Incidental Mutation 'R5613:Ankrd35'
ID |
438071 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd35
|
Ensembl Gene |
ENSMUSG00000038354 |
Gene Name |
ankyrin repeat domain 35 |
Synonyms |
4732436F15Rik |
MMRRC Submission |
043274-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5613 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
96577447-96598348 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 96590334 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 257
(D257G)
|
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: D257G
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000047244 Gene: ENSMUSG00000038354 AA Change: D257G
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 |
0.1151 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.9%
- 20x: 97.0%
|
Validation Efficiency |
98% (59/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9430097D07Rik |
T |
C |
2: 32,465,346 (GRCm39) |
|
probably benign |
Het |
Adamts16 |
A |
C |
13: 70,878,253 (GRCm39) |
S1171A |
probably benign |
Het |
Agtr1b |
T |
C |
3: 20,370,424 (GRCm39) |
T61A |
probably damaging |
Het |
Arhgef5 |
A |
G |
6: 43,250,997 (GRCm39) |
T583A |
probably benign |
Het |
Camk2g |
T |
C |
14: 20,787,559 (GRCm39) |
N423S |
probably damaging |
Het |
Cand1 |
A |
T |
10: 119,051,228 (GRCm39) |
H293Q |
possibly damaging |
Het |
Chd4 |
A |
C |
6: 125,097,509 (GRCm39) |
E1359D |
probably damaging |
Het |
Creb3 |
T |
C |
4: 43,566,196 (GRCm39) |
C264R |
probably benign |
Het |
Cul9 |
T |
C |
17: 46,814,770 (GRCm39) |
D2171G |
probably damaging |
Het |
Cyp7a1 |
A |
T |
4: 6,272,799 (GRCm39) |
L138Q |
probably damaging |
Het |
Dclk1 |
A |
G |
3: 55,424,360 (GRCm39) |
T380A |
probably benign |
Het |
Dnm2 |
T |
A |
9: 21,383,963 (GRCm39) |
I248N |
probably damaging |
Het |
Dtx4 |
A |
T |
19: 12,462,767 (GRCm39) |
S337R |
probably damaging |
Het |
Dus3l |
T |
C |
17: 57,074,882 (GRCm39) |
S335P |
possibly damaging |
Het |
Dync1h1 |
T |
C |
12: 110,599,254 (GRCm39) |
Y1870H |
possibly damaging |
Het |
Eral1 |
G |
A |
11: 77,965,230 (GRCm39) |
|
probably benign |
Het |
Eya1 |
G |
T |
1: 14,373,153 (GRCm39) |
|
probably benign |
Het |
Fbxw28 |
T |
A |
9: 109,167,601 (GRCm39) |
Y52F |
probably benign |
Het |
Fcgbpl1 |
A |
T |
7: 27,842,303 (GRCm39) |
|
probably benign |
Het |
Gm5600 |
A |
G |
7: 113,307,293 (GRCm39) |
|
noncoding transcript |
Het |
Gm5901 |
A |
G |
7: 105,026,532 (GRCm39) |
Y100C |
probably damaging |
Het |
Haus3 |
A |
G |
5: 34,325,173 (GRCm39) |
L162P |
probably damaging |
Het |
Hivep2 |
T |
C |
10: 14,015,239 (GRCm39) |
I1802T |
probably damaging |
Het |
Klf7 |
G |
A |
1: 64,081,555 (GRCm39) |
R258C |
probably damaging |
Het |
Mapt |
A |
G |
11: 104,193,216 (GRCm39) |
N66D |
possibly damaging |
Het |
Mypop |
G |
A |
7: 18,725,901 (GRCm39) |
|
probably benign |
Het |
Nefm |
T |
A |
14: 68,358,583 (GRCm39) |
K484* |
probably null |
Het |
Nup153 |
A |
C |
13: 46,840,747 (GRCm39) |
S954A |
possibly damaging |
Het |
Or13c7 |
G |
A |
4: 43,854,528 (GRCm39) |
C73Y |
probably damaging |
Het |
Or4a78 |
T |
C |
2: 89,497,388 (GRCm39) |
N281D |
probably damaging |
Het |
Pkn1 |
C |
T |
8: 84,404,390 (GRCm39) |
A543T |
probably benign |
Het |
Ppp1r11 |
C |
A |
17: 37,262,380 (GRCm39) |
G7W |
probably damaging |
Het |
Prss52 |
A |
T |
14: 64,346,951 (GRCm39) |
N42Y |
possibly damaging |
Het |
Ptger2 |
T |
G |
14: 45,226,960 (GRCm39) |
V180G |
possibly damaging |
Het |
Rep15 |
G |
T |
6: 146,934,352 (GRCm39) |
V64F |
possibly damaging |
Het |
Rfpl4b |
T |
A |
10: 38,697,373 (GRCm39) |
Q76L |
probably benign |
Het |
Slc11a1 |
G |
A |
1: 74,420,065 (GRCm39) |
G191D |
probably damaging |
Het |
Slc16a12 |
T |
C |
19: 34,652,358 (GRCm39) |
M263V |
probably benign |
Het |
Spdye4c |
A |
T |
2: 128,434,889 (GRCm39) |
Q95L |
possibly damaging |
Het |
Srfbp1 |
G |
A |
18: 52,616,717 (GRCm39) |
D81N |
probably damaging |
Het |
Sspo |
G |
A |
6: 48,431,978 (GRCm39) |
V731M |
possibly damaging |
Het |
Susd6 |
G |
T |
12: 80,915,308 (GRCm39) |
G98C |
probably damaging |
Het |
Tlr4 |
T |
A |
4: 66,759,122 (GRCm39) |
S638R |
possibly damaging |
Het |
Tnfsf13 |
G |
T |
11: 69,574,821 (GRCm39) |
|
probably null |
Het |
Tnfsf18 |
A |
G |
1: 161,331,297 (GRCm39) |
N149S |
possibly damaging |
Het |
Tor1aip1 |
T |
C |
1: 155,909,499 (GRCm39) |
K176E |
probably damaging |
Het |
Trav10 |
A |
T |
14: 53,743,483 (GRCm39) |
H28L |
probably benign |
Het |
Trim30a |
T |
A |
7: 104,079,389 (GRCm39) |
K155N |
probably damaging |
Het |
Trpm1 |
A |
G |
7: 63,858,159 (GRCm39) |
D333G |
probably damaging |
Het |
Tssk1 |
T |
C |
16: 17,712,364 (GRCm39) |
S50P |
probably benign |
Het |
Ttll9 |
CAAA |
CAA |
2: 152,815,521 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,739,996 (GRCm39) |
|
probably benign |
Het |
Vmn2r115 |
A |
T |
17: 23,564,307 (GRCm39) |
I160L |
probably benign |
Het |
Wdr95 |
A |
T |
5: 149,507,935 (GRCm39) |
D396V |
probably damaging |
Het |
Zbtb47 |
T |
A |
9: 121,596,585 (GRCm39) |
I647N |
probably damaging |
Het |
Zfp799 |
T |
C |
17: 33,038,964 (GRCm39) |
Y433C |
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 |
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'- CACAGTGATCAGTAACAGAGGC -3'
(R):5'- CACTTTCCGTGAGTTCTTAGGAG -3'
Sequencing Primer
(F):5'- TCAGTAACAGAGGCTAGTGAAC -3'
(R):5'- CCCGAGGCTCACATGAAGAG -3'
|
Posted On |
2016-10-26 |