Incidental Mutation 'R5306:Ankrd44'
ID |
478094 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd44
|
Ensembl Gene |
ENSMUSG00000052331 |
Gene Name |
ankyrin repeat domain 44 |
Synonyms |
E130014H08Rik |
MMRRC Submission |
042889-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R5306 (G1)
|
Quality Score |
65 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
54684499-54965546 bp(-) (GRCm39) |
Type of Mutation |
utr 5 prime |
DNA Base Change (assembly) |
G to A
at 54965362 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137616
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044359]
[ENSMUST00000179030]
|
AlphaFold |
B2RXR6 |
Predicted Effect |
probably benign
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 |
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: ENSMUST00000180327
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
97% (64/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam29 |
T |
A |
8: 56,324,792 (GRCm39) |
D554V |
probably damaging |
Het |
Api5 |
A |
T |
2: 94,253,811 (GRCm39) |
C297* |
probably null |
Het |
Asb14 |
G |
A |
14: 26,633,866 (GRCm39) |
C357Y |
probably damaging |
Het |
Brd10 |
A |
G |
19: 29,707,230 (GRCm39) |
|
probably benign |
Het |
Brdt |
T |
A |
5: 107,493,010 (GRCm39) |
D112E |
probably damaging |
Het |
Capsl |
C |
A |
15: 9,457,876 (GRCm39) |
Q32K |
probably benign |
Het |
Ccdc106 |
A |
G |
7: 5,061,096 (GRCm39) |
D81G |
probably damaging |
Het |
Ccdc121rt3 |
T |
C |
5: 112,502,910 (GRCm39) |
R265G |
probably benign |
Het |
Cep104 |
C |
A |
4: 154,090,699 (GRCm39) |
T884K |
probably benign |
Het |
Cmbl |
T |
C |
15: 31,582,215 (GRCm39) |
Y71H |
probably damaging |
Het |
Crybg3 |
A |
T |
16: 59,380,356 (GRCm39) |
|
probably benign |
Het |
Dynlt1c |
T |
C |
17: 6,869,210 (GRCm39) |
M1T |
probably null |
Het |
Erbb2 |
T |
C |
11: 98,319,032 (GRCm39) |
S574P |
probably benign |
Het |
Exosc10 |
T |
C |
4: 148,646,849 (GRCm39) |
V153A |
probably benign |
Het |
Faxc |
G |
T |
4: 21,931,557 (GRCm39) |
|
probably benign |
Het |
Fcgbp |
A |
G |
7: 27,791,243 (GRCm39) |
T835A |
probably damaging |
Het |
Fmo5 |
G |
T |
3: 97,549,076 (GRCm39) |
M241I |
probably benign |
Het |
Gabra1 |
A |
C |
11: 42,024,379 (GRCm39) |
I432S |
probably benign |
Het |
Gfap |
A |
G |
11: 102,786,574 (GRCm39) |
|
probably null |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gm12185 |
T |
A |
11: 48,806,382 (GRCm39) |
M270L |
probably benign |
Het |
Gm14443 |
T |
C |
2: 175,011,372 (GRCm39) |
N358S |
possibly damaging |
Het |
Gpr3 |
C |
T |
4: 132,938,490 (GRCm39) |
V61M |
probably damaging |
Het |
Herc2 |
C |
T |
7: 55,834,709 (GRCm39) |
T3229M |
probably damaging |
Het |
Ifit3 |
A |
G |
19: 34,565,207 (GRCm39) |
Y251C |
probably damaging |
Het |
Inf2 |
G |
A |
12: 112,567,987 (GRCm39) |
V180I |
probably benign |
Het |
Ints11 |
T |
C |
4: 155,959,665 (GRCm39) |
Y91H |
probably damaging |
Het |
Ints4 |
A |
C |
7: 97,158,885 (GRCm39) |
D419A |
probably damaging |
Het |
Kmt2e |
T |
C |
5: 23,704,331 (GRCm39) |
S1175P |
probably damaging |
Het |
Mki67 |
A |
T |
7: 135,315,730 (GRCm39) |
V44E |
probably damaging |
Het |
Mrgprb13 |
A |
T |
7: 47,961,940 (GRCm39) |
|
noncoding transcript |
Het |
Myh2 |
T |
C |
11: 67,077,382 (GRCm39) |
L839P |
probably damaging |
Het |
Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
Or4l1 |
A |
G |
14: 50,167,007 (GRCm39) |
|
probably benign |
Het |
Or6c70 |
A |
C |
10: 129,709,810 (GRCm39) |
I272R |
probably damaging |
Het |
Pced1a |
T |
A |
2: 130,261,091 (GRCm39) |
H422L |
probably benign |
Het |
Plpp1 |
G |
T |
13: 112,988,089 (GRCm39) |
|
probably null |
Het |
Plxna4 |
T |
C |
6: 32,183,056 (GRCm39) |
Y949C |
probably damaging |
Het |
Polg2 |
G |
A |
11: 106,669,796 (GRCm39) |
T158I |
probably damaging |
Het |
Prss38 |
A |
T |
11: 59,263,821 (GRCm39) |
I297K |
probably benign |
Het |
Psph |
A |
G |
5: 129,846,431 (GRCm39) |
L98P |
probably damaging |
Het |
Rab11b |
G |
A |
17: 33,979,243 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
CGGCGGC |
CGGCGGCGGGGGCGGC |
7: 97,229,136 (GRCm39) |
|
probably benign |
Het |
Serpine3 |
G |
A |
14: 62,908,382 (GRCm39) |
A137T |
probably damaging |
Het |
Sh3bp4 |
T |
C |
1: 89,071,997 (GRCm39) |
F282L |
probably damaging |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Skic3 |
G |
A |
13: 76,295,886 (GRCm39) |
E1050K |
possibly damaging |
Het |
Slco2b1 |
T |
A |
7: 99,338,198 (GRCm39) |
Y109F |
possibly damaging |
Het |
Slfn10-ps |
T |
A |
11: 82,926,355 (GRCm39) |
|
noncoding transcript |
Het |
Smc5 |
A |
G |
19: 23,237,009 (GRCm39) |
|
probably null |
Het |
Smyd4 |
A |
G |
11: 75,292,984 (GRCm39) |
N638S |
probably benign |
Het |
Stxbp5 |
T |
C |
10: 9,675,735 (GRCm39) |
E628G |
probably damaging |
Het |
Tmem236 |
A |
T |
2: 14,223,975 (GRCm39) |
K255* |
probably null |
Het |
Ttc29 |
T |
A |
8: 78,978,539 (GRCm39) |
|
probably null |
Het |
Tyr |
A |
G |
7: 87,087,222 (GRCm39) |
I430T |
probably damaging |
Het |
Uckl1 |
A |
G |
2: 181,216,160 (GRCm39) |
|
probably null |
Het |
Vmn2r52 |
A |
C |
7: 9,904,672 (GRCm39) |
I389R |
possibly damaging |
Het |
Wdr62 |
A |
T |
7: 29,964,688 (GRCm39) |
F352Y |
possibly damaging |
Het |
Wdr70 |
T |
C |
15: 7,953,754 (GRCm39) |
D379G |
probably benign |
Het |
Zfp408 |
T |
A |
2: 91,476,690 (GRCm39) |
M155L |
probably benign |
Het |
Zfp459 |
T |
A |
13: 67,561,249 (GRCm39) |
Q66H |
probably damaging |
Het |
Zfp870 |
C |
A |
17: 33,102,627 (GRCm39) |
G234V |
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 |
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 |
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'- AAGATAGCCTATTGCACGGGAG -3'
(R):5'- CACTTCCTGTATAAAGGCGGG -3'
Sequencing Primer
(F):5'- TGACTGCTCCTGAGTGCAC -3'
(R):5'- TGTATAAAGGCGGGCGGGC -3'
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Posted On |
2017-05-23 |