Incidental Mutation 'R5389:Anks6'
| ID |
425458 |
| 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 |
042961-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5389 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
47015669-47057427 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 47038900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084616]
[ENSMUST00000107747]
[ENSMUST00000229609]
|
| AlphaFold |
Q6GQX6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084616
|
| SMART Domains |
Protein: ENSMUSP00000081665
Gene: ENSMUSG00000066191
| 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
|
| SMART Domains |
Protein: ENSMUSP00000103376
Gene: ENSMUSG00000066191
| 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 |
noncoding transcript
Transcript: ENSMUST00000119580
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154664
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229609
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
98% (65/66) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
C |
18: 6,638,795 (GRCm39) |
V398A |
probably benign |
Het |
| A430033K04Rik |
T |
A |
5: 138,644,559 (GRCm39) |
V148E |
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Ankrd26 |
T |
A |
6: 118,485,536 (GRCm39) |
Q1446L |
possibly damaging |
Het |
| Arrb2 |
T |
C |
11: 70,329,484 (GRCm39) |
S265P |
probably damaging |
Het |
| Baiap2 |
T |
C |
11: 119,887,496 (GRCm39) |
S264P |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,329,103 (GRCm39) |
V938A |
probably damaging |
Het |
| Cavin4 |
G |
T |
4: 48,663,907 (GRCm39) |
V96F |
probably damaging |
Het |
| Cenpe |
T |
C |
3: 134,965,149 (GRCm39) |
|
probably null |
Het |
| Crocc2 |
C |
A |
1: 93,143,363 (GRCm39) |
Q1322K |
probably benign |
Het |
| Cryzl2 |
T |
A |
1: 157,289,546 (GRCm39) |
C61* |
probably null |
Het |
| Dazl |
T |
C |
17: 50,595,718 (GRCm39) |
I56V |
probably benign |
Het |
| Dnah12 |
A |
T |
14: 26,456,904 (GRCm39) |
D890V |
probably damaging |
Het |
| Dnah9 |
C |
A |
11: 65,986,140 (GRCm39) |
E1165* |
probably null |
Het |
| Dnmt3l |
T |
A |
10: 77,892,665 (GRCm39) |
|
probably null |
Het |
| Elp2 |
A |
G |
18: 24,739,960 (GRCm39) |
N62S |
possibly damaging |
Het |
| Entr1 |
T |
C |
2: 26,275,559 (GRCm39) |
D244G |
probably damaging |
Het |
| Fam216b |
T |
A |
14: 78,322,503 (GRCm39) |
H26L |
possibly damaging |
Het |
| Fbxw25 |
T |
A |
9: 109,481,954 (GRCm39) |
Q244L |
possibly damaging |
Het |
| G530012D18Rik |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
| Gvin3 |
T |
C |
7: 106,197,442 (GRCm39) |
|
noncoding transcript |
Het |
| Igf2r |
T |
C |
17: 12,944,303 (GRCm39) |
Y400C |
probably damaging |
Het |
| Iqcc |
A |
G |
4: 129,512,413 (GRCm39) |
F20L |
probably benign |
Het |
| Klhl5 |
T |
A |
5: 65,298,625 (GRCm39) |
L135M |
possibly damaging |
Het |
| Klk1b16 |
A |
T |
7: 43,790,412 (GRCm39) |
M196L |
possibly damaging |
Het |
| Ltf |
T |
C |
9: 110,858,719 (GRCm39) |
M489T |
possibly damaging |
Het |
| Mctp2 |
G |
T |
7: 71,863,835 (GRCm39) |
R343S |
possibly damaging |
Het |
| Nbas |
T |
A |
12: 13,584,578 (GRCm39) |
|
probably null |
Het |
| Ncr1 |
A |
T |
7: 4,343,932 (GRCm39) |
M177L |
probably benign |
Het |
| Net1 |
C |
T |
13: 3,936,170 (GRCm39) |
E305K |
probably damaging |
Het |
| Nfx1 |
T |
C |
4: 40,985,000 (GRCm39) |
F375L |
probably damaging |
Het |
| Notch3 |
T |
A |
17: 32,358,163 (GRCm39) |
I1687L |
probably benign |
Het |
| Obsl1 |
A |
T |
1: 75,479,905 (GRCm39) |
|
probably benign |
Het |
| Or2ag16 |
A |
T |
7: 106,352,290 (GRCm39) |
F102I |
probably damaging |
Het |
| Or2t46 |
C |
G |
11: 58,471,825 (GRCm39) |
L52V |
possibly damaging |
Het |
| Or51v14 |
G |
T |
7: 103,260,797 (GRCm39) |
Y254* |
probably null |
Het |
| Or5g23 |
A |
G |
2: 85,438,627 (GRCm39) |
F209S |
probably benign |
Het |
| Or5j3 |
G |
A |
2: 86,128,561 (GRCm39) |
V134M |
possibly damaging |
Het |
| Or5p79 |
A |
C |
7: 108,221,924 (GRCm39) |
I302L |
probably damaging |
Het |
| Orai1 |
A |
T |
5: 123,167,564 (GRCm39) |
M246L |
probably benign |
Het |
| Pcdhga12 |
G |
A |
18: 37,899,785 (GRCm39) |
A206T |
probably damaging |
Het |
| Plxdc2 |
C |
A |
2: 16,654,998 (GRCm39) |
T199K |
probably damaging |
Het |
| Prkd1 |
T |
A |
12: 50,389,920 (GRCm39) |
I819F |
probably damaging |
Het |
| Ptpn9 |
T |
C |
9: 56,964,121 (GRCm39) |
|
probably benign |
Het |
| Rabl6 |
T |
C |
2: 25,478,666 (GRCm39) |
E255G |
probably damaging |
Het |
| Sema3e |
T |
C |
5: 14,286,099 (GRCm39) |
|
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,115,699 (GRCm39) |
M282V |
possibly damaging |
Het |
| Slco1a7 |
A |
G |
6: 141,686,193 (GRCm39) |
F216L |
probably benign |
Het |
| Slco2b1 |
A |
G |
7: 99,335,132 (GRCm39) |
I216T |
probably damaging |
Het |
| Slco6b1 |
T |
C |
1: 96,916,309 (GRCm39) |
|
noncoding transcript |
Het |
| Slco6d1 |
A |
T |
1: 98,371,369 (GRCm39) |
I285F |
probably benign |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Sp9 |
C |
A |
2: 73,104,641 (GRCm39) |
N398K |
probably damaging |
Het |
| Sycp2 |
A |
C |
2: 178,019,495 (GRCm39) |
|
probably null |
Het |
| Tbc1d23 |
T |
C |
16: 57,019,291 (GRCm39) |
D219G |
probably damaging |
Het |
| Tdpoz3 |
A |
G |
3: 93,734,179 (GRCm39) |
R285G |
probably benign |
Het |
| Trim2 |
T |
A |
3: 84,074,960 (GRCm39) |
Q694L |
probably null |
Het |
| Trim23 |
T |
A |
13: 104,328,541 (GRCm39) |
V293D |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,665,183 (GRCm39) |
|
probably benign |
Het |
| Vmn2r12 |
T |
A |
5: 109,238,261 (GRCm39) |
Y493F |
probably benign |
Het |
| Vps41 |
T |
A |
13: 19,046,708 (GRCm39) |
I753N |
probably damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Yme1l1 |
G |
A |
2: 23,083,246 (GRCm39) |
G571R |
probably damaging |
Het |
| Zfp322a |
A |
T |
13: 23,541,149 (GRCm39) |
C198S |
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 |
|
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 |
|
R6933:Anks6
|
UTSW |
4 |
47,049,164 (GRCm39) |
missense |
probably benign |
0.25 |
|
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'- TGATCCATGGAAGCCAGTGC -3'
(R):5'- ATTTACGTCCCCAGGAGAGCTG -3'
Sequencing Primer
(F):5'- ATGGTACCCATCTGACCATCC -3'
(R):5'- TCCCCAGGAGAGCTGAATTTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation