Incidental Mutation 'R6448:Inpp5j'
| ID |
519258 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inpp5j
|
| Ensembl Gene |
ENSMUSG00000034570 |
| Gene Name |
inositol polyphosphate 5-phosphatase J |
| Synonyms |
Pipp, Pib5pa |
| MMRRC Submission |
044584-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.495)
|
| Stock # |
R6448 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
3444375-3454821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3445387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 822
(H822R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044507]
[ENSMUST00000044682]
[ENSMUST00000064265]
[ENSMUST00000110018]
[ENSMUST00000110019]
[ENSMUST00000154756]
[ENSMUST00000183684]
|
| AlphaFold |
P59644 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044507
AA Change: H822R
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000046625
Gene: ENSMUSG00000034570
AA Change: H822R
| 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: ENSMUST00000064265
|
| SMART Domains |
Protein: ENSMUSP00000068699
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 |
426 |
5.1e-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: H450R
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151860
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154756
AA Change: H822R
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139302
Gene: ENSMUSG00000034570
AA Change: H822R
| 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 |
0.1714 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
97% (32/33) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap5 |
A |
T |
12: 52,564,446 (GRCm39) |
K472N |
probably benign |
Het |
| C2 |
T |
G |
17: 35,082,335 (GRCm39) |
D298A |
possibly damaging |
Het |
| Col16a1 |
T |
G |
4: 129,952,781 (GRCm39) |
L409R |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 70,900,325 (GRCm39) |
E380G |
possibly damaging |
Het |
| Fam111a |
C |
A |
19: 12,565,701 (GRCm39) |
H483Q |
probably benign |
Het |
| Fancc |
C |
T |
13: 63,488,242 (GRCm39) |
R246Q |
probably damaging |
Het |
| Glb1 |
A |
T |
9: 114,263,499 (GRCm39) |
Q256L |
probably damaging |
Het |
| Gm9195 |
A |
T |
14: 72,671,451 (GRCm39) |
D2611E |
possibly damaging |
Het |
| Gsto1 |
C |
T |
19: 47,846,420 (GRCm39) |
T89I |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,310,832 (GRCm39) |
S3359G |
probably benign |
Het |
| Hook3 |
T |
A |
8: 26,583,692 (GRCm39) |
N87I |
probably benign |
Het |
| Htt |
T |
A |
5: 35,033,336 (GRCm39) |
M1868K |
probably benign |
Het |
| Ighv1-19 |
T |
C |
12: 114,672,296 (GRCm39) |
E107G |
probably damaging |
Het |
| Il20rb |
A |
T |
9: 100,356,986 (GRCm39) |
M48K |
probably benign |
Het |
| Kif14 |
G |
T |
1: 136,431,085 (GRCm39) |
V1161F |
probably damaging |
Het |
| Klhdc2 |
T |
A |
12: 69,350,694 (GRCm39) |
D169E |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,129,389 (GRCm39) |
|
probably null |
Het |
| Myh15 |
T |
G |
16: 48,992,295 (GRCm39) |
S1590A |
probably damaging |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,038,826 (GRCm39) |
D6748G |
probably damaging |
Het |
| Nfrkb |
T |
C |
9: 31,306,085 (GRCm39) |
Y142H |
probably damaging |
Het |
| Or6c208 |
A |
T |
10: 129,224,021 (GRCm39) |
D173V |
probably damaging |
Het |
| Or7a39 |
G |
A |
10: 78,715,516 (GRCm39) |
C170Y |
possibly damaging |
Het |
| Or8k20 |
T |
A |
2: 86,106,691 (GRCm39) |
I47F |
probably benign |
Het |
| Prm2 |
G |
A |
16: 10,609,825 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,766,446 (GRCm39) |
T1283A |
probably benign |
Het |
| Rest |
T |
C |
5: 77,429,318 (GRCm39) |
L579P |
possibly damaging |
Het |
| Slc6a1 |
C |
T |
6: 114,279,047 (GRCm39) |
T46I |
possibly damaging |
Het |
| Tcf20 |
A |
G |
15: 82,736,861 (GRCm39) |
I1530T |
probably benign |
Het |
| Tox |
T |
G |
4: 6,822,975 (GRCm39) |
D114A |
probably benign |
Het |
| Ulk4 |
C |
T |
9: 120,932,696 (GRCm39) |
G1048D |
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 |
|
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 |
|
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'- TGGGGCAACTCCACTCTTTAG -3'
(R):5'- TTACGTCTGGGCCAAGCATG -3'
Sequencing Primer
(F):5'- GCAACTCCACTCTTTAGCCTGC -3'
(R):5'- TATCTACCAGGTACTTACAAGAAGGG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation