Incidental Mutation 'R5053:Ankrd44'
| ID |
394717 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd44
|
| Ensembl Gene |
ENSMUSG00000052331 |
| Gene Name |
ankyrin repeat domain 44 |
| Synonyms |
E130014H08Rik |
| MMRRC Submission |
042643-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R5053 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
54684499-54965546 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 54774248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 200
(L200*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136802
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044359]
[ENSMUST00000178226]
[ENSMUST00000179030]
|
| AlphaFold |
B2RXR6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044359
AA Change: L403*
|
| SMART Domains |
Protein: ENSMUSP00000040327
Gene: ENSMUSG00000052331
AA Change: L403*
| 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 null
Transcript: ENSMUST00000178226
AA Change: L200*
|
| SMART Domains |
Protein: ENSMUSP00000136802
Gene: ENSMUSG00000052331
AA Change: L200*
| 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: ENSMUST00000178685
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178935
|
| Predicted Effect |
probably benign
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: ENSMUST00000188243
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190007
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191996
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.3%
- 10x: 95.9%
- 20x: 90.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvrl1 |
A |
T |
15: 101,035,250 (GRCm39) |
I259F |
probably damaging |
Het |
| Adgrf2 |
A |
G |
17: 43,021,334 (GRCm39) |
S497P |
probably damaging |
Het |
| Adsl |
T |
C |
15: 80,844,651 (GRCm39) |
C180R |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,614,349 (GRCm39) |
I448T |
possibly damaging |
Het |
| Alg9 |
G |
T |
9: 50,699,472 (GRCm39) |
G200W |
probably damaging |
Het |
| Amhr2 |
G |
A |
15: 102,355,693 (GRCm39) |
V213I |
probably damaging |
Het |
| As3mt |
A |
G |
19: 46,697,493 (GRCm39) |
Y87C |
probably damaging |
Het |
| Bcl11a |
C |
A |
11: 24,114,068 (GRCm39) |
F470L |
probably benign |
Het |
| Cacna2d2 |
A |
T |
9: 107,392,063 (GRCm39) |
Y468F |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,804,848 (GRCm39) |
D71G |
possibly damaging |
Het |
| Clca4b |
T |
C |
3: 144,616,882 (GRCm39) |
T923A |
probably benign |
Het |
| Clec16a |
T |
C |
16: 10,394,461 (GRCm39) |
L273P |
probably damaging |
Het |
| Comtd1 |
T |
C |
14: 21,897,764 (GRCm39) |
D123G |
probably damaging |
Het |
| Cpa5 |
A |
T |
6: 30,623,271 (GRCm39) |
E144V |
probably damaging |
Het |
| Cyp2c37 |
G |
A |
19: 39,990,331 (GRCm39) |
S343N |
probably benign |
Het |
| Dennd6a |
C |
A |
14: 26,329,738 (GRCm39) |
T103K |
probably damaging |
Het |
| Ect2l |
A |
G |
10: 18,016,093 (GRCm39) |
L733P |
probably damaging |
Het |
| Erg |
T |
A |
16: 95,325,393 (GRCm39) |
H11L |
probably benign |
Het |
| Ero1b |
T |
C |
13: 12,614,795 (GRCm39) |
L253P |
probably damaging |
Het |
| Etfbkmt |
T |
A |
6: 149,048,766 (GRCm39) |
L135* |
probably null |
Het |
| Frmd4a |
A |
T |
2: 4,608,732 (GRCm39) |
T867S |
probably damaging |
Het |
| Gm815 |
C |
T |
19: 26,863,813 (GRCm39) |
A18V |
unknown |
Het |
| Gna12 |
C |
A |
5: 140,746,482 (GRCm39) |
R321L |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,377,608 (GRCm39) |
K3458M |
possibly damaging |
Het |
| Irs1 |
A |
G |
1: 82,264,643 (GRCm39) |
L1191P |
probably benign |
Het |
| Kcp |
G |
T |
6: 29,496,957 (GRCm39) |
Q551K |
probably benign |
Het |
| Klhl11 |
C |
T |
11: 100,363,026 (GRCm39) |
V177M |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Llcfc1 |
A |
G |
6: 41,662,269 (GRCm39) |
H91R |
possibly damaging |
Het |
| Lmnb2 |
A |
T |
10: 80,740,489 (GRCm39) |
M223K |
probably damaging |
Het |
| Mbd6 |
C |
T |
10: 127,122,310 (GRCm39) |
V173I |
probably benign |
Het |
| Mme |
T |
A |
3: 63,272,270 (GRCm39) |
V623E |
probably damaging |
Het |
| Ndc1 |
T |
C |
4: 107,231,415 (GRCm39) |
S119P |
probably damaging |
Het |
| Nfs1 |
A |
C |
2: 155,968,318 (GRCm39) |
C383G |
probably damaging |
Het |
| Nphp4 |
A |
G |
4: 152,628,919 (GRCm39) |
|
probably null |
Het |
| Oca2 |
C |
A |
7: 55,973,328 (GRCm39) |
Q411K |
probably benign |
Het |
| Or10ab4 |
A |
G |
7: 107,654,741 (GRCm39) |
H184R |
probably benign |
Het |
| Or11h23 |
T |
A |
14: 50,947,968 (GRCm39) |
Y60* |
probably null |
Het |
| Or1ad1 |
G |
A |
11: 50,876,137 (GRCm39) |
G203D |
probably damaging |
Het |
| Or4c15 |
C |
A |
2: 88,760,597 (GRCm39) |
V21F |
probably benign |
Het |
| Or8k25 |
A |
G |
2: 86,243,682 (GRCm39) |
F238S |
probably damaging |
Het |
| Pcdh7 |
A |
T |
5: 57,878,943 (GRCm39) |
T493S |
probably damaging |
Het |
| Phf20 |
T |
C |
2: 156,115,782 (GRCm39) |
S368P |
probably benign |
Het |
| Pla2g2e |
T |
G |
4: 138,607,686 (GRCm39) |
V22G |
possibly damaging |
Het |
| Plxna1 |
A |
T |
6: 89,299,442 (GRCm39) |
H1736Q |
probably damaging |
Het |
| Prlr |
C |
A |
15: 10,325,471 (GRCm39) |
Q215K |
probably benign |
Het |
| Prpf6 |
T |
C |
2: 181,291,246 (GRCm39) |
V687A |
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,399,063 (GRCm39) |
T1951S |
probably damaging |
Het |
| Sec31a |
G |
T |
5: 100,541,073 (GRCm39) |
Q345K |
possibly damaging |
Het |
| Serpina3k |
T |
C |
12: 104,309,473 (GRCm39) |
|
probably null |
Het |
| Sertad3 |
T |
A |
7: 27,175,947 (GRCm39) |
V127E |
probably benign |
Het |
| Sf3b1 |
A |
T |
1: 55,036,336 (GRCm39) |
N912K |
probably benign |
Het |
| Shq1 |
A |
G |
6: 100,632,220 (GRCm39) |
L202P |
probably damaging |
Het |
| Sp8 |
C |
T |
12: 118,813,339 (GRCm39) |
T398M |
probably damaging |
Het |
| Tmem150c |
A |
T |
5: 100,231,599 (GRCm39) |
D125E |
probably benign |
Het |
| Trim3 |
G |
T |
7: 105,266,968 (GRCm39) |
D470E |
probably damaging |
Het |
| Ubap1 |
T |
A |
4: 41,387,315 (GRCm39) |
C88* |
probably null |
Het |
| Unc79 |
T |
A |
12: 103,071,007 (GRCm39) |
D1124E |
probably damaging |
Het |
| Usf3 |
T |
C |
16: 44,037,550 (GRCm39) |
S677P |
probably benign |
Het |
| Vmn1r76 |
T |
C |
7: 11,664,241 (GRCm39) |
|
probably null |
Het |
| Zfp819 |
C |
T |
7: 43,266,570 (GRCm39) |
T275I |
probably damaging |
Het |
| Zranb2 |
T |
A |
3: 157,246,796 (GRCm39) |
D161E |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTTCACAGGCAATTCATGTC -3'
(R):5'- AAATGTGGCCGTGGCTTACC -3'
Sequencing Primer
(F):5'- CACAGGCAATTCATGTCAATTAAGAC -3'
(R):5'- TTACCGAGGGCTGAATGC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation