Incidental Mutation 'R5978:Anks6'
ID |
481244 |
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 |
044160-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5978 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
47015669-47057427 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 47049252 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 218
(S218C)
|
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: S218C
|
SMART Domains |
Protein: ENSMUSP00000081665 Gene: ENSMUSG00000066191 AA Change: S218C
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 damaging
Transcript: ENSMUST00000107747
AA Change: S218C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103376 Gene: ENSMUSG00000066191 AA Change: S218C
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 damaging
Transcript: ENSMUST00000229609
AA Change: S218C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp2c2 |
G |
A |
8: 120,476,614 (GRCm39) |
|
probably null |
Het |
Ccdc146 |
T |
G |
5: 21,521,966 (GRCm39) |
I353L |
probably benign |
Het |
Cst3 |
A |
T |
2: 148,714,741 (GRCm39) |
M112K |
probably benign |
Het |
Cst3 |
T |
G |
2: 148,714,742 (GRCm39) |
M112L |
probably benign |
Het |
Cyp2j11 |
A |
C |
4: 96,207,589 (GRCm39) |
L242R |
probably damaging |
Het |
Eif5b |
T |
C |
1: 38,037,361 (GRCm39) |
|
probably null |
Het |
Espl1 |
A |
G |
15: 102,224,209 (GRCm39) |
I1253M |
possibly damaging |
Het |
Fstl5 |
C |
T |
3: 76,052,392 (GRCm39) |
H41Y |
probably damaging |
Het |
Gm11011 |
T |
C |
2: 169,426,361 (GRCm39) |
K84R |
unknown |
Het |
Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
Heatr5b |
C |
A |
17: 79,113,465 (GRCm39) |
V923F |
probably damaging |
Het |
Hnrnpll |
G |
A |
17: 80,341,620 (GRCm39) |
T473M |
probably damaging |
Het |
Iars1 |
T |
A |
13: 49,876,469 (GRCm39) |
Y845N |
probably damaging |
Het |
Il34 |
T |
A |
8: 111,469,317 (GRCm39) |
D166V |
probably damaging |
Het |
Kel |
T |
A |
6: 41,664,979 (GRCm39) |
H595L |
probably benign |
Het |
Krt77 |
T |
C |
15: 101,771,363 (GRCm39) |
I313M |
probably benign |
Het |
Krt84 |
T |
C |
15: 101,438,665 (GRCm39) |
E274G |
probably damaging |
Het |
Mctp2 |
T |
C |
7: 71,739,936 (GRCm39) |
Y818C |
probably damaging |
Het |
Mrc1 |
A |
T |
2: 14,320,204 (GRCm39) |
Y1046F |
probably damaging |
Het |
Myom1 |
A |
T |
17: 71,424,438 (GRCm39) |
D1429V |
probably damaging |
Het |
Ncapg2 |
T |
C |
12: 116,388,291 (GRCm39) |
M325T |
possibly damaging |
Het |
Nf1 |
T |
A |
11: 79,431,245 (GRCm39) |
I1902N |
probably damaging |
Het |
Nkain3 |
A |
T |
4: 20,485,026 (GRCm39) |
|
probably null |
Het |
Nlrc5 |
A |
T |
8: 95,215,221 (GRCm39) |
N940Y |
probably damaging |
Het |
Nlrp9a |
T |
A |
7: 26,256,703 (GRCm39) |
I107K |
probably damaging |
Het |
Ntn5 |
T |
C |
7: 45,343,437 (GRCm39) |
S328P |
possibly damaging |
Het |
Or1j17 |
A |
C |
2: 36,578,694 (GRCm39) |
K227Q |
probably benign |
Het |
Parp8 |
A |
C |
13: 117,032,268 (GRCm39) |
S302A |
probably benign |
Het |
Ptgr2 |
G |
T |
12: 84,342,032 (GRCm39) |
E27* |
probably null |
Het |
Rnf115 |
T |
A |
3: 96,695,982 (GRCm39) |
I256N |
probably damaging |
Het |
Ryr3 |
T |
A |
2: 112,502,614 (GRCm39) |
H3515L |
probably benign |
Het |
Scel |
A |
G |
14: 103,766,690 (GRCm39) |
|
probably null |
Het |
Slc4a5 |
T |
A |
6: 83,254,518 (GRCm39) |
S572T |
probably benign |
Het |
Slc4a9 |
T |
G |
18: 36,668,456 (GRCm39) |
I705S |
probably damaging |
Het |
Spint4 |
C |
T |
2: 164,542,252 (GRCm39) |
P101L |
probably damaging |
Het |
Syt9 |
T |
A |
7: 107,035,620 (GRCm39) |
D212E |
probably benign |
Het |
Tmem39a |
T |
A |
16: 38,411,392 (GRCm39) |
M449K |
probably benign |
Het |
Ttn |
T |
C |
2: 76,639,143 (GRCm39) |
T13877A |
possibly damaging |
Het |
Ube2v2 |
T |
C |
16: 15,394,991 (GRCm39) |
N20S |
probably benign |
Het |
Vmn1r14 |
C |
T |
6: 57,210,929 (GRCm39) |
S169F |
probably benign |
Het |
Vps13d |
T |
C |
4: 144,849,181 (GRCm39) |
H2410R |
probably benign |
Het |
Wdr81 |
G |
A |
11: 75,335,224 (GRCm39) |
L1781F |
probably damaging |
Het |
Zfp91 |
A |
G |
19: 12,747,515 (GRCm39) |
I536T |
probably benign |
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 |
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'- TCTGTAAAGCCACAGCAGGG -3'
(R):5'- TCAATGCTCAGAATCGGCTG -3'
Sequencing Primer
(F):5'- ACCTGTTTTTGGCCTGACAG -3'
(R):5'- AGTGTGCTCACCGTGGCTTC -3'
|
Posted On |
2017-06-26 |