Incidental Mutation 'IGL01335:Ankrd28'
ID |
74597 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ankrd28
|
Ensembl Gene |
ENSMUSG00000014496 |
Gene Name |
ankyrin repeat domain 28 |
Synonyms |
E430019N21Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.284)
|
Stock # |
IGL01335
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
31420725-31552608 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 31423981 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 1083
(Y1083C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153992
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014640]
[ENSMUST00000227089]
[ENSMUST00000227863]
|
AlphaFold |
Q505D1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000014640
AA Change: Y1053C
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000014640 Gene: ENSMUSG00000014496 AA Change: Y1053C
Domain | Start | End | E-Value | Type |
ANK
|
7 |
36 |
5.69e2 |
SMART |
ANK
|
40 |
69 |
2.45e-4 |
SMART |
ANK
|
73 |
102 |
1.59e-3 |
SMART |
ANK
|
106 |
135 |
1.09e-1 |
SMART |
ANK
|
139 |
168 |
1.58e-7 |
SMART |
ANK
|
172 |
201 |
4.97e-5 |
SMART |
ANK
|
205 |
234 |
1.01e-5 |
SMART |
ANK
|
238 |
267 |
2.74e-7 |
SMART |
ANK
|
271 |
301 |
4.13e-2 |
SMART |
ANK
|
305 |
334 |
3.8e-1 |
SMART |
ANK
|
338 |
367 |
3.06e-5 |
SMART |
ANK
|
371 |
400 |
1.44e-1 |
SMART |
ANK
|
404 |
433 |
6.76e-7 |
SMART |
ANK
|
437 |
466 |
1.73e-4 |
SMART |
ANK
|
470 |
500 |
7.83e-3 |
SMART |
ANK
|
504 |
534 |
2.99e1 |
SMART |
ANK
|
549 |
578 |
1.34e-1 |
SMART |
ANK
|
582 |
611 |
3.76e-5 |
SMART |
ANK
|
616 |
645 |
4.13e-2 |
SMART |
ANK
|
652 |
681 |
1.24e-5 |
SMART |
ANK
|
685 |
714 |
4.5e-3 |
SMART |
ANK
|
718 |
747 |
1.93e-2 |
SMART |
ANK
|
755 |
784 |
2.85e-5 |
SMART |
ANK
|
787 |
818 |
2.15e0 |
SMART |
ANK
|
822 |
851 |
2.16e-5 |
SMART |
ANK
|
855 |
885 |
4.5e-3 |
SMART |
ANK
|
889 |
918 |
6.61e-1 |
SMART |
ANK
|
925 |
954 |
3.85e-2 |
SMART |
low complexity region
|
982 |
995 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227089
AA Change: Y899C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227613
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227863
AA Change: Y1083C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
T |
A |
2: 152,284,307 (GRCm39) |
M300K |
possibly damaging |
Het |
Adamts14 |
T |
A |
10: 61,034,460 (GRCm39) |
R1143W |
possibly damaging |
Het |
Anxa8 |
T |
C |
14: 33,811,547 (GRCm39) |
M34T |
probably damaging |
Het |
Aox1 |
G |
T |
1: 58,121,312 (GRCm39) |
E928* |
probably null |
Het |
Atp8b5 |
T |
A |
4: 43,302,628 (GRCm39) |
F50L |
possibly damaging |
Het |
Brpf1 |
A |
G |
6: 113,296,298 (GRCm39) |
S863G |
probably damaging |
Het |
Cdc42bpb |
A |
G |
12: 111,260,530 (GRCm39) |
|
probably benign |
Het |
Cdh6 |
C |
T |
15: 13,051,395 (GRCm39) |
A413T |
probably benign |
Het |
Cfap96 |
A |
T |
8: 46,426,642 (GRCm39) |
|
probably benign |
Het |
Cfap97 |
A |
G |
8: 46,623,492 (GRCm39) |
Q294R |
probably damaging |
Het |
Cit |
C |
T |
5: 116,046,889 (GRCm39) |
|
probably benign |
Het |
Dmbt1 |
A |
G |
7: 130,690,497 (GRCm39) |
Y736C |
possibly damaging |
Het |
Eno2 |
C |
T |
6: 124,743,618 (GRCm39) |
G107E |
probably damaging |
Het |
Gja8 |
T |
C |
3: 96,826,558 (GRCm39) |
Q368R |
probably benign |
Het |
Gm3633 |
T |
A |
14: 42,462,595 (GRCm39) |
|
probably benign |
Het |
Gm4987 |
A |
T |
X: 45,544,755 (GRCm39) |
|
noncoding transcript |
Het |
Gna13 |
G |
A |
11: 109,256,569 (GRCm39) |
R164Q |
probably damaging |
Het |
Grhl1 |
A |
T |
12: 24,658,057 (GRCm39) |
E351D |
probably damaging |
Het |
Idua |
A |
G |
5: 108,828,737 (GRCm39) |
Q280R |
probably benign |
Het |
Igsf5 |
T |
A |
16: 96,174,353 (GRCm39) |
|
probably benign |
Het |
Mrpl52 |
T |
C |
14: 54,664,656 (GRCm39) |
Y39H |
probably damaging |
Het |
Naa16 |
A |
T |
14: 79,582,556 (GRCm39) |
|
probably benign |
Het |
Naa35 |
T |
A |
13: 59,764,610 (GRCm39) |
L338Q |
probably damaging |
Het |
Nat8l |
A |
T |
5: 34,155,791 (GRCm39) |
Y149F |
probably benign |
Het |
Nck1 |
A |
T |
9: 100,379,790 (GRCm39) |
W154R |
probably damaging |
Het |
Ncoa1 |
A |
T |
12: 4,347,520 (GRCm39) |
S351R |
probably benign |
Het |
Or10w1 |
A |
T |
19: 13,632,540 (GRCm39) |
H249L |
probably damaging |
Het |
Or12e10 |
A |
T |
2: 87,640,790 (GRCm39) |
T209S |
probably damaging |
Het |
Or6c8b |
T |
C |
10: 128,882,380 (GRCm39) |
K184R |
probably benign |
Het |
Or8k1 |
A |
T |
2: 86,047,916 (GRCm39) |
L46Q |
probably damaging |
Het |
Pacs1 |
A |
T |
19: 5,192,660 (GRCm39) |
V624E |
probably damaging |
Het |
Pde6b |
G |
A |
5: 108,571,379 (GRCm39) |
R444H |
probably benign |
Het |
Pigk |
A |
T |
3: 152,448,173 (GRCm39) |
T226S |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,634,760 (GRCm39) |
|
probably null |
Het |
Ptbp1 |
G |
A |
10: 79,698,708 (GRCm39) |
|
probably null |
Het |
Pyroxd1 |
T |
C |
6: 142,307,484 (GRCm39) |
V418A |
probably damaging |
Het |
Rhot1 |
A |
T |
11: 80,141,055 (GRCm39) |
D421V |
probably damaging |
Het |
Rimkla |
T |
C |
4: 119,335,156 (GRCm39) |
T76A |
possibly damaging |
Het |
Rtn1 |
A |
G |
12: 72,355,124 (GRCm39) |
V274A |
probably benign |
Het |
Tatdn2 |
T |
A |
6: 113,681,017 (GRCm39) |
M289K |
probably benign |
Het |
Trak1 |
A |
G |
9: 121,283,382 (GRCm39) |
T476A |
possibly damaging |
Het |
Ube2i |
C |
A |
17: 25,488,410 (GRCm39) |
Q11H |
probably damaging |
Het |
Ugt2a3 |
A |
T |
5: 87,484,644 (GRCm39) |
C127S |
probably damaging |
Het |
Uimc1 |
T |
A |
13: 55,182,724 (GRCm39) |
Q619L |
probably benign |
Het |
Upk3a |
T |
A |
15: 84,903,786 (GRCm39) |
Y162N |
probably damaging |
Het |
Usp33 |
T |
C |
3: 152,097,854 (GRCm39) |
S849P |
probably damaging |
Het |
Vmn2r120 |
G |
A |
17: 57,832,732 (GRCm39) |
T149I |
possibly damaging |
Het |
Vmn2r15 |
G |
A |
5: 109,434,602 (GRCm39) |
P701S |
possibly damaging |
Het |
Vmn2r28 |
T |
C |
7: 5,484,087 (GRCm39) |
I704M |
possibly damaging |
Het |
Wdhd1 |
T |
C |
14: 47,488,239 (GRCm39) |
E756G |
possibly damaging |
Het |
Xlr3c |
C |
A |
X: 72,303,639 (GRCm39) |
V102F |
probably benign |
Het |
Zfp384 |
T |
G |
6: 125,002,016 (GRCm39) |
D220E |
probably benign |
Het |
Zfp521 |
A |
T |
18: 13,977,776 (GRCm39) |
V879E |
probably benign |
Het |
|
Other mutations in Ankrd28 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00769:Ankrd28
|
APN |
14 |
31,465,322 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01564:Ankrd28
|
APN |
14 |
31,477,724 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01624:Ankrd28
|
APN |
14 |
31,432,814 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01987:Ankrd28
|
APN |
14 |
31,500,931 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02100:Ankrd28
|
APN |
14 |
31,449,582 (GRCm39) |
unclassified |
probably benign |
|
IGL02307:Ankrd28
|
APN |
14 |
31,455,665 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02656:Ankrd28
|
APN |
14 |
31,424,197 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03069:Ankrd28
|
APN |
14 |
31,477,743 (GRCm39) |
nonsense |
probably null |
|
G1citation:Ankrd28
|
UTSW |
14 |
31,458,797 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0038:Ankrd28
|
UTSW |
14 |
31,429,992 (GRCm39) |
missense |
probably damaging |
0.99 |
R0038:Ankrd28
|
UTSW |
14 |
31,429,992 (GRCm39) |
missense |
probably damaging |
0.99 |
R0124:Ankrd28
|
UTSW |
14 |
31,449,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R0347:Ankrd28
|
UTSW |
14 |
31,423,979 (GRCm39) |
makesense |
probably null |
|
R0452:Ankrd28
|
UTSW |
14 |
31,470,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R0685:Ankrd28
|
UTSW |
14 |
31,465,407 (GRCm39) |
unclassified |
probably benign |
|
R0751:Ankrd28
|
UTSW |
14 |
31,486,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R1349:Ankrd28
|
UTSW |
14 |
31,467,218 (GRCm39) |
missense |
probably benign |
0.05 |
R1372:Ankrd28
|
UTSW |
14 |
31,467,218 (GRCm39) |
missense |
probably benign |
0.05 |
R1695:Ankrd28
|
UTSW |
14 |
31,429,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R1888:Ankrd28
|
UTSW |
14 |
31,453,982 (GRCm39) |
splice site |
probably benign |
|
R1938:Ankrd28
|
UTSW |
14 |
31,427,233 (GRCm39) |
missense |
possibly damaging |
0.74 |
R2001:Ankrd28
|
UTSW |
14 |
31,467,293 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2162:Ankrd28
|
UTSW |
14 |
31,430,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R2352:Ankrd28
|
UTSW |
14 |
31,432,904 (GRCm39) |
missense |
probably benign |
0.05 |
R2357:Ankrd28
|
UTSW |
14 |
31,486,251 (GRCm39) |
nonsense |
probably null |
|
R3545:Ankrd28
|
UTSW |
14 |
31,437,217 (GRCm39) |
missense |
probably benign |
0.13 |
R3548:Ankrd28
|
UTSW |
14 |
31,437,217 (GRCm39) |
missense |
probably benign |
0.13 |
R3710:Ankrd28
|
UTSW |
14 |
31,470,808 (GRCm39) |
splice site |
probably benign |
|
R4282:Ankrd28
|
UTSW |
14 |
31,467,182 (GRCm39) |
missense |
possibly damaging |
0.74 |
R4501:Ankrd28
|
UTSW |
14 |
31,428,753 (GRCm39) |
missense |
probably damaging |
0.97 |
R4513:Ankrd28
|
UTSW |
14 |
31,465,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R4658:Ankrd28
|
UTSW |
14 |
31,432,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R4731:Ankrd28
|
UTSW |
14 |
31,477,698 (GRCm39) |
missense |
probably benign |
0.43 |
R4732:Ankrd28
|
UTSW |
14 |
31,477,698 (GRCm39) |
missense |
probably benign |
0.43 |
R4733:Ankrd28
|
UTSW |
14 |
31,477,698 (GRCm39) |
missense |
probably benign |
0.43 |
R4776:Ankrd28
|
UTSW |
14 |
31,454,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R4801:Ankrd28
|
UTSW |
14 |
31,458,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R4802:Ankrd28
|
UTSW |
14 |
31,458,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R5279:Ankrd28
|
UTSW |
14 |
31,456,963 (GRCm39) |
missense |
probably damaging |
0.99 |
R5633:Ankrd28
|
UTSW |
14 |
31,457,022 (GRCm39) |
missense |
probably damaging |
1.00 |
R5809:Ankrd28
|
UTSW |
14 |
31,465,311 (GRCm39) |
missense |
probably benign |
0.19 |
R5959:Ankrd28
|
UTSW |
14 |
31,451,879 (GRCm39) |
missense |
probably benign |
0.16 |
R6228:Ankrd28
|
UTSW |
14 |
31,429,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R6358:Ankrd28
|
UTSW |
14 |
31,432,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R6533:Ankrd28
|
UTSW |
14 |
31,454,041 (GRCm39) |
missense |
possibly damaging |
0.49 |
R6598:Ankrd28
|
UTSW |
14 |
31,430,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R6822:Ankrd28
|
UTSW |
14 |
31,458,797 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7352:Ankrd28
|
UTSW |
14 |
31,429,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R7396:Ankrd28
|
UTSW |
14 |
31,424,159 (GRCm39) |
missense |
probably benign |
0.00 |
R7462:Ankrd28
|
UTSW |
14 |
31,500,886 (GRCm39) |
missense |
probably benign |
0.40 |
R7517:Ankrd28
|
UTSW |
14 |
31,437,331 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7629:Ankrd28
|
UTSW |
14 |
31,437,221 (GRCm39) |
missense |
probably benign |
0.00 |
R7783:Ankrd28
|
UTSW |
14 |
31,428,770 (GRCm39) |
missense |
probably damaging |
0.99 |
R7981:Ankrd28
|
UTSW |
14 |
31,424,114 (GRCm39) |
missense |
probably benign |
0.08 |
R8401:Ankrd28
|
UTSW |
14 |
31,467,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R8483:Ankrd28
|
UTSW |
14 |
31,457,048 (GRCm39) |
splice site |
probably null |
|
R8752:Ankrd28
|
UTSW |
14 |
31,477,699 (GRCm39) |
start gained |
probably benign |
|
R8946:Ankrd28
|
UTSW |
14 |
31,430,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R8963:Ankrd28
|
UTSW |
14 |
31,477,698 (GRCm39) |
missense |
probably benign |
0.06 |
R9064:Ankrd28
|
UTSW |
14 |
31,454,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R9181:Ankrd28
|
UTSW |
14 |
31,470,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R9231:Ankrd28
|
UTSW |
14 |
31,429,234 (GRCm39) |
missense |
possibly damaging |
0.91 |
RF010:Ankrd28
|
UTSW |
14 |
31,500,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-10-07 |