Incidental Mutation 'IGL03083:Ankrd35'
| ID |
417968 |
| 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 # |
IGL03083
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
96577447-96598348 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 96592117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 801
(Q801L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047244
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048427]
[ENSMUST00000122960]
|
| AlphaFold |
E9Q9D8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048427
AA Change: Q801L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047244
Gene: ENSMUSG00000038354
AA Change: Q801L
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130429
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,932,261 (GRCm39) |
|
probably null |
Het |
| Acadsb |
A |
C |
7: 131,042,922 (GRCm39) |
|
probably benign |
Het |
| Ankk1 |
A |
G |
9: 49,333,166 (GRCm39) |
L106P |
probably benign |
Het |
| Ankrd24 |
G |
A |
10: 81,474,483 (GRCm39) |
A72T |
probably benign |
Het |
| Avil |
A |
G |
10: 126,852,193 (GRCm39) |
I659M |
probably benign |
Het |
| Ccnc |
A |
G |
4: 21,742,683 (GRCm39) |
D170G |
possibly damaging |
Het |
| Cfap57 |
T |
C |
4: 118,441,936 (GRCm39) |
K711E |
probably damaging |
Het |
| Dctn1 |
T |
C |
6: 83,174,466 (GRCm39) |
|
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,914,548 (GRCm39) |
|
probably null |
Het |
| Efhb |
A |
T |
17: 53,706,087 (GRCm39) |
W817R |
probably damaging |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Fer1l4 |
A |
G |
2: 155,881,286 (GRCm39) |
|
probably benign |
Het |
| Fgf8 |
T |
C |
19: 45,725,667 (GRCm39) |
N137S |
probably damaging |
Het |
| Fndc3b |
T |
C |
3: 27,521,576 (GRCm39) |
D533G |
probably benign |
Het |
| Fshb |
A |
G |
2: 106,887,812 (GRCm39) |
V69A |
probably benign |
Het |
| Galnt7 |
A |
T |
8: 57,979,223 (GRCm39) |
H633Q |
probably damaging |
Het |
| Gm5458 |
A |
G |
14: 19,652,451 (GRCm39) |
|
probably null |
Het |
| Hjv |
T |
A |
3: 96,435,922 (GRCm39) |
D393E |
probably benign |
Het |
| Hpca |
A |
C |
4: 129,012,319 (GRCm39) |
F72L |
probably damaging |
Het |
| Inpp5d |
A |
T |
1: 87,638,863 (GRCm39) |
D552V |
probably damaging |
Het |
| Lepr |
C |
T |
4: 101,671,876 (GRCm39) |
Q967* |
probably null |
Het |
| Lgr5 |
A |
G |
10: 115,288,937 (GRCm39) |
V497A |
probably benign |
Het |
| Matr3 |
A |
G |
18: 35,705,471 (GRCm39) |
K132R |
probably damaging |
Het |
| Mib1 |
T |
G |
18: 10,752,029 (GRCm39) |
|
probably null |
Het |
| Mios |
T |
A |
6: 8,215,156 (GRCm39) |
N117K |
probably damaging |
Het |
| Nab1 |
T |
C |
1: 52,529,429 (GRCm39) |
D156G |
probably benign |
Het |
| Nfxl1 |
C |
T |
5: 72,698,005 (GRCm39) |
|
probably benign |
Het |
| Nutm2 |
G |
A |
13: 50,621,480 (GRCm39) |
G15E |
probably damaging |
Het |
| Oca2 |
A |
G |
7: 55,945,232 (GRCm39) |
H280R |
probably benign |
Het |
| Or10al2 |
C |
A |
17: 37,983,551 (GRCm39) |
C212* |
probably null |
Het |
| Or4d1 |
T |
C |
11: 87,804,914 (GRCm39) |
I273V |
probably benign |
Het |
| P2ry1 |
A |
G |
3: 60,911,736 (GRCm39) |
T292A |
probably benign |
Het |
| Pcna |
C |
T |
2: 132,093,673 (GRCm39) |
E109K |
probably benign |
Het |
| Pidd1 |
A |
G |
7: 141,020,369 (GRCm39) |
|
probably null |
Het |
| Pitpnm2 |
T |
C |
5: 124,271,445 (GRCm39) |
E376G |
possibly damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,635,872 (GRCm39) |
|
probably null |
Het |
| Sbno2 |
A |
T |
10: 79,893,368 (GRCm39) |
M1311K |
probably damaging |
Het |
| Senp7 |
A |
G |
16: 55,992,228 (GRCm39) |
N701S |
probably benign |
Het |
| Sirpa |
T |
A |
2: 129,471,848 (GRCm39) |
I211N |
probably damaging |
Het |
| Slc9a4 |
A |
G |
1: 40,668,562 (GRCm39) |
E735G |
probably benign |
Het |
| Sorbs1 |
C |
T |
19: 40,302,820 (GRCm39) |
M790I |
probably damaging |
Het |
| Sult1e1 |
T |
A |
5: 87,737,983 (GRCm39) |
M33L |
probably benign |
Het |
| Tapbpl |
G |
A |
6: 125,205,191 (GRCm39) |
|
probably null |
Het |
| Top1 |
A |
G |
2: 160,545,498 (GRCm39) |
T289A |
probably damaging |
Het |
| Trim58 |
T |
A |
11: 58,542,216 (GRCm39) |
M392K |
probably benign |
Het |
| Uaca |
A |
G |
9: 60,770,945 (GRCm39) |
I371V |
probably benign |
Het |
| Vmn1r54 |
T |
C |
6: 90,246,854 (GRCm39) |
I256T |
possibly damaging |
Het |
| Wdr19 |
T |
C |
5: 65,388,319 (GRCm39) |
I668T |
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 |
|
|
IGL02819:Ankrd35
|
APN |
3 |
96,597,524 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02994:Ankrd35
|
APN |
3 |
96,590,307 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation