Incidental Mutation 'R7950:Arl6'
| ID |
656408 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arl6
|
| Ensembl Gene |
ENSMUSG00000022722 |
| Gene Name |
ADP-ribosylation factor-like 6 |
| Synonyms |
BBS3, 1110018H24Rik, 2210411E14Rik |
| MMRRC Submission |
045995-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.335)
|
| Stock # |
R7950 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
59433312-59459754 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 59439094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023405]
[ENSMUST00000099646]
[ENSMUST00000118438]
[ENSMUST00000149797]
|
| AlphaFold |
O88848 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023405
|
| SMART Domains |
Protein: ENSMUSP00000023405
Gene: ENSMUSG00000022722
| Domain | Start | End | E-Value | Type |
|---|
|
ARF
|
1 |
185 |
1.62e-46 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000099646
|
| SMART Domains |
Protein: ENSMUSP00000097238
Gene: ENSMUSG00000022722
| Domain | Start | End | E-Value | Type |
|---|
|
ARF
|
1 |
185 |
7.35e-45 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118438
|
| SMART Domains |
Protein: ENSMUSP00000113127
Gene: ENSMUSG00000022722
| Domain | Start | End | E-Value | Type |
|---|
|
ARF
|
1 |
185 |
7.35e-45 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149797
|
| SMART Domains |
Protein: ENSMUSP00000123287
Gene: ENSMUSG00000022722
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
4 |
127 |
6.4e-38 |
PFAM |
|
Pfam:SRPRB
|
15 |
124 |
5.5e-10 |
PFAM |
|
Pfam:Ras
|
19 |
121 |
2.1e-9 |
PFAM |
|
Pfam:Roc
|
19 |
124 |
1e-12 |
PFAM |
|
Pfam:Gtr1_RagA
|
19 |
125 |
1.2e-7 |
PFAM |
|
Pfam:MMR_HSR1
|
19 |
129 |
2.1e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (47/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ARF-like (ADP ribosylation factor-like) sub-family of the ARF family of GTP-binding proteins which are involved in regulation of intracellular traffic. Mutations in this gene are associated with Bardet-Biedl syndrome (BBS). A vision-specific transcript, encoding long isoform BBS3L, has been described (PMID: 20333246). [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a targeted allele exhibit a disorganized photoreceptor inner segment and craniofacial abnormalitries. Male mice are sterile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf5 |
G |
A |
17: 43,762,048 (GRCm39) |
V1248M |
probably damaging |
Het |
| Alb |
T |
C |
5: 90,620,323 (GRCm39) |
S478P |
probably damaging |
Het |
| Arhgap17 |
A |
G |
7: 122,886,039 (GRCm39) |
S698P |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,250,859 (GRCm39) |
T537A |
possibly damaging |
Het |
| Atp13a4 |
A |
T |
16: 29,268,735 (GRCm39) |
W540R |
|
Het |
| Birc6 |
A |
T |
17: 74,900,095 (GRCm39) |
D1091V |
probably damaging |
Het |
| Bnc1 |
A |
G |
7: 81,623,250 (GRCm39) |
V659A |
probably benign |
Het |
| C130074G19Rik |
T |
C |
1: 184,606,571 (GRCm39) |
|
probably null |
Het |
| C1ql4 |
T |
A |
15: 98,982,693 (GRCm39) |
H220L |
probably benign |
Het |
| Cacna1s |
A |
G |
1: 136,028,363 (GRCm39) |
N1147S |
probably benign |
Het |
| Cc2d2a |
T |
C |
5: 43,852,638 (GRCm39) |
|
probably null |
Het |
| Ccl1 |
T |
A |
11: 82,070,519 (GRCm39) |
I18L |
probably benign |
Het |
| Cfap410 |
C |
T |
10: 77,815,601 (GRCm39) |
T31I |
probably damaging |
Het |
| Ecel1 |
A |
T |
1: 87,075,991 (GRCm39) |
Y729N |
probably damaging |
Het |
| Epha4 |
T |
A |
1: 77,483,833 (GRCm39) |
I59F |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,390,074 (GRCm39) |
K221E |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,456,381 (GRCm39) |
E2193G |
possibly damaging |
Het |
| Galnt10 |
C |
G |
11: 57,674,549 (GRCm39) |
P513A |
probably damaging |
Het |
| Gm5624 |
A |
G |
14: 44,798,190 (GRCm39) |
Y139H |
|
Het |
| Golgb1 |
A |
C |
16: 36,735,786 (GRCm39) |
I1719L |
probably benign |
Het |
| Hsf1 |
T |
C |
15: 76,382,393 (GRCm39) |
S255P |
probably benign |
Het |
| Ighv2-2 |
T |
C |
12: 113,551,914 (GRCm39) |
D108G |
probably damaging |
Het |
| Iho1 |
T |
C |
9: 108,282,870 (GRCm39) |
T273A |
probably benign |
Het |
| Kbtbd3 |
C |
T |
9: 4,316,878 (GRCm39) |
Q10* |
probably null |
Het |
| Kcnh2 |
C |
T |
5: 24,538,034 (GRCm39) |
V110M |
probably benign |
Het |
| Magi3 |
A |
C |
3: 103,924,005 (GRCm39) |
L1112W |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 16,132,879 (GRCm39) |
D1933E |
unknown |
Het |
| Mki67 |
G |
A |
7: 135,301,453 (GRCm39) |
R1194* |
probably null |
Het |
| Nap1l1 |
T |
C |
10: 111,328,769 (GRCm39) |
Y233H |
probably damaging |
Het |
| Napsa |
A |
G |
7: 44,234,758 (GRCm39) |
I298V |
probably benign |
Het |
| Nkx6-1 |
A |
T |
5: 101,811,465 (GRCm39) |
S212R |
probably damaging |
Het |
| Nlrc4 |
A |
T |
17: 74,752,610 (GRCm39) |
I591N |
probably damaging |
Het |
| Or5b114-ps1 |
T |
C |
19: 13,352,431 (GRCm39) |
I35T |
possibly damaging |
Het |
| Orc2 |
T |
C |
1: 58,506,827 (GRCm39) |
D503G |
possibly damaging |
Het |
| Osbp |
T |
A |
19: 11,955,612 (GRCm39) |
S343T |
probably benign |
Het |
| Pcdha6 |
T |
G |
18: 37,102,479 (GRCm39) |
D557E |
probably damaging |
Het |
| Pdcd11 |
AGAGGAGGAGGAGGAGGAGGAGGAG |
AGAGGAGGAGGAGGAGGAGGAG |
19: 47,101,876 (GRCm39) |
|
probably benign |
Het |
| Ppdpf |
A |
G |
2: 180,829,650 (GRCm39) |
Y35C |
probably benign |
Het |
| Scrn2 |
T |
A |
11: 96,921,755 (GRCm39) |
L75Q |
probably damaging |
Het |
| Scube3 |
G |
A |
17: 28,390,200 (GRCm39) |
V955I |
probably benign |
Het |
| Slc1a1 |
T |
C |
19: 28,889,161 (GRCm39) |
V478A |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,206,137 (GRCm39) |
|
probably null |
Het |
| Srrm2 |
T |
C |
17: 24,027,084 (GRCm39) |
L96P |
unknown |
Het |
| Strn |
A |
T |
17: 78,977,852 (GRCm39) |
L175Q |
|
Het |
|
| Other mutations in Arl6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02390:Arl6
|
APN |
16 |
59,441,580 (GRCm39) |
splice site |
probably null |
|
|
IGL02976:Arl6
|
APN |
16 |
59,444,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
shrunk
|
UTSW |
16 |
59,444,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Slunk
|
UTSW |
16 |
59,443,455 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02988:Arl6
|
UTSW |
16 |
59,434,209 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0147:Arl6
|
UTSW |
16 |
59,439,153 (GRCm39) |
unclassified |
probably benign |
|
|
R0390:Arl6
|
UTSW |
16 |
59,442,784 (GRCm39) |
intron |
probably benign |
|
|
R2011:Arl6
|
UTSW |
16 |
59,444,676 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2138:Arl6
|
UTSW |
16 |
59,442,830 (GRCm39) |
intron |
probably benign |
|
|
R2997:Arl6
|
UTSW |
16 |
59,444,239 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4445:Arl6
|
UTSW |
16 |
59,444,676 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4677:Arl6
|
UTSW |
16 |
59,439,228 (GRCm39) |
splice site |
probably null |
|
|
R6004:Arl6
|
UTSW |
16 |
59,444,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6251:Arl6
|
UTSW |
16 |
59,439,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7171:Arl6
|
UTSW |
16 |
59,443,455 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7760:Arl6
|
UTSW |
16 |
59,439,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7768:Arl6
|
UTSW |
16 |
59,452,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8342:Arl6
|
UTSW |
16 |
59,442,802 (GRCm39) |
missense |
unknown |
|
|
R9664:Arl6
|
UTSW |
16 |
59,434,199 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGTCCCAAACTTCAGATGTG -3'
(R):5'- TCGTAGAGTTGTATGTATGACACC -3'
Sequencing Primer
(F):5'- TGTAAACACAGAAATCTGCTA -3'
(R):5'- CACCATAAAGTGAATTTTGTGTGTGG -3'
|
| Posted On |
2020-11-06 |
Incidental Mutation