2: 25,753,855 (GRCm39) |
|
probably benign |
Het |
Kif26b |
T |
C |
1: 178,358,306 (GRCm39) |
L139P |
probably damaging |
Het |
Klb |
C |
T |
5: 65,505,974 (GRCm39) |
Q74* |
probably null |
Het |
L3mbtl1 |
G |
A |
2: 162,808,926 (GRCm39) |
V600I |
probably benign |
Het |
Lcp1 |
C |
T |
14: 75,447,946 (GRCm39) |
A317V |
possibly damaging |
Het |
Lipc |
C |
T |
9: 70,720,029 (GRCm39) |
G326D |
probably damaging |
Het |
Mbnl2 |
T |
A |
14: 120,616,694 (GRCm39) |
F103I |
probably benign |
Het |
Mdm1 |
G |
T |
10: 118,000,193 (GRCm39) |
E609* |
probably null |
Het |
Med16 |
A |
G |
10: 79,744,650 (GRCm39) |
|
probably null |
Het |
Mga |
T |
C |
2: 119,766,008 (GRCm39) |
V1424A |
possibly damaging |
Het |
Mocs2 |
G |
T |
13: 114,964,710 (GRCm39) |
|
probably null |
Het |
Morc1 |
C |
T |
16: 48,451,263 (GRCm39) |
|
probably null |
Het |
Mpc2 |
T |
A |
1: 165,307,080 (GRCm39) |
W94R |
probably damaging |
Het |
Mrm3 |
G |
A |
11: 76,141,002 (GRCm39) |
V337I |
possibly damaging |
Het |
N4bp3 |
T |
C |
11: 51,536,433 (GRCm39) |
H133R |
probably benign |
Het |
Ncam2 |
G |
T |
16: 81,420,256 (GRCm39) |
G810V |
probably damaging |
Het |
Nipbl |
T |
C |
15: 8,373,090 (GRCm39) |
E1052G |
possibly damaging |
Het |
Nlrp12 |
C |
T |
7: 3,297,887 (GRCm39) |
V95M |
probably damaging |
Het |
Nrip1 |
T |
C |
16: 76,090,244 (GRCm39) |
N438D |
possibly damaging |
Het |
Nsun4 |
C |
A |
4: 115,909,035 (GRCm39) |
M508I |
probably benign |
Het |
Pla2g2c |
T |
C |
4: 138,461,650 (GRCm39) |
S40P |
probably damaging |
Het |
Plec |
A |
G |
15: 76,082,178 (GRCm39) |
|
probably null |
Het |
Ppfia2 |
G |
T |
10: 106,693,356 (GRCm39) |
M620I |
possibly damaging |
Het |
Ppp6c |
A |
G |
2: 39,116,229 (GRCm39) |
Y9H |
probably damaging |
Het |
Prkd1 |
A |
T |
12: 50,695,617 (GRCm39) |
I47N |
possibly damaging |
Het |
Prr14l |
T |
C |
5: 32,988,028 (GRCm39) |
D489G |
probably benign |
Het |
Ptch2 |
T |
A |
4: 116,971,849 (GRCm39) |
Y1124N |
probably benign |
Het |
Ptpra |
T |
G |
2: 130,395,320 (GRCm39) |
Y808D |
probably damaging |
Het |
Rint1 |
T |
A |
5: 24,020,651 (GRCm39) |
F558Y |
possibly damaging |
Het |
Rnf215 |
T |
A |
11: 4,089,792 (GRCm39) |
C268* |
probably null |
Het |
Slc25a13 |
T |
C |
6: 6,181,100 (GRCm39) |
E28G |
possibly damaging |
Het |
Slc38a8 |
G |
T |
8: 120,226,554 (GRCm39) |
Y78* |
probably null |
Het |
Slc4a7 |
T |
C |
14: 14,775,000 (GRCm38) |
M810T |
probably damaging |
Het |
Slitrk1 |
A |
G |
14: 109,150,591 (GRCm39) |
V40A |
possibly damaging |
Het |
Sobp |
A |
T |
10: 42,898,831 (GRCm39) |
S251R |
probably damaging |
Het |
Spata31d1a |
G |
A |
13: 59,851,015 (GRCm39) |
S371L |
probably benign |
Het |
Tada2b |
T |
C |
5: 36,634,180 (GRCm39) |
T133A |
possibly damaging |
Het |
Tbc1d20 |
A |
G |
2: 152,146,881 (GRCm39) |
D90G |
probably benign |
Het |
Tek |
T |
A |
4: 94,715,533 (GRCm39) |
I408K |
probably benign |
Het |
Tgfb2 |
A |
G |
1: 186,382,077 (GRCm39) |
F150S |
probably benign |
Het |
Tmem63b |
T |
C |
17: 45,977,517 (GRCm39) |
T370A |
probably benign |
Het |
Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
Tspan17 |
C |
G |
13: 54,940,434 (GRCm39) |
L34V |
probably benign |
Het |
Vmn1r238 |
A |
T |
18: 3,123,151 (GRCm39) |
Y88N |
probably damaging |
Het |
Vmn1r85 |
A |
G |
7: 12,818,964 (GRCm39) |
I60T |
probably damaging |
Het |
Vmn2r96 |
T |
C |
17: 18,803,029 (GRCm39) |
M313T |
probably benign |
Het |
Zp3r |
G |
A |
1: 130,511,217 (GRCm39) |
S387F |
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 |
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 |
|
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'- TTGACAGGTCATGAGCCTGAC -3'
(R):5'- ACTGCTGGGTGTCCCTATTG -3'
Sequencing Primer
(F):5'- GGCTGGCCACAAGAACTTG -3'
(R):5'- CCTATTGCCAGGGTAGGGAG -3'
|
Posted On |
2019-09-13 |