Incidental Mutation 'R5335:Ankrd6'
| ID |
423460 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd6
|
| Ensembl Gene |
ENSMUSG00000040183 |
| Gene Name |
ankyrin repeat domain 6 |
| Synonyms |
diversin |
| MMRRC Submission |
042916-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5335 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
32804035-32950841 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32818651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 225
(E225G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103801
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035719]
[ENSMUST00000084748]
[ENSMUST00000084749]
[ENSMUST00000084750]
[ENSMUST00000108166]
|
| AlphaFold |
Q69ZU8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035719
AA Change: E284G
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000041300
Gene: ENSMUSG00000040183
AA Change: E284G
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
9 |
38 |
2.55e2 |
SMART |
|
ANK
|
41 |
70 |
2.08e-7 |
SMART |
|
ANK
|
74 |
103 |
3.49e0 |
SMART |
|
ANK
|
107 |
136 |
5.24e-4 |
SMART |
|
ANK
|
140 |
169 |
3.74e0 |
SMART |
|
ANK
|
173 |
202 |
6.12e-5 |
SMART |
|
ANK
|
206 |
235 |
5.32e-5 |
SMART |
|
ANK
|
239 |
268 |
6.24e2 |
SMART |
|
low complexity region
|
365 |
377 |
N/A |
INTRINSIC |
|
coiled coil region
|
417 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
536 |
556 |
N/A |
INTRINSIC |
|
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
|
coiled coil region
|
672 |
712 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084748
|
| SMART Domains |
Protein: ENSMUSP00000081800
Gene: ENSMUSG00000040183
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
9 |
38 |
2.55e2 |
SMART |
|
ANK
|
41 |
70 |
2.08e-7 |
SMART |
|
ANK
|
74 |
103 |
3.49e0 |
SMART |
|
ANK
|
107 |
136 |
5.24e-4 |
SMART |
|
ANK
|
140 |
169 |
3.74e0 |
SMART |
|
ANK
|
173 |
202 |
6.12e-5 |
SMART |
|
ANK
|
206 |
235 |
5.32e-5 |
SMART |
|
ANK
|
239 |
269 |
2.11e2 |
SMART |
|
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
|
coiled coil region
|
382 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
501 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
590 |
608 |
N/A |
INTRINSIC |
|
coiled coil region
|
637 |
677 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084749
AA Change: E284G
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000081801
Gene: ENSMUSG00000040183
AA Change: E284G
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
9 |
38 |
2.55e2 |
SMART |
|
ANK
|
41 |
70 |
2.08e-7 |
SMART |
|
ANK
|
74 |
103 |
3.49e0 |
SMART |
|
ANK
|
107 |
136 |
5.24e-4 |
SMART |
|
ANK
|
140 |
169 |
3.74e0 |
SMART |
|
ANK
|
173 |
202 |
6.12e-5 |
SMART |
|
ANK
|
206 |
235 |
5.32e-5 |
SMART |
|
ANK
|
239 |
268 |
6.24e2 |
SMART |
|
low complexity region
|
365 |
377 |
N/A |
INTRINSIC |
|
coiled coil region
|
417 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
536 |
556 |
N/A |
INTRINSIC |
|
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
|
coiled coil region
|
672 |
712 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084750
AA Change: E284G
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000081802
Gene: ENSMUSG00000040183
AA Change: E284G
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
9 |
38 |
2.55e2 |
SMART |
|
ANK
|
41 |
70 |
2.08e-7 |
SMART |
|
ANK
|
74 |
103 |
3.49e0 |
SMART |
|
ANK
|
107 |
136 |
5.24e-4 |
SMART |
|
ANK
|
140 |
169 |
3.74e0 |
SMART |
|
ANK
|
173 |
202 |
6.12e-5 |
SMART |
|
ANK
|
206 |
235 |
5.32e-5 |
SMART |
|
ANK
|
239 |
268 |
6.24e2 |
SMART |
|
low complexity region
|
365 |
377 |
N/A |
INTRINSIC |
|
coiled coil region
|
417 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
536 |
556 |
N/A |
INTRINSIC |
|
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
|
coiled coil region
|
672 |
712 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108166
AA Change: E225G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103801
Gene: ENSMUSG00000040183
AA Change: E225G
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
9 |
38 |
2.55e2 |
SMART |
|
ANK
|
41 |
70 |
2.08e-7 |
SMART |
|
ANK
|
74 |
103 |
3.49e0 |
SMART |
|
ANK
|
107 |
136 |
3.74e0 |
SMART |
|
ANK
|
140 |
169 |
6.12e-5 |
SMART |
|
ANK
|
173 |
202 |
5.32e-5 |
SMART |
|
low complexity region
|
207 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
306 |
318 |
N/A |
INTRINSIC |
|
coiled coil region
|
358 |
386 |
N/A |
INTRINSIC |
|
low complexity region
|
468 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
561 |
579 |
N/A |
INTRINSIC |
|
coiled coil region
|
608 |
648 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140837
|
| Meta Mutation Damage Score |
0.0834 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
98% (62/63) |
| MGI Phenotype |
FUNCTION: This gene encodes a protein which is thought to be involved in the Wnt signaling pathway and embryonic axis formation. Similar genes have been found in human, rhesus macaque, and zebrafish. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display sporadic disruption of utricle hair cell polarity but normal cochlear and vestibular hair cell morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010003K11Rik |
A |
G |
19: 4,548,292 (GRCm39) |
W86R |
probably damaging |
Het |
| Atxn10 |
A |
G |
15: 85,220,785 (GRCm39) |
|
probably null |
Het |
| Bcas2 |
A |
G |
3: 103,082,951 (GRCm39) |
I146V |
probably damaging |
Het |
| C2cd6 |
T |
A |
1: 59,043,393 (GRCm39) |
|
noncoding transcript |
Het |
| Cachd1 |
G |
A |
4: 100,825,282 (GRCm39) |
V579I |
possibly damaging |
Het |
| Col11a1 |
A |
G |
3: 113,888,889 (GRCm39) |
T311A |
unknown |
Het |
| Cyp2c50 |
A |
T |
19: 40,079,060 (GRCm39) |
L134F |
probably benign |
Het |
| Cyp2j11 |
T |
C |
4: 96,195,589 (GRCm39) |
H369R |
probably damaging |
Het |
| Dis3 |
A |
G |
14: 99,335,089 (GRCm39) |
V171A |
possibly damaging |
Het |
| Dnah12 |
A |
G |
14: 26,601,695 (GRCm39) |
N3718D |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,003,340 (GRCm39) |
I541V |
probably damaging |
Het |
| Eif3i |
T |
C |
4: 129,488,979 (GRCm39) |
D86G |
probably benign |
Het |
| Epc1 |
C |
T |
18: 6,490,689 (GRCm39) |
|
probably benign |
Het |
| Epc2 |
A |
G |
2: 49,403,242 (GRCm39) |
N110S |
probably benign |
Het |
| Epha8 |
A |
T |
4: 136,659,246 (GRCm39) |
L831Q |
probably damaging |
Het |
| Esd |
G |
T |
14: 74,979,553 (GRCm39) |
R119I |
probably damaging |
Het |
| F2 |
T |
C |
2: 91,465,277 (GRCm39) |
K96E |
possibly damaging |
Het |
| Fcgbp |
T |
C |
7: 27,789,159 (GRCm39) |
V575A |
probably damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gemin6 |
T |
C |
17: 80,533,184 (GRCm39) |
V39A |
probably damaging |
Het |
| Glmp |
G |
T |
3: 88,233,962 (GRCm39) |
|
probably benign |
Het |
| Gm10306 |
C |
A |
4: 94,445,044 (GRCm39) |
|
probably benign |
Het |
| Gm4846 |
A |
T |
1: 166,325,022 (GRCm39) |
L23* |
probably null |
Het |
| Grik1 |
CGG |
CGGG |
16: 87,720,082 (GRCm39) |
|
probably null |
Het |
| Ifi203 |
T |
C |
1: 173,754,485 (GRCm39) |
T749A |
possibly damaging |
Het |
| Kcnip2 |
C |
A |
19: 45,782,685 (GRCm39) |
A133S |
probably benign |
Het |
| Limch1 |
A |
T |
5: 67,039,300 (GRCm39) |
I76F |
probably damaging |
Het |
| Mcph1 |
T |
A |
8: 18,739,077 (GRCm39) |
|
probably null |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mtcl3 |
A |
T |
10: 29,023,102 (GRCm39) |
I150L |
probably benign |
Het |
| Myh7 |
A |
G |
14: 55,224,020 (GRCm39) |
|
probably benign |
Het |
| Odad2 |
A |
T |
18: 7,294,566 (GRCm39) |
Y16N |
probably benign |
Het |
| Opcml |
A |
G |
9: 28,586,621 (GRCm39) |
D113G |
possibly damaging |
Het |
| Or1j17 |
A |
T |
2: 36,578,106 (GRCm39) |
I31F |
probably benign |
Het |
| Or1x2 |
A |
C |
11: 50,918,161 (GRCm39) |
N111H |
probably benign |
Het |
| Or2ag18 |
A |
C |
7: 106,404,941 (GRCm39) |
S243A |
probably damaging |
Het |
| Or2b6 |
A |
C |
13: 21,822,949 (GRCm39) |
V248G |
probably damaging |
Het |
| Or51f1d |
A |
C |
7: 102,700,742 (GRCm39) |
D79A |
probably damaging |
Het |
| Or52s19 |
A |
C |
7: 103,007,729 (GRCm39) |
L224R |
probably damaging |
Het |
| Or5j1 |
T |
G |
2: 86,879,509 (GRCm39) |
K24Q |
probably damaging |
Het |
| Pcdhb1 |
G |
T |
18: 37,400,308 (GRCm39) |
C753F |
probably benign |
Het |
| Phip |
T |
C |
9: 82,782,809 (GRCm39) |
S879G |
possibly damaging |
Het |
| Pi4k2b |
A |
G |
5: 52,899,098 (GRCm39) |
D13G |
possibly damaging |
Het |
| Ptpn18 |
A |
T |
1: 34,502,259 (GRCm39) |
I68F |
probably damaging |
Het |
| Rnf168 |
C |
T |
16: 32,117,402 (GRCm39) |
T321I |
possibly damaging |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Srgap1 |
C |
T |
10: 121,621,282 (GRCm39) |
|
probably benign |
Het |
| Sry |
A |
T |
Y: 2,663,647 (GRCm39) |
H4Q |
probably benign |
Het |
| Taf2 |
G |
A |
15: 54,909,136 (GRCm39) |
A703V |
probably benign |
Het |
| Taf5l |
A |
G |
8: 124,730,390 (GRCm39) |
F65L |
probably damaging |
Het |
| Tcp10b |
T |
C |
17: 13,281,954 (GRCm39) |
|
probably null |
Het |
| Timm44 |
A |
T |
8: 4,316,814 (GRCm39) |
I273N |
probably damaging |
Het |
| Tspan4 |
A |
G |
7: 141,069,528 (GRCm39) |
T43A |
probably damaging |
Het |
| Ube2r2 |
T |
C |
4: 41,190,846 (GRCm39) |
|
probably benign |
Het |
| Urgcp |
T |
C |
11: 5,667,754 (GRCm39) |
T195A |
possibly damaging |
Het |
| Vmn1r197 |
T |
C |
13: 22,512,361 (GRCm39) |
I94T |
probably damaging |
Het |
| Vmn2r15 |
A |
T |
5: 109,434,673 (GRCm39) |
I677K |
probably damaging |
Het |
| Zfp853 |
T |
A |
5: 143,274,318 (GRCm39) |
H434L |
unknown |
Het |
|
| Other mutations in Ankrd6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02489:Ankrd6
|
APN |
4 |
32,810,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03247:Ankrd6
|
APN |
4 |
32,860,441 (GRCm39) |
start codon destroyed |
possibly damaging |
0.76 |
|
IGL03382:Ankrd6
|
APN |
4 |
32,808,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0360:Ankrd6
|
UTSW |
4 |
32,836,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0711:Ankrd6
|
UTSW |
4 |
32,815,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1074:Ankrd6
|
UTSW |
4 |
32,822,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1075:Ankrd6
|
UTSW |
4 |
32,822,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1498:Ankrd6
|
UTSW |
4 |
32,810,289 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1719:Ankrd6
|
UTSW |
4 |
32,828,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1823:Ankrd6
|
UTSW |
4 |
32,824,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2889:Ankrd6
|
UTSW |
4 |
32,818,704 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2897:Ankrd6
|
UTSW |
4 |
32,860,438 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3815:Ankrd6
|
UTSW |
4 |
32,806,206 (GRCm39) |
missense |
probably benign |
0.39 |
|
R3836:Ankrd6
|
UTSW |
4 |
32,817,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4127:Ankrd6
|
UTSW |
4 |
32,822,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4994:Ankrd6
|
UTSW |
4 |
32,860,387 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5250:Ankrd6
|
UTSW |
4 |
32,860,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5291:Ankrd6
|
UTSW |
4 |
32,823,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5948:Ankrd6
|
UTSW |
4 |
32,817,075 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6336:Ankrd6
|
UTSW |
4 |
32,860,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6345:Ankrd6
|
UTSW |
4 |
32,810,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6349:Ankrd6
|
UTSW |
4 |
32,822,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6516:Ankrd6
|
UTSW |
4 |
32,836,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6902:Ankrd6
|
UTSW |
4 |
32,806,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6902:Ankrd6
|
UTSW |
4 |
32,806,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6999:Ankrd6
|
UTSW |
4 |
32,823,459 (GRCm39) |
missense |
probably benign |
|
|
R7044:Ankrd6
|
UTSW |
4 |
32,815,260 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7307:Ankrd6
|
UTSW |
4 |
32,816,949 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7394:Ankrd6
|
UTSW |
4 |
32,821,298 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7496:Ankrd6
|
UTSW |
4 |
32,810,299 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7662:Ankrd6
|
UTSW |
4 |
32,818,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7873:Ankrd6
|
UTSW |
4 |
32,806,499 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8328:Ankrd6
|
UTSW |
4 |
32,810,215 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8739:Ankrd6
|
UTSW |
4 |
32,806,337 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8937:Ankrd6
|
UTSW |
4 |
32,823,452 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9211:Ankrd6
|
UTSW |
4 |
32,806,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9295:Ankrd6
|
UTSW |
4 |
32,822,160 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9319:Ankrd6
|
UTSW |
4 |
32,806,324 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9702:Ankrd6
|
UTSW |
4 |
32,810,202 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9741:Ankrd6
|
UTSW |
4 |
32,860,339 (GRCm39) |
nonsense |
probably null |
|
|
X0064:Ankrd6
|
UTSW |
4 |
32,806,435 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1176:Ankrd6
|
UTSW |
4 |
32,824,486 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Ankrd6
|
UTSW |
4 |
32,806,326 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1176:Ankrd6
|
UTSW |
4 |
32,806,229 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAAACTCAGGGCACAGTG -3'
(R):5'- TAGTGTTTCCCACCAGGCTG -3'
Sequencing Primer
(F):5'- AGGAGGAAGGCCAATCCCTC -3'
(R):5'- CCACCAGGCTGTGTGTTCTG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation