Incidental Mutation 'IGL01343:Adgrf1'
ID |
74918 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Adgrf1
|
Ensembl Gene |
ENSMUSG00000041293 |
Gene Name |
adhesion G protein-coupled receptor F1 |
Synonyms |
5031409J19Rik, Gpr110 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01343
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
43581220-43635628 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 43624086 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 835
(F835L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049380
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047399]
|
AlphaFold |
Q8VEC3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000047399
AA Change: F835L
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000049380 Gene: ENSMUSG00000041293 AA Change: F835L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
low complexity region
|
59 |
83 |
N/A |
INTRINSIC |
Pfam:SEA
|
150 |
238 |
3.7e-10 |
PFAM |
low complexity region
|
341 |
363 |
N/A |
INTRINSIC |
GPS
|
528 |
576 |
5.56e-15 |
SMART |
Pfam:7tm_2
|
580 |
832 |
2.1e-38 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a reporter allele exhibit normal viability and fertility. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd2 |
A |
T |
15: 91,033,416 (GRCm39) |
|
probably benign |
Het |
Akp3 |
G |
T |
1: 87,054,858 (GRCm39) |
|
probably benign |
Het |
BC106179 |
G |
T |
16: 23,043,037 (GRCm39) |
|
probably benign |
Het |
Bysl |
C |
A |
17: 47,912,814 (GRCm39) |
M325I |
probably benign |
Het |
Cip2a |
A |
G |
16: 48,833,551 (GRCm39) |
I551V |
probably damaging |
Het |
Crnn |
A |
G |
3: 93,055,633 (GRCm39) |
R140G |
probably benign |
Het |
Cts8 |
T |
C |
13: 61,397,010 (GRCm39) |
|
probably benign |
Het |
Cxcr4 |
T |
C |
1: 128,517,292 (GRCm39) |
Y121C |
probably damaging |
Het |
Ddr2 |
T |
C |
1: 169,812,150 (GRCm39) |
T691A |
probably benign |
Het |
Dhx30 |
A |
T |
9: 109,915,313 (GRCm39) |
F782I |
probably benign |
Het |
Efcab5 |
C |
T |
11: 77,020,756 (GRCm39) |
G655D |
probably damaging |
Het |
Eif2ak4 |
G |
A |
2: 118,252,570 (GRCm39) |
V381I |
probably benign |
Het |
Enpp3 |
A |
T |
10: 24,681,820 (GRCm39) |
Y295* |
probably null |
Het |
Fbxo28 |
T |
C |
1: 182,144,577 (GRCm39) |
E329G |
probably damaging |
Het |
Fcgbpl1 |
A |
G |
7: 27,850,127 (GRCm39) |
Q1191R |
probably benign |
Het |
Fmnl2 |
T |
A |
2: 53,013,557 (GRCm39) |
V972D |
probably damaging |
Het |
Fmr1 |
A |
G |
X: 67,731,901 (GRCm39) |
D22G |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,830,163 (GRCm39) |
T6886A |
possibly damaging |
Het |
Gadl1 |
A |
G |
9: 115,903,180 (GRCm39) |
*503W |
probably null |
Het |
Gpc6 |
A |
T |
14: 117,424,224 (GRCm39) |
K104I |
possibly damaging |
Het |
Hecw2 |
T |
A |
1: 53,866,135 (GRCm39) |
T1509S |
probably damaging |
Het |
Lonp1 |
A |
G |
17: 56,922,586 (GRCm39) |
L680P |
possibly damaging |
Het |
Lrrc66 |
A |
T |
5: 73,765,806 (GRCm39) |
N412K |
probably damaging |
Het |
Marco |
C |
T |
1: 120,422,469 (GRCm39) |
|
probably null |
Het |
Mdga2 |
T |
C |
12: 66,769,883 (GRCm39) |
T206A |
probably damaging |
Het |
Mogat2 |
C |
A |
7: 98,881,775 (GRCm39) |
A54S |
possibly damaging |
Het |
Myh15 |
T |
A |
16: 48,976,040 (GRCm39) |
D1369E |
probably benign |
Het |
Nckap1 |
A |
T |
2: 80,350,186 (GRCm39) |
S840T |
possibly damaging |
Het |
Ncor1 |
C |
T |
11: 62,216,312 (GRCm39) |
|
probably null |
Het |
Nfrkb |
C |
A |
9: 31,300,250 (GRCm39) |
L14I |
probably damaging |
Het |
Notch1 |
C |
A |
2: 26,362,917 (GRCm39) |
A950S |
probably benign |
Het |
Notch3 |
T |
C |
17: 32,362,410 (GRCm39) |
E1405G |
probably benign |
Het |
Nsd2 |
C |
A |
5: 34,000,922 (GRCm39) |
D146E |
probably damaging |
Het |
Oc90 |
T |
C |
15: 65,761,440 (GRCm39) |
T193A |
probably benign |
Het |
Or7c70 |
A |
T |
10: 78,683,431 (GRCm39) |
V106E |
probably damaging |
Het |
Or8g50 |
C |
A |
9: 39,649,011 (GRCm39) |
A300D |
probably damaging |
Het |
Or8k40 |
T |
A |
2: 86,584,843 (GRCm39) |
K80* |
probably null |
Het |
Orc2 |
A |
T |
1: 58,532,014 (GRCm39) |
|
probably null |
Het |
Pacsin2 |
T |
C |
15: 83,270,887 (GRCm39) |
H254R |
probably damaging |
Het |
Pif1 |
T |
A |
9: 65,496,844 (GRCm39) |
M319K |
probably damaging |
Het |
Prag1 |
G |
A |
8: 36,570,200 (GRCm39) |
R261H |
possibly damaging |
Het |
Ptprq |
G |
A |
10: 107,474,700 (GRCm39) |
T1335I |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,490,399 (GRCm39) |
Y3812H |
probably damaging |
Het |
Sgo2b |
G |
A |
8: 64,380,349 (GRCm39) |
Q828* |
probably null |
Het |
Skint6 |
A |
G |
4: 113,140,823 (GRCm39) |
V6A |
probably benign |
Het |
Slc16a13 |
A |
G |
11: 70,111,340 (GRCm39) |
I55T |
probably damaging |
Het |
Slc22a3 |
A |
T |
17: 12,644,516 (GRCm39) |
W490R |
probably damaging |
Het |
Speer4b |
G |
T |
5: 27,702,881 (GRCm39) |
H208N |
probably benign |
Het |
Tas2r124 |
T |
C |
6: 132,732,378 (GRCm39) |
L229S |
probably damaging |
Het |
Tlr4 |
T |
C |
4: 66,752,124 (GRCm39) |
|
probably benign |
Het |
Tmed1 |
G |
T |
9: 21,421,369 (GRCm39) |
T35K |
probably damaging |
Het |
Tubgcp5 |
C |
A |
7: 55,445,779 (GRCm39) |
|
probably benign |
Het |
Ugt2b34 |
A |
G |
5: 87,052,247 (GRCm39) |
S250P |
possibly damaging |
Het |
Zfp516 |
A |
G |
18: 83,011,221 (GRCm39) |
T1085A |
probably damaging |
Het |
Znfx1 |
T |
C |
2: 166,879,283 (GRCm39) |
I1698V |
probably benign |
Het |
Zswim8 |
G |
T |
14: 20,763,409 (GRCm39) |
W385C |
probably damaging |
Het |
|
Other mutations in Adgrf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01359:Adgrf1
|
APN |
17 |
43,621,577 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02131:Adgrf1
|
APN |
17 |
43,614,638 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02692:Adgrf1
|
APN |
17 |
43,614,669 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02891:Adgrf1
|
APN |
17 |
43,622,052 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03027:Adgrf1
|
APN |
17 |
43,607,605 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03296:Adgrf1
|
APN |
17 |
43,632,044 (GRCm39) |
splice site |
probably benign |
|
R0211:Adgrf1
|
UTSW |
17 |
43,607,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R0211:Adgrf1
|
UTSW |
17 |
43,607,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R0389:Adgrf1
|
UTSW |
17 |
43,614,679 (GRCm39) |
critical splice donor site |
probably null |
|
R0488:Adgrf1
|
UTSW |
17 |
43,621,302 (GRCm39) |
missense |
probably damaging |
0.99 |
R1591:Adgrf1
|
UTSW |
17 |
43,621,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R1817:Adgrf1
|
UTSW |
17 |
43,620,924 (GRCm39) |
missense |
probably benign |
0.01 |
R1819:Adgrf1
|
UTSW |
17 |
43,620,924 (GRCm39) |
missense |
probably benign |
0.01 |
R2009:Adgrf1
|
UTSW |
17 |
43,632,112 (GRCm39) |
nonsense |
probably null |
|
R2032:Adgrf1
|
UTSW |
17 |
43,622,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R2140:Adgrf1
|
UTSW |
17 |
43,611,693 (GRCm39) |
missense |
probably damaging |
0.99 |
R3953:Adgrf1
|
UTSW |
17 |
43,621,098 (GRCm39) |
missense |
probably benign |
0.08 |
R4679:Adgrf1
|
UTSW |
17 |
43,621,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R4775:Adgrf1
|
UTSW |
17 |
43,622,054 (GRCm39) |
missense |
probably damaging |
1.00 |
R4858:Adgrf1
|
UTSW |
17 |
43,614,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R4894:Adgrf1
|
UTSW |
17 |
43,609,975 (GRCm39) |
nonsense |
probably null |
|
R4895:Adgrf1
|
UTSW |
17 |
43,621,511 (GRCm39) |
missense |
probably benign |
0.33 |
R4935:Adgrf1
|
UTSW |
17 |
43,606,130 (GRCm39) |
missense |
probably benign |
0.00 |
R5027:Adgrf1
|
UTSW |
17 |
43,614,638 (GRCm39) |
missense |
probably damaging |
0.99 |
R5373:Adgrf1
|
UTSW |
17 |
43,601,896 (GRCm39) |
start gained |
probably benign |
|
R5374:Adgrf1
|
UTSW |
17 |
43,601,896 (GRCm39) |
start gained |
probably benign |
|
R5455:Adgrf1
|
UTSW |
17 |
43,632,034 (GRCm39) |
splice site |
probably null |
|
R5579:Adgrf1
|
UTSW |
17 |
43,621,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R5985:Adgrf1
|
UTSW |
17 |
43,604,146 (GRCm39) |
missense |
probably benign |
0.00 |
R6038:Adgrf1
|
UTSW |
17 |
43,606,100 (GRCm39) |
missense |
probably benign |
0.00 |
R6038:Adgrf1
|
UTSW |
17 |
43,606,100 (GRCm39) |
missense |
probably benign |
0.00 |
R6160:Adgrf1
|
UTSW |
17 |
43,621,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R6227:Adgrf1
|
UTSW |
17 |
43,621,164 (GRCm39) |
missense |
probably benign |
0.05 |
R6500:Adgrf1
|
UTSW |
17 |
43,621,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R7066:Adgrf1
|
UTSW |
17 |
43,621,151 (GRCm39) |
missense |
probably benign |
0.05 |
R7099:Adgrf1
|
UTSW |
17 |
43,621,493 (GRCm39) |
missense |
probably benign |
0.00 |
R7561:Adgrf1
|
UTSW |
17 |
43,622,000 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8359:Adgrf1
|
UTSW |
17 |
43,621,286 (GRCm39) |
missense |
probably damaging |
0.99 |
R8480:Adgrf1
|
UTSW |
17 |
43,606,055 (GRCm39) |
missense |
probably benign |
0.08 |
R8543:Adgrf1
|
UTSW |
17 |
43,624,097 (GRCm39) |
missense |
probably null |
0.99 |
R9023:Adgrf1
|
UTSW |
17 |
43,614,651 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9074:Adgrf1
|
UTSW |
17 |
43,601,879 (GRCm39) |
start gained |
probably benign |
|
R9207:Adgrf1
|
UTSW |
17 |
43,621,164 (GRCm39) |
missense |
probably benign |
0.05 |
R9232:Adgrf1
|
UTSW |
17 |
43,621,295 (GRCm39) |
missense |
probably benign |
0.07 |
R9425:Adgrf1
|
UTSW |
17 |
43,621,274 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9526:Adgrf1
|
UTSW |
17 |
43,616,237 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9697:Adgrf1
|
UTSW |
17 |
43,625,362 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9711:Adgrf1
|
UTSW |
17 |
43,621,580 (GRCm39) |
missense |
possibly damaging |
0.81 |
Z1177:Adgrf1
|
UTSW |
17 |
43,621,038 (GRCm39) |
missense |
probably benign |
0.14 |
|
Posted On |
2013-10-07 |