Incidental Mutation 'R5809:Ankrd28'
ID |
448932 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd28
|
Ensembl Gene |
ENSMUSG00000014496 |
Gene Name |
ankyrin repeat domain 28 |
Synonyms |
E430019N21Rik |
MMRRC Submission |
043394-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.284)
|
Stock # |
R5809 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
31420725-31552608 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 31465311 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 289
(I289L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153992
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014640]
[ENSMUST00000227089]
[ENSMUST00000227863]
[ENSMUST00000227878]
[ENSMUST00000228037]
|
AlphaFold |
Q505D1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000014640
AA Change: I259L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000014640 Gene: ENSMUSG00000014496 AA Change: I259L
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: ENSMUST00000226963
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227083
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227089
AA Change: I105L
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227307
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227863
AA Change: I289L
PolyPhen 2
Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227878
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228037
|
Meta Mutation Damage Score |
0.0793 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
99% (77/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A230072I06Rik |
A |
G |
8: 12,329,556 (GRCm39) |
S4G |
unknown |
Het |
AA623943 |
T |
C |
11: 94,703,828 (GRCm39) |
|
noncoding transcript |
Het |
Abca13 |
T |
A |
11: 9,243,692 (GRCm39) |
S1852T |
probably damaging |
Het |
Ackr2 |
G |
A |
9: 121,738,540 (GRCm39) |
C305Y |
probably damaging |
Het |
Aebp1 |
T |
C |
11: 5,820,257 (GRCm39) |
V411A |
probably benign |
Het |
Akp3 |
G |
A |
1: 87,054,270 (GRCm39) |
R269H |
probably benign |
Het |
Alox15 |
C |
A |
11: 70,241,708 (GRCm39) |
G58W |
probably damaging |
Het |
Ankle2 |
A |
G |
5: 110,385,856 (GRCm39) |
N369S |
probably damaging |
Het |
Atp13a4 |
T |
A |
16: 29,252,805 (GRCm39) |
T714S |
possibly damaging |
Het |
Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
Blm |
A |
T |
7: 80,114,592 (GRCm39) |
L1159Q |
probably damaging |
Het |
Caskin1 |
G |
A |
17: 24,723,521 (GRCm39) |
V770I |
probably benign |
Het |
Ccdc148 |
T |
A |
2: 58,713,657 (GRCm39) |
H498L |
probably damaging |
Het |
Cdh26 |
T |
A |
2: 178,101,919 (GRCm39) |
Y179* |
probably null |
Het |
Cela2a |
T |
A |
4: 141,552,864 (GRCm39) |
T38S |
probably benign |
Het |
Cep350 |
A |
T |
1: 155,809,087 (GRCm39) |
N496K |
probably damaging |
Het |
Cep89 |
A |
G |
7: 35,117,151 (GRCm39) |
Y251C |
probably damaging |
Het |
Cluh |
T |
C |
11: 74,552,526 (GRCm39) |
S524P |
probably damaging |
Het |
Cpeb4 |
T |
C |
11: 31,822,801 (GRCm39) |
S172P |
probably damaging |
Het |
Ctnnd2 |
T |
C |
15: 30,847,523 (GRCm39) |
S705P |
probably damaging |
Het |
Dock2 |
T |
G |
11: 34,212,445 (GRCm39) |
D1232A |
probably benign |
Het |
Donson |
T |
C |
16: 91,484,738 (GRCm39) |
N9S |
possibly damaging |
Het |
Gdf9 |
T |
C |
11: 53,324,381 (GRCm39) |
L50P |
probably benign |
Het |
Gm10300 |
C |
T |
4: 131,802,458 (GRCm39) |
|
probably benign |
Het |
Gm8369 |
A |
G |
19: 11,482,248 (GRCm39) |
|
probably benign |
Het |
Gm8674 |
T |
A |
13: 50,055,924 (GRCm39) |
|
noncoding transcript |
Het |
Hepacam |
T |
A |
9: 37,296,101 (GRCm39) |
S417R |
possibly damaging |
Het |
Hibch |
T |
A |
1: 52,892,859 (GRCm39) |
L23Q |
probably benign |
Het |
Hmcn1 |
G |
A |
1: 150,525,358 (GRCm39) |
R3389C |
probably damaging |
Het |
Hsp90ab1 |
G |
T |
17: 45,881,575 (GRCm39) |
|
probably benign |
Het |
Hunk |
C |
A |
16: 90,272,791 (GRCm39) |
T365K |
probably damaging |
Het |
Il12a |
A |
T |
3: 68,602,595 (GRCm39) |
|
probably benign |
Het |
Ints13 |
A |
G |
6: 146,477,847 (GRCm39) |
V34A |
probably benign |
Het |
Intu |
A |
C |
3: 40,634,020 (GRCm39) |
M418L |
probably damaging |
Het |
Khdc4 |
A |
G |
3: 88,616,192 (GRCm39) |
R460G |
probably damaging |
Het |
Klra9 |
A |
G |
6: 130,156,036 (GRCm39) |
S240P |
probably damaging |
Het |
Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
Ndrg1 |
A |
G |
15: 66,802,699 (GRCm39) |
|
probably benign |
Het |
Or11g24 |
T |
C |
14: 50,662,905 (GRCm39) |
*310Q |
probably null |
Het |
Or5k17 |
T |
C |
16: 58,746,860 (GRCm39) |
T25A |
probably benign |
Het |
Pate6 |
C |
T |
9: 35,700,297 (GRCm39) |
C96Y |
probably damaging |
Het |
Pax7 |
A |
G |
4: 139,557,682 (GRCm39) |
S30P |
probably damaging |
Het |
Pdcd11 |
A |
T |
19: 47,082,247 (GRCm39) |
T54S |
probably benign |
Het |
Pex19 |
T |
C |
1: 171,958,306 (GRCm39) |
V95A |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,383,103 (GRCm39) |
I1121V |
probably benign |
Het |
Pklr |
A |
T |
3: 89,049,091 (GRCm39) |
I146F |
probably benign |
Het |
Plcb1 |
T |
C |
2: 135,104,164 (GRCm39) |
Y278H |
possibly damaging |
Het |
Plcl1 |
T |
A |
1: 55,735,160 (GRCm39) |
I167N |
probably damaging |
Het |
Plekhh1 |
A |
T |
12: 79,125,461 (GRCm39) |
I1241F |
probably benign |
Het |
Plxnb2 |
G |
T |
15: 89,051,774 (GRCm39) |
D148E |
possibly damaging |
Het |
Pthlh |
T |
C |
6: 147,158,745 (GRCm39) |
I72V |
probably damaging |
Het |
Ptpru |
C |
T |
4: 131,513,067 (GRCm39) |
R880Q |
probably benign |
Het |
Rrp36 |
T |
C |
17: 46,978,932 (GRCm39) |
K209E |
probably damaging |
Het |
Scarb1 |
A |
G |
5: 125,381,286 (GRCm39) |
V86A |
probably damaging |
Het |
Sh2d7 |
A |
C |
9: 54,446,860 (GRCm39) |
S37R |
probably benign |
Het |
Slc13a2 |
A |
T |
11: 78,288,647 (GRCm39) |
V543E |
probably damaging |
Het |
Smarcal1 |
A |
G |
1: 72,630,296 (GRCm39) |
T117A |
probably benign |
Het |
Smok2a |
A |
G |
17: 13,445,865 (GRCm39) |
R481G |
possibly damaging |
Het |
Smr2 |
G |
A |
5: 88,256,699 (GRCm39) |
A126T |
probably benign |
Het |
Sspo |
G |
T |
6: 48,436,979 (GRCm39) |
W1304C |
possibly damaging |
Het |
Svep1 |
A |
G |
4: 58,116,524 (GRCm39) |
S909P |
possibly damaging |
Het |
Tchh |
A |
T |
3: 93,352,880 (GRCm39) |
K773N |
unknown |
Het |
Tmem156 |
T |
C |
5: 65,232,950 (GRCm39) |
N140S |
possibly damaging |
Het |
Tmem213 |
T |
C |
6: 38,092,589 (GRCm39) |
I107T |
possibly damaging |
Het |
Tpd52l2 |
A |
G |
2: 181,153,372 (GRCm39) |
Y161C |
probably damaging |
Het |
Trappc8 |
C |
T |
18: 20,951,139 (GRCm39) |
A1436T |
probably benign |
Het |
Ubr3 |
A |
G |
2: 69,795,855 (GRCm39) |
Y933C |
possibly damaging |
Het |
Ufm1 |
A |
T |
3: 53,765,303 (GRCm39) |
|
probably benign |
Het |
Wdr27 |
A |
T |
17: 15,103,931 (GRCm39) |
L725Q |
probably damaging |
Het |
Zdbf2 |
A |
G |
1: 63,345,035 (GRCm39) |
D1138G |
possibly damaging |
Het |
Zkscan16 |
G |
A |
4: 58,946,481 (GRCm39) |
V119M |
probably damaging |
Het |
Zmat5 |
A |
G |
11: 4,672,431 (GRCm39) |
D16G |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATGTTCATAAGTTTACTAGTGGATCC -3'
(R):5'- TGTAGCCCATATAAAACTAAGTTGC -3'
Sequencing Primer
(F):5'- ATCAGCTCCATTGCCAAC -3'
(R):5'- GTAGTAATAGAATTCCCATTCC -3'
|
Posted On |
2016-12-15 |