Incidental Mutation 'R7887:Ankrd35'
ID |
609102 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd35
|
Ensembl Gene |
ENSMUSG00000038354 |
Gene Name |
ankyrin repeat domain 35 |
Synonyms |
4732436F15Rik |
MMRRC Submission |
045939-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7887 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
96577447-96598348 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 96592216 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 834
(T834M)
|
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: T834M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000047244 Gene: ENSMUSG00000038354 AA Change: T834M
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
98% (48/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alkbh8 |
T |
A |
9: 3,385,343 (GRCm39) |
I580N |
probably damaging |
Het |
Astn2 |
C |
T |
4: 65,563,103 (GRCm39) |
V893I |
possibly damaging |
Het |
B4galt1 |
A |
G |
4: 40,823,501 (GRCm39) |
Y197H |
probably benign |
Het |
Brdt |
T |
C |
5: 107,507,799 (GRCm39) |
S676P |
possibly damaging |
Het |
Chrdl2 |
T |
C |
7: 99,678,457 (GRCm39) |
V343A |
possibly damaging |
Het |
Clcn3 |
A |
T |
8: 61,394,433 (GRCm39) |
M59K |
probably benign |
Het |
Cpne4 |
A |
T |
9: 104,909,990 (GRCm39) |
N529I |
probably damaging |
Het |
Crcp |
G |
T |
5: 130,066,711 (GRCm39) |
K32N |
possibly damaging |
Het |
Ddx54 |
C |
T |
5: 120,765,268 (GRCm39) |
R846C |
probably damaging |
Het |
Dennd6a |
T |
C |
14: 26,320,812 (GRCm39) |
S118P |
possibly damaging |
Het |
Egr3 |
A |
G |
14: 70,316,651 (GRCm39) |
Y116C |
probably damaging |
Het |
Fbxw25 |
A |
G |
9: 109,478,662 (GRCm39) |
|
probably null |
Het |
Focad |
T |
G |
4: 88,100,853 (GRCm39) |
I313M |
probably damaging |
Het |
Gm10272 |
C |
T |
10: 77,542,779 (GRCm39) |
P107L |
probably benign |
Het |
Gpr26 |
A |
C |
7: 131,568,702 (GRCm39) |
I16L |
probably benign |
Het |
Gpr39 |
C |
A |
1: 125,605,279 (GRCm39) |
T69K |
probably damaging |
Het |
Hacl1 |
C |
T |
14: 31,356,184 (GRCm39) |
G97S |
probably damaging |
Het |
Idh3b |
A |
C |
2: 130,123,678 (GRCm39) |
D136E |
probably damaging |
Het |
Irf6 |
G |
A |
1: 192,850,040 (GRCm39) |
V321M |
probably damaging |
Het |
Klrg2 |
T |
A |
6: 38,613,506 (GRCm39) |
T166S |
probably damaging |
Het |
Lnx2 |
T |
C |
5: 146,955,853 (GRCm39) |
I648V |
probably damaging |
Het |
Mecr |
A |
G |
4: 131,588,177 (GRCm39) |
|
probably null |
Het |
Mnat1 |
T |
A |
12: 73,234,965 (GRCm39) |
S205T |
probably benign |
Het |
Mpnd |
G |
A |
17: 56,318,097 (GRCm39) |
G204D |
probably benign |
Het |
Myh7 |
C |
T |
14: 55,221,119 (GRCm39) |
E935K |
possibly damaging |
Het |
Nid1 |
G |
T |
13: 13,674,318 (GRCm39) |
R899L |
possibly damaging |
Het |
Nisch |
C |
T |
14: 30,898,652 (GRCm39) |
W664* |
probably null |
Het |
Nudt6 |
C |
T |
3: 37,466,529 (GRCm39) |
V157I |
possibly damaging |
Het |
Onecut2 |
T |
A |
18: 64,474,046 (GRCm39) |
M180K |
possibly damaging |
Het |
Or51h7 |
A |
C |
7: 102,591,358 (GRCm39) |
L142R |
possibly damaging |
Het |
Or5l13 |
T |
C |
2: 87,780,224 (GRCm39) |
M118V |
probably damaging |
Het |
Or8g31-ps1 |
A |
T |
9: 39,276,175 (GRCm39) |
M107L |
unknown |
Het |
Parg |
T |
A |
14: 31,939,619 (GRCm39) |
D548E |
possibly damaging |
Het |
Pclo |
GTCTAT |
GTCTATTCTAT |
5: 14,764,204 (GRCm39) |
|
probably null |
Het |
Phf11d |
A |
G |
14: 59,597,029 (GRCm39) |
Y57H |
probably damaging |
Het |
Prkaca |
T |
C |
8: 84,713,524 (GRCm39) |
V99A |
probably benign |
Het |
Rnf144b |
T |
A |
13: 47,393,287 (GRCm39) |
C209S |
probably damaging |
Het |
Scly |
G |
A |
1: 91,228,363 (GRCm39) |
|
probably null |
Het |
Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
Sphkap |
T |
C |
1: 83,255,133 (GRCm39) |
Y872C |
probably benign |
Het |
Ssh1 |
C |
T |
5: 114,099,410 (GRCm39) |
|
probably null |
Het |
Strap |
T |
G |
6: 137,716,807 (GRCm39) |
L129V |
possibly damaging |
Het |
Sympk |
T |
C |
7: 18,768,364 (GRCm39) |
I111T |
possibly damaging |
Het |
Tprn |
C |
A |
2: 25,154,024 (GRCm39) |
A442E |
probably damaging |
Het |
Tsen34 |
T |
C |
7: 3,697,707 (GRCm39) |
L36P |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,135,121 (GRCm39) |
F818L |
probably damaging |
Het |
Uggt1 |
T |
C |
1: 36,247,115 (GRCm39) |
Y294C |
probably damaging |
Het |
Usp20 |
A |
G |
2: 30,910,906 (GRCm39) |
K862E |
probably benign |
Het |
Vmn1r201 |
A |
T |
13: 22,658,956 (GRCm39) |
I57F |
probably damaging |
Het |
Wdr64 |
C |
T |
1: 175,613,111 (GRCm39) |
A662V |
not run |
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 |
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 |
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'- CCTCAAGGTTACAGCATCCC -3'
(R):5'- TTTCTCGAACTGCTCCGAGC -3'
Sequencing Primer
(F):5'- GTTACAGCATCCCCGCAAGTG -3'
(R):5'- GCATCTCGCCAGCCTGG -3'
|
Posted On |
2019-12-20 |