Incidental Mutation 'IGL03069:Ankrd28'
| ID |
409810 |
| 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 # |
IGL03069
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
31420725-31552608 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 31477743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 42
(K42*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154667
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014640]
[ENSMUST00000227089]
[ENSMUST00000227863]
[ENSMUST00000228037]
|
| AlphaFold |
Q505D1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000014640
AA Change: K70*
|
| SMART Domains |
Protein: ENSMUSP00000014640
Gene: ENSMUSG00000014496
AA Change: K70*
| 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: ENSMUST00000227034
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227089
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227863
AA Change: K100*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000228037
AA Change: K42*
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
T |
G |
8: 13,607,704 (GRCm39) |
|
probably null |
Het |
| Acp3 |
T |
C |
9: 104,197,204 (GRCm39) |
E145G |
possibly damaging |
Het |
| Arsg |
A |
T |
11: 109,454,082 (GRCm39) |
K429N |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,991,462 (GRCm39) |
T1430I |
probably damaging |
Het |
| Calu |
A |
G |
6: 29,356,582 (GRCm39) |
D36G |
possibly damaging |
Het |
| Ccdc18 |
T |
C |
5: 108,376,767 (GRCm39) |
S1403P |
probably damaging |
Het |
| Cdca2 |
A |
G |
14: 67,952,385 (GRCm39) |
|
probably benign |
Het |
| Cfh |
C |
A |
1: 140,026,793 (GRCm39) |
|
probably benign |
Het |
| Cyp2c69 |
C |
T |
19: 39,869,537 (GRCm39) |
G161S |
probably benign |
Het |
| Dennd4c |
C |
A |
4: 86,692,674 (GRCm39) |
Y61* |
probably null |
Het |
| Diaph3 |
A |
G |
14: 87,009,555 (GRCm39) |
S1075P |
probably damaging |
Het |
| Dpp7 |
T |
A |
2: 25,245,735 (GRCm39) |
|
probably null |
Het |
| Dtd1 |
T |
A |
2: 144,588,981 (GRCm39) |
|
probably benign |
Het |
| Dtl |
C |
A |
1: 191,289,008 (GRCm39) |
|
probably benign |
Het |
| Exoc3l4 |
A |
G |
12: 111,390,457 (GRCm39) |
D344G |
probably damaging |
Het |
| Hsp90ab1 |
A |
T |
17: 45,879,954 (GRCm39) |
C159S |
possibly damaging |
Het |
| Kcnip2 |
T |
C |
19: 45,784,710 (GRCm39) |
|
probably benign |
Het |
| Krba1 |
A |
G |
6: 48,391,483 (GRCm39) |
T755A |
possibly damaging |
Het |
| L2hgdh |
C |
T |
12: 69,739,173 (GRCm39) |
V433I |
probably benign |
Het |
| Lamc1 |
A |
T |
1: 153,115,127 (GRCm39) |
L1050I |
probably damaging |
Het |
| Lgals4 |
A |
T |
7: 28,540,343 (GRCm39) |
I213L |
probably benign |
Het |
| Lysmd1 |
A |
G |
3: 95,044,945 (GRCm39) |
I64V |
probably damaging |
Het |
| Mfsd4b4 |
A |
C |
10: 39,768,311 (GRCm39) |
C261G |
probably benign |
Het |
| Mrgprb3 |
T |
A |
7: 48,293,198 (GRCm39) |
I118F |
possibly damaging |
Het |
| Mtmr2 |
T |
A |
9: 13,704,501 (GRCm39) |
Y137* |
probably null |
Het |
| Ofcc1 |
A |
T |
13: 40,226,140 (GRCm39) |
H797Q |
probably benign |
Het |
| Omd |
A |
T |
13: 49,745,870 (GRCm39) |
|
probably benign |
Het |
| Or5d46 |
C |
T |
2: 88,170,643 (GRCm39) |
|
probably null |
Het |
| Or8g21 |
A |
T |
9: 38,906,728 (GRCm39) |
M1K |
probably null |
Het |
| Polr3a |
T |
A |
14: 24,511,808 (GRCm39) |
D916V |
probably damaging |
Het |
| Prpf38a |
T |
C |
4: 108,432,628 (GRCm39) |
Y117C |
probably damaging |
Het |
| Scn11a |
C |
T |
9: 119,619,029 (GRCm39) |
G771D |
probably benign |
Het |
| Smarca4 |
C |
T |
9: 21,547,132 (GRCm39) |
T219I |
probably benign |
Het |
| Snx1 |
T |
A |
9: 66,001,906 (GRCm39) |
I306F |
probably benign |
Het |
| Snx31 |
T |
A |
15: 36,525,749 (GRCm39) |
R317* |
probably null |
Het |
| Sorl1 |
T |
C |
9: 41,902,722 (GRCm39) |
T1612A |
probably benign |
Het |
| Spag1 |
G |
T |
15: 36,224,245 (GRCm39) |
|
probably benign |
Het |
| Stambp |
A |
G |
6: 83,538,914 (GRCm39) |
F162S |
probably damaging |
Het |
| Tkfc |
T |
A |
19: 10,576,518 (GRCm39) |
M122L |
probably benign |
Het |
| Tnni3k |
T |
A |
3: 154,647,242 (GRCm39) |
|
probably null |
Het |
| Trim56 |
T |
C |
5: 137,142,616 (GRCm39) |
Q300R |
probably damaging |
Het |
| Ttc24 |
T |
A |
3: 87,977,408 (GRCm39) |
T113S |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,339,876 (GRCm39) |
T706S |
possibly damaging |
Het |
| Yipf5 |
T |
A |
18: 40,339,290 (GRCm39) |
|
probably benign |
Het |
| Zfp202 |
T |
C |
9: 40,122,695 (GRCm39) |
S486P |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,369,100 (GRCm39) |
S1676P |
probably damaging |
Het |
| Znrd2 |
G |
T |
19: 5,780,450 (GRCm39) |
L183I |
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 |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation