Incidental Mutation 'R8483:Ankrd28'
| ID |
668215 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd28
|
| Ensembl Gene |
ENSMUSG00000014496 |
| Gene Name |
ankyrin repeat domain 28 |
| Synonyms |
E430019N21Rik |
| MMRRC Submission |
067927-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.284)
|
| Stock # |
R8483 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
31420725-31552608 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 31457048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014640]
[ENSMUST00000014640]
[ENSMUST00000227089]
[ENSMUST00000227089]
[ENSMUST00000227863]
[ENSMUST00000227863]
[ENSMUST00000227878]
|
| AlphaFold |
Q505D1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000014640
|
| SMART Domains |
Protein: ENSMUSP00000014640
Gene: ENSMUSG00000014496
| 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 null
Transcript: ENSMUST00000014640
|
| SMART Domains |
Protein: ENSMUSP00000014640
Gene: ENSMUSG00000014496
| 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 null
Transcript: ENSMUST00000227089
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227089
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227863
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227863
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227878
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ang6 |
A |
G |
14: 44,239,285 (GRCm39) |
*148Q |
probably null |
Het |
| Ark2c |
G |
A |
18: 77,556,034 (GRCm39) |
A174V |
probably benign |
Het |
| Aurkc |
T |
A |
7: 6,999,664 (GRCm39) |
L57* |
probably null |
Het |
| Brca1 |
T |
C |
11: 101,416,802 (GRCm39) |
D444G |
probably damaging |
Het |
| Cd200l1 |
T |
A |
16: 45,240,235 (GRCm39) |
I134F |
possibly damaging |
Het |
| Cdhr4 |
T |
C |
9: 107,872,198 (GRCm39) |
V204A |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,822,412 (GRCm39) |
D835G |
possibly damaging |
Het |
| Cux1 |
C |
A |
5: 136,303,944 (GRCm39) |
A1328S |
possibly damaging |
Het |
| Cwc27 |
G |
T |
13: 104,940,772 (GRCm39) |
P196T |
probably benign |
Het |
| Cwc27 |
C |
A |
13: 104,940,776 (GRCm39) |
L194F |
possibly damaging |
Het |
| Cyp39a1 |
A |
G |
17: 43,993,898 (GRCm39) |
D186G |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,536,253 (GRCm39) |
I3677V |
probably benign |
Het |
| Dnmt3b |
A |
G |
2: 153,516,306 (GRCm39) |
D477G |
probably damaging |
Het |
| Drc1 |
A |
T |
5: 30,507,785 (GRCm39) |
Y269F |
probably benign |
Het |
| Esco2 |
T |
C |
14: 66,069,118 (GRCm39) |
H64R |
probably benign |
Het |
| Gcnt3 |
A |
T |
9: 69,941,959 (GRCm39) |
V203E |
probably damaging |
Het |
| Gpam |
A |
C |
19: 55,077,374 (GRCm39) |
V139G |
probably damaging |
Het |
| Gsta3 |
G |
A |
1: 21,333,063 (GRCm39) |
S104N |
probably damaging |
Het |
| Hsd17b13 |
C |
T |
5: 104,125,049 (GRCm39) |
G45R |
probably damaging |
Het |
| Ighe |
T |
C |
12: 113,235,808 (GRCm39) |
M173V |
|
Het |
| Ipo5 |
A |
G |
14: 121,183,560 (GRCm39) |
E1046G |
probably benign |
Het |
| Kank4 |
T |
A |
4: 98,659,615 (GRCm39) |
Q821L |
probably damaging |
Het |
| Kat6b |
G |
T |
14: 21,719,461 (GRCm39) |
S1271I |
probably damaging |
Het |
| Klhl1 |
A |
G |
14: 96,619,370 (GRCm39) |
S176P |
probably benign |
Het |
| Lbhd2 |
G |
A |
12: 111,378,190 (GRCm39) |
D86N |
probably damaging |
Het |
| Lrp1 |
G |
A |
10: 127,394,519 (GRCm39) |
R2565C |
probably damaging |
Het |
| Lrrc55 |
A |
T |
2: 85,022,295 (GRCm39) |
C299S |
probably benign |
Het |
| Mtres1 |
T |
C |
10: 43,408,915 (GRCm39) |
Y76C |
probably benign |
Het |
| Nprl3 |
T |
A |
11: 32,213,083 (GRCm39) |
S44C |
probably damaging |
Het |
| Nucks1 |
A |
G |
1: 131,855,829 (GRCm39) |
H86R |
possibly damaging |
Het |
| Or14j3 |
A |
G |
17: 37,900,866 (GRCm39) |
V126A |
possibly damaging |
Het |
| Or4s2 |
A |
G |
2: 88,473,678 (GRCm39) |
D189G |
probably benign |
Het |
| Or6c219 |
T |
A |
10: 129,780,998 (GRCm39) |
H311L |
probably benign |
Het |
| Ovgp1 |
T |
A |
3: 105,894,311 (GRCm39) |
|
probably benign |
Het |
| Oxa1l |
G |
A |
14: 54,606,001 (GRCm39) |
|
probably null |
Het |
| Patj |
C |
A |
4: 98,312,539 (GRCm39) |
H292Q |
probably damaging |
Het |
| Pcdha9 |
A |
G |
18: 37,131,636 (GRCm39) |
N235S |
probably benign |
Het |
| Pcdhb12 |
A |
T |
18: 37,570,590 (GRCm39) |
T579S |
possibly damaging |
Het |
| Pde3b |
A |
G |
7: 114,118,803 (GRCm39) |
I647M |
probably benign |
Het |
| Pdp1 |
T |
C |
4: 11,961,982 (GRCm39) |
R110G |
probably benign |
Het |
| Prb1a |
T |
G |
6: 132,185,398 (GRCm39) |
R78S |
unknown |
Het |
| Prmt8 |
A |
C |
6: 127,680,976 (GRCm39) |
|
probably null |
Het |
| Semp2l2a |
T |
A |
8: 13,888,229 (GRCm39) |
|
probably benign |
Het |
| Slc35f2 |
T |
A |
9: 53,716,985 (GRCm39) |
Y249* |
probably null |
Het |
| Smok2b |
A |
C |
17: 13,453,908 (GRCm39) |
M23L |
probably benign |
Het |
| Sra1 |
A |
G |
18: 36,800,879 (GRCm39) |
I153T |
probably benign |
Het |
| Stk38l |
T |
A |
6: 146,660,017 (GRCm39) |
H16Q |
possibly damaging |
Het |
| Tent5c |
T |
A |
3: 100,379,784 (GRCm39) |
H324L |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,732,869 (GRCm39) |
S3073P |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,230,953 (GRCm39) |
I844T |
probably damaging |
Het |
| V1ra8 |
A |
T |
6: 90,179,916 (GRCm39) |
I40F |
probably benign |
Het |
| Vmn2r88 |
T |
A |
14: 51,650,530 (GRCm39) |
M81K |
possibly damaging |
Het |
| Vps8 |
T |
C |
16: 21,393,763 (GRCm39) |
I1182T |
probably damaging |
Het |
| Wdr54 |
A |
G |
6: 83,130,591 (GRCm39) |
V181A |
probably benign |
Het |
| Zbed4 |
A |
G |
15: 88,665,990 (GRCm39) |
Y686C |
probably damaging |
Het |
| Zfyve28 |
T |
C |
5: 34,393,480 (GRCm39) |
N62S |
possibly damaging |
Het |
| Zic1 |
T |
C |
9: 91,246,424 (GRCm39) |
Y216C |
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 |
|
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 |
|
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'- CCACTGCTGAGGAGAAATCC -3'
(R):5'- TGCACCCTAGAACCCTTCTG -3'
Sequencing Primer
(F):5'- TGCTGAGGAGAAATCCCCACTTC -3'
(R):5'- CTCCAGTAAATATGTTGCCC -3'
|
| Posted On |
2021-04-29 |
Incidental Mutation