Incidental Mutation 'R6465:Inpp5j'
| ID |
517784 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inpp5j
|
| Ensembl Gene |
ENSMUSG00000034570 |
| Gene Name |
inositol polyphosphate 5-phosphatase J |
| Synonyms |
Pipp, Pib5pa |
| MMRRC Submission |
044598-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.564)
|
| Stock # |
R6465 (G1)
|
| Quality Score |
224.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
3494375-3504821 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 3502293 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 319
(R319L)
|
| 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: R319L
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000046625
Gene: ENSMUSG00000034570
AA Change: R319L
| 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 |
probably benign
Transcript: ENSMUST00000148939
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154756
AA Change: R319L
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139302
Gene: ENSMUSG00000034570
AA Change: R319L
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
95% (40/42) |
| 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 |
|---|
| 9230113P08Rik |
A |
T |
9: 35,908,625 (GRCm38) |
N25Y |
possibly damaging |
Het |
| A2ml1 |
G |
A |
6: 128,541,078 (GRCm38) |
T1415I |
probably damaging |
Het |
| Acvr2b |
T |
A |
9: 119,433,303 (GRCm38) |
W461R |
probably damaging |
Het |
| Adam23 |
G |
T |
1: 63,566,668 (GRCm38) |
C637F |
probably damaging |
Het |
| Apol8 |
T |
G |
15: 77,749,948 (GRCm38) |
T143P |
probably benign |
Het |
| Asna1 |
A |
T |
8: 85,018,565 (GRCm38) |
M291K |
probably benign |
Het |
| Bfsp1 |
A |
C |
2: 143,858,055 (GRCm38) |
|
probably null |
Het |
| Cytl1 |
T |
C |
5: 37,737,670 (GRCm38) |
V99A |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,503,413 (GRCm38) |
V793E |
probably damaging |
Het |
| Fxyd5 |
G |
T |
7: 31,037,880 (GRCm38) |
T81K |
probably damaging |
Het |
| Gcm1 |
A |
G |
9: 78,064,869 (GRCm38) |
Y364C |
probably damaging |
Het |
| Gm37596 |
A |
G |
3: 93,692,996 (GRCm38) |
I22T |
probably damaging |
Het |
| Gm9992 |
G |
T |
17: 7,374,443 (GRCm38) |
T202K |
probably damaging |
Het |
| Haghl |
T |
C |
17: 25,783,819 (GRCm38) |
N190S |
possibly damaging |
Het |
| Ints10 |
A |
G |
8: 68,807,536 (GRCm38) |
N304S |
probably benign |
Het |
| Isoc1 |
T |
A |
18: 58,671,256 (GRCm38) |
C119S |
probably damaging |
Het |
| Klhl18 |
A |
G |
9: 110,428,920 (GRCm38) |
M414T |
probably benign |
Het |
| Krtap2-4 |
A |
G |
11: 99,614,759 (GRCm38) |
|
probably benign |
Het |
| Krtap3-1 |
G |
A |
11: 99,566,451 (GRCm38) |
P45S |
possibly damaging |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,232,257 (GRCm38) |
|
probably null |
Het |
| Myo7a |
A |
G |
7: 98,062,680 (GRCm38) |
V1754A |
possibly damaging |
Het |
| Nedd4l |
T |
A |
18: 65,155,264 (GRCm38) |
D119E |
probably benign |
Het |
| Nsun7 |
T |
C |
5: 66,295,586 (GRCm38) |
V548A |
probably benign |
Het |
| Olfr1024 |
A |
T |
2: 85,904,539 (GRCm38) |
S172T |
probably benign |
Het |
| Olfr711 |
A |
T |
7: 106,972,212 (GRCm38) |
V44E |
possibly damaging |
Het |
| Parvg |
A |
G |
15: 84,328,940 (GRCm38) |
D127G |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,041,663 (GRCm38) |
M2007L |
possibly damaging |
Het |
| Pou2f3 |
A |
C |
9: 43,139,867 (GRCm38) |
F175V |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 117,269,589 (GRCm38) |
I958T |
probably damaging |
Het |
| Pwwp2b |
T |
C |
7: 139,256,035 (GRCm38) |
V464A |
probably benign |
Het |
| Pzp |
A |
G |
6: 128,491,619 (GRCm38) |
Y982H |
probably damaging |
Het |
| Rad17 |
T |
A |
13: 100,637,080 (GRCm38) |
N202I |
probably benign |
Het |
| Rtel1 |
T |
A |
2: 181,335,940 (GRCm38) |
D271E |
possibly damaging |
Het |
| Sos2 |
T |
C |
12: 69,596,775 (GRCm38) |
S943G |
probably benign |
Het |
| Tm9sf2 |
A |
G |
14: 122,141,207 (GRCm38) |
H241R |
probably benign |
Het |
| Ttc8 |
A |
G |
12: 98,964,570 (GRCm38) |
E291G |
probably damaging |
Het |
| Wfikkn1 |
A |
G |
17: 25,878,718 (GRCm38) |
C211R |
probably damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,049,802 (GRCm38) |
D1219E |
probably damaging |
Het |
| Zc3hav1 |
T |
C |
6: 38,331,849 (GRCm38) |
Y586C |
possibly damaging |
Het |
| Zcchc4 |
T |
A |
5: 52,819,276 (GRCm38) |
F471I |
probably benign |
Het |
| Zfp719 |
C |
A |
7: 43,590,684 (GRCm38) |
Y565* |
probably null |
Het |
|
| Other mutations in Inpp5j |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Inpp5j
|
APN |
11 |
3,500,009 (GRCm38) |
splice site |
probably benign |
|
|
IGL00435:Inpp5j
|
APN |
11 |
3,502,255 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00509:Inpp5j
|
APN |
11 |
3,501,595 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL00916:Inpp5j
|
APN |
11 |
3,502,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00975:Inpp5j
|
APN |
11 |
3,502,176 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01523:Inpp5j
|
APN |
11 |
3,495,932 (GRCm38) |
splice site |
probably null |
|
|
IGL02472:Inpp5j
|
APN |
11 |
3,495,338 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02512:Inpp5j
|
APN |
11 |
3,499,661 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02897:Inpp5j
|
APN |
11 |
3,500,619 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03408:Inpp5j
|
APN |
11 |
3,502,809 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0048:Inpp5j
|
UTSW |
11 |
3,501,417 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0440:Inpp5j
|
UTSW |
11 |
3,501,150 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0455:Inpp5j
|
UTSW |
11 |
3,503,122 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R0483:Inpp5j
|
UTSW |
11 |
3,499,738 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0554:Inpp5j
|
UTSW |
11 |
3,499,644 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0639:Inpp5j
|
UTSW |
11 |
3,501,147 (GRCm38) |
missense |
probably benign |
0.29 |
|
R0673:Inpp5j
|
UTSW |
11 |
3,501,147 (GRCm38) |
missense |
probably benign |
0.29 |
|
R0926:Inpp5j
|
UTSW |
11 |
3,501,439 (GRCm38) |
splice site |
probably benign |
|
|
R1114:Inpp5j
|
UTSW |
11 |
3,494,814 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R1132:Inpp5j
|
UTSW |
11 |
3,502,305 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R1463:Inpp5j
|
UTSW |
11 |
3,501,147 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1757:Inpp5j
|
UTSW |
11 |
3,504,738 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R1978:Inpp5j
|
UTSW |
11 |
3,502,150 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3078:Inpp5j
|
UTSW |
11 |
3,503,124 (GRCm38) |
splice site |
probably null |
|
|
R3831:Inpp5j
|
UTSW |
11 |
3,500,229 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4012:Inpp5j
|
UTSW |
11 |
3,500,185 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4183:Inpp5j
|
UTSW |
11 |
3,501,134 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4209:Inpp5j
|
UTSW |
11 |
3,501,107 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4210:Inpp5j
|
UTSW |
11 |
3,501,107 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4211:Inpp5j
|
UTSW |
11 |
3,501,107 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4477:Inpp5j
|
UTSW |
11 |
3,501,625 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4729:Inpp5j
|
UTSW |
11 |
3,495,025 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4840:Inpp5j
|
UTSW |
11 |
3,499,676 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5025:Inpp5j
|
UTSW |
11 |
3,500,664 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5151:Inpp5j
|
UTSW |
11 |
3,502,270 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5195:Inpp5j
|
UTSW |
11 |
3,499,889 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5623:Inpp5j
|
UTSW |
11 |
3,494,766 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6262:Inpp5j
|
UTSW |
11 |
3,502,615 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6448:Inpp5j
|
UTSW |
11 |
3,495,387 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6723:Inpp5j
|
UTSW |
11 |
3,500,640 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6895:Inpp5j
|
UTSW |
11 |
3,495,557 (GRCm38) |
splice site |
probably null |
|
|
R7060:Inpp5j
|
UTSW |
11 |
3,500,133 (GRCm38) |
splice site |
probably null |
|
|
R7346:Inpp5j
|
UTSW |
11 |
3,501,065 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8026:Inpp5j
|
UTSW |
11 |
3,495,171 (GRCm38) |
missense |
|
|
|
R8360:Inpp5j
|
UTSW |
11 |
3,499,767 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9706:Inpp5j
|
UTSW |
11 |
3,499,960 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
T0975:Inpp5j
|
UTSW |
11 |
3,502,527 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
Z1176:Inpp5j
|
UTSW |
11 |
3,502,484 (GRCm38) |
nonsense |
probably null |
|
|
Z1177:Inpp5j
|
UTSW |
11 |
3,502,191 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGTTTTGGGAGTGCCAC -3'
(R):5'- TAGACAGAAGGATACCGCAGTTCC -3'
Sequencing Primer
(F):5'- TTTGGGAGTGCCACCTCAG -3'
(R):5'- TGTCTCTACACTCCAGAGCGG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation