Incidental Mutation 'R8328:Ankrd6'
| ID |
644189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd6
|
| Ensembl Gene |
ENSMUSG00000040183 |
| Gene Name |
ankyrin repeat domain 6 |
| Synonyms |
diversin |
| MMRRC Submission |
067727-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8328 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
32804035-32950841 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 32810215 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 489
(E489K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041300
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035719]
[ENSMUST00000084748]
[ENSMUST00000084749]
[ENSMUST00000084750]
[ENSMUST00000108166]
|
| AlphaFold |
Q69ZU8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035719
AA Change: E489K
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000041300
Gene: ENSMUSG00000040183
AA Change: E489K
| 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 |
possibly damaging
Transcript: ENSMUST00000084748
AA Change: E454K
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000081800
Gene: ENSMUSG00000040183
AA Change: E454K
| 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 benign
Transcript: ENSMUST00000084749
AA Change: E489K
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000081801
Gene: ENSMUSG00000040183
AA Change: E489K
| 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: ENSMUST00000084750
AA Change: E489K
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000081802
Gene: ENSMUSG00000040183
AA Change: E489K
| 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 |
possibly damaging
Transcript: ENSMUST00000108166
AA Change: E430K
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103801
Gene: ENSMUSG00000040183
AA Change: E430K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
A |
T |
6: 92,866,993 (GRCm39) |
M682K |
probably benign |
Het |
| Ankdd1b |
T |
A |
13: 96,591,374 (GRCm39) |
I42F |
possibly damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,187,517 (GRCm39) |
H259Q |
possibly damaging |
Het |
| Atosb |
T |
C |
4: 43,034,751 (GRCm39) |
T323A |
probably benign |
Het |
| C3 |
T |
C |
17: 57,527,973 (GRCm39) |
S749G |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,806,445 (GRCm39) |
S2338P |
probably benign |
Het |
| Ces2a |
A |
T |
8: 105,463,998 (GRCm39) |
N210I |
probably damaging |
Het |
| Cuzd1 |
A |
T |
7: 130,913,345 (GRCm39) |
V424D |
probably damaging |
Het |
| Cyp2j11 |
T |
A |
4: 96,236,605 (GRCm39) |
H67L |
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,922,115 (GRCm39) |
S800P |
probably damaging |
Het |
| Dmrta2 |
G |
T |
4: 109,837,206 (GRCm39) |
L49F |
unknown |
Het |
| Dpy19l1 |
T |
A |
9: 24,386,686 (GRCm39) |
K9* |
probably null |
Het |
| Dsc2 |
T |
C |
18: 20,165,576 (GRCm39) |
H843R |
possibly damaging |
Het |
| Dsg1b |
T |
A |
18: 20,510,007 (GRCm39) |
F6I |
probably benign |
Het |
| Hck |
C |
T |
2: 152,970,987 (GRCm39) |
A83V |
probably damaging |
Het |
| Hdc |
T |
C |
2: 126,443,803 (GRCm39) |
E292G |
probably damaging |
Het |
| Ighv1-23 |
A |
G |
12: 114,728,116 (GRCm39) |
L102P |
probably damaging |
Het |
| Kdm3b |
G |
A |
18: 34,926,123 (GRCm39) |
V88M |
probably damaging |
Het |
| Kremen2 |
A |
G |
17: 23,961,745 (GRCm39) |
V254A |
probably benign |
Het |
| Lrrc8e |
T |
A |
8: 4,285,641 (GRCm39) |
I622N |
probably damaging |
Het |
| Megf8 |
A |
G |
7: 25,046,917 (GRCm39) |
N1600S |
probably benign |
Het |
| Mical3 |
A |
G |
6: 120,912,138 (GRCm39) |
I1907T |
probably damaging |
Het |
| Nr4a3 |
T |
A |
4: 48,051,323 (GRCm39) |
Y26N |
probably damaging |
Het |
| Nrl |
T |
C |
14: 55,758,163 (GRCm39) |
E188G |
probably damaging |
Het |
| Or4d1 |
A |
G |
11: 87,804,985 (GRCm39) |
M249T |
possibly damaging |
Het |
| Or9e1 |
T |
A |
11: 58,732,460 (GRCm39) |
D173E |
probably benign |
Het |
| Polr1a |
G |
A |
6: 71,897,718 (GRCm39) |
E238K |
probably benign |
Het |
| Pramel26 |
A |
G |
4: 143,537,380 (GRCm39) |
L317P |
probably damaging |
Het |
| Prr5 |
G |
C |
15: 84,587,387 (GRCm39) |
*388S |
probably null |
Het |
| Rptor |
A |
G |
11: 119,783,473 (GRCm39) |
T1156A |
probably benign |
Het |
| Slc9c1 |
T |
A |
16: 45,398,227 (GRCm39) |
I664K |
probably damaging |
Het |
| Stn1 |
C |
A |
19: 47,505,498 (GRCm39) |
R152L |
probably damaging |
Het |
| Syde2 |
T |
C |
3: 145,721,496 (GRCm39) |
V1121A |
probably benign |
Het |
| Vmn1r158 |
T |
C |
7: 22,489,487 (GRCm39) |
T241A |
probably damaging |
Het |
| Vmn1r209 |
C |
A |
13: 22,990,643 (GRCm39) |
V16L |
probably benign |
Het |
| Wdr19 |
A |
G |
5: 65,382,638 (GRCm39) |
E454G |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,392,726 (GRCm39) |
E4590K |
unknown |
Het |
| Zfp579 |
T |
G |
7: 4,997,866 (GRCm39) |
H15P |
unknown |
Het |
| Zfp628 |
A |
G |
7: 4,922,813 (GRCm39) |
N345S |
probably benign |
Het |
| Zfp944 |
T |
A |
17: 22,558,705 (GRCm39) |
K181* |
probably null |
Het |
| Zscan5b |
C |
T |
7: 6,236,946 (GRCm39) |
P232S |
possibly damaging |
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 |
|
R5335:Ankrd6
|
UTSW |
4 |
32,818,651 (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 |
|
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'- GGACTACACATTCTTCGCTCCTAAC -3'
(R):5'- CGTGCTGTGAAATAGGGCAG -3'
Sequencing Primer
(F):5'- CTTTATTAGGGCTACAGAAACAACAG -3'
(R):5'- GAAGTCCTTTGTCTCTTTTGCAGAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation