Incidental Mutation 'R7044:Ankrd6'
| ID |
547201 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd6
|
| Ensembl Gene |
ENSMUSG00000040183 |
| Gene Name |
ankyrin repeat domain 6 |
| Synonyms |
diversin |
| MMRRC Submission |
045143-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7044 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
32804035-32950841 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32815260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 448
(Q448L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081802
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035719]
[ENSMUST00000084748]
[ENSMUST00000084749]
[ENSMUST00000084750]
[ENSMUST00000108166]
|
| AlphaFold |
Q69ZU8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035719
AA Change: Q448L
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000041300
Gene: ENSMUSG00000040183
AA Change: Q448L
| 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: Q413L
PolyPhen 2
Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000081800
Gene: ENSMUSG00000040183
AA Change: Q413L
| 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 |
possibly damaging
Transcript: ENSMUST00000084749
AA Change: Q448L
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000081801
Gene: ENSMUSG00000040183
AA Change: Q448L
| 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: ENSMUST00000084750
AA Change: Q448L
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000081802
Gene: ENSMUSG00000040183
AA Change: Q448L
| 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: ENSMUST00000108166
AA Change: Q389L
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103801
Gene: ENSMUSG00000040183
AA Change: Q389L
| 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 |
|
| Meta Mutation Damage Score |
0.0976 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (40/41) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Appl1 |
A |
G |
14: 26,650,634 (GRCm39) |
S513P |
possibly damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,881,134 (GRCm39) |
K1066* |
probably null |
Het |
| Ckap5 |
T |
C |
2: 91,407,946 (GRCm39) |
I824T |
probably benign |
Het |
| Cracdl |
C |
T |
1: 37,651,361 (GRCm39) |
D1169N |
possibly damaging |
Het |
| Ctbp2 |
T |
C |
7: 132,616,831 (GRCm39) |
R35G |
possibly damaging |
Het |
| Dcdc2c |
T |
C |
12: 28,520,493 (GRCm39) |
|
probably benign |
Het |
| Eya1 |
T |
A |
1: 14,301,634 (GRCm39) |
|
probably null |
Het |
| Fat4 |
G |
C |
3: 39,064,959 (GRCm39) |
A4972P |
probably benign |
Het |
| Fat4 |
C |
T |
3: 39,064,960 (GRCm39) |
A4972V |
probably benign |
Het |
| Fbxl8 |
T |
A |
8: 105,993,647 (GRCm39) |
M1K |
probably null |
Het |
| Glyat |
T |
C |
19: 12,627,629 (GRCm39) |
S75P |
probably benign |
Het |
| Gm3543 |
T |
A |
14: 41,802,023 (GRCm39) |
I154F |
probably damaging |
Het |
| Gm4565 |
T |
A |
7: 22,282,795 (GRCm39) |
M8L |
probably benign |
Het |
| Gpr179 |
T |
C |
11: 97,240,616 (GRCm39) |
Q269R |
probably benign |
Het |
| Hjv |
C |
A |
3: 96,434,790 (GRCm39) |
H176Q |
possibly damaging |
Het |
| Ikzf2 |
T |
C |
1: 69,578,060 (GRCm39) |
H483R |
possibly damaging |
Het |
| Il25 |
G |
A |
14: 55,170,615 (GRCm39) |
A63T |
probably benign |
Het |
| Krt27 |
T |
A |
11: 99,237,640 (GRCm39) |
N366I |
probably benign |
Het |
| Mfge8 |
A |
G |
7: 78,792,268 (GRCm39) |
V219A |
probably benign |
Het |
| Nrbp1 |
T |
C |
5: 31,407,290 (GRCm39) |
V373A |
probably damaging |
Het |
| Or4c100 |
A |
G |
2: 88,356,830 (GRCm39) |
N301S |
probably benign |
Het |
| Otulinl |
A |
G |
15: 27,657,321 (GRCm39) |
|
probably benign |
Het |
| Pcdh20 |
A |
G |
14: 88,706,607 (GRCm39) |
I231T |
probably damaging |
Het |
| Pfkp |
A |
G |
13: 6,631,603 (GRCm39) |
W151R |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,286,013 (GRCm39) |
I1084T |
probably benign |
Het |
| Poteg |
T |
C |
8: 27,939,923 (GRCm39) |
C27R |
probably damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,044,345 (GRCm39) |
V1266M |
probably damaging |
Het |
| Rpa1 |
T |
C |
11: 75,203,628 (GRCm39) |
D358G |
probably damaging |
Het |
| Slx9 |
T |
C |
10: 77,350,226 (GRCm39) |
D35G |
possibly damaging |
Het |
| Snapc4 |
A |
G |
2: 26,259,965 (GRCm39) |
S495P |
probably damaging |
Het |
| Surf6 |
A |
G |
2: 26,789,368 (GRCm39) |
I123T |
probably damaging |
Het |
| Sybu |
A |
T |
15: 44,541,091 (GRCm39) |
S324T |
possibly damaging |
Het |
| Trim3 |
A |
T |
7: 105,267,421 (GRCm39) |
S319R |
probably damaging |
Het |
| Trmt11 |
A |
G |
10: 30,466,930 (GRCm39) |
F72L |
probably benign |
Het |
| Tsks |
C |
T |
7: 44,593,216 (GRCm39) |
R61W |
probably damaging |
Het |
| Ube2k |
T |
C |
5: 65,738,772 (GRCm39) |
V36A |
possibly damaging |
Het |
| Ube3a |
T |
C |
7: 58,938,161 (GRCm39) |
V688A |
probably damaging |
Het |
| Vegfc |
A |
G |
8: 54,610,080 (GRCm39) |
K79E |
possibly damaging |
Het |
| Vmn1r77 |
G |
A |
7: 11,775,761 (GRCm39) |
R179Q |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,134,629 (GRCm39) |
F16I |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,841,248 (GRCm39) |
|
probably benign |
Het |
| Zfp600 |
C |
T |
4: 146,131,892 (GRCm39) |
Q187* |
probably null |
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 |
|
|
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'- CCTCTGCTTCCCAAGTGCG -3'
(R):5'- ACTTACACAGAGAGTAGTCCTGCC -3'
Sequencing Primer
(F):5'- ATCCAGACTGTCCTTGAATCTGTG -3'
(R):5'- TGCCCAGGGAGACATCTTTC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation