Incidental Mutation 'R6933:Anks6'
| ID |
540152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anks6
|
| Ensembl Gene |
ENSMUSG00000066191 |
| Gene Name |
ankyrin repeat and sterile alpha motif domain containing 6 |
| Synonyms |
SamCystin, 2210417J20Rik, Samd6, b2b1801.1Clo, LOC269533 |
| MMRRC Submission |
045048-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6933 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
47015669-47057427 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47049164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 247
(V247A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084616]
[ENSMUST00000107747]
[ENSMUST00000229609]
|
| AlphaFold |
Q6GQX6 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000084616
AA Change: V247A
|
| SMART Domains |
Protein: ENSMUSP00000081665
Gene: ENSMUSG00000066191
AA Change: V247A
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
8 |
37 |
2.39e2 |
SMART |
|
ANK
|
68 |
97 |
5.62e-4 |
SMART |
|
ANK
|
101 |
130 |
2.05e-6 |
SMART |
|
ANK
|
134 |
163 |
1.9e-1 |
SMART |
|
ANK
|
181 |
210 |
8.99e-3 |
SMART |
|
ANK
|
215 |
244 |
7.83e-3 |
SMART |
|
ANK
|
282 |
312 |
5.87e2 |
SMART |
|
ANK
|
316 |
345 |
1.22e-4 |
SMART |
|
ANK
|
350 |
379 |
3.57e-6 |
SMART |
|
ANK
|
383 |
414 |
1.23e3 |
SMART |
|
low complexity region
|
539 |
575 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
673 |
N/A |
INTRINSIC |
|
SAM
|
700 |
766 |
2.73e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107747
AA Change: V247A
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103376
Gene: ENSMUSG00000066191
AA Change: V247A
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
8 |
37 |
2.39e2 |
SMART |
|
ANK
|
68 |
97 |
5.62e-4 |
SMART |
|
ANK
|
101 |
130 |
2.05e-6 |
SMART |
|
ANK
|
134 |
163 |
1.9e-1 |
SMART |
|
ANK
|
181 |
210 |
8.99e-3 |
SMART |
|
ANK
|
215 |
244 |
7.83e-3 |
SMART |
|
ANK
|
282 |
312 |
5.87e2 |
SMART |
|
ANK
|
316 |
345 |
1.22e-4 |
SMART |
|
ANK
|
350 |
379 |
3.57e-6 |
SMART |
|
ANK
|
383 |
414 |
1.23e3 |
SMART |
|
low complexity region
|
607 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
687 |
741 |
N/A |
INTRINSIC |
|
low complexity region
|
748 |
768 |
N/A |
INTRINSIC |
|
Blast:SAM
|
769 |
796 |
1e-9 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229609
AA Change: V247A
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.7%
|
| Validation Efficiency |
93% (41/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in renal and cardiovascular development. Mutations in this gene have been shown to cause a form of nephronophthisis (NPHP16), a chronic tubulo-interstitial nephritis. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit complex congenital heart defects including TGA, DORV and septal defects associated with heterotaxy. [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 |
|---|
| Ank3 |
G |
T |
10: 69,740,042 (GRCm39) |
K814N |
probably damaging |
Het |
| Anks1b |
A |
G |
10: 89,905,352 (GRCm39) |
H231R |
probably damaging |
Het |
| Antxrl |
A |
G |
14: 33,797,728 (GRCm39) |
N568D |
possibly damaging |
Het |
| Ccnl1 |
T |
C |
3: 65,855,373 (GRCm39) |
T366A |
probably benign |
Het |
| Ccr2 |
T |
G |
9: 123,906,161 (GRCm39) |
L147R |
probably damaging |
Het |
| Cdc40 |
A |
G |
10: 40,720,992 (GRCm39) |
V318A |
probably damaging |
Het |
| Cfap61 |
T |
A |
2: 145,792,970 (GRCm39) |
|
probably null |
Het |
| Cfap97d2 |
CA |
CAA |
8: 13,784,865 (GRCm39) |
|
probably null |
Het |
| Clk3 |
A |
T |
9: 57,669,132 (GRCm39) |
Y31N |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,231,644 (GRCm39) |
Y1148C |
probably benign |
Het |
| Cntnap5b |
T |
C |
1: 100,311,175 (GRCm39) |
V927A |
probably benign |
Het |
| Dync1i1 |
A |
C |
6: 5,913,333 (GRCm39) |
T217P |
probably damaging |
Het |
| Elovl4 |
A |
G |
9: 83,667,153 (GRCm39) |
V68A |
probably damaging |
Het |
| Ep400 |
C |
A |
5: 110,813,728 (GRCm39) |
K2890N |
probably damaging |
Het |
| Fam114a2 |
T |
C |
11: 57,374,897 (GRCm39) |
I481V |
probably benign |
Het |
| Fam83e |
A |
G |
7: 45,371,818 (GRCm39) |
T72A |
probably benign |
Het |
| Fnip2 |
A |
T |
3: 79,425,418 (GRCm39) |
M59K |
probably benign |
Het |
| Lrpprc |
T |
C |
17: 85,030,131 (GRCm39) |
K1089R |
probably benign |
Het |
| Mndal |
T |
A |
1: 173,703,249 (GRCm39) |
E52V |
probably damaging |
Het |
| Myom1 |
C |
A |
17: 71,359,666 (GRCm39) |
T446K |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,631,031 (GRCm39) |
F2199I |
possibly damaging |
Het |
| Nr1h2 |
A |
T |
7: 44,199,437 (GRCm39) |
L438Q |
probably damaging |
Het |
| Or52n2c |
A |
G |
7: 104,574,330 (GRCm39) |
C214R |
probably benign |
Het |
| Pet117 |
T |
A |
2: 144,211,019 (GRCm39) |
V13E |
possibly damaging |
Het |
| Pnpla8 |
A |
G |
12: 44,330,210 (GRCm39) |
E254G |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,627,003 (GRCm39) |
E1485G |
probably damaging |
Het |
| Polr2a |
C |
T |
11: 69,630,293 (GRCm39) |
R1258Q |
probably benign |
Het |
| Ptpn4 |
T |
C |
1: 119,700,878 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
A |
T |
3: 78,993,266 (GRCm39) |
Y889N |
probably damaging |
Het |
| Sbf1 |
G |
A |
15: 89,184,572 (GRCm39) |
R1115C |
probably damaging |
Het |
| Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
| Shank2 |
A |
T |
7: 143,645,515 (GRCm39) |
T366S |
probably benign |
Het |
| Slc22a23 |
T |
C |
13: 34,489,163 (GRCm39) |
I241V |
probably benign |
Het |
| Sox11 |
G |
T |
12: 27,391,493 (GRCm39) |
S305R |
probably damaging |
Het |
| Sox21 |
T |
C |
14: 118,472,725 (GRCm39) |
H108R |
possibly damaging |
Het |
| Taok1 |
A |
T |
11: 77,446,479 (GRCm39) |
S417T |
probably benign |
Het |
| Tg |
C |
T |
15: 66,636,158 (GRCm39) |
R582C |
possibly damaging |
Het |
| Traf3 |
T |
C |
12: 111,221,658 (GRCm39) |
V273A |
possibly damaging |
Het |
| Tspyl3 |
T |
C |
2: 153,067,203 (GRCm39) |
T12A |
probably benign |
Het |
| Vmn2r86 |
A |
T |
10: 130,282,126 (GRCm39) |
I830N |
probably damaging |
Het |
| Vps26b |
A |
T |
9: 26,926,613 (GRCm39) |
F129I |
possibly damaging |
Het |
| Washc3 |
A |
G |
10: 88,037,714 (GRCm39) |
N24S |
probably damaging |
Het |
| Xirp2 |
C |
A |
2: 67,345,201 (GRCm39) |
Q2481K |
probably benign |
Het |
| Zfhx4 |
T |
C |
3: 5,478,047 (GRCm39) |
V3554A |
probably damaging |
Het |
|
| Other mutations in Anks6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Anks6
|
APN |
4 |
47,046,054 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01886:Anks6
|
APN |
4 |
47,044,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02903:Anks6
|
APN |
4 |
47,045,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4131001:Anks6
|
UTSW |
4 |
47,027,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0632:Anks6
|
UTSW |
4 |
47,033,167 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1220:Anks6
|
UTSW |
4 |
47,025,767 (GRCm39) |
splice site |
probably benign |
|
|
R1398:Anks6
|
UTSW |
4 |
47,044,926 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1479:Anks6
|
UTSW |
4 |
47,044,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1519:Anks6
|
UTSW |
4 |
47,027,152 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1713:Anks6
|
UTSW |
4 |
47,039,726 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1781:Anks6
|
UTSW |
4 |
47,043,639 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1853:Anks6
|
UTSW |
4 |
47,049,387 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2364:Anks6
|
UTSW |
4 |
47,027,248 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3790:Anks6
|
UTSW |
4 |
47,049,212 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4432:Anks6
|
UTSW |
4 |
47,044,905 (GRCm39) |
nonsense |
probably null |
|
|
R4700:Anks6
|
UTSW |
4 |
47,033,127 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4847:Anks6
|
UTSW |
4 |
47,033,266 (GRCm39) |
missense |
probably benign |
|
|
R4876:Anks6
|
UTSW |
4 |
47,030,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4877:Anks6
|
UTSW |
4 |
47,030,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4878:Anks6
|
UTSW |
4 |
47,030,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4879:Anks6
|
UTSW |
4 |
47,030,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4961:Anks6
|
UTSW |
4 |
47,030,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4962:Anks6
|
UTSW |
4 |
47,030,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4968:Anks6
|
UTSW |
4 |
47,030,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4970:Anks6
|
UTSW |
4 |
47,030,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4971:Anks6
|
UTSW |
4 |
47,030,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Anks6
|
UTSW |
4 |
47,030,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5113:Anks6
|
UTSW |
4 |
47,030,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5389:Anks6
|
UTSW |
4 |
47,038,900 (GRCm39) |
splice site |
probably benign |
|
|
R5569:Anks6
|
UTSW |
4 |
47,045,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5857:Anks6
|
UTSW |
4 |
47,039,736 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5977:Anks6
|
UTSW |
4 |
47,035,748 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5978:Anks6
|
UTSW |
4 |
47,049,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7175:Anks6
|
UTSW |
4 |
47,046,268 (GRCm39) |
splice site |
probably null |
|
|
R7454:Anks6
|
UTSW |
4 |
47,038,919 (GRCm39) |
missense |
unknown |
|
|
R7874:Anks6
|
UTSW |
4 |
47,049,275 (GRCm39) |
missense |
unknown |
|
|
R8146:Anks6
|
UTSW |
4 |
47,043,605 (GRCm39) |
missense |
unknown |
|
|
R8437:Anks6
|
UTSW |
4 |
47,030,705 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9454:Anks6
|
UTSW |
4 |
47,016,789 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9462:Anks6
|
UTSW |
4 |
47,033,142 (GRCm39) |
missense |
unknown |
|
|
R9567:Anks6
|
UTSW |
4 |
47,044,880 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAAAGCCACAGCAGGGAC -3'
(R):5'- GGATGAACTGCTGGGCATTAC -3'
Sequencing Primer
(F):5'- GCAGGGACCAGGGTGTTG -3'
(R):5'- ATGGCCGCTGTTCAGCATG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation