Incidental Mutation 'IGL02819:Ankrd35'
| ID |
360919 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ankrd35
|
| Ensembl Gene |
ENSMUSG00000038354 |
| Gene Name |
ankyrin repeat domain 35 |
| Synonyms |
4732436F15Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02819
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
96577447-96598348 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96597524 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 983
(D983G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047244
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048427]
[ENSMUST00000122960]
|
| AlphaFold |
E9Q9D8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048427
AA Change: D983G
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000047244
Gene: ENSMUSG00000038354
AA Change: D983G
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
53 |
82 |
4.03e-5 |
SMART |
|
ANK
|
86 |
115 |
6.46e-4 |
SMART |
|
ANK
|
119 |
148 |
4.36e-1 |
SMART |
|
ANK
|
152 |
181 |
1.4e-4 |
SMART |
|
ANK
|
185 |
214 |
2.25e-3 |
SMART |
|
ANK
|
218 |
247 |
6.24e2 |
SMART |
|
coiled coil region
|
294 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
536 |
N/A |
INTRINSIC |
|
coiled coil region
|
606 |
653 |
N/A |
INTRINSIC |
|
coiled coil region
|
729 |
799 |
N/A |
INTRINSIC |
|
low complexity region
|
815 |
829 |
N/A |
INTRINSIC |
|
coiled coil region
|
847 |
956 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122960
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833439L19Rik |
C |
T |
13: 54,712,033 (GRCm39) |
|
probably benign |
Het |
| Abcb8 |
T |
A |
5: 24,611,422 (GRCm39) |
N470K |
probably benign |
Het |
| Adamtsl3 |
A |
T |
7: 82,223,329 (GRCm39) |
N1037Y |
probably damaging |
Het |
| Adcy3 |
T |
C |
12: 4,256,986 (GRCm39) |
|
probably benign |
Het |
| Asf1a |
A |
G |
10: 53,483,920 (GRCm39) |
T118A |
probably benign |
Het |
| Atp2a3 |
T |
C |
11: 72,868,033 (GRCm39) |
Y389H |
probably damaging |
Het |
| Atp5f1b |
T |
C |
10: 127,919,821 (GRCm39) |
I63T |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 143,028,946 (GRCm39) |
Y98H |
probably benign |
Het |
| Caprin2 |
A |
G |
6: 148,749,756 (GRCm39) |
V518A |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Clcn2 |
C |
A |
16: 20,528,006 (GRCm39) |
E487* |
probably null |
Het |
| Cog6 |
T |
A |
3: 52,916,966 (GRCm39) |
K184M |
probably damaging |
Het |
| Cpn1 |
A |
G |
19: 43,956,907 (GRCm39) |
Y286H |
probably damaging |
Het |
| Cpne9 |
A |
T |
6: 113,277,624 (GRCm39) |
S448C |
probably damaging |
Het |
| Csnk2a1 |
G |
T |
2: 152,116,005 (GRCm39) |
|
probably benign |
Het |
| Cys1 |
T |
C |
12: 24,717,169 (GRCm39) |
E132G |
possibly damaging |
Het |
| Depdc7 |
T |
C |
2: 104,555,071 (GRCm39) |
M280V |
probably benign |
Het |
| Fhad1 |
C |
T |
4: 141,646,069 (GRCm39) |
D298N |
probably benign |
Het |
| Golga1 |
T |
A |
2: 38,929,090 (GRCm39) |
N318Y |
probably null |
Het |
| Hsd3b6 |
A |
G |
3: 98,718,262 (GRCm39) |
V34A |
probably benign |
Het |
| Krt9 |
A |
G |
11: 100,082,346 (GRCm39) |
I193T |
probably damaging |
Het |
| Lama4 |
A |
T |
10: 38,902,565 (GRCm39) |
I180F |
possibly damaging |
Het |
| Lamc1 |
T |
C |
1: 153,126,407 (GRCm39) |
T458A |
probably damaging |
Het |
| Lin28b |
A |
T |
10: 45,346,155 (GRCm39) |
M1K |
probably null |
Het |
| Myo16 |
T |
C |
8: 10,372,600 (GRCm39) |
C100R |
probably damaging |
Het |
| Nt5c3 |
A |
T |
6: 56,860,718 (GRCm39) |
M279K |
probably damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,742,255 (GRCm39) |
Y1016C |
probably damaging |
Het |
| Rpl6 |
A |
G |
5: 121,345,264 (GRCm39) |
|
probably benign |
Het |
| Rpn2 |
G |
T |
2: 157,158,130 (GRCm39) |
|
probably null |
Het |
| Rspry1 |
T |
C |
8: 95,380,884 (GRCm39) |
V396A |
probably benign |
Het |
| Serpina3i |
C |
T |
12: 104,234,761 (GRCm39) |
T364I |
probably damaging |
Het |
| Shprh |
A |
G |
10: 11,030,509 (GRCm39) |
K242R |
possibly damaging |
Het |
| Slit3 |
A |
G |
11: 35,062,417 (GRCm39) |
N72S |
possibly damaging |
Het |
| Syt17 |
G |
A |
7: 118,009,143 (GRCm39) |
|
probably benign |
Het |
| Tatdn3 |
C |
A |
1: 190,787,541 (GRCm39) |
A114S |
probably benign |
Het |
| Tjp2 |
A |
G |
19: 24,091,469 (GRCm39) |
V564A |
probably damaging |
Het |
| Tmem117 |
T |
C |
15: 94,777,253 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf8 |
T |
C |
4: 144,995,703 (GRCm39) |
E452G |
probably damaging |
Het |
| Tns1 |
T |
C |
1: 73,976,407 (GRCm39) |
D1147G |
probably damaging |
Het |
| Traf6 |
T |
C |
2: 101,515,134 (GRCm39) |
S97P |
probably damaging |
Het |
| Ttc28 |
A |
T |
5: 111,414,449 (GRCm39) |
E1321D |
probably benign |
Het |
|
| Other mutations in Ankrd35 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00819:Ankrd35
|
APN |
3 |
96,590,350 (GRCm39) |
splice site |
probably null |
|
|
IGL00896:Ankrd35
|
APN |
3 |
96,591,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01565:Ankrd35
|
APN |
3 |
96,592,101 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01837:Ankrd35
|
APN |
3 |
96,587,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02605:Ankrd35
|
APN |
3 |
96,588,388 (GRCm39) |
splice site |
probably null |
|
|
IGL02994:Ankrd35
|
APN |
3 |
96,590,307 (GRCm39) |
splice site |
probably benign |
|
|
IGL03083:Ankrd35
|
APN |
3 |
96,592,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03105:Ankrd35
|
APN |
3 |
96,591,373 (GRCm39) |
missense |
probably benign |
|
|
FR4304:Ankrd35
|
UTSW |
3 |
96,591,163 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4342:Ankrd35
|
UTSW |
3 |
96,590,831 (GRCm39) |
frame shift |
probably null |
|
|
FR4737:Ankrd35
|
UTSW |
3 |
96,591,165 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0003:Ankrd35
|
UTSW |
3 |
96,591,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Ankrd35
|
UTSW |
3 |
96,591,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0551:Ankrd35
|
UTSW |
3 |
96,591,276 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1420:Ankrd35
|
UTSW |
3 |
96,592,054 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1455:Ankrd35
|
UTSW |
3 |
96,585,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2201:Ankrd35
|
UTSW |
3 |
96,586,564 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3522:Ankrd35
|
UTSW |
3 |
96,592,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3605:Ankrd35
|
UTSW |
3 |
96,589,497 (GRCm39) |
nonsense |
probably null |
|
|
R4166:Ankrd35
|
UTSW |
3 |
96,586,471 (GRCm39) |
splice site |
probably null |
|
|
R4651:Ankrd35
|
UTSW |
3 |
96,591,343 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4668:Ankrd35
|
UTSW |
3 |
96,586,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Ankrd35
|
UTSW |
3 |
96,591,438 (GRCm39) |
missense |
probably benign |
|
|
R4921:Ankrd35
|
UTSW |
3 |
96,592,140 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4953:Ankrd35
|
UTSW |
3 |
96,590,989 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5180:Ankrd35
|
UTSW |
3 |
96,587,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5583:Ankrd35
|
UTSW |
3 |
96,592,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5604:Ankrd35
|
UTSW |
3 |
96,592,215 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5613:Ankrd35
|
UTSW |
3 |
96,590,334 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6165:Ankrd35
|
UTSW |
3 |
96,590,623 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6413:Ankrd35
|
UTSW |
3 |
96,592,129 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6711:Ankrd35
|
UTSW |
3 |
96,590,784 (GRCm39) |
nonsense |
probably null |
|
|
R6834:Ankrd35
|
UTSW |
3 |
96,590,599 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6841:Ankrd35
|
UTSW |
3 |
96,577,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7028:Ankrd35
|
UTSW |
3 |
96,590,650 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7396:Ankrd35
|
UTSW |
3 |
96,590,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7425:Ankrd35
|
UTSW |
3 |
96,592,104 (GRCm39) |
missense |
not run |
|
|
R7815:Ankrd35
|
UTSW |
3 |
96,592,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7887:Ankrd35
|
UTSW |
3 |
96,592,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8103:Ankrd35
|
UTSW |
3 |
96,586,997 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8318:Ankrd35
|
UTSW |
3 |
96,592,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8492:Ankrd35
|
UTSW |
3 |
96,589,529 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8527:Ankrd35
|
UTSW |
3 |
96,589,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8542:Ankrd35
|
UTSW |
3 |
96,589,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8742:Ankrd35
|
UTSW |
3 |
96,586,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8963:Ankrd35
|
UTSW |
3 |
96,587,003 (GRCm39) |
nonsense |
probably null |
|
|
R9029:Ankrd35
|
UTSW |
3 |
96,591,460 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9229:Ankrd35
|
UTSW |
3 |
96,592,215 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9488:Ankrd35
|
UTSW |
3 |
96,589,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9669:Ankrd35
|
UTSW |
3 |
96,587,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9761:Ankrd35
|
UTSW |
3 |
96,591,733 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Z1177:Ankrd35
|
UTSW |
3 |
96,591,086 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2015-12-18 |
Incidental Mutation