Incidental Mutation 'R0440:Inpp5j'
| ID |
46702 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inpp5j
|
| Ensembl Gene |
ENSMUSG00000034570 |
| Gene Name |
inositol polyphosphate 5-phosphatase J |
| Synonyms |
Pipp, Pib5pa |
| MMRRC Submission |
038641-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.495)
|
| Stock # |
R0440 (G1)
|
| Quality Score |
186 |
|
Status
|
Validated
(trace)
|
| Chromosome |
11 |
| Chromosomal Location |
3444375-3454821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3451150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 500
(R500G)
|
| 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: R500G
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000046625
Gene: ENSMUSG00000034570
AA Change: R500G
| 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: R128G
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154756
AA Change: R500G
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139302
Gene: ENSMUSG00000034570
AA Change: R500G
| 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 |
0.7551 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
99% (68/69) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
G |
A |
15: 83,112,694 (GRCm39) |
R30W |
probably damaging |
Het |
| Adam7 |
T |
C |
14: 68,748,305 (GRCm39) |
|
probably null |
Het |
| Agl |
A |
T |
3: 116,552,455 (GRCm39) |
L1158Q |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,114,569 (GRCm39) |
S66P |
probably damaging |
Het |
| Akr1c20 |
T |
A |
13: 4,537,207 (GRCm39) |
D316V |
probably benign |
Het |
| App |
C |
A |
16: 84,853,302 (GRCm39) |
E259* |
probably null |
Het |
| Arhgef4 |
A |
G |
1: 34,784,529 (GRCm39) |
|
probably null |
Het |
| Armc9 |
G |
A |
1: 86,121,984 (GRCm39) |
|
probably null |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Btaf1 |
C |
T |
19: 36,964,053 (GRCm39) |
P875S |
probably damaging |
Het |
| Cc2d1b |
T |
A |
4: 108,483,013 (GRCm39) |
|
probably null |
Het |
| Ccar1 |
C |
T |
10: 62,616,236 (GRCm39) |
V165I |
possibly damaging |
Het |
| Ccdc106 |
A |
T |
7: 5,063,244 (GRCm39) |
I250F |
probably damaging |
Het |
| Ccny |
T |
C |
18: 9,332,917 (GRCm39) |
I205V |
probably benign |
Het |
| Cfap52 |
T |
A |
11: 67,844,914 (GRCm39) |
I52L |
probably benign |
Het |
| Chd8 |
T |
A |
14: 52,442,283 (GRCm39) |
T2096S |
possibly damaging |
Het |
| Clstn3 |
G |
A |
6: 124,428,372 (GRCm39) |
T423I |
probably damaging |
Het |
| Col13a1 |
T |
C |
10: 61,703,262 (GRCm39) |
D440G |
possibly damaging |
Het |
| Dclk3 |
G |
A |
9: 111,298,231 (GRCm39) |
V592M |
probably damaging |
Het |
| Ddx31 |
A |
T |
2: 28,747,144 (GRCm39) |
I208F |
probably damaging |
Het |
| Dlat |
A |
T |
9: 50,556,419 (GRCm39) |
|
probably null |
Het |
| Eml4 |
T |
C |
17: 83,753,487 (GRCm39) |
|
probably null |
Het |
| Enpp2 |
T |
A |
15: 54,710,633 (GRCm39) |
|
probably benign |
Het |
| Fryl |
T |
C |
5: 73,244,315 (GRCm39) |
S38G |
possibly damaging |
Het |
| Gcnt1 |
G |
A |
19: 17,307,680 (GRCm39) |
T15I |
probably benign |
Het |
| Gm21834 |
T |
C |
17: 58,049,121 (GRCm39) |
T32A |
possibly damaging |
Het |
| Golga2 |
A |
G |
2: 32,192,945 (GRCm39) |
D394G |
probably damaging |
Het |
| Gtf3c4 |
G |
T |
2: 28,730,181 (GRCm39) |
|
probably null |
Het |
| Igkv4-69 |
A |
G |
6: 69,261,253 (GRCm39) |
|
probably benign |
Het |
| Kif5b |
A |
T |
18: 6,226,980 (GRCm39) |
|
probably benign |
Het |
| Klhl36 |
A |
G |
8: 120,603,290 (GRCm39) |
E515G |
probably damaging |
Het |
| Lifr |
C |
T |
15: 7,186,672 (GRCm39) |
R59* |
probably null |
Het |
| Lrif1 |
A |
T |
3: 106,641,714 (GRCm39) |
Q10L |
possibly damaging |
Het |
| Lrp8 |
A |
G |
4: 107,726,295 (GRCm39) |
E908G |
probably damaging |
Het |
| Lrrc23 |
A |
T |
6: 124,747,667 (GRCm39) |
D307E |
probably benign |
Het |
| Mpv17l |
T |
C |
16: 13,762,583 (GRCm39) |
F27L |
probably damaging |
Het |
| Mta3 |
C |
T |
17: 84,074,016 (GRCm39) |
A76V |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,345,771 (GRCm39) |
Y202* |
probably null |
Het |
| Naprt |
A |
G |
15: 75,762,918 (GRCm39) |
|
probably benign |
Het |
| Npr2 |
T |
A |
4: 43,650,315 (GRCm39) |
V960D |
probably damaging |
Het |
| Oca2 |
A |
T |
7: 56,073,100 (GRCm39) |
Y765F |
probably benign |
Het |
| Or2d2 |
A |
T |
7: 106,727,939 (GRCm39) |
H220Q |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,326,712 (GRCm39) |
Y215* |
probably null |
Het |
| Prdm16 |
G |
A |
4: 154,561,084 (GRCm39) |
|
probably benign |
Het |
| Ptn |
A |
G |
6: 36,721,432 (GRCm39) |
S3P |
probably benign |
Het |
| Pus10 |
T |
C |
11: 23,623,331 (GRCm39) |
|
probably benign |
Het |
| Rad21 |
A |
T |
15: 51,831,754 (GRCm39) |
D442E |
probably benign |
Het |
| Rmdn2 |
A |
G |
17: 79,975,384 (GRCm39) |
H291R |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,415,863 (GRCm39) |
S1750P |
probably damaging |
Het |
| Samd4b |
A |
T |
7: 28,107,585 (GRCm39) |
I228N |
probably benign |
Het |
| Sdr9c7 |
G |
T |
10: 127,734,822 (GRCm39) |
|
probably benign |
Het |
| Slc13a2 |
T |
C |
11: 78,294,001 (GRCm39) |
N254D |
probably benign |
Het |
| Slc16a8 |
T |
A |
15: 79,136,807 (GRCm39) |
I132F |
probably damaging |
Het |
| Slc18b1 |
T |
A |
10: 23,694,976 (GRCm39) |
Y274N |
probably benign |
Het |
| Slc45a2 |
A |
T |
15: 11,000,903 (GRCm39) |
M1L |
probably benign |
Het |
| Smc1b |
A |
G |
15: 84,996,874 (GRCm39) |
|
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,785,792 (GRCm39) |
S617G |
probably benign |
Het |
| Stk10 |
A |
G |
11: 32,554,190 (GRCm39) |
M626V |
probably damaging |
Het |
| Synpo2l |
T |
G |
14: 20,711,466 (GRCm39) |
I385L |
possibly damaging |
Het |
| Tmprss11d |
T |
C |
5: 86,486,671 (GRCm39) |
Y73C |
probably damaging |
Het |
| Ttc21b |
A |
G |
2: 66,066,726 (GRCm39) |
V309A |
probably benign |
Het |
| Tubgcp6 |
A |
G |
15: 88,987,268 (GRCm39) |
I1235T |
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,567,310 (GRCm39) |
I110V |
probably benign |
Het |
| Vps13c |
G |
A |
9: 67,880,143 (GRCm39) |
G3442S |
probably damaging |
Het |
| Wdr59 |
GGGTGGTG |
GGGTG |
8: 112,207,172 (GRCm39) |
|
probably benign |
Het |
| Zfp207 |
T |
A |
11: 80,286,333 (GRCm39) |
|
probably benign |
Het |
| Zfp748 |
A |
C |
13: 67,701,144 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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'- AGGCTGCTAAGCGCACACTTAC -3'
(R):5'- GCGGCTCAAGGATGCTCTCTTTAC -3'
Sequencing Primer
(F):5'- TTTAAGCCAGGATGAGTTCTAAGG -3'
(R):5'- AAGGATGCTCTCTTTACTGACCAG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation