Incidental Mutation 'R8408:Ankrd44'
| ID |
652510 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd44
|
| Ensembl Gene |
ENSMUSG00000052331 |
| Gene Name |
ankyrin repeat domain 44 |
| Synonyms |
E130014H08Rik |
| MMRRC Submission |
067815-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R8408 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
54684499-54965546 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 54762257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 522
(D522E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044359]
[ENSMUST00000178226]
[ENSMUST00000179030]
|
| AlphaFold |
B2RXR6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044359
AA Change: D540E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000040327
Gene: ENSMUSG00000052331
AA Change: D540E
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
7 |
36 |
2.55e2 |
SMART |
|
ANK
|
40 |
69 |
3.23e-4 |
SMART |
|
ANK
|
73 |
102 |
1.12e-3 |
SMART |
|
ANK
|
106 |
135 |
1.65e-1 |
SMART |
|
ANK
|
139 |
168 |
1.6e-8 |
SMART |
|
ANK
|
172 |
201 |
4.97e-5 |
SMART |
|
ANK
|
205 |
234 |
1.1e-6 |
SMART |
|
ANK
|
238 |
267 |
9.7e-8 |
SMART |
|
ANK
|
271 |
301 |
1.11e-2 |
SMART |
|
ANK
|
305 |
334 |
9.35e-1 |
SMART |
|
ANK
|
338 |
367 |
2.02e-5 |
SMART |
|
ANK
|
371 |
400 |
5.98e1 |
SMART |
|
ANK
|
422 |
451 |
7.13e-6 |
SMART |
|
ANK
|
455 |
484 |
1.18e-6 |
SMART |
|
ANK
|
488 |
545 |
1.17e2 |
SMART |
|
ANK
|
549 |
579 |
3.31e-1 |
SMART |
|
ANK
|
584 |
613 |
3.91e-3 |
SMART |
|
ANK
|
617 |
646 |
1.43e-5 |
SMART |
|
ANK
|
651 |
680 |
2.73e-2 |
SMART |
|
ANK
|
687 |
716 |
5.41e-6 |
SMART |
|
ANK
|
720 |
749 |
5.53e-3 |
SMART |
|
ANK
|
753 |
785 |
1.52e0 |
SMART |
|
ANK
|
789 |
819 |
9.27e-5 |
SMART |
|
ANK
|
821 |
851 |
1.52e0 |
SMART |
|
ANK
|
856 |
885 |
6.02e-4 |
SMART |
|
ANK
|
889 |
919 |
3.08e-1 |
SMART |
|
ANK
|
923 |
955 |
3.36e-2 |
SMART |
|
ANK
|
959 |
988 |
6.26e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178226
AA Change: D337E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000136802
Gene: ENSMUSG00000052331
AA Change: D337E
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
2 |
31 |
1.1e-6 |
SMART |
|
ANK
|
35 |
64 |
9.7e-8 |
SMART |
|
ANK
|
68 |
98 |
1.11e-2 |
SMART |
|
ANK
|
102 |
131 |
9.35e-1 |
SMART |
|
ANK
|
135 |
164 |
2.02e-5 |
SMART |
|
ANK
|
168 |
197 |
5.98e1 |
SMART |
|
ANK
|
219 |
248 |
7.13e-6 |
SMART |
|
ANK
|
252 |
281 |
1.18e-6 |
SMART |
|
ANK
|
285 |
342 |
1.17e2 |
SMART |
|
ANK
|
346 |
376 |
3.31e-1 |
SMART |
|
ANK
|
381 |
410 |
3.91e-3 |
SMART |
|
ANK
|
414 |
443 |
1.43e-5 |
SMART |
|
ANK
|
448 |
477 |
2.73e-2 |
SMART |
|
ANK
|
484 |
513 |
5.41e-6 |
SMART |
|
ANK
|
517 |
546 |
5.53e-3 |
SMART |
|
ANK
|
550 |
582 |
1.52e0 |
SMART |
|
ANK
|
586 |
616 |
9.27e-5 |
SMART |
|
ANK
|
618 |
648 |
1.52e0 |
SMART |
|
ANK
|
653 |
682 |
6.02e-4 |
SMART |
|
ANK
|
686 |
716 |
3.08e-1 |
SMART |
|
ANK
|
720 |
752 |
3.36e-2 |
SMART |
|
ANK
|
756 |
785 |
6.26e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179030
AA Change: D522E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000137616
Gene: ENSMUSG00000052331
AA Change: D522E
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
7 |
36 |
2.55e2 |
SMART |
|
ANK
|
40 |
69 |
3.23e-4 |
SMART |
|
ANK
|
73 |
102 |
1.12e-3 |
SMART |
|
ANK
|
106 |
135 |
1.65e-1 |
SMART |
|
ANK
|
139 |
168 |
1.6e-8 |
SMART |
|
ANK
|
172 |
201 |
4.97e-5 |
SMART |
|
ANK
|
205 |
234 |
1.1e-6 |
SMART |
|
ANK
|
238 |
267 |
9.7e-8 |
SMART |
|
ANK
|
271 |
301 |
1.11e-2 |
SMART |
|
ANK
|
305 |
334 |
9.35e-1 |
SMART |
|
ANK
|
338 |
367 |
2.02e-5 |
SMART |
|
ANK
|
371 |
400 |
3.26e0 |
SMART |
|
ANK
|
404 |
433 |
7.13e-6 |
SMART |
|
ANK
|
437 |
466 |
1.18e-6 |
SMART |
|
ANK
|
470 |
527 |
1.17e2 |
SMART |
|
ANK
|
531 |
561 |
3.31e-1 |
SMART |
|
ANK
|
566 |
595 |
3.91e-3 |
SMART |
|
ANK
|
599 |
628 |
1.43e-5 |
SMART |
|
ANK
|
633 |
662 |
2.73e-2 |
SMART |
|
ANK
|
669 |
698 |
5.41e-6 |
SMART |
|
ANK
|
702 |
731 |
5.53e-3 |
SMART |
|
ANK
|
735 |
767 |
1.52e0 |
SMART |
|
ANK
|
771 |
801 |
9.27e-5 |
SMART |
|
ANK
|
803 |
833 |
1.52e0 |
SMART |
|
ANK
|
838 |
867 |
6.02e-4 |
SMART |
|
ANK
|
871 |
901 |
3.08e-1 |
SMART |
|
ANK
|
905 |
937 |
3.36e-2 |
SMART |
|
ANK
|
941 |
970 |
6.26e-2 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,236,356 (GRCm39) |
T1236A |
possibly damaging |
Het |
| 9930111J21Rik1 |
A |
T |
11: 48,838,829 (GRCm39) |
M586K |
probably damaging |
Het |
| Adamts4 |
T |
C |
1: 171,080,314 (GRCm39) |
V289A |
possibly damaging |
Het |
| Asb14 |
A |
G |
14: 26,637,067 (GRCm39) |
Y603C |
probably damaging |
Het |
| Bcl7b |
A |
G |
5: 135,197,308 (GRCm39) |
|
probably benign |
Het |
| Cd5 |
T |
C |
19: 10,700,469 (GRCm39) |
K345R |
possibly damaging |
Het |
| Celsr3 |
T |
C |
9: 108,708,988 (GRCm39) |
F1278S |
probably damaging |
Het |
| Cndp1 |
T |
A |
18: 84,650,049 (GRCm39) |
T215S |
possibly damaging |
Het |
| Crygb |
T |
G |
1: 65,119,709 (GRCm39) |
R90S |
probably damaging |
Het |
| Dlg4 |
T |
A |
11: 69,933,078 (GRCm39) |
F555I |
possibly damaging |
Het |
| Dnah3 |
C |
T |
7: 119,551,728 (GRCm39) |
V2864M |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,070,351 (GRCm39) |
E522G |
probably damaging |
Het |
| Ercc4 |
G |
C |
16: 12,948,001 (GRCm39) |
R406P |
probably benign |
Het |
| Foxp1 |
G |
A |
6: 98,922,543 (GRCm39) |
P430S |
unknown |
Het |
| Galnt1 |
A |
G |
18: 24,400,628 (GRCm39) |
T245A |
probably benign |
Het |
| Gnl2 |
T |
A |
4: 124,938,082 (GRCm39) |
N287K |
probably damaging |
Het |
| Jcad |
C |
A |
18: 4,649,402 (GRCm39) |
A91E |
possibly damaging |
Het |
| Kat6a |
G |
A |
8: 23,352,275 (GRCm39) |
V20I |
probably damaging |
Het |
| Kcnb2 |
A |
G |
1: 15,781,777 (GRCm39) |
N883S |
probably damaging |
Het |
| Lrch3 |
A |
T |
16: 32,775,750 (GRCm39) |
R205S |
probably damaging |
Het |
| Lrr1 |
A |
G |
12: 69,215,825 (GRCm39) |
T66A |
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,351,635 (GRCm39) |
I2569F |
unknown |
Het |
| Maip1 |
A |
T |
1: 57,449,102 (GRCm39) |
Q161L |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,047,923 (GRCm39) |
E6699G |
probably benign |
Het |
| Nup205 |
A |
G |
6: 35,202,182 (GRCm39) |
R1305G |
probably damaging |
Het |
| Or1e19 |
T |
A |
11: 73,316,794 (GRCm39) |
N5I |
probably damaging |
Het |
| Or5ac21 |
A |
T |
16: 59,124,418 (GRCm39) |
R301* |
probably null |
Het |
| Pate1 |
G |
A |
9: 35,596,418 (GRCm39) |
R116W |
probably damaging |
Het |
| Pcsk5 |
T |
G |
19: 17,410,809 (GRCm39) |
E1861A |
probably benign |
Het |
| Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Per1 |
A |
T |
11: 68,999,953 (GRCm39) |
D1215V |
possibly damaging |
Het |
| Phactr2 |
A |
G |
10: 13,129,570 (GRCm39) |
S233P |
probably damaging |
Het |
| Pramel28 |
A |
G |
4: 143,692,212 (GRCm39) |
V263A |
probably benign |
Het |
| Rgsl1 |
T |
A |
1: 153,701,435 (GRCm39) |
N340Y |
possibly damaging |
Het |
| Rhot1 |
C |
T |
11: 80,114,786 (GRCm39) |
P65S |
probably damaging |
Het |
| Scrn2 |
T |
C |
11: 96,921,869 (GRCm39) |
L113P |
probably damaging |
Het |
| Sema6a |
T |
C |
18: 47,381,958 (GRCm39) |
K863R |
probably benign |
Het |
| Slc15a1 |
A |
G |
14: 121,715,528 (GRCm39) |
V337A |
possibly damaging |
Het |
| Slc25a1 |
T |
C |
16: 17,743,720 (GRCm39) |
D298G |
probably benign |
Het |
| Slc25a22 |
G |
A |
7: 141,011,737 (GRCm39) |
P168S |
probably benign |
Het |
| Slc29a4 |
A |
T |
5: 142,691,109 (GRCm39) |
|
probably null |
Het |
| Slc35d1 |
T |
C |
4: 103,047,007 (GRCm39) |
T264A |
|
Het |
| Spice1 |
T |
C |
16: 44,205,060 (GRCm39) |
S789P |
probably damaging |
Het |
| Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,224,826 (GRCm39) |
|
probably benign |
Het |
| Tectb |
T |
C |
19: 55,178,099 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,544,810 (GRCm39) |
Y32764F |
probably damaging |
Het |
| Utrn |
T |
G |
10: 12,545,887 (GRCm39) |
S1684R |
possibly damaging |
Het |
| Zic1 |
G |
T |
9: 91,246,847 (GRCm39) |
A75E |
probably damaging |
Het |
| Zswim4 |
A |
G |
8: 84,939,014 (GRCm39) |
V956A |
possibly damaging |
Het |
|
| Other mutations in Ankrd44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00578:Ankrd44
|
APN |
1 |
54,701,806 (GRCm39) |
splice site |
probably benign |
|
|
IGL00839:Ankrd44
|
APN |
1 |
54,706,594 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01145:Ankrd44
|
APN |
1 |
54,801,418 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01380:Ankrd44
|
APN |
1 |
54,766,724 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01415:Ankrd44
|
APN |
1 |
54,792,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01958:Ankrd44
|
APN |
1 |
54,806,125 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02014:Ankrd44
|
APN |
1 |
54,696,779 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02745:Ankrd44
|
APN |
1 |
54,805,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03008:Ankrd44
|
APN |
1 |
54,805,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
wilderness
|
UTSW |
1 |
54,774,193 (GRCm39) |
synonymous |
silent |
|
|
PIT4812001:Ankrd44
|
UTSW |
1 |
54,762,197 (GRCm39) |
nonsense |
probably null |
|
|
R0416:Ankrd44
|
UTSW |
1 |
54,782,498 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0554:Ankrd44
|
UTSW |
1 |
54,802,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0575:Ankrd44
|
UTSW |
1 |
54,801,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1323:Ankrd44
|
UTSW |
1 |
54,805,609 (GRCm39) |
splice site |
probably benign |
|
|
R1605:Ankrd44
|
UTSW |
1 |
54,867,781 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2032:Ankrd44
|
UTSW |
1 |
54,762,168 (GRCm39) |
splice site |
probably null |
|
|
R4458:Ankrd44
|
UTSW |
1 |
54,801,550 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4610:Ankrd44
|
UTSW |
1 |
54,805,907 (GRCm39) |
intron |
probably benign |
|
|
R4727:Ankrd44
|
UTSW |
1 |
54,706,576 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4780:Ankrd44
|
UTSW |
1 |
54,802,916 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4801:Ankrd44
|
UTSW |
1 |
54,801,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4802:Ankrd44
|
UTSW |
1 |
54,801,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4810:Ankrd44
|
UTSW |
1 |
54,774,302 (GRCm39) |
intron |
probably benign |
|
|
R4961:Ankrd44
|
UTSW |
1 |
54,703,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5053:Ankrd44
|
UTSW |
1 |
54,774,248 (GRCm39) |
nonsense |
probably null |
|
|
R5093:Ankrd44
|
UTSW |
1 |
54,802,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5155:Ankrd44
|
UTSW |
1 |
54,817,489 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5248:Ankrd44
|
UTSW |
1 |
54,706,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5306:Ankrd44
|
UTSW |
1 |
54,965,362 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5595:Ankrd44
|
UTSW |
1 |
54,801,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5595:Ankrd44
|
UTSW |
1 |
54,774,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6288:Ankrd44
|
UTSW |
1 |
54,802,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6332:Ankrd44
|
UTSW |
1 |
54,801,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6453:Ankrd44
|
UTSW |
1 |
54,696,863 (GRCm39) |
splice site |
probably null |
|
|
R6610:Ankrd44
|
UTSW |
1 |
54,694,246 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6699:Ankrd44
|
UTSW |
1 |
54,801,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6905:Ankrd44
|
UTSW |
1 |
54,831,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7173:Ankrd44
|
UTSW |
1 |
54,805,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7178:Ankrd44
|
UTSW |
1 |
54,688,599 (GRCm39) |
missense |
|
|
|
R7219:Ankrd44
|
UTSW |
1 |
54,806,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7276:Ankrd44
|
UTSW |
1 |
54,774,239 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7283:Ankrd44
|
UTSW |
1 |
54,768,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7414:Ankrd44
|
UTSW |
1 |
54,706,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7490:Ankrd44
|
UTSW |
1 |
54,687,459 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7501:Ankrd44
|
UTSW |
1 |
54,688,522 (GRCm39) |
missense |
|
|
|
R7515:Ankrd44
|
UTSW |
1 |
54,805,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7527:Ankrd44
|
UTSW |
1 |
54,687,483 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7807:Ankrd44
|
UTSW |
1 |
54,831,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8164:Ankrd44
|
UTSW |
1 |
54,703,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8247:Ankrd44
|
UTSW |
1 |
54,792,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8859:Ankrd44
|
UTSW |
1 |
54,706,680 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8963:Ankrd44
|
UTSW |
1 |
54,801,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8971:Ankrd44
|
UTSW |
1 |
54,692,952 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8987:Ankrd44
|
UTSW |
1 |
54,700,349 (GRCm39) |
nonsense |
probably null |
|
|
R9354:Ankrd44
|
UTSW |
1 |
54,687,438 (GRCm39) |
makesense |
probably null |
|
|
RF021:Ankrd44
|
UTSW |
1 |
54,817,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Ankrd44
|
UTSW |
1 |
54,698,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGTGACTGAACTAGGTGGC -3'
(R):5'- AGCTTTTCCTGCCTTCTAGAAG -3'
Sequencing Primer
(F):5'- CTAGGTGGCGAGGGTGGATAC -3'
(R):5'- TAAAGAGAGCATTGGTGTCCCCC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation