Incidental Mutation 'R1220:Anks6'
| ID |
99987 |
| 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 |
039289-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1220 (G1)
|
| Quality Score |
176 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
47015669-47057427 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 47025767 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: ENSMUST00000152479
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229609
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.2%
|
| Validation Efficiency |
100% (35/35) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm1 |
C |
A |
7: 119,257,537 (GRCm39) |
S407R |
probably benign |
Het |
| Add2 |
A |
T |
6: 86,063,982 (GRCm39) |
M94L |
possibly damaging |
Het |
| Atxn1 |
A |
G |
13: 45,710,899 (GRCm39) |
S678P |
probably benign |
Het |
| Ccnc |
A |
G |
4: 21,732,491 (GRCm39) |
Y76C |
probably damaging |
Het |
| Col1a1 |
G |
T |
11: 94,841,957 (GRCm39) |
A1335S |
unknown |
Het |
| Col25a1 |
G |
T |
3: 130,182,574 (GRCm39) |
|
probably benign |
Het |
| Commd10 |
C |
A |
18: 47,220,107 (GRCm39) |
Q195K |
probably damaging |
Het |
| Cps1 |
G |
A |
1: 67,243,862 (GRCm39) |
|
probably null |
Het |
| Cramp1 |
A |
T |
17: 25,201,211 (GRCm39) |
V757D |
probably damaging |
Het |
| Cttn |
T |
C |
7: 144,017,699 (GRCm39) |
T13A |
probably benign |
Het |
| Eftud2 |
A |
G |
11: 102,742,573 (GRCm39) |
|
probably benign |
Het |
| Eif4enif1 |
A |
G |
11: 3,189,493 (GRCm39) |
|
probably benign |
Het |
| Exoc3l2 |
T |
A |
7: 19,225,709 (GRCm39) |
|
probably benign |
Het |
| Fam118b |
T |
C |
9: 35,134,969 (GRCm39) |
S213G |
possibly damaging |
Het |
| Katnal1 |
G |
A |
5: 148,831,061 (GRCm39) |
A171V |
probably benign |
Het |
| Lrig3 |
A |
G |
10: 125,832,945 (GRCm39) |
N273S |
probably damaging |
Het |
| Lrriq1 |
G |
A |
10: 102,906,990 (GRCm39) |
R1577W |
probably benign |
Het |
| Or1e26 |
A |
C |
11: 73,480,203 (GRCm39) |
Y120* |
probably null |
Het |
| Or5p70 |
T |
A |
7: 107,994,539 (GRCm39) |
S71T |
probably benign |
Het |
| Pmel |
A |
G |
10: 128,549,929 (GRCm39) |
D30G |
probably benign |
Het |
| Ppp1r15a |
T |
C |
7: 45,173,293 (GRCm39) |
Y505C |
probably damaging |
Het |
| Prpf40b |
C |
T |
15: 99,214,229 (GRCm39) |
R830C |
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,566,479 (GRCm39) |
D106E |
probably damaging |
Het |
| Rad18 |
C |
A |
6: 112,626,625 (GRCm39) |
E141* |
probably null |
Het |
| Ros1 |
C |
T |
10: 51,974,966 (GRCm39) |
V1540M |
probably damaging |
Het |
| Secisbp2 |
G |
A |
13: 51,810,941 (GRCm39) |
R201H |
probably damaging |
Het |
| Shisa6 |
A |
G |
11: 66,110,836 (GRCm39) |
S302P |
probably damaging |
Het |
| Slamf9 |
C |
A |
1: 172,304,898 (GRCm39) |
Q171K |
probably benign |
Het |
| Sox6 |
T |
A |
7: 115,261,677 (GRCm39) |
T180S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,553,998 (GRCm39) |
S30902G |
possibly damaging |
Het |
| Xirp1 |
A |
G |
9: 119,846,982 (GRCm39) |
F634L |
possibly damaging |
Het |
| Yrdc |
T |
A |
4: 124,748,329 (GRCm39) |
S278T |
possibly 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGAGACATTTCATGCGAAAGCCC -3'
(R):5'- ACAGGCAGGTTTTATTCCCAGTAGC -3'
Sequencing Primer
(F):5'- GCGAAAGCCCTTGCTTTAATG -3'
(R):5'- GCTGGAACTTCAGAATCTACTGC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation