Incidental Mutation 'R8946:Ankrd28'
| ID |
681323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd28
|
| Ensembl Gene |
ENSMUSG00000014496 |
| Gene Name |
ankyrin repeat domain 28 |
| Synonyms |
E430019N21Rik |
| MMRRC Submission |
068784-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.284)
|
| Stock # |
R8946 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
31420725-31552608 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31430083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 862
(F862L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014640]
[ENSMUST00000227089]
[ENSMUST00000227863]
|
| AlphaFold |
Q505D1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014640
AA Change: F832L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000014640
Gene: ENSMUSG00000014496
AA Change: F832L
| 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 benign
Transcript: ENSMUST00000227089
AA Change: F678L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227863
AA Change: F862L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.1110 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
97% (65/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap12 |
A |
G |
10: 4,304,368 (GRCm39) |
S393G |
probably damaging |
Het |
| Ankrd31 |
T |
C |
13: 97,046,037 (GRCm39) |
*1546Q |
probably null |
Het |
| Ankrd33b |
T |
C |
15: 31,297,894 (GRCm39) |
T288A |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,145,227 (GRCm39) |
I1331T |
possibly damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,146,601 (GRCm39) |
L231P |
probably damaging |
Het |
| C1qtnf12 |
T |
C |
4: 156,050,882 (GRCm39) |
F284L |
probably damaging |
Het |
| Caprin1 |
A |
T |
2: 103,608,378 (GRCm39) |
H250Q |
probably damaging |
Het |
| Cd2bp2 |
A |
C |
7: 126,793,923 (GRCm39) |
I122S |
probably damaging |
Het |
| Cd300lf |
T |
A |
11: 115,024,738 (GRCm39) |
|
probably benign |
Het |
| Ceacam14 |
A |
G |
7: 17,547,999 (GRCm39) |
I30V |
probably benign |
Het |
| Chchd1 |
T |
A |
14: 20,753,385 (GRCm39) |
*56R |
probably null |
Het |
| Ckap5 |
A |
G |
2: 91,409,861 (GRCm39) |
T948A |
probably benign |
Het |
| Clec12a |
A |
T |
6: 129,340,949 (GRCm39) |
N243I |
possibly damaging |
Het |
| Col11a2 |
A |
G |
17: 34,270,757 (GRCm39) |
M462V |
probably benign |
Het |
| Col6a5 |
C |
T |
9: 105,822,833 (GRCm39) |
E175K |
unknown |
Het |
| Csnka2ip |
T |
C |
16: 64,300,667 (GRCm39) |
|
probably benign |
Het |
| D130040H23Rik |
C |
A |
8: 69,755,033 (GRCm39) |
T146N |
possibly damaging |
Het |
| Dennd5b |
T |
C |
6: 148,943,485 (GRCm39) |
|
probably benign |
Het |
| Fanci |
A |
G |
7: 79,045,726 (GRCm39) |
T23A |
probably benign |
Het |
| Fmnl1 |
T |
C |
11: 103,071,741 (GRCm39) |
Y83H |
probably damaging |
Het |
| Galnt13 |
C |
A |
2: 54,770,075 (GRCm39) |
T289N |
probably benign |
Het |
| Gcn1 |
A |
G |
5: 115,733,404 (GRCm39) |
D1074G |
probably benign |
Het |
| Gm10801 |
ATTTTCAGTTTTCTTGCCATATTCCACGTCCTGCACTGGACATTTCTAAATTTTCCACCTTTTTCAGTTTTC |
ATTTTCAGTTTTC |
2: 98,492,669 (GRCm39) |
|
probably null |
Het |
| Gnl1 |
T |
C |
17: 36,294,479 (GRCm39) |
I366T |
probably benign |
Het |
| Gtf2ird2 |
A |
T |
5: 134,245,161 (GRCm39) |
Y473F |
probably damaging |
Het |
| Ikzf1 |
T |
A |
11: 11,719,485 (GRCm39) |
D397E |
possibly damaging |
Het |
| Ints15 |
C |
G |
5: 143,300,795 (GRCm39) |
E19Q |
probably benign |
Het |
| Intu |
C |
T |
3: 40,637,789 (GRCm39) |
A425V |
possibly damaging |
Het |
| Irag1 |
A |
T |
7: 110,477,347 (GRCm39) |
|
probably null |
Het |
| Jakmip1 |
G |
A |
5: 37,343,084 (GRCm39) |
|
probably null |
Het |
| Lif |
C |
A |
11: 4,219,225 (GRCm39) |
P168Q |
possibly damaging |
Het |
| Myh11 |
A |
C |
16: 14,048,580 (GRCm39) |
S576A |
probably benign |
Het |
| Neb |
A |
G |
2: 52,041,425 (GRCm39) |
V6559A |
probably damaging |
Het |
| Nphs1 |
A |
G |
7: 30,162,625 (GRCm39) |
N368S |
probably damaging |
Het |
| Npsr1 |
G |
A |
9: 24,224,525 (GRCm39) |
V148I |
probably benign |
Het |
| Or51f1 |
C |
A |
7: 102,505,725 (GRCm39) |
G255* |
probably null |
Het |
| Or52ab4 |
T |
C |
7: 102,987,573 (GRCm39) |
F104S |
probably damaging |
Het |
| Or56a5 |
T |
A |
7: 104,792,832 (GRCm39) |
I223F |
probably damaging |
Het |
| Or5b111 |
A |
T |
19: 13,291,502 (GRCm39) |
L49Q |
probably damaging |
Het |
| Or7e166 |
C |
T |
9: 19,624,885 (GRCm39) |
T254I |
probably damaging |
Het |
| Patz1 |
T |
C |
11: 3,241,856 (GRCm39) |
C415R |
probably damaging |
Het |
| Pcdha9 |
A |
T |
18: 37,131,546 (GRCm39) |
N205I |
possibly damaging |
Het |
| Pcdhga12 |
A |
T |
18: 37,899,711 (GRCm39) |
E181V |
probably benign |
Het |
| Pcnx1 |
T |
C |
12: 82,018,158 (GRCm39) |
Y1333H |
probably damaging |
Het |
| Phf7 |
A |
T |
14: 30,970,106 (GRCm39) |
|
probably benign |
Het |
| Pomc |
T |
G |
12: 4,010,298 (GRCm39) |
S180A |
probably benign |
Het |
| Ppp1r7 |
T |
A |
1: 93,288,536 (GRCm39) |
|
probably null |
Het |
| Prrc2c |
A |
T |
1: 162,536,478 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GGC |
GGCCACGGCCGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Semp2l1 |
C |
T |
1: 32,585,685 (GRCm39) |
R75Q |
probably benign |
Het |
| Senp1 |
T |
C |
15: 97,940,782 (GRCm39) |
K664E |
probably damaging |
Het |
| Skint7 |
A |
G |
4: 111,839,198 (GRCm39) |
N164S |
possibly damaging |
Het |
| Smg1 |
C |
A |
7: 117,751,900 (GRCm39) |
R2775M |
probably null |
Het |
| Snrnp27 |
C |
T |
6: 86,653,226 (GRCm39) |
V131M |
probably damaging |
Het |
| Spire1 |
C |
A |
18: 67,629,686 (GRCm39) |
R357L |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,434,071 (GRCm39) |
V959I |
probably damaging |
Het |
| St6galnac2 |
T |
C |
11: 116,568,458 (GRCm39) |
H335R |
probably damaging |
Het |
| Stard13 |
C |
T |
5: 150,984,267 (GRCm39) |
R623H |
probably damaging |
Het |
| Syde1 |
T |
A |
10: 78,424,683 (GRCm39) |
E383V |
probably damaging |
Het |
| Taf10 |
A |
G |
7: 105,393,524 (GRCm39) |
M1T |
probably null |
Het |
| Traf3ip3 |
A |
G |
1: 192,869,415 (GRCm39) |
C257R |
probably damaging |
Het |
| Trpm8 |
G |
A |
1: 88,276,061 (GRCm39) |
|
probably benign |
Het |
| Veph1 |
A |
G |
3: 66,171,301 (GRCm39) |
|
probably null |
Het |
| Vmn1r169 |
A |
T |
7: 23,276,640 (GRCm39) |
T11S |
possibly damaging |
Het |
| Wdhd1 |
A |
T |
14: 47,482,752 (GRCm39) |
S961T |
probably benign |
Het |
| Zfp773 |
T |
C |
7: 7,135,469 (GRCm39) |
T376A |
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 |
|
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 |
|
|
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'- AAGGCTGACCCTCAAACTAGG -3'
(R):5'- CATGGGGACTATTGGCCTTCTG -3'
Sequencing Primer
(F):5'- CAAACTAGGGGCATTTCTACATCTC -3'
(R):5'- GTAATAAGTAGTCGTTTGGGGTAAAC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation