Incidental Mutation 'IGL01145:Ankrd44'
| ID |
50349 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ankrd44
|
| Ensembl Gene |
ENSMUSG00000052331 |
| Gene Name |
ankyrin repeat domain 44 |
| Synonyms |
E130014H08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
IGL01145
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
54684499-54965546 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 54801418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044359]
[ENSMUST00000177679]
[ENSMUST00000178226]
[ENSMUST00000179030]
|
| AlphaFold |
B2RXR6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044359
|
| SMART Domains |
Protein: ENSMUSP00000040327
Gene: ENSMUSG00000052331
| 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: ENSMUST00000177679
|
| SMART Domains |
Protein: ENSMUSP00000137216
Gene: ENSMUSG00000052331
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
15 |
44 |
3.23e-4 |
SMART |
|
ANK
|
48 |
77 |
1.12e-3 |
SMART |
|
ANK
|
81 |
110 |
1.65e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177919
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000178226
|
| SMART Domains |
Protein: ENSMUSP00000136802
Gene: ENSMUSG00000052331
| 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 |
noncoding transcript
Transcript: ENSMUST00000178905
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178935
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000179030
|
| SMART Domains |
Protein: ENSMUSP00000137616
Gene: ENSMUSG00000052331
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180189
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180327
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188243
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
C |
7: 78,749,030 (GRCm39) |
D1267A |
probably damaging |
Het |
| Arap3 |
T |
C |
18: 38,122,232 (GRCm39) |
M619V |
probably benign |
Het |
| C8b |
A |
T |
4: 104,637,777 (GRCm39) |
Y83F |
probably benign |
Het |
| Capn15 |
A |
G |
17: 26,182,024 (GRCm39) |
V595A |
probably damaging |
Het |
| Cbx1 |
A |
T |
11: 96,692,392 (GRCm39) |
D93V |
probably benign |
Het |
| Cyp2c66 |
G |
T |
19: 39,159,405 (GRCm39) |
E285D |
probably benign |
Het |
| Dkk4 |
T |
A |
8: 23,115,402 (GRCm39) |
V84D |
probably damaging |
Het |
| Dnah17 |
T |
A |
11: 117,937,999 (GRCm39) |
I3343F |
possibly damaging |
Het |
| Dus3l |
T |
C |
17: 57,074,627 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
A |
C |
4: 58,811,501 (GRCm39) |
D1467E |
probably null |
Het |
| Eif6 |
A |
G |
2: 155,668,355 (GRCm39) |
|
probably benign |
Het |
| Eya3 |
A |
G |
4: 132,437,306 (GRCm39) |
I389V |
probably damaging |
Het |
| Gm5916 |
A |
T |
9: 36,031,998 (GRCm39) |
D95E |
unknown |
Het |
| Gucy2d |
T |
A |
7: 98,099,170 (GRCm39) |
S329T |
probably benign |
Het |
| Hook3 |
C |
T |
8: 26,549,372 (GRCm39) |
M157I |
probably benign |
Het |
| Iapp |
C |
A |
6: 142,249,090 (GRCm39) |
R48S |
probably damaging |
Het |
| Ints11 |
A |
G |
4: 155,969,583 (GRCm39) |
Y153C |
probably damaging |
Het |
| Layn |
G |
A |
9: 50,985,346 (GRCm39) |
T62I |
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,744,631 (GRCm39) |
H876R |
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,317,396 (GRCm39) |
I840T |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,762,658 (GRCm39) |
F796L |
probably benign |
Het |
| Naip1 |
A |
G |
13: 100,545,629 (GRCm39) |
S1300P |
probably benign |
Het |
| Nfat5 |
T |
A |
8: 108,093,847 (GRCm39) |
I602N |
probably damaging |
Het |
| Omt2a |
T |
C |
9: 78,220,238 (GRCm39) |
M64V |
probably benign |
Het |
| Pcnx1 |
T |
C |
12: 82,038,809 (GRCm39) |
S2025P |
probably damaging |
Het |
| Pemt |
A |
G |
11: 59,874,293 (GRCm39) |
L62P |
probably damaging |
Het |
| Polrmt |
A |
G |
10: 79,576,971 (GRCm39) |
V399A |
probably benign |
Het |
| Rasgrp4 |
T |
C |
7: 28,850,898 (GRCm39) |
S77P |
possibly damaging |
Het |
| Rrm2b |
G |
A |
15: 37,944,804 (GRCm39) |
P111L |
probably damaging |
Het |
| Slc10a4-ps |
A |
T |
5: 72,743,547 (GRCm39) |
|
probably null |
Het |
| Thap12 |
A |
G |
7: 98,362,110 (GRCm39) |
*121W |
probably null |
Het |
| Tnik |
A |
G |
3: 28,658,316 (GRCm39) |
|
probably benign |
Het |
| Trio |
G |
A |
15: 27,818,253 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,310,407 (GRCm39) |
E930G |
probably damaging |
Het |
| Zfp335 |
G |
T |
2: 164,749,422 (GRCm39) |
T299K |
probably benign |
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 |
|
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 |
54,774,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5595:Ankrd44
|
UTSW |
1 |
54,801,506 (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 |
|
R8408:Ankrd44
|
UTSW |
1 |
54,762,257 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation