Incidental Mutation 'IGL01593:Ackr4'
ID |
91659 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ackr4
|
Ensembl Gene |
ENSMUSG00000079355 |
Gene Name |
atypical chemokine receptor 4 |
Synonyms |
A630091E18Rik, CCX-CKR, PPR1, CCBP2, CCR11, VSHK1, Ccrl1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01593
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
103974881-104003842 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
C to T
at 103963130 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141064
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047799]
[ENSMUST00000120854]
[ENSMUST00000189998]
|
AlphaFold |
Q924I3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047799
|
SMART Domains |
Protein: ENSMUSP00000043424 Gene: ENSMUSG00000090150
Domain | Start | End | E-Value | Type |
Pfam:APH
|
43 |
307 |
3.5e-45 |
PFAM |
Pfam:Acyl-CoA_dh_N
|
376 |
498 |
1.5e-13 |
PFAM |
Pfam:Acyl-CoA_dh_M
|
502 |
605 |
1.7e-21 |
PFAM |
Pfam:Acyl-CoA_dh_1
|
617 |
768 |
2.7e-36 |
PFAM |
Pfam:Acyl-CoA_dh_2
|
632 |
743 |
2e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000050139
|
SMART Domains |
Protein: ENSMUSP00000062941 Gene: ENSMUSG00000041748
Domain | Start | End | E-Value | Type |
transmembrane domain
|
28 |
50 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120854
|
SMART Domains |
Protein: ENSMUSP00000112994 Gene: ENSMUSG00000090150
Domain | Start | End | E-Value | Type |
Pfam:APH
|
1 |
188 |
1.1e-28 |
PFAM |
Pfam:EcKinase
|
49 |
143 |
4.8e-9 |
PFAM |
Pfam:Acyl-CoA_dh_N
|
257 |
380 |
8.7e-15 |
PFAM |
Pfam:Acyl-CoA_dh_M
|
385 |
439 |
2.4e-19 |
PFAM |
Pfam:Acyl-CoA_dh_1
|
499 |
650 |
1.3e-37 |
PFAM |
Pfam:Acyl-CoA_dh_2
|
514 |
632 |
2.7e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189998
|
Coding Region Coverage |
|
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 a member of the G protein-coupled receptor family, and is a receptor for C-C type chemokines. This receptor has been shown to bind dendritic cell- and T cell-activated chemokines including CCL19/ELC, CCL21/SLC, and CCL25/TECK. A pseudogene of this gene is found on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2013] PHENOTYPE: Mice homozygous for a targeted null mutation do not exhibit any significant abnormalities compared to controls. Mice homozygous for a different knock-out allele exhibit increased susceptibility to experimental autoimmune encephalomyelitis with increased Th17 response. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
A |
T |
8: 87,284,279 (GRCm39) |
I310N |
probably damaging |
Het |
Abtb3 |
T |
A |
10: 85,490,339 (GRCm39) |
|
probably benign |
Het |
Ankib1 |
A |
T |
5: 3,782,590 (GRCm39) |
D346E |
probably benign |
Het |
Asap2 |
G |
T |
12: 21,263,203 (GRCm39) |
A273S |
probably null |
Het |
Atp6v0d2 |
C |
A |
4: 19,881,436 (GRCm39) |
R219L |
probably damaging |
Het |
Atp6v1e2 |
A |
T |
17: 87,251,727 (GRCm39) |
F224I |
probably damaging |
Het |
Bnc2 |
T |
C |
4: 84,194,478 (GRCm39) |
|
probably null |
Het |
Cd33 |
A |
G |
7: 43,179,705 (GRCm39) |
L241P |
possibly damaging |
Het |
Clec4g |
A |
T |
8: 3,769,474 (GRCm39) |
|
probably null |
Het |
Dym |
C |
T |
18: 75,247,852 (GRCm39) |
|
probably benign |
Het |
Enpp5 |
A |
G |
17: 44,391,612 (GRCm39) |
T14A |
probably benign |
Het |
Ggt1 |
T |
C |
10: 75,421,121 (GRCm39) |
|
probably null |
Het |
Gm17541 |
T |
A |
12: 4,739,868 (GRCm39) |
|
probably benign |
Het |
Gpr39 |
A |
T |
1: 125,605,188 (GRCm39) |
I39F |
probably benign |
Het |
Kcnb1 |
G |
T |
2: 166,948,127 (GRCm39) |
F240L |
probably damaging |
Het |
Kcnt1 |
T |
A |
2: 25,788,766 (GRCm39) |
V400E |
probably damaging |
Het |
Klhdc7a |
A |
G |
4: 139,694,125 (GRCm39) |
I274T |
probably damaging |
Het |
Lrwd1 |
A |
T |
5: 136,163,483 (GRCm39) |
L71Q |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,528,723 (GRCm39) |
|
probably null |
Het |
Nckap1 |
A |
T |
2: 80,350,914 (GRCm39) |
M725K |
probably benign |
Het |
Odad2 |
T |
C |
18: 7,127,345 (GRCm39) |
K956R |
probably benign |
Het |
Or2b7 |
T |
A |
13: 21,739,389 (GRCm39) |
I268F |
probably damaging |
Het |
Pole2 |
C |
T |
12: 69,269,873 (GRCm39) |
|
probably null |
Het |
Prss32 |
A |
G |
17: 24,074,982 (GRCm39) |
T111A |
probably benign |
Het |
Rgs9 |
A |
G |
11: 109,139,875 (GRCm39) |
|
probably benign |
Het |
Slc2a4 |
A |
G |
11: 69,835,654 (GRCm39) |
C361R |
probably damaging |
Het |
Ston1 |
G |
A |
17: 88,944,438 (GRCm39) |
G615R |
probably null |
Het |
Tas2r139 |
T |
G |
6: 42,117,891 (GRCm39) |
W8G |
probably benign |
Het |
Tmem101 |
A |
T |
11: 102,046,704 (GRCm39) |
L55Q |
probably damaging |
Het |
Tnni3k |
T |
C |
3: 154,646,666 (GRCm39) |
|
probably null |
Het |
Uba2 |
A |
G |
7: 33,845,689 (GRCm39) |
V478A |
probably damaging |
Het |
Vps13a |
T |
C |
19: 16,739,545 (GRCm39) |
D52G |
probably damaging |
Het |
|
Other mutations in Ackr4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01859:Ackr4
|
APN |
9 |
103,963,336 (GRCm39) |
intron |
probably benign |
|
IGL02088:Ackr4
|
APN |
9 |
103,976,080 (GRCm39) |
missense |
probably damaging |
0.99 |
R0108:Ackr4
|
UTSW |
9 |
103,976,387 (GRCm39) |
missense |
probably benign |
0.07 |
R0194:Ackr4
|
UTSW |
9 |
103,976,679 (GRCm39) |
missense |
probably benign |
0.31 |
R0208:Ackr4
|
UTSW |
9 |
103,976,860 (GRCm39) |
missense |
probably benign |
|
R0519:Ackr4
|
UTSW |
9 |
103,976,650 (GRCm39) |
missense |
probably benign |
0.02 |
R0594:Ackr4
|
UTSW |
9 |
103,976,203 (GRCm39) |
missense |
possibly damaging |
0.55 |
R0940:Ackr4
|
UTSW |
9 |
103,976,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R4510:Ackr4
|
UTSW |
9 |
103,975,930 (GRCm39) |
missense |
probably benign |
0.02 |
R4511:Ackr4
|
UTSW |
9 |
103,975,930 (GRCm39) |
missense |
probably benign |
0.02 |
R5298:Ackr4
|
UTSW |
9 |
103,976,086 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5961:Ackr4
|
UTSW |
9 |
103,976,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R6402:Ackr4
|
UTSW |
9 |
103,976,144 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6762:Ackr4
|
UTSW |
9 |
103,976,867 (GRCm39) |
missense |
probably benign |
0.06 |
R7080:Ackr4
|
UTSW |
9 |
103,976,761 (GRCm39) |
missense |
probably damaging |
1.00 |
R8218:Ackr4
|
UTSW |
9 |
103,976,410 (GRCm39) |
missense |
probably benign |
0.06 |
R8329:Ackr4
|
UTSW |
9 |
103,976,660 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2013-12-09 |