Incidental Mutation 'R5180:Ankrd35'
ID |
470621 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd35
|
Ensembl Gene |
ENSMUSG00000038354 |
Gene Name |
ankyrin repeat domain 35 |
Synonyms |
4732436F15Rik |
MMRRC Submission |
042760-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5180 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
96577447-96598348 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 96587789 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 109
(H109Q)
|
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: H109Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000047244 Gene: ENSMUSG00000038354 AA Change: H109Q
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
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
97% (60/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,416,510 (GRCm39) |
T4091A |
probably benign |
Het |
Adgrv1 |
G |
A |
13: 81,431,535 (GRCm39) |
|
probably benign |
Het |
Ago3 |
C |
T |
4: 126,261,544 (GRCm39) |
V435I |
probably benign |
Het |
Akap10 |
C |
T |
11: 61,807,015 (GRCm39) |
A72T |
probably damaging |
Het |
Ampd2 |
G |
T |
3: 107,986,358 (GRCm39) |
Q273K |
probably benign |
Het |
Atpaf2 |
A |
G |
11: 60,296,695 (GRCm39) |
L153S |
possibly damaging |
Het |
C1qtnf7 |
G |
A |
5: 43,773,156 (GRCm39) |
V152M |
probably benign |
Het |
Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
Cep295 |
C |
T |
9: 15,243,416 (GRCm39) |
C1680Y |
probably benign |
Het |
Cyp4f15 |
A |
T |
17: 32,909,714 (GRCm39) |
I104F |
probably benign |
Het |
Daam1 |
A |
G |
12: 71,993,899 (GRCm39) |
N434S |
unknown |
Het |
Dab2ip |
C |
T |
2: 35,610,503 (GRCm39) |
P782L |
possibly damaging |
Het |
Dhx34 |
C |
A |
7: 15,939,405 (GRCm39) |
G663* |
probably null |
Het |
Dnah7a |
T |
C |
1: 53,462,446 (GRCm39) |
D3715G |
probably damaging |
Het |
Dnajc11 |
C |
T |
4: 152,054,396 (GRCm39) |
R201C |
probably damaging |
Het |
Erf |
A |
T |
7: 24,945,690 (GRCm39) |
I27N |
probably damaging |
Het |
Fbxl7 |
T |
A |
15: 26,543,507 (GRCm39) |
Y380F |
probably damaging |
Het |
Gm3336 |
A |
G |
8: 71,173,110 (GRCm39) |
|
probably benign |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gm5134 |
T |
C |
10: 75,812,200 (GRCm39) |
Y152H |
probably damaging |
Het |
Gm6899 |
A |
G |
11: 26,543,795 (GRCm39) |
|
probably benign |
Het |
Gna11 |
T |
C |
10: 81,380,707 (GRCm39) |
K19E |
probably benign |
Het |
Gpr15 |
C |
A |
16: 58,538,248 (GRCm39) |
L280F |
probably benign |
Het |
Grhl3 |
T |
A |
4: 135,286,415 (GRCm39) |
K89* |
probably null |
Het |
Ino80d |
C |
A |
1: 63,125,488 (GRCm39) |
|
probably benign |
Het |
Irak3 |
T |
G |
10: 119,981,687 (GRCm39) |
K406T |
probably damaging |
Het |
Kif15 |
G |
A |
9: 122,828,275 (GRCm39) |
C634Y |
probably damaging |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Macrod2 |
A |
T |
2: 140,237,636 (GRCm39) |
E14V |
probably damaging |
Het |
Matn3 |
T |
A |
12: 9,005,374 (GRCm39) |
D261E |
probably benign |
Het |
Mdga1 |
A |
T |
17: 30,076,710 (GRCm39) |
|
probably benign |
Het |
Natd1 |
G |
T |
11: 60,804,482 (GRCm39) |
R24S |
probably benign |
Het |
Ncapd3 |
T |
A |
9: 26,962,941 (GRCm39) |
D415E |
possibly damaging |
Het |
Or5b101 |
A |
T |
19: 13,004,776 (GRCm39) |
S306T |
probably benign |
Het |
Parp9 |
T |
A |
16: 35,774,106 (GRCm39) |
Y81* |
probably null |
Het |
Pde4d |
A |
G |
13: 109,877,007 (GRCm39) |
N73S |
probably benign |
Het |
Pigb |
A |
T |
9: 72,941,872 (GRCm39) |
I129N |
probably damaging |
Het |
Plxnb1 |
C |
A |
9: 108,940,761 (GRCm39) |
|
probably null |
Het |
Ppfibp1 |
G |
T |
6: 146,928,819 (GRCm39) |
R813L |
probably damaging |
Het |
Ramp3 |
T |
A |
11: 6,608,619 (GRCm39) |
L16Q |
unknown |
Het |
Slc35a4 |
T |
C |
18: 36,815,688 (GRCm39) |
S173P |
probably benign |
Het |
Slc41a1 |
T |
C |
1: 131,772,115 (GRCm39) |
V415A |
probably damaging |
Het |
Smarcc2 |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
10: 128,323,231 (GRCm39) |
|
probably benign |
Het |
Snph |
G |
A |
2: 151,442,307 (GRCm39) |
R43W |
probably benign |
Het |
Sptan1 |
A |
T |
2: 29,883,736 (GRCm39) |
|
probably benign |
Het |
Supt20 |
C |
A |
3: 54,616,506 (GRCm39) |
H254Q |
probably benign |
Het |
Taar7a |
A |
G |
10: 23,869,046 (GRCm39) |
C112R |
probably damaging |
Het |
Tbc1d4 |
T |
C |
14: 101,745,008 (GRCm39) |
Y206C |
probably damaging |
Het |
Tecta |
A |
G |
9: 42,248,504 (GRCm39) |
V1961A |
probably damaging |
Het |
Tgfbr1 |
T |
A |
4: 47,383,948 (GRCm39) |
Y30* |
probably null |
Het |
Tmem71 |
C |
T |
15: 66,427,063 (GRCm39) |
S44N |
probably benign |
Het |
Tnfrsf1b |
C |
A |
4: 144,954,067 (GRCm39) |
C94F |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,579,740 (GRCm39) |
Y23718H |
probably damaging |
Het |
Ube2i |
T |
C |
17: 25,484,268 (GRCm39) |
|
probably benign |
Het |
Vmn2r16 |
G |
T |
5: 109,478,391 (GRCm39) |
V49F |
probably benign |
Het |
Vps45 |
A |
G |
3: 95,953,683 (GRCm39) |
I223T |
possibly damaging |
Het |
Zfp955a |
T |
C |
17: 33,461,592 (GRCm39) |
Y180C |
probably benign |
Het |
Zhx1 |
C |
G |
15: 57,917,470 (GRCm39) |
G259R |
probably damaging |
Het |
Zscan18 |
T |
A |
7: 12,509,216 (GRCm39) |
|
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTCCTGGTCTTTTCCAAAGG -3'
(R):5'- ACACAGCAGGAGGACACTTG -3'
Sequencing Primer
(F):5'- TTTCCAAAGGCCCTAGTTAGG -3'
(R):5'- GGACACTTGAGGCGCAG -3'
|
Posted On |
2017-03-29 |