Incidental Mutation 'R5279:Ankrd28'
| ID |
404134 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd28
|
| Ensembl Gene |
ENSMUSG00000014496 |
| Gene Name |
ankyrin repeat domain 28 |
| Synonyms |
E430019N21Rik |
| MMRRC Submission |
042839-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.284)
|
| Stock # |
R5279 (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 31456963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 386
(N386Y)
|
| 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: N356Y
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000014640
Gene: ENSMUSG00000014496
AA Change: N356Y
| 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: N202Y
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227307
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227863
AA Change: N386Y
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227878
|
| Meta Mutation Damage Score |
0.2025 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
99% (73/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
C |
A |
17: 24,508,388 (GRCm39) |
G1049V |
probably damaging |
Het |
| Afdn |
G |
A |
17: 14,109,214 (GRCm39) |
R1579H |
probably damaging |
Het |
| Atf7ip |
T |
A |
6: 136,580,377 (GRCm39) |
Y1100* |
probably null |
Het |
| Atp9b |
T |
A |
18: 80,956,073 (GRCm39) |
E3V |
probably damaging |
Het |
| AW554918 |
T |
G |
18: 25,308,488 (GRCm39) |
D60E |
possibly damaging |
Het |
| Baz2b |
G |
T |
2: 59,762,496 (GRCm39) |
Q927K |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,957,042 (GRCm39) |
R3659G |
probably damaging |
Het |
| C8a |
T |
G |
4: 104,703,185 (GRCm39) |
N291H |
probably damaging |
Het |
| Calcoco1 |
G |
A |
15: 102,619,420 (GRCm39) |
L390F |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,739,028 (GRCm39) |
D894G |
probably damaging |
Het |
| Cdc20 |
A |
G |
4: 118,290,711 (GRCm39) |
Y430H |
probably damaging |
Het |
| Cdc6 |
A |
T |
11: 98,803,088 (GRCm39) |
I316F |
probably damaging |
Het |
| Ceacam23 |
T |
A |
7: 17,607,214 (GRCm39) |
|
noncoding transcript |
Het |
| Cenpu |
T |
A |
8: 47,031,945 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
T |
A |
4: 128,350,707 (GRCm39) |
V1592D |
probably benign |
Het |
| Csmd3 |
G |
T |
15: 48,655,340 (GRCm39) |
|
probably null |
Het |
| Dnah7c |
T |
C |
1: 46,558,429 (GRCm39) |
F512L |
probably benign |
Het |
| Fam136a |
T |
A |
6: 86,343,686 (GRCm39) |
L61Q |
probably damaging |
Het |
| Fpgs |
A |
C |
2: 32,582,779 (GRCm39) |
|
probably benign |
Het |
| Fzd4 |
G |
A |
7: 89,056,881 (GRCm39) |
M309I |
probably benign |
Het |
| Gad2 |
A |
G |
2: 22,563,969 (GRCm39) |
T391A |
probably benign |
Het |
| Gm11563 |
A |
T |
11: 99,549,539 (GRCm39) |
S72T |
unknown |
Het |
| Gon4l |
A |
G |
3: 88,794,944 (GRCm39) |
I716V |
probably benign |
Het |
| Itga9 |
T |
C |
9: 118,457,273 (GRCm39) |
V128A |
probably damaging |
Het |
| Kat6a |
CGCAGCAGCAGCAGCAGCA |
CGCAGCAGCAGCA |
8: 23,429,664 (GRCm39) |
|
probably benign |
Het |
| Lrrc9 |
T |
A |
12: 72,542,368 (GRCm39) |
D1063E |
possibly damaging |
Het |
| Lyst |
T |
A |
13: 13,823,387 (GRCm39) |
L1453* |
probably null |
Het |
| Mcm3ap |
T |
C |
10: 76,343,373 (GRCm39) |
V1755A |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,314,869 (GRCm39) |
S985P |
probably damaging |
Het |
| Mst1 |
A |
C |
9: 107,959,414 (GRCm39) |
K233N |
probably damaging |
Het |
| Nr2c2ap |
G |
A |
8: 70,584,653 (GRCm39) |
D42N |
probably damaging |
Het |
| Ntn1 |
A |
G |
11: 68,276,538 (GRCm39) |
S137P |
probably benign |
Het |
| Pard3 |
T |
C |
8: 128,186,867 (GRCm39) |
|
probably null |
Het |
| Pcdh15 |
T |
A |
10: 74,430,015 (GRCm39) |
D1210E |
probably damaging |
Het |
| Pcdhga5 |
T |
C |
18: 37,827,774 (GRCm39) |
L74P |
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,573,022 (GRCm39) |
|
probably null |
Het |
| Pdia3 |
T |
C |
2: 121,244,484 (GRCm39) |
|
probably benign |
Het |
| Pikfyve |
A |
T |
1: 65,235,858 (GRCm39) |
R177* |
probably null |
Het |
| Pklr |
A |
G |
3: 89,050,566 (GRCm39) |
E409G |
probably damaging |
Het |
| Plod2 |
T |
C |
9: 92,463,376 (GRCm39) |
Y154H |
probably damaging |
Het |
| Psmc3 |
T |
A |
2: 90,884,667 (GRCm39) |
D6E |
probably benign |
Het |
| Ptpru |
T |
A |
4: 131,547,334 (GRCm39) |
N205I |
possibly damaging |
Het |
| Rbm6 |
T |
C |
9: 107,655,213 (GRCm39) |
E1006G |
probably benign |
Het |
| Rgl2 |
T |
C |
17: 34,154,922 (GRCm39) |
V642A |
probably benign |
Het |
| Rnf8 |
T |
A |
17: 29,845,680 (GRCm39) |
H104Q |
possibly damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Rpa1 |
T |
C |
11: 75,204,170 (GRCm39) |
N269S |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,757,857 (GRCm39) |
M519T |
probably benign |
Het |
| Snx30 |
A |
G |
4: 59,885,070 (GRCm39) |
S237G |
probably benign |
Het |
| Spx |
A |
G |
6: 142,359,766 (GRCm39) |
N36S |
probably damaging |
Het |
| Stard7 |
T |
C |
2: 127,137,416 (GRCm39) |
Y289H |
probably damaging |
Het |
| Sugp2 |
T |
C |
8: 70,709,757 (GRCm39) |
|
probably benign |
Het |
| Susd4 |
C |
T |
1: 182,715,043 (GRCm39) |
T288I |
probably damaging |
Het |
| Tceanc2 |
T |
A |
4: 107,034,826 (GRCm39) |
|
probably null |
Het |
| Tm4sf4 |
T |
G |
3: 57,341,159 (GRCm39) |
V97G |
probably benign |
Het |
| Tmtc1 |
C |
T |
6: 148,256,629 (GRCm39) |
|
probably benign |
Het |
| Trappc11 |
C |
T |
8: 47,958,339 (GRCm39) |
|
probably benign |
Het |
| Triobp |
G |
T |
15: 78,878,591 (GRCm39) |
V398F |
possibly damaging |
Het |
| Ttll9 |
T |
A |
2: 152,804,464 (GRCm39) |
S2T |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,731,320 (GRCm39) |
|
probably benign |
Het |
| Tyw3 |
A |
G |
3: 154,300,108 (GRCm39) |
C80R |
probably damaging |
Het |
| Usp24 |
T |
C |
4: 106,242,621 (GRCm39) |
V1177A |
possibly damaging |
Het |
| Vmn1r65 |
A |
G |
7: 6,011,754 (GRCm39) |
V160A |
probably damaging |
Het |
| Vmn2r104 |
T |
A |
17: 20,262,146 (GRCm39) |
H328L |
probably benign |
Het |
| Vmn2r65 |
A |
C |
7: 84,589,849 (GRCm39) |
I689S |
probably damaging |
Het |
| Wrn |
A |
G |
8: 33,731,129 (GRCm39) |
Y1068H |
probably damaging |
Het |
| Xpo4 |
C |
A |
14: 57,850,866 (GRCm39) |
S346I |
probably benign |
Het |
| Zc3h3 |
T |
A |
15: 75,711,439 (GRCm39) |
T341S |
probably benign |
Het |
| Zxdc |
T |
C |
6: 90,347,419 (GRCm39) |
M260T |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTCTACAGCTGGTCCAAG -3'
(R):5'- GTTGCCCATTACTTGATGCTTAAAC -3'
Sequencing Primer
(F):5'- GAGTGTGTGCAATTTTTAGAACTTC -3'
(R):5'- CCTTTATTGCAGGAGCTGT -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation