Incidental Mutation 'IGL03105:Ankrd35'
ID |
418937 |
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 # |
IGL03105
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
96577447-96598348 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 96591373 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 553
(H553R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047244
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048427]
[ENSMUST00000122960]
|
AlphaFold |
E9Q9D8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048427
AA Change: H553R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000047244 Gene: ENSMUSG00000038354 AA Change: H553R
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adss1 |
A |
G |
12: 112,599,155 (GRCm39) |
I129V |
probably benign |
Het |
Brca2 |
A |
G |
5: 150,483,950 (GRCm39) |
K2923R |
probably benign |
Het |
Cadm3 |
A |
T |
1: 173,172,583 (GRCm39) |
L174M |
probably damaging |
Het |
Car10 |
T |
C |
11: 92,991,101 (GRCm39) |
V17A |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,387,686 (GRCm39) |
K1956E |
possibly damaging |
Het |
Cfhr1 |
T |
A |
1: 139,475,565 (GRCm39) |
|
probably benign |
Het |
Crim1 |
A |
T |
17: 78,623,179 (GRCm39) |
|
probably benign |
Het |
Dedd |
G |
A |
1: 171,168,486 (GRCm39) |
R224H |
probably damaging |
Het |
F7 |
A |
T |
8: 13,084,001 (GRCm39) |
I229L |
probably null |
Het |
Igkv17-121 |
A |
T |
6: 68,014,284 (GRCm39) |
Q112L |
probably damaging |
Het |
Kcnk13 |
G |
A |
12: 100,027,369 (GRCm39) |
R148Q |
probably damaging |
Het |
Klk13 |
T |
C |
7: 43,370,904 (GRCm39) |
L51P |
probably benign |
Het |
Ldb2 |
A |
G |
5: 44,956,715 (GRCm39) |
S41P |
possibly damaging |
Het |
Magi2 |
A |
G |
5: 20,748,616 (GRCm39) |
D767G |
probably damaging |
Het |
Mical3 |
T |
C |
6: 121,019,199 (GRCm39) |
T8A |
probably benign |
Het |
Mkln1 |
G |
T |
6: 31,435,994 (GRCm39) |
E318* |
probably null |
Het |
Mx1 |
C |
T |
16: 97,257,554 (GRCm39) |
V68I |
possibly damaging |
Het |
Mylk2 |
T |
C |
2: 152,759,279 (GRCm39) |
V350A |
possibly damaging |
Het |
Nav2 |
T |
A |
7: 49,114,627 (GRCm39) |
S870R |
probably damaging |
Het |
Onecut2 |
A |
T |
18: 64,474,579 (GRCm39) |
K358* |
probably null |
Het |
Or51b4 |
A |
G |
7: 103,531,339 (GRCm39) |
I37T |
possibly damaging |
Het |
Or52n2c |
A |
T |
7: 104,574,971 (GRCm39) |
|
probably benign |
Het |
Or7a40 |
T |
C |
16: 16,491,390 (GRCm39) |
T152A |
probably benign |
Het |
Or7g16 |
T |
C |
9: 18,726,685 (GRCm39) |
R302G |
probably benign |
Het |
Orai3 |
A |
G |
7: 127,372,725 (GRCm39) |
|
probably benign |
Het |
Rad54b |
A |
G |
4: 11,615,569 (GRCm39) |
N859S |
probably benign |
Het |
Saxo4 |
A |
G |
19: 10,454,384 (GRCm39) |
|
probably benign |
Het |
Sec23b |
C |
T |
2: 144,423,940 (GRCm39) |
R530W |
probably damaging |
Het |
Slc25a35 |
T |
C |
11: 68,859,496 (GRCm39) |
F3S |
probably damaging |
Het |
Slc7a11 |
A |
T |
3: 50,326,788 (GRCm39) |
I491K |
possibly damaging |
Het |
Srrt |
A |
T |
5: 137,298,106 (GRCm39) |
N317K |
possibly damaging |
Het |
Sspo |
T |
C |
6: 48,450,592 (GRCm39) |
|
probably benign |
Het |
Taf2 |
A |
C |
15: 54,909,195 (GRCm39) |
D683E |
probably benign |
Het |
Tasor |
T |
A |
14: 27,164,509 (GRCm39) |
C272S |
probably damaging |
Het |
Tcerg1l |
G |
T |
7: 137,850,173 (GRCm39) |
|
probably benign |
Het |
Tg |
G |
T |
15: 66,586,955 (GRCm39) |
V1578F |
probably benign |
Het |
Tmem43 |
G |
A |
6: 91,457,682 (GRCm39) |
G188D |
probably damaging |
Het |
Tnfrsf8 |
T |
C |
4: 145,025,354 (GRCm39) |
Y73C |
probably damaging |
Het |
Ttc21a |
A |
G |
9: 119,771,642 (GRCm39) |
Y147C |
probably benign |
Het |
Ttn |
T |
C |
2: 76,608,394 (GRCm39) |
D17843G |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,642,521 (GRCm39) |
D11592V |
probably damaging |
Het |
Tubgcp5 |
T |
A |
7: 55,475,329 (GRCm39) |
I842N |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,511,258 (GRCm39) |
T89S |
probably damaging |
Het |
Usp28 |
T |
C |
9: 48,950,355 (GRCm39) |
M928T |
probably damaging |
Het |
Usp43 |
A |
G |
11: 67,770,802 (GRCm39) |
S611P |
possibly damaging |
Het |
Utp20 |
A |
G |
10: 88,626,958 (GRCm39) |
V1000A |
probably benign |
Het |
Zfp263 |
T |
C |
16: 3,566,824 (GRCm39) |
C380R |
probably damaging |
Het |
Zfyve1 |
A |
C |
12: 83,605,413 (GRCm39) |
C14G |
probably damaging |
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 |
|
IGL03083:Ankrd35
|
APN |
3 |
96,592,117 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |