Incidental Mutation 'R3790:Anks6'
| ID |
272479 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3790 (G1)
|
| Quality Score |
223 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
47015669-47057427 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 47049212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 231
(V231E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084616]
[ENSMUST00000107747]
[ENSMUST00000229609]
|
| AlphaFold |
Q6GQX6 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000084616
AA Change: V231E
|
| SMART Domains |
Protein: ENSMUSP00000081665
Gene: ENSMUSG00000066191
AA Change: V231E
| 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: V231E
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103376
Gene: ENSMUSG00000066191
AA Change: V231E
| 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 |
possibly damaging
Transcript: ENSMUST00000229609
AA Change: V231E
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.7230 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (47/48) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat3 |
G |
A |
17: 13,147,460 (GRCm39) |
Q186* |
probably null |
Het |
| Alk |
A |
G |
17: 72,910,427 (GRCm39) |
L93P |
possibly damaging |
Het |
| Ankrd24 |
C |
T |
10: 81,478,513 (GRCm39) |
|
probably benign |
Het |
| Ap5z1 |
C |
T |
5: 142,456,168 (GRCm39) |
S329L |
probably benign |
Het |
| Asic4 |
C |
A |
1: 75,446,485 (GRCm39) |
|
probably benign |
Het |
| Cemip2 |
T |
G |
19: 21,784,816 (GRCm39) |
I433S |
probably damaging |
Het |
| Cers4 |
C |
A |
8: 4,568,285 (GRCm39) |
Q113K |
possibly damaging |
Het |
| Ces3b |
A |
T |
8: 105,813,520 (GRCm39) |
I264F |
possibly damaging |
Het |
| Cops3 |
T |
C |
11: 59,718,797 (GRCm39) |
M166V |
probably benign |
Het |
| Corin |
T |
C |
5: 72,592,641 (GRCm39) |
Q184R |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 31,073,872 (GRCm39) |
R4514H |
probably damaging |
Het |
| Drosha |
T |
A |
15: 12,912,623 (GRCm39) |
Y1080* |
probably null |
Het |
| Gm53 |
T |
C |
11: 96,142,477 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
A |
G |
1: 150,498,745 (GRCm39) |
S4045P |
probably benign |
Het |
| Kif22 |
A |
G |
7: 126,628,668 (GRCm39) |
L480P |
probably damaging |
Het |
| Lepr |
A |
T |
4: 101,648,111 (GRCm39) |
|
probably benign |
Het |
| Lnpk |
A |
T |
2: 74,352,607 (GRCm39) |
S358R |
probably benign |
Het |
| Lnx1 |
A |
G |
5: 74,789,027 (GRCm39) |
|
probably benign |
Het |
| Lrsam1 |
T |
C |
2: 32,848,171 (GRCm39) |
E43G |
probably null |
Het |
| Mug1 |
G |
A |
6: 121,861,587 (GRCm39) |
V1350I |
probably benign |
Het |
| Nbea |
T |
A |
3: 55,912,450 (GRCm39) |
E1112D |
probably benign |
Het |
| Nepn |
T |
A |
10: 52,276,626 (GRCm39) |
L60I |
probably damaging |
Het |
| Oas1e |
T |
C |
5: 120,933,475 (GRCm39) |
E30G |
probably damaging |
Het |
| Or4c122 |
A |
G |
2: 89,079,337 (GRCm39) |
F234L |
probably benign |
Het |
| Or4k5 |
A |
C |
14: 50,386,026 (GRCm39) |
F102V |
possibly damaging |
Het |
| Pou2f1 |
G |
C |
1: 165,722,538 (GRCm39) |
P349R |
probably damaging |
Het |
| Prmt8 |
A |
T |
6: 127,688,110 (GRCm39) |
I236N |
probably damaging |
Het |
| Psg23 |
C |
A |
7: 18,346,126 (GRCm39) |
V190L |
probably benign |
Het |
| Psg29 |
A |
G |
7: 16,938,950 (GRCm39) |
K75E |
possibly damaging |
Het |
| Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
| Rgs4 |
A |
G |
1: 169,571,991 (GRCm39) |
S103P |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,828,747 (GRCm39) |
Y1144C |
probably damaging |
Het |
| Slc16a14 |
T |
C |
1: 84,907,001 (GRCm39) |
|
probably benign |
Het |
| Snrnp35 |
T |
A |
5: 124,628,248 (GRCm39) |
D20E |
probably damaging |
Het |
| Syce1l |
C |
A |
8: 114,369,897 (GRCm39) |
A10E |
possibly damaging |
Het |
| Tdp1 |
A |
G |
12: 99,858,011 (GRCm39) |
|
probably benign |
Het |
| Tmem212 |
T |
C |
3: 27,940,594 (GRCm39) |
|
probably null |
Het |
| Tomm20l |
C |
T |
12: 71,158,516 (GRCm39) |
A58V |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,568,471 (GRCm39) |
C27474F |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,804,552 (GRCm39) |
V240A |
probably benign |
Het |
| Vars1 |
A |
G |
17: 35,218,310 (GRCm39) |
V48A |
probably benign |
Het |
| Vmn2r1 |
T |
C |
3: 63,994,185 (GRCm39) |
|
probably null |
Het |
| Washc2 |
A |
G |
6: 116,224,933 (GRCm39) |
|
probably benign |
Het |
| Zfp943 |
A |
G |
17: 22,211,403 (GRCm39) |
D163G |
possibly damaging |
Het |
| Zmym5 |
T |
C |
14: 57,031,230 (GRCm39) |
Y626C |
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 |
|
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'- TGTAAAGCCACAGCAGGGAC -3'
(R):5'- AATGCTCAGAATCGGCTGG -3'
Sequencing Primer
(F):5'- AGTGACTGGGCCAGTGG -3'
(R):5'- ACACCCCTTCTGGAGAGTC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation