Incidental Mutation 'IGL00465:Anks6'
ID |
332119 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Anks6
|
Ensembl Gene |
ENSMUSG00000066191 |
Gene Name |
ankyrin repeat and sterile alpha motif domain containing 6 |
Synonyms |
SamCystin, 2210417J20Rik, Samd6, b2b1801.1Clo, LOC269533 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00465
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
47015669-47057427 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 47046054 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 279
(D279V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155271
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084616]
[ENSMUST00000107747]
[ENSMUST00000229609]
|
AlphaFold |
Q6GQX6 |
Predicted Effect |
unknown
Transcript: ENSMUST00000084616
AA Change: D279V
|
SMART Domains |
Protein: ENSMUSP00000081665 Gene: ENSMUSG00000066191 AA Change: D279V
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: D279V
PolyPhen 2
Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000103376 Gene: ENSMUSG00000066191 AA Change: D279V
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 |
probably damaging
Transcript: ENSMUST00000229609
AA Change: D279V
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
A |
T |
15: 60,793,102 (GRCm39) |
S2T |
probably damaging |
Het |
Adamts13 |
T |
A |
2: 26,863,567 (GRCm39) |
W7R |
probably benign |
Het |
C4bp |
A |
T |
1: 130,566,871 (GRCm39) |
L335Q |
probably damaging |
Het |
Cd109 |
A |
T |
9: 78,568,216 (GRCm39) |
K299* |
probably null |
Het |
Cd200r2 |
A |
T |
16: 44,729,651 (GRCm39) |
H102L |
probably damaging |
Het |
Col12a1 |
A |
G |
9: 79,604,863 (GRCm39) |
Y662H |
probably damaging |
Het |
Cyp2c37 |
T |
C |
19: 39,990,441 (GRCm39) |
F380L |
probably benign |
Het |
Deup1 |
A |
G |
9: 15,472,666 (GRCm39) |
S549P |
probably damaging |
Het |
Dysf |
G |
T |
6: 84,176,830 (GRCm39) |
|
probably null |
Het |
Etaa1 |
A |
T |
11: 17,897,825 (GRCm39) |
C166* |
probably null |
Het |
Fam227b |
T |
C |
2: 125,986,245 (GRCm39) |
|
probably null |
Het |
Gucy1b2 |
T |
G |
14: 62,640,649 (GRCm39) |
Q752P |
probably benign |
Het |
Hal |
T |
C |
10: 93,325,931 (GRCm39) |
|
probably null |
Het |
Hao1 |
C |
A |
2: 134,396,190 (GRCm39) |
K21N |
probably damaging |
Het |
Itga4 |
T |
C |
2: 79,122,394 (GRCm39) |
F536L |
probably benign |
Het |
Lmod3 |
A |
T |
6: 97,224,822 (GRCm39) |
I333N |
probably damaging |
Het |
Mgme1 |
T |
A |
2: 144,121,436 (GRCm39) |
D297E |
probably damaging |
Het |
Myh2 |
G |
T |
11: 67,069,659 (GRCm39) |
|
probably benign |
Het |
Myo7a |
A |
G |
7: 97,751,833 (GRCm39) |
M70T |
probably damaging |
Het |
Nav3 |
T |
C |
10: 109,688,607 (GRCm39) |
T557A |
probably damaging |
Het |
Nif3l1 |
C |
A |
1: 58,494,845 (GRCm39) |
H271Q |
possibly damaging |
Het |
Nostrin |
A |
G |
2: 69,015,898 (GRCm39) |
|
probably benign |
Het |
Nxn |
C |
A |
11: 76,165,481 (GRCm39) |
|
probably benign |
Het |
Pcdhb22 |
A |
T |
18: 37,653,185 (GRCm39) |
D551V |
probably damaging |
Het |
Pde4d |
A |
G |
13: 110,073,221 (GRCm39) |
D339G |
possibly damaging |
Het |
Pkp4 |
T |
A |
2: 59,169,099 (GRCm39) |
S408T |
probably damaging |
Het |
Pxmp2 |
T |
C |
5: 110,431,582 (GRCm39) |
T54A |
probably benign |
Het |
Rif1 |
T |
A |
2: 52,011,019 (GRCm39) |
V2362E |
probably damaging |
Het |
Rps6kl1 |
A |
G |
12: 85,186,203 (GRCm39) |
S276P |
probably benign |
Het |
Scaf4 |
C |
A |
16: 90,044,169 (GRCm39) |
M601I |
unknown |
Het |
Scart2 |
A |
G |
7: 139,874,755 (GRCm39) |
Y411C |
probably damaging |
Het |
Setd7 |
T |
A |
3: 51,457,729 (GRCm39) |
T33S |
probably benign |
Het |
Shroom1 |
T |
A |
11: 53,354,921 (GRCm39) |
D280E |
probably benign |
Het |
Slc35f2 |
G |
T |
9: 53,705,298 (GRCm39) |
|
probably null |
Het |
Slitrk3 |
T |
A |
3: 72,958,436 (GRCm39) |
N112I |
probably damaging |
Het |
Spag1 |
A |
G |
15: 36,183,967 (GRCm39) |
|
probably benign |
Het |
Stx6 |
C |
T |
1: 155,077,679 (GRCm39) |
|
probably benign |
Het |
Sun1 |
A |
T |
5: 139,220,440 (GRCm39) |
|
probably null |
Het |
Tbl1xr1 |
G |
A |
3: 22,246,432 (GRCm39) |
|
probably null |
Het |
Tmc2 |
T |
C |
2: 130,103,224 (GRCm39) |
S787P |
possibly damaging |
Het |
Traf3ip3 |
C |
T |
1: 192,877,128 (GRCm39) |
|
probably benign |
Het |
Trip12 |
T |
G |
1: 84,741,582 (GRCm39) |
H559P |
probably damaging |
Het |
Trpm1 |
G |
T |
7: 63,897,215 (GRCm39) |
M272I |
possibly damaging |
Het |
Ttc21b |
T |
C |
2: 66,073,119 (GRCm39) |
E189G |
probably benign |
Het |
Tubd1 |
T |
C |
11: 86,445,894 (GRCm39) |
|
probably benign |
Het |
Vps13a |
T |
A |
19: 16,729,539 (GRCm39) |
T167S |
probably damaging |
Het |
Zbtb3 |
A |
G |
19: 8,781,029 (GRCm39) |
D214G |
possibly damaging |
Het |
Zfp658 |
A |
G |
7: 43,216,780 (GRCm39) |
D50G |
probably benign |
Het |
Zfp976 |
T |
A |
7: 42,263,109 (GRCm39) |
I243L |
unknown |
Het |
|
Other mutations in Anks6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
|
Posted On |
2015-08-05 |