Incidental Mutation 'R6413:Ankrd35'
ID |
514802 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd35
|
Ensembl Gene |
ENSMUSG00000038354 |
Gene Name |
ankyrin repeat domain 35 |
Synonyms |
4732436F15Rik |
MMRRC Submission |
044555-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6413 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
96577447-96598348 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 96592129 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 805
(K805R)
|
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: K805R
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000047244 Gene: ENSMUSG00000038354 AA Change: K805R
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110070M22Rik |
C |
A |
13: 119,624,647 (GRCm39) |
|
probably benign |
Het |
Agtpbp1 |
A |
G |
13: 59,647,834 (GRCm39) |
V662A |
possibly damaging |
Het |
Ambra1 |
T |
G |
2: 91,599,429 (GRCm39) |
V183G |
possibly damaging |
Het |
Amdhd2 |
A |
G |
17: 24,377,290 (GRCm39) |
S208P |
probably damaging |
Het |
Ankdd1a |
C |
T |
9: 65,417,654 (GRCm39) |
V133I |
probably benign |
Het |
Arhgap28 |
T |
C |
17: 68,182,583 (GRCm39) |
Q270R |
probably benign |
Het |
Cabp2 |
G |
A |
19: 4,135,698 (GRCm39) |
|
probably null |
Het |
Ccnt1 |
A |
G |
15: 98,441,850 (GRCm39) |
S473P |
probably benign |
Het |
Cenpt |
G |
A |
8: 106,572,973 (GRCm39) |
P373S |
possibly damaging |
Het |
Cyp3a44 |
T |
A |
5: 145,731,254 (GRCm39) |
D182V |
probably damaging |
Het |
Ddx54 |
A |
G |
5: 120,765,127 (GRCm39) |
T799A |
probably benign |
Het |
Dtna |
T |
A |
18: 23,755,071 (GRCm39) |
D464E |
probably damaging |
Het |
E030025P04Rik |
T |
C |
11: 109,030,425 (GRCm39) |
Y154C |
unknown |
Het |
Ephb2 |
C |
A |
4: 136,498,433 (GRCm39) |
E215D |
probably benign |
Het |
Eya4 |
T |
C |
10: 22,992,724 (GRCm39) |
D445G |
probably damaging |
Het |
Flg2 |
A |
T |
3: 93,127,683 (GRCm39) |
L2198F |
unknown |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Klhl22 |
T |
C |
16: 17,607,181 (GRCm39) |
F496L |
probably benign |
Het |
Numa1 |
A |
T |
7: 101,639,778 (GRCm39) |
|
probably null |
Het |
Papola |
T |
C |
12: 105,772,763 (GRCm39) |
|
probably benign |
Het |
Phldb1 |
T |
C |
9: 44,607,440 (GRCm39) |
E1255G |
probably damaging |
Het |
Rgs8 |
A |
T |
1: 153,568,619 (GRCm39) |
D168V |
probably damaging |
Het |
Rlf |
A |
G |
4: 121,004,522 (GRCm39) |
V1486A |
probably damaging |
Het |
Rpa2 |
G |
T |
4: 132,501,156 (GRCm39) |
A118S |
probably benign |
Het |
Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
Serpina1f |
T |
A |
12: 103,659,953 (GRCm39) |
I110F |
probably damaging |
Het |
Serpini2 |
T |
C |
3: 75,166,921 (GRCm39) |
Y112C |
probably damaging |
Het |
Sh2b3 |
A |
G |
5: 121,966,986 (GRCm39) |
Y43H |
probably damaging |
Het |
Shank2 |
A |
G |
7: 143,963,955 (GRCm39) |
E514G |
probably damaging |
Het |
Slc44a5 |
T |
C |
3: 153,963,387 (GRCm39) |
F388S |
probably benign |
Het |
Spmip6 |
A |
T |
4: 41,505,135 (GRCm39) |
V196D |
possibly damaging |
Het |
Tmem176b |
T |
C |
6: 48,815,266 (GRCm39) |
N9S |
possibly damaging |
Het |
Trip11 |
T |
A |
12: 101,851,790 (GRCm39) |
Q758L |
probably benign |
Het |
Trrap |
T |
A |
5: 144,720,856 (GRCm39) |
I231N |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,730,397 (GRCm39) |
|
probably benign |
Het |
Vmn2r68 |
T |
C |
7: 84,870,973 (GRCm39) |
N770S |
probably damaging |
Het |
Vmn2r73 |
A |
T |
7: 85,519,544 (GRCm39) |
Y471* |
probably null |
Het |
Vmn2r8 |
T |
G |
5: 108,949,589 (GRCm39) |
E419D |
probably benign |
Het |
Wdfy4 |
C |
A |
14: 32,689,604 (GRCm39) |
L2818F |
probably damaging |
Het |
Zfhx4 |
A |
T |
3: 5,308,205 (GRCm39) |
Y477F |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGGCACCTTGAGGCTCAAC -3'
(R):5'- TGTCCCGCAATCGAGTCATTTC -3'
Sequencing Primer
(F):5'- ACCTTGAGGCTCAACGGGTG -3'
(R):5'- ATCGAGTCATTTCCCGACAGG -3'
|
Posted On |
2018-05-04 |