Incidental Mutation 'R4847:Anks6'
| ID |
373292 |
| 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 |
042460-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4847 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
47015669-47057427 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47033266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 600
(T600A)
|
| 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: T532A
|
| SMART Domains |
Protein: ENSMUSP00000081665
Gene: ENSMUSG00000066191
AA Change: T532A
| 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: T600A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103376
Gene: ENSMUSG00000066191
AA Change: T600A
| 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: T600A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
C |
T |
11: 80,264,940 (GRCm39) |
V171M |
probably damaging |
Het |
| Abhd3 |
A |
G |
18: 10,647,786 (GRCm39) |
S328P |
possibly damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Aldh1b1 |
G |
T |
4: 45,802,625 (GRCm39) |
K54N |
possibly damaging |
Het |
| Amacr |
C |
T |
15: 10,994,958 (GRCm39) |
Q257* |
probably null |
Het |
| Ankrd12 |
A |
T |
17: 66,331,087 (GRCm39) |
D309E |
probably benign |
Het |
| Ap3b1 |
A |
G |
13: 94,608,287 (GRCm39) |
E586G |
probably benign |
Het |
| Atad2b |
A |
G |
12: 4,994,901 (GRCm39) |
|
probably null |
Het |
| Cant1 |
G |
A |
11: 118,300,936 (GRCm39) |
Q240* |
probably null |
Het |
| Cep152 |
T |
C |
2: 125,460,394 (GRCm39) |
Y186C |
possibly damaging |
Het |
| Cep76 |
C |
A |
18: 67,752,639 (GRCm39) |
R603I |
probably benign |
Het |
| Chad |
T |
C |
11: 94,459,153 (GRCm39) |
S352P |
probably benign |
Het |
| Ckap2 |
T |
C |
8: 22,665,084 (GRCm39) |
E460G |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,671,348 (GRCm39) |
Y1004C |
unknown |
Het |
| Col9a3 |
G |
A |
2: 180,257,318 (GRCm39) |
G480S |
probably damaging |
Het |
| Cpsf2 |
A |
G |
12: 101,963,561 (GRCm39) |
D430G |
probably benign |
Het |
| Cramp1 |
T |
C |
17: 25,204,063 (GRCm39) |
D305G |
probably damaging |
Het |
| Ctnnd1 |
C |
A |
2: 84,452,396 (GRCm39) |
E76* |
probably null |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Cyp2c39 |
A |
T |
19: 39,549,340 (GRCm39) |
N286I |
probably damaging |
Het |
| Ddx11 |
A |
G |
17: 66,437,796 (GRCm39) |
E174G |
probably damaging |
Het |
| Ddx19a |
T |
C |
8: 111,703,677 (GRCm39) |
E369G |
probably damaging |
Het |
| Dnai7 |
T |
A |
6: 145,120,911 (GRCm39) |
H636L |
probably damaging |
Het |
| Epha1 |
T |
A |
6: 42,338,848 (GRCm39) |
D687V |
possibly damaging |
Het |
| Fgr |
T |
C |
4: 132,721,959 (GRCm39) |
W132R |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,692,851 (GRCm39) |
D170V |
possibly damaging |
Het |
| Gas2l1 |
A |
G |
11: 5,014,173 (GRCm39) |
S96P |
probably damaging |
Het |
| Gfy |
G |
A |
7: 44,827,020 (GRCm39) |
P359S |
probably damaging |
Het |
| Hexim2 |
A |
G |
11: 103,029,767 (GRCm39) |
N273S |
probably benign |
Het |
| Hr |
A |
T |
14: 70,793,916 (GRCm39) |
T59S |
probably benign |
Het |
| Ift70a2 |
A |
T |
2: 75,808,058 (GRCm39) |
N151K |
probably benign |
Het |
| Impdh2 |
A |
G |
9: 108,441,870 (GRCm39) |
Y166C |
probably damaging |
Het |
| Impdh2 |
T |
A |
9: 108,442,714 (GRCm39) |
F514Y |
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,810,251 (GRCm39) |
F731S |
probably benign |
Het |
| Klhl17 |
A |
T |
4: 156,316,054 (GRCm39) |
H433Q |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Kntc1 |
A |
C |
5: 123,940,337 (GRCm39) |
N1645T |
probably benign |
Het |
| Mcm8 |
A |
G |
2: 132,661,923 (GRCm39) |
I114V |
probably benign |
Het |
| Mink1 |
T |
A |
11: 70,492,854 (GRCm39) |
L160Q |
probably damaging |
Het |
| Mipol1 |
A |
T |
12: 57,350,282 (GRCm39) |
S27C |
probably damaging |
Het |
| Mthfr |
T |
C |
4: 148,132,596 (GRCm39) |
V217A |
probably damaging |
Het |
| Or5b105 |
A |
G |
19: 13,079,898 (GRCm39) |
Y257H |
probably damaging |
Het |
| Or5p53 |
T |
A |
7: 107,533,034 (GRCm39) |
C102* |
probably null |
Het |
| Pde1c |
T |
C |
6: 56,100,019 (GRCm39) |
K614E |
possibly damaging |
Het |
| Pds5b |
A |
T |
5: 150,671,577 (GRCm39) |
E407V |
probably damaging |
Het |
| Pdzph1 |
A |
G |
17: 59,280,525 (GRCm39) |
S586P |
possibly damaging |
Het |
| Prkcb |
C |
T |
7: 122,167,372 (GRCm39) |
R361W |
probably benign |
Het |
| Psen2 |
T |
A |
1: 180,073,197 (GRCm39) |
|
probably null |
Het |
| Ptk2 |
T |
A |
15: 73,103,805 (GRCm39) |
M82L |
probably benign |
Het |
| Ptk2b |
T |
C |
14: 66,411,331 (GRCm39) |
D400G |
probably damaging |
Het |
| Samd8 |
G |
A |
14: 21,842,503 (GRCm39) |
R275Q |
possibly damaging |
Het |
| Senp2 |
A |
G |
16: 21,857,386 (GRCm39) |
T403A |
possibly damaging |
Het |
| Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
| Skap2 |
T |
A |
6: 51,980,649 (GRCm39) |
I52L |
probably benign |
Het |
| Slc5a7 |
T |
C |
17: 54,584,168 (GRCm39) |
D374G |
possibly damaging |
Het |
| Slmap |
A |
T |
14: 26,147,763 (GRCm39) |
L699M |
possibly damaging |
Het |
| Sntg1 |
A |
C |
1: 8,665,706 (GRCm39) |
C203G |
possibly damaging |
Het |
| Stard9 |
T |
C |
2: 120,533,594 (GRCm39) |
S3284P |
probably benign |
Het |
| Tbx21 |
T |
C |
11: 97,005,857 (GRCm39) |
Y36C |
probably damaging |
Het |
| Tecpr2 |
A |
G |
12: 110,906,311 (GRCm39) |
Y971C |
probably damaging |
Het |
| Trpm5 |
T |
A |
7: 142,641,500 (GRCm39) |
I137F |
possibly damaging |
Het |
| Unk |
A |
G |
11: 115,945,232 (GRCm39) |
K426E |
probably damaging |
Het |
| Zc3hc1 |
T |
C |
6: 30,375,981 (GRCm39) |
D193G |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACTGACCCATTTCCCAGTG -3'
(R):5'- GAGGGCACTCTGACTTATGAG -3'
Sequencing Primer
(F):5'- CATTTCCCAGTGGCCTGTGG -3'
(R):5'- GCACTCTGACTTATGAGACTGG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation