Incidental Mutation 'R8080:Phip'
| ID |
629292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phip
|
| Ensembl Gene |
ENSMUSG00000032253 |
| Gene Name |
pleckstrin homology domain interacting protein |
| Synonyms |
Ndrp, 4632404O06Rik, Wdr11, 2810004D21Rik |
| MMRRC Submission |
067513-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8080 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
82748212-82857569 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82769662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1147
(L1147P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034787]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034787
AA Change: L1147P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034787
Gene: ENSMUSG00000032253
AA Change: L1147P
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
172 |
211 |
1.5e-8 |
SMART |
|
WD40
|
214 |
253 |
4.1e-9 |
SMART |
|
WD40
|
256 |
299 |
3.5e-7 |
SMART |
|
WD40
|
310 |
349 |
1.4e-1 |
SMART |
|
WD40
|
354 |
393 |
6.6e-10 |
SMART |
|
WD40
|
408 |
452 |
1.4e-2 |
SMART |
|
WD40
|
455 |
495 |
3.4e-10 |
SMART |
|
WD40
|
498 |
542 |
6.6e-2 |
SMART |
|
low complexity region
|
802 |
813 |
N/A |
INTRINSIC |
|
low complexity region
|
841 |
854 |
N/A |
INTRINSIC |
|
low complexity region
|
865 |
877 |
N/A |
INTRINSIC |
|
coiled coil region
|
881 |
907 |
N/A |
INTRINSIC |
|
low complexity region
|
928 |
941 |
N/A |
INTRINSIC |
|
BROMO
|
1158 |
1261 |
3.5e-11 |
SMART |
|
BROMO
|
1318 |
1423 |
4.1e-30 |
SMART |
|
low complexity region
|
1438 |
1463 |
N/A |
INTRINSIC |
|
low complexity region
|
1500 |
1513 |
N/A |
INTRINSIC |
|
low complexity region
|
1708 |
1721 |
N/A |
INTRINSIC |
|
low complexity region
|
1752 |
1758 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.5096 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 94.9%
|
| Validation Efficiency |
100% (64/64) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds to the insulin receptor substrate 1 protein and regulates glucose transporter translocation in skeletal muscle cells. The encoded protein may also regulate growth and survival of pancreatic beta cells. Elevated copy number of this gene may be associated with melanoma severity and the encoded protein may promote melanoma metastasis in human patients. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit postnatal and premature lethality associated with reduced body size, small myocardial cells and hepatocytes, hypoglycemia, increased insulin sensitivity, and reduced cell growth. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(34) : Gene trapped(34) |
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aloxe3 |
A |
G |
11: 69,023,900 (GRCm39) |
Q277R |
probably damaging |
Het |
| Anapc5 |
T |
C |
5: 122,945,401 (GRCm39) |
N226D |
probably damaging |
Het |
| Arb2a |
T |
A |
13: 78,154,565 (GRCm39) |
L316Q |
probably damaging |
Het |
| Bcl2l11 |
T |
C |
2: 127,970,586 (GRCm39) |
C12R |
probably damaging |
Het |
| Bpnt1 |
A |
G |
1: 185,084,406 (GRCm39) |
T168A |
probably damaging |
Het |
| Brca2 |
A |
T |
5: 150,463,357 (GRCm39) |
E1040D |
probably benign |
Het |
| Cdca2 |
G |
A |
14: 67,915,004 (GRCm39) |
Q752* |
probably null |
Het |
| Cntn2 |
T |
C |
1: 132,449,536 (GRCm39) |
D635G |
probably damaging |
Het |
| Cntnap5b |
A |
T |
1: 99,999,928 (GRCm39) |
I229F |
probably benign |
Het |
| Ctr9 |
G |
A |
7: 110,650,774 (GRCm39) |
E900K |
possibly damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,690,500 (GRCm39) |
Y911C |
unknown |
Het |
| Egflam |
T |
A |
15: 7,427,561 (GRCm39) |
D2V |
probably benign |
Het |
| Enpep |
A |
T |
3: 129,092,783 (GRCm39) |
N505K |
probably damaging |
Het |
| Fam13a |
A |
G |
6: 58,933,790 (GRCm39) |
S267P |
probably damaging |
Het |
| Fancc |
G |
T |
13: 63,550,837 (GRCm39) |
T12K |
|
Het |
| Fbxo3 |
A |
G |
2: 103,864,012 (GRCm39) |
Y89C |
probably damaging |
Het |
| Garem2 |
A |
G |
5: 30,313,385 (GRCm39) |
Y83C |
probably damaging |
Het |
| Gm17079 |
T |
C |
14: 51,930,480 (GRCm39) |
T122A |
|
Het |
| Gm3696 |
A |
T |
14: 18,435,071 (GRCm39) |
L71* |
probably null |
Het |
| Gm4559 |
C |
T |
7: 141,827,553 (GRCm39) |
R183K |
unknown |
Het |
| Gmip |
A |
T |
8: 70,268,736 (GRCm39) |
T454S |
possibly damaging |
Het |
| Helz2 |
T |
A |
2: 180,880,055 (GRCm39) |
T554S |
probably damaging |
Het |
| Hoxc9 |
C |
T |
15: 102,890,551 (GRCm39) |
T156M |
probably benign |
Het |
| Hrc |
A |
G |
7: 44,986,262 (GRCm39) |
E471G |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,261,863 (GRCm39) |
I2655V |
probably benign |
Het |
| Ighv1-64 |
T |
C |
12: 115,471,463 (GRCm39) |
H18R |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,649,270 (GRCm39) |
Y47C |
probably benign |
Het |
| Jmjd4 |
A |
G |
11: 59,341,179 (GRCm39) |
T37A |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,796,038 (GRCm39) |
G2915S |
possibly damaging |
Het |
| Kdm5d |
T |
C |
Y: 910,742 (GRCm39) |
F285L |
probably benign |
Het |
| Lmna |
A |
G |
3: 88,393,868 (GRCm39) |
F237L |
probably damaging |
Het |
| Med12l |
A |
G |
3: 59,172,607 (GRCm39) |
K1788E |
probably damaging |
Het |
| Mrgprb1 |
T |
C |
7: 48,096,658 (GRCm39) |
|
probably null |
Het |
| Myh1 |
T |
A |
11: 67,102,228 (GRCm39) |
Y840N |
probably benign |
Het |
| Negr1 |
C |
A |
3: 156,866,357 (GRCm39) |
A302E |
probably damaging |
Het |
| Nup188 |
T |
C |
2: 30,227,045 (GRCm39) |
V1206A |
possibly damaging |
Het |
| Nup205 |
T |
C |
6: 35,204,311 (GRCm39) |
L1399P |
probably damaging |
Het |
| Or13a20 |
T |
C |
7: 140,232,387 (GRCm39) |
M165T |
probably benign |
Het |
| Or4a81 |
T |
A |
2: 89,618,971 (GRCm39) |
I242F |
possibly damaging |
Het |
| Or5v1b |
G |
A |
17: 37,841,555 (GRCm39) |
R229H |
probably benign |
Het |
| Or6c69b |
T |
C |
10: 129,626,997 (GRCm39) |
I154V |
probably benign |
Het |
| Or8c14-ps1 |
T |
C |
9: 38,101,885 (GRCm39) |
L288S |
unknown |
Het |
| Pcdhb4 |
A |
G |
18: 37,442,349 (GRCm39) |
D553G |
probably benign |
Het |
| Phlpp1 |
A |
G |
1: 106,320,706 (GRCm39) |
D1567G |
probably benign |
Het |
| Pigz |
T |
C |
16: 31,760,858 (GRCm39) |
C20R |
probably damaging |
Het |
| Plpp1 |
A |
G |
13: 113,004,002 (GRCm39) |
K252R |
probably benign |
Het |
| Polr2a |
A |
T |
11: 69,625,874 (GRCm39) |
S1759T |
unknown |
Het |
| Rbm42 |
G |
T |
7: 30,345,136 (GRCm39) |
P212T |
unknown |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Slc35e1 |
G |
A |
8: 73,246,030 (GRCm39) |
P134L |
|
Het |
| Slc9a3 |
A |
C |
13: 74,314,146 (GRCm39) |
Q818P |
probably benign |
Het |
| St3gal4 |
T |
C |
9: 35,017,617 (GRCm39) |
|
probably null |
Het |
| Stard3nl |
G |
T |
13: 19,554,521 (GRCm39) |
A151E |
probably damaging |
Het |
| Syt9 |
T |
A |
7: 107,035,997 (GRCm39) |
I338N |
probably benign |
Het |
| Ticrr |
A |
T |
7: 79,334,012 (GRCm39) |
|
probably null |
Het |
| Tlr4 |
T |
A |
4: 66,757,713 (GRCm39) |
Y169N |
probably damaging |
Het |
| Tnc |
A |
C |
4: 63,894,706 (GRCm39) |
I1560S |
possibly damaging |
Het |
| Usp7 |
C |
A |
16: 8,515,771 (GRCm39) |
D644Y |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,618,577 (GRCm39) |
I1141T |
possibly damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r60 |
A |
G |
7: 41,790,521 (GRCm39) |
M503V |
probably benign |
Het |
| Zfp384 |
T |
C |
6: 125,013,521 (GRCm39) |
S530P |
unknown |
Het |
| Zfp600 |
T |
A |
4: 146,133,182 (GRCm39) |
C617S |
unknown |
Het |
| Zfp819 |
A |
G |
7: 43,267,148 (GRCm39) |
R544G |
probably damaging |
Het |
|
| Other mutations in Phip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00809:Phip
|
APN |
9 |
82,753,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01510:Phip
|
APN |
9 |
82,795,924 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01916:Phip
|
APN |
9 |
82,772,522 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02068:Phip
|
APN |
9 |
82,827,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02089:Phip
|
APN |
9 |
82,753,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02121:Phip
|
APN |
9 |
82,775,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02132:Phip
|
APN |
9 |
82,763,394 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02146:Phip
|
APN |
9 |
82,763,771 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02282:Phip
|
APN |
9 |
82,795,743 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02341:Phip
|
APN |
9 |
82,814,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02342:Phip
|
APN |
9 |
82,768,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02470:Phip
|
APN |
9 |
82,772,507 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02585:Phip
|
APN |
9 |
82,785,241 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03271:Phip
|
APN |
9 |
82,766,877 (GRCm39) |
splice site |
probably benign |
|
|
3-1:Phip
|
UTSW |
9 |
82,768,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0102:Phip
|
UTSW |
9 |
82,787,845 (GRCm39) |
splice site |
probably null |
|
|
R0102:Phip
|
UTSW |
9 |
82,787,845 (GRCm39) |
splice site |
probably null |
|
|
R0137:Phip
|
UTSW |
9 |
82,809,244 (GRCm39) |
splice site |
probably null |
|
|
R0268:Phip
|
UTSW |
9 |
82,753,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0366:Phip
|
UTSW |
9 |
82,808,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0421:Phip
|
UTSW |
9 |
82,808,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0481:Phip
|
UTSW |
9 |
82,758,769 (GRCm39) |
splice site |
probably benign |
|
|
R0883:Phip
|
UTSW |
9 |
82,758,274 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0885:Phip
|
UTSW |
9 |
82,757,448 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1300:Phip
|
UTSW |
9 |
82,758,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1434:Phip
|
UTSW |
9 |
82,841,658 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1448:Phip
|
UTSW |
9 |
82,797,476 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1588:Phip
|
UTSW |
9 |
82,782,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1619:Phip
|
UTSW |
9 |
82,753,502 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1658:Phip
|
UTSW |
9 |
82,753,551 (GRCm39) |
missense |
probably benign |
|
|
R1688:Phip
|
UTSW |
9 |
82,753,710 (GRCm39) |
missense |
probably benign |
|
|
R1773:Phip
|
UTSW |
9 |
82,758,242 (GRCm39) |
missense |
probably benign |
|
|
R1865:Phip
|
UTSW |
9 |
82,827,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1934:Phip
|
UTSW |
9 |
82,785,235 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2070:Phip
|
UTSW |
9 |
82,757,352 (GRCm39) |
missense |
probably benign |
|
|
R2096:Phip
|
UTSW |
9 |
82,797,392 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2097:Phip
|
UTSW |
9 |
82,797,392 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2099:Phip
|
UTSW |
9 |
82,797,392 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2192:Phip
|
UTSW |
9 |
82,753,868 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2402:Phip
|
UTSW |
9 |
82,757,358 (GRCm39) |
missense |
probably benign |
|
|
R2447:Phip
|
UTSW |
9 |
82,797,452 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2504:Phip
|
UTSW |
9 |
82,797,392 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2507:Phip
|
UTSW |
9 |
82,797,392 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2508:Phip
|
UTSW |
9 |
82,797,392 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3706:Phip
|
UTSW |
9 |
82,782,796 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3829:Phip
|
UTSW |
9 |
82,753,698 (GRCm39) |
missense |
probably benign |
|
|
R3846:Phip
|
UTSW |
9 |
82,758,179 (GRCm39) |
nonsense |
probably null |
|
|
R4301:Phip
|
UTSW |
9 |
82,841,766 (GRCm39) |
nonsense |
probably null |
|
|
R4366:Phip
|
UTSW |
9 |
82,782,922 (GRCm39) |
intron |
probably benign |
|
|
R4748:Phip
|
UTSW |
9 |
82,790,922 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4895:Phip
|
UTSW |
9 |
82,841,648 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5001:Phip
|
UTSW |
9 |
82,778,072 (GRCm39) |
splice site |
probably null |
|
|
R5094:Phip
|
UTSW |
9 |
82,753,897 (GRCm39) |
missense |
probably benign |
|
|
R5181:Phip
|
UTSW |
9 |
82,753,243 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5194:Phip
|
UTSW |
9 |
82,790,915 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5291:Phip
|
UTSW |
9 |
82,827,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5335:Phip
|
UTSW |
9 |
82,782,809 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5458:Phip
|
UTSW |
9 |
82,808,553 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5704:Phip
|
UTSW |
9 |
82,753,408 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5866:Phip
|
UTSW |
9 |
82,772,203 (GRCm39) |
missense |
probably benign |
|
|
R5870:Phip
|
UTSW |
9 |
82,790,730 (GRCm39) |
splice site |
probably benign |
|
|
R5890:Phip
|
UTSW |
9 |
82,789,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6232:Phip
|
UTSW |
9 |
82,785,234 (GRCm39) |
missense |
probably benign |
|
|
R6379:Phip
|
UTSW |
9 |
82,795,910 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6653:Phip
|
UTSW |
9 |
82,782,794 (GRCm39) |
nonsense |
probably null |
|
|
R7129:Phip
|
UTSW |
9 |
82,759,353 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7290:Phip
|
UTSW |
9 |
82,753,346 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7598:Phip
|
UTSW |
9 |
82,787,711 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7632:Phip
|
UTSW |
9 |
82,785,243 (GRCm39) |
missense |
probably benign |
|
|
R7752:Phip
|
UTSW |
9 |
82,772,203 (GRCm39) |
missense |
probably benign |
|
|
R7827:Phip
|
UTSW |
9 |
82,790,886 (GRCm39) |
missense |
probably benign |
|
|
R7901:Phip
|
UTSW |
9 |
82,772,203 (GRCm39) |
missense |
probably benign |
|
|
R7960:Phip
|
UTSW |
9 |
82,775,401 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8006:Phip
|
UTSW |
9 |
82,772,179 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8066:Phip
|
UTSW |
9 |
82,757,351 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8135:Phip
|
UTSW |
9 |
82,812,427 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8347:Phip
|
UTSW |
9 |
82,790,816 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8459:Phip
|
UTSW |
9 |
82,758,106 (GRCm39) |
missense |
probably benign |
|
|
R8705:Phip
|
UTSW |
9 |
82,775,612 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8706:Phip
|
UTSW |
9 |
82,787,765 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8743:Phip
|
UTSW |
9 |
82,809,140 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8801:Phip
|
UTSW |
9 |
82,758,305 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8930:Phip
|
UTSW |
9 |
82,789,041 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8932:Phip
|
UTSW |
9 |
82,789,041 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8969:Phip
|
UTSW |
9 |
82,809,017 (GRCm39) |
intron |
probably benign |
|
|
R9064:Phip
|
UTSW |
9 |
82,753,540 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9332:Phip
|
UTSW |
9 |
82,757,412 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9335:Phip
|
UTSW |
9 |
82,814,979 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9520:Phip
|
UTSW |
9 |
82,753,437 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTGTCACGTGATGAGAAAAC -3'
(R):5'- CAGGTATAACTGGAGTGTAGTACAC -3'
Sequencing Primer
(F):5'- TCAAGTCTGTTGAGTGTAAGAAGC -3'
(R):5'- ATGCTTTTTGAGATGCGTTTTATTTG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation