Incidental Mutation 'RF001:Inpp5f'
| ID |
602507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inpp5f
|
| Ensembl Gene |
ENSMUSG00000042105 |
| Gene Name |
inositol polyphosphate-5-phosphatase F |
| Synonyms |
cI-27, 5830435P03Rik, SAC2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
RF001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
128213052-128298149 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 128296807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 1053
(G1053R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043138]
[ENSMUST00000057557]
[ENSMUST00000118605]
[ENSMUST00000119081]
[ENSMUST00000151237]
[ENSMUST00000202419]
|
| AlphaFold |
Q8CDA1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043138
AA Change: G1053R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045910
Gene: ENSMUSG00000042105
AA Change: G1053R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Syja_N
|
49 |
416 |
1.2e-85 |
PFAM |
|
Blast:IPPc
|
449 |
568 |
6e-13 |
BLAST |
|
Pfam:hSac2
|
590 |
698 |
9.1e-25 |
PFAM |
|
low complexity region
|
1042 |
1054 |
N/A |
INTRINSIC |
|
low complexity region
|
1059 |
1065 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057557
|
| SMART Domains |
Protein: ENSMUSP00000062843
Gene: ENSMUSG00000048170
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCM_bind
|
37 |
166 |
1.6e-44 |
PFAM |
|
Pfam:Racemase_4
|
352 |
451 |
1.5e-38 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118605
AA Change: G426R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113700
Gene: ENSMUSG00000042105
AA Change: G426R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:hSac2
|
1 |
73 |
8.9e-21 |
PFAM |
|
low complexity region
|
415 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
438 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119081
|
| SMART Domains |
Protein: ENSMUSP00000113961
Gene: ENSMUSG00000048170
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCM_bind
|
36 |
588 |
3.6e-210 |
PFAM |
|
low complexity region
|
603 |
623 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151237
AA Change: G362R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202419
|
| SMART Domains |
Protein: ENSMUSP00000143952
Gene: ENSMUSG00000042105
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
22 |
N/A |
INTRINSIC |
|
Pfam:VMA21
|
30 |
84 |
9.9e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit increased isoproterenol-induced cardiac hypertrophy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
G |
GTGGCTGCTA |
1: 82,891,311 (GRCm39) |
|
probably benign |
Het |
| Acer1 |
A |
G |
17: 57,265,909 (GRCm39) |
V122A |
probably benign |
Het |
| Adam34l |
T |
G |
8: 44,079,942 (GRCm39) |
D94A |
possibly damaging |
Het |
| Ankhd1 |
GGCGGC |
GGCGGCAGCGGC |
18: 36,693,974 (GRCm39) |
|
probably benign |
Het |
| Ankrd24 |
C |
CGGAGGCAGAGGA |
10: 81,479,405 (GRCm39) |
|
probably benign |
Het |
| Atp13a1 |
C |
A |
8: 70,252,720 (GRCm39) |
A680D |
probably damaging |
Het |
| Blm |
CGCCTCCTCCTC |
CGCCTCCTCCTCAGCCTCCTCCTC |
7: 80,162,651 (GRCm39) |
|
probably benign |
Het |
| Blm |
CTCCTCC |
CTCCTCCTCCTCGTCCTCC |
7: 80,162,675 (GRCm39) |
|
probably benign |
Het |
| Blm |
CTCCTCCTCCTCCTCCTCCTCCTC |
CTCCTCCTCCTCATCCTCCTCCTCCTCCTCCTCCTC |
7: 80,162,654 (GRCm39) |
|
probably benign |
Het |
| Cad |
GT |
G |
5: 31,217,556 (GRCm39) |
|
probably benign |
Het |
| Calhm1 |
GC |
GCTGTGGCTGTGTC |
19: 47,129,715 (GRCm39) |
|
probably benign |
Het |
| Casz1 |
CACA |
C |
4: 149,036,761 (GRCm39) |
|
probably benign |
Het |
| Cherp |
GACCTGGA |
G |
8: 73,215,893 (GRCm39) |
|
probably null |
Het |
| Chga |
AGC |
AGCTGC |
12: 102,527,682 (GRCm39) |
|
probably benign |
Het |
| Coq7 |
A |
G |
7: 118,132,405 (GRCm39) |
S24P |
probably benign |
Het |
| Cul1 |
T |
C |
6: 47,501,515 (GRCm39) |
V734A |
possibly damaging |
Het |
| Cyb5r4 |
GCCCAGGGATGTGACAGACACACT |
GCCCAGGGATGTGACAGACACACTCCCCAGGGATGTGACAGACACACT |
9: 86,922,469 (GRCm39) |
|
probably benign |
Het |
| Dgkz |
A |
T |
2: 91,770,286 (GRCm39) |
F521I |
possibly damaging |
Het |
| Fam171b |
GCAGCA |
GCAGCATCAGCA |
2: 83,643,230 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
T |
G |
8: 45,442,003 (GRCm39) |
S1102A |
probably benign |
Het |
| Gab3 |
CTT |
CTTTTT |
X: 74,043,624 (GRCm39) |
|
probably benign |
Het |
| Gm14412 |
T |
C |
2: 177,008,894 (GRCm39) |
I52V |
probably benign |
Het |
| Gm5414 |
T |
C |
15: 101,536,388 (GRCm39) |
E79G |
probably benign |
Het |
| Gpc5 |
G |
A |
14: 115,654,590 (GRCm39) |
S470N |
probably benign |
Het |
| Grin2b |
A |
G |
6: 136,021,238 (GRCm39) |
V21A |
probably benign |
Het |
| Hecw1 |
C |
A |
13: 14,472,009 (GRCm39) |
C553F |
probably damaging |
Het |
| Hsd3b6 |
T |
A |
3: 98,713,756 (GRCm39) |
H181L |
probably benign |
Het |
| Il2 |
CCAGGTGCTGCTGC |
CC |
3: 37,179,911 (GRCm39) |
|
probably benign |
Het |
| Kcnma1 |
T |
G |
14: 23,361,765 (GRCm39) |
Y1142S |
probably damaging |
Het |
| Kctd8 |
T |
C |
5: 69,267,775 (GRCm39) |
K445R |
possibly damaging |
Het |
| Kmt2b |
CC |
CCTCCTTC |
7: 30,285,807 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
TG |
TGTTGCGG |
5: 25,520,773 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CACCAC |
CACCACCGCCACCGCAACCAC |
1: 83,020,003 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CACAGCCACAGCCACCACAGCCACAGCCAC |
CACAGCCACAGCCACAACAGCCACAGCCACCACAGCCACAGCCAC |
1: 83,019,976 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
GCCACCACAGC |
GCCACCACAGCCACATCCACCACAGC |
1: 83,020,001 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,059,897 (GRCm39) |
D662G |
|
Het |
| Lce1m |
AC |
ACTGCTGCTGCCCC |
3: 92,925,459 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
GCTGCCACC |
GCTGCCACCACTCCTGCCACC |
3: 92,925,576 (GRCm39) |
|
probably benign |
Het |
| Lmo4 |
A |
C |
3: 143,907,623 (GRCm39) |
S63A |
possibly damaging |
Het |
| Lrrk2 |
T |
C |
15: 91,620,836 (GRCm39) |
I952T |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,810,426 (GRCm39) |
F699L |
probably benign |
Het |
| Matn3 |
T |
A |
12: 9,008,797 (GRCm39) |
D303E |
probably benign |
Het |
| Me1 |
A |
G |
9: 86,464,876 (GRCm39) |
Y545H |
probably damaging |
Het |
| Mettl3 |
A |
T |
14: 52,537,756 (GRCm39) |
V68E |
probably benign |
Het |
| Mptx2 |
T |
C |
1: 173,102,536 (GRCm39) |
N51S |
probably benign |
Het |
| Mylk |
A |
G |
16: 34,699,741 (GRCm39) |
D368G |
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,131,418 (GRCm39) |
V372A |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,085,433 (GRCm39) |
D5569G |
probably damaging |
Het |
| Nefh |
GGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGACTTGGCCTCACCTGCGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,030 (GRCm39) |
|
probably benign |
Het |
| P4ha2 |
CCAGGTG |
C |
11: 54,001,061 (GRCm39) |
|
probably benign |
Het |
| Pop1 |
G |
A |
15: 34,502,583 (GRCm39) |
G90D |
probably damaging |
Het |
| Rbm12 |
CC |
CCGGGTATTGTGGGACCAGTTATTGCGGGAGC |
2: 155,937,995 (GRCm39) |
|
probably benign |
Het |
| Sertad4 |
T |
C |
1: 192,529,486 (GRCm39) |
Y110C |
probably damaging |
Het |
| Setd1a |
GGTAGTGGT |
GGTAGTGGTAGTAGTGGT |
7: 127,384,486 (GRCm39) |
|
probably benign |
Het |
| Smarca2 |
AGC |
AGCCCCGGC |
19: 26,608,421 (GRCm39) |
|
probably benign |
Het |
| Smarca2 |
ACA |
ACAACAGCA |
19: 26,608,386 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
AGCA |
AGCACCCGCA |
3: 54,635,083 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
AGC |
AGCCGC |
18: 60,968,811 (GRCm39) |
|
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,154,204 (GRCm39) |
F83S |
probably damaging |
Het |
| Triobp |
GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA |
GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA |
15: 78,851,227 (GRCm39) |
|
probably benign |
Het |
| Vmn1r48 |
A |
T |
6: 90,013,186 (GRCm39) |
M213K |
probably benign |
Het |
| Zc3h4 |
CCC |
CCCTGACATGCATCC |
7: 16,163,612 (GRCm39) |
|
probably benign |
Het |
| Zscan29 |
T |
C |
2: 120,994,477 (GRCm39) |
N503D |
possibly damaging |
Het |
|
| Other mutations in Inpp5f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00650:Inpp5f
|
APN |
7 |
128,265,991 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01316:Inpp5f
|
APN |
7 |
128,292,430 (GRCm39) |
splice site |
probably benign |
|
|
IGL01455:Inpp5f
|
APN |
7 |
128,279,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01471:Inpp5f
|
APN |
7 |
128,277,122 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01590:Inpp5f
|
APN |
7 |
128,266,031 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01942:Inpp5f
|
APN |
7 |
128,269,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02092:Inpp5f
|
APN |
7 |
128,286,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02137:Inpp5f
|
APN |
7 |
128,296,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02664:Inpp5f
|
APN |
7 |
128,265,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02812:Inpp5f
|
APN |
7 |
128,284,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02942:Inpp5f
|
APN |
7 |
128,296,624 (GRCm39) |
missense |
probably benign |
0.29 |
|
PIT4480001:Inpp5f
|
UTSW |
7 |
128,286,858 (GRCm39) |
missense |
probably benign |
0.32 |
|
PIT4812001:Inpp5f
|
UTSW |
7 |
128,294,032 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0243:Inpp5f
|
UTSW |
7 |
128,296,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0346:Inpp5f
|
UTSW |
7 |
128,292,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1186:Inpp5f
|
UTSW |
7 |
128,296,307 (GRCm39) |
missense |
probably benign |
|
|
R1375:Inpp5f
|
UTSW |
7 |
128,265,753 (GRCm39) |
nonsense |
probably null |
|
|
R1918:Inpp5f
|
UTSW |
7 |
128,265,693 (GRCm39) |
splice site |
probably benign |
|
|
R2307:Inpp5f
|
UTSW |
7 |
128,296,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3716:Inpp5f
|
UTSW |
7 |
128,292,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4157:Inpp5f
|
UTSW |
7 |
128,281,423 (GRCm39) |
intron |
probably benign |
|
|
R4647:Inpp5f
|
UTSW |
7 |
128,260,833 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4705:Inpp5f
|
UTSW |
7 |
128,265,711 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4713:Inpp5f
|
UTSW |
7 |
128,265,449 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4818:Inpp5f
|
UTSW |
7 |
128,286,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4914:Inpp5f
|
UTSW |
7 |
128,286,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Inpp5f
|
UTSW |
7 |
128,286,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4917:Inpp5f
|
UTSW |
7 |
128,286,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5069:Inpp5f
|
UTSW |
7 |
128,278,451 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5181:Inpp5f
|
UTSW |
7 |
128,281,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5234:Inpp5f
|
UTSW |
7 |
128,265,407 (GRCm39) |
missense |
probably benign |
|
|
R6299:Inpp5f
|
UTSW |
7 |
128,237,884 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6389:Inpp5f
|
UTSW |
7 |
128,279,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6530:Inpp5f
|
UTSW |
7 |
128,265,802 (GRCm39) |
nonsense |
probably null |
|
|
R6545:Inpp5f
|
UTSW |
7 |
128,296,280 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7259:Inpp5f
|
UTSW |
7 |
128,271,681 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7383:Inpp5f
|
UTSW |
7 |
128,296,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7427:Inpp5f
|
UTSW |
7 |
128,281,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7428:Inpp5f
|
UTSW |
7 |
128,281,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7679:Inpp5f
|
UTSW |
7 |
128,296,247 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7809:Inpp5f
|
UTSW |
7 |
128,269,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7840:Inpp5f
|
UTSW |
7 |
128,296,526 (GRCm39) |
missense |
probably benign |
|
|
R7912:Inpp5f
|
UTSW |
7 |
128,294,037 (GRCm39) |
missense |
probably benign |
|
|
R7915:Inpp5f
|
UTSW |
7 |
128,269,433 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7960:Inpp5f
|
UTSW |
7 |
128,295,638 (GRCm39) |
splice site |
probably null |
|
|
R8027:Inpp5f
|
UTSW |
7 |
128,292,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8154:Inpp5f
|
UTSW |
7 |
128,265,991 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8213:Inpp5f
|
UTSW |
7 |
128,281,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9499:Inpp5f
|
UTSW |
7 |
128,295,437 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9519:Inpp5f
|
UTSW |
7 |
128,278,515 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9544:Inpp5f
|
UTSW |
7 |
128,278,515 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9597:Inpp5f
|
UTSW |
7 |
128,278,515 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9598:Inpp5f
|
UTSW |
7 |
128,278,515 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9634:Inpp5f
|
UTSW |
7 |
128,278,515 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9701:Inpp5f
|
UTSW |
7 |
128,278,515 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9702:Inpp5f
|
UTSW |
7 |
128,278,515 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9784:Inpp5f
|
UTSW |
7 |
128,278,515 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9802:Inpp5f
|
UTSW |
7 |
128,278,515 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9803:Inpp5f
|
UTSW |
7 |
128,278,515 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
X0061:Inpp5f
|
UTSW |
7 |
128,284,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Inpp5f
|
UTSW |
7 |
128,296,673 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGACTAACCGTGTGTCTAATGAAG -3'
(R):5'- TCGTGTCTGGCATTGTGTAAAC -3'
Sequencing Primer
(F):5'- GTGTCTAATGAAGAAACCCAGTC -3'
(R):5'- GTTGAATTTCGTTAACCGCTTCG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation