Incidental Mutation 'IGL02307:Ankrd28'
ID |
287656 |
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 # |
IGL02307
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
31420725-31552608 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 31455665 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 417
(C417R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153992
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014640]
[ENSMUST00000227089]
[ENSMUST00000227863]
[ENSMUST00000227878]
|
AlphaFold |
Q505D1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000014640
AA Change: C387R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000014640 Gene: ENSMUSG00000014496 AA Change: C387R
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 |
noncoding transcript
Transcript: ENSMUST00000227083
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227089
AA Change: C233R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227307
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227863
AA Change: C417R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227878
|
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 |
Abca4 |
A |
G |
3: 121,935,395 (GRCm39) |
D323G |
probably damaging |
Het |
Astn1 |
C |
T |
1: 158,502,184 (GRCm39) |
R1133C |
probably damaging |
Het |
Bdp1 |
C |
A |
13: 100,229,946 (GRCm39) |
G256V |
probably damaging |
Het |
Cald1 |
A |
G |
6: 34,730,390 (GRCm39) |
K252E |
probably damaging |
Het |
Ccdc141 |
T |
C |
2: 76,859,686 (GRCm39) |
E985G |
probably damaging |
Het |
Cdc23 |
A |
G |
18: 34,774,442 (GRCm39) |
I279T |
possibly damaging |
Het |
Col16a1 |
C |
T |
4: 129,952,802 (GRCm39) |
P416L |
probably damaging |
Het |
Coro1a |
T |
C |
7: 126,300,736 (GRCm39) |
D197G |
probably damaging |
Het |
Ctnnd2 |
C |
T |
15: 30,647,357 (GRCm39) |
T351I |
possibly damaging |
Het |
Fam76b |
A |
G |
9: 13,755,332 (GRCm39) |
N313S |
probably damaging |
Het |
Fbxw20 |
C |
A |
9: 109,062,601 (GRCm39) |
W75L |
possibly damaging |
Het |
Gjd2 |
T |
C |
2: 113,842,394 (GRCm39) |
T28A |
possibly damaging |
Het |
Glyctk |
A |
C |
9: 106,032,963 (GRCm39) |
L350R |
possibly damaging |
Het |
Gm20726 |
A |
T |
14: 54,870,060 (GRCm39) |
V237D |
probably damaging |
Het |
Gm57858 |
T |
C |
3: 36,073,016 (GRCm39) |
K422R |
possibly damaging |
Het |
Gpr22 |
C |
A |
12: 31,758,739 (GRCm39) |
C461F |
possibly damaging |
Het |
Grhl2 |
A |
G |
15: 37,288,532 (GRCm39) |
T279A |
probably damaging |
Het |
Gstm3 |
G |
A |
3: 107,874,929 (GRCm39) |
R108C |
probably damaging |
Het |
Haus6 |
T |
C |
4: 86,502,072 (GRCm39) |
T600A |
possibly damaging |
Het |
Htra4 |
G |
A |
8: 25,523,710 (GRCm39) |
A285V |
probably damaging |
Het |
Igkv14-100 |
C |
T |
6: 68,496,349 (GRCm39) |
P81S |
probably damaging |
Het |
Kif24 |
T |
G |
4: 41,395,274 (GRCm39) |
Q533P |
probably benign |
Het |
Klhl1 |
A |
T |
14: 96,438,809 (GRCm39) |
N496K |
possibly damaging |
Het |
Lama3 |
G |
T |
18: 12,714,840 (GRCm39) |
R1667L |
probably benign |
Het |
Lct |
T |
A |
1: 128,214,327 (GRCm39) |
H1815L |
possibly damaging |
Het |
Mrgprb2 |
T |
A |
7: 48,202,644 (GRCm39) |
Y27F |
probably benign |
Het |
Mrpl15 |
A |
T |
1: 4,854,176 (GRCm39) |
H86Q |
possibly damaging |
Het |
Myo10 |
C |
T |
15: 25,776,401 (GRCm39) |
|
probably benign |
Het |
Nrp1 |
T |
C |
8: 129,229,201 (GRCm39) |
L893P |
probably damaging |
Het |
Or4n4b |
A |
C |
14: 50,536,295 (GRCm39) |
I157S |
probably damaging |
Het |
Or51a8 |
A |
T |
7: 102,550,086 (GRCm39) |
N171Y |
probably benign |
Het |
Ovol1 |
T |
A |
19: 5,603,643 (GRCm39) |
D86V |
possibly damaging |
Het |
Pacs2 |
T |
A |
12: 113,034,393 (GRCm39) |
M851K |
probably damaging |
Het |
Pde1a |
A |
T |
2: 79,736,412 (GRCm39) |
M39K |
possibly damaging |
Het |
Pdpn |
T |
C |
4: 143,000,550 (GRCm39) |
H94R |
possibly damaging |
Het |
Plcg2 |
T |
A |
8: 118,306,635 (GRCm39) |
|
probably null |
Het |
Pzp |
A |
T |
6: 128,466,049 (GRCm39) |
Y1210* |
probably null |
Het |
Rnf148 |
G |
T |
6: 23,654,890 (GRCm39) |
S35R |
probably benign |
Het |
Ros1 |
A |
T |
10: 52,004,534 (GRCm39) |
S1008T |
possibly damaging |
Het |
Rps18-ps6 |
G |
T |
13: 97,896,871 (GRCm39) |
Q76K |
probably benign |
Het |
Sis |
A |
T |
3: 72,819,167 (GRCm39) |
|
probably benign |
Het |
Spag9 |
T |
A |
11: 93,992,986 (GRCm39) |
|
probably null |
Het |
Srbd1 |
A |
G |
17: 86,433,616 (GRCm39) |
L327P |
probably damaging |
Het |
Steap3 |
A |
T |
1: 120,169,390 (GRCm39) |
Y264* |
probably null |
Het |
Swap70 |
A |
G |
7: 109,880,501 (GRCm39) |
E572G |
probably benign |
Het |
Traf7 |
C |
A |
17: 24,732,020 (GRCm39) |
C193F |
possibly damaging |
Het |
Trmt11 |
T |
C |
10: 30,470,150 (GRCm39) |
D58G |
possibly damaging |
Het |
Tsc22d1 |
T |
C |
14: 76,653,901 (GRCm39) |
S127P |
probably damaging |
Het |
Usf1 |
T |
A |
1: 171,243,314 (GRCm39) |
S30R |
probably damaging |
Het |
Ush1c |
A |
G |
7: 45,846,612 (GRCm39) |
|
probably benign |
Het |
Utrn |
A |
T |
10: 12,625,809 (GRCm39) |
L124* |
probably null |
Het |
Vmn2r75 |
T |
C |
7: 85,814,974 (GRCm39) |
N173S |
probably benign |
Het |
Zic2 |
T |
C |
14: 122,714,046 (GRCm39) |
V320A |
possibly damaging |
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 |
IGL01335:Ankrd28
|
APN |
14 |
31,423,981 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
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 |
2015-04-16 |