Incidental Mutation 'R4961:Ankrd44'
ID |
381736 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd44
|
Ensembl Gene |
ENSMUSG00000052331 |
Gene Name |
ankyrin repeat domain 44 |
Synonyms |
E130014H08Rik |
MMRRC Submission |
042558-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R4961 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
54684499-54965546 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 54703071 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 482
(D482N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136802
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044359]
[ENSMUST00000178226]
[ENSMUST00000179030]
|
AlphaFold |
B2RXR6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044359
AA Change: D685N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040327 Gene: ENSMUSG00000052331 AA Change: D685N
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: ENSMUST00000177704
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000178226
AA Change: D482N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136802 Gene: ENSMUSG00000052331 AA Change: D482N
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 damaging
Transcript: ENSMUST00000179030
AA Change: D667N
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000137616 Gene: ENSMUSG00000052331 AA Change: D667N
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: ENSMUST00000179242
|
Meta Mutation Damage Score |
0.4671 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.3%
- 20x: 88.3%
|
Validation Efficiency |
95% (62/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110082I17Rik |
T |
C |
5: 139,349,855 (GRCm39) |
K65E |
probably damaging |
Het |
Acp5 |
C |
A |
9: 22,041,233 (GRCm39) |
A65S |
probably benign |
Het |
Adad2 |
G |
A |
8: 120,342,397 (GRCm39) |
R345H |
probably damaging |
Het |
Adamts7 |
G |
T |
9: 90,067,793 (GRCm39) |
G428W |
probably damaging |
Het |
Amy1 |
A |
G |
3: 113,355,498 (GRCm39) |
S326P |
probably damaging |
Het |
Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
Ano8 |
G |
C |
8: 71,935,640 (GRCm39) |
P326R |
probably damaging |
Het |
Arhgef26 |
A |
G |
3: 62,367,046 (GRCm39) |
E793G |
probably damaging |
Het |
Cd9 |
A |
T |
6: 125,440,703 (GRCm39) |
V96E |
probably damaging |
Het |
Cdh9 |
A |
G |
15: 16,850,914 (GRCm39) |
N561S |
probably benign |
Het |
Col16a1 |
G |
A |
4: 129,948,272 (GRCm39) |
|
probably null |
Het |
Cpne7 |
G |
A |
8: 123,860,498 (GRCm39) |
G484R |
probably damaging |
Het |
Dcun1d4 |
A |
T |
5: 73,701,463 (GRCm39) |
K194* |
probably null |
Het |
Dock3 |
A |
G |
9: 106,818,515 (GRCm39) |
V1193A |
probably damaging |
Het |
Dst |
A |
G |
1: 34,007,904 (GRCm39) |
R113G |
possibly damaging |
Het |
Epha5 |
A |
T |
5: 84,381,502 (GRCm39) |
S450T |
probably damaging |
Het |
Gm5581 |
A |
T |
6: 131,144,190 (GRCm39) |
|
noncoding transcript |
Het |
Grhl3 |
A |
G |
4: 135,279,918 (GRCm39) |
Y379H |
probably damaging |
Het |
Herpud1 |
T |
C |
8: 95,117,454 (GRCm39) |
S13P |
probably benign |
Het |
Jam2 |
C |
T |
16: 84,606,435 (GRCm39) |
Q150* |
probably null |
Het |
Jph2 |
C |
G |
2: 163,217,668 (GRCm39) |
R336P |
probably damaging |
Het |
Kansl3 |
T |
A |
1: 36,387,764 (GRCm39) |
|
probably null |
Het |
Kctd1 |
G |
A |
18: 15,195,580 (GRCm39) |
P348S |
probably damaging |
Het |
Klhl30 |
T |
A |
1: 91,285,106 (GRCm39) |
S321T |
possibly damaging |
Het |
Klhl5 |
T |
C |
5: 65,310,033 (GRCm39) |
|
probably benign |
Het |
Letm2 |
T |
C |
8: 26,084,108 (GRCm39) |
H41R |
possibly damaging |
Het |
Ltn1 |
A |
T |
16: 87,194,679 (GRCm39) |
C1407S |
probably benign |
Het |
Map1b |
T |
C |
13: 99,572,161 (GRCm39) |
T187A |
probably damaging |
Het |
Marveld2 |
T |
C |
13: 100,748,431 (GRCm39) |
N216S |
probably benign |
Het |
Matn1 |
A |
G |
4: 130,680,234 (GRCm39) |
Y437C |
probably damaging |
Het |
Oas1h |
T |
C |
5: 121,009,159 (GRCm39) |
Y290H |
probably damaging |
Het |
Ofcc1 |
A |
G |
13: 40,417,035 (GRCm39) |
|
probably null |
Het |
Or2m12 |
C |
A |
16: 19,104,726 (GRCm39) |
G256W |
probably damaging |
Het |
Or4k51 |
A |
T |
2: 111,584,750 (GRCm39) |
D52V |
probably damaging |
Het |
Or8g34 |
A |
G |
9: 39,373,183 (GRCm39) |
Y152C |
probably damaging |
Het |
Otof |
C |
A |
5: 30,540,837 (GRCm39) |
|
probably benign |
Het |
Pcdh15 |
G |
T |
10: 74,215,249 (GRCm39) |
|
probably null |
Het |
Pgk2 |
G |
A |
17: 40,518,412 (GRCm39) |
P339S |
probably damaging |
Het |
Piezo2 |
T |
C |
18: 63,186,032 (GRCm39) |
|
probably null |
Het |
Prex2 |
A |
G |
1: 11,168,705 (GRCm39) |
T234A |
possibly damaging |
Het |
Rasgrf1 |
C |
T |
9: 89,826,922 (GRCm39) |
T177M |
probably benign |
Het |
Rgs1 |
A |
T |
1: 144,124,309 (GRCm39) |
|
probably null |
Het |
Snx25 |
T |
C |
8: 46,521,229 (GRCm39) |
N239S |
probably damaging |
Het |
Spata31d1a |
T |
A |
13: 59,849,716 (GRCm39) |
H804L |
possibly damaging |
Het |
Spon2 |
A |
T |
5: 33,371,896 (GRCm39) |
Y303* |
probably null |
Het |
Spopfm2 |
A |
T |
3: 94,082,841 (GRCm39) |
C323* |
probably null |
Het |
Thrb |
G |
A |
14: 18,011,076 (GRCm38) |
D151N |
probably benign |
Het |
Tns1 |
A |
G |
1: 73,975,074 (GRCm39) |
V1170A |
probably benign |
Het |
Trbv19 |
A |
T |
6: 41,155,706 (GRCm39) |
I26F |
probably damaging |
Het |
Tstd2 |
T |
C |
4: 46,120,467 (GRCm39) |
N311S |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,715,746 (GRCm39) |
|
probably benign |
Het |
Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
Vmn1r185 |
G |
A |
7: 26,310,716 (GRCm39) |
A263V |
probably benign |
Het |
Zfp316 |
T |
C |
5: 143,239,169 (GRCm39) |
H950R |
probably damaging |
Het |
Zfp51 |
A |
G |
17: 21,676,615 (GRCm39) |
K29E |
probably benign |
Het |
Zfp644 |
T |
C |
5: 106,766,081 (GRCm39) |
|
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AATAAGACGCGCACACTGAG -3'
(R):5'- TAGCAGCCGTGAGAAATAACTG -3'
Sequencing Primer
(F):5'- CCCTTTAGTACAGGCTCTGGTG -3'
(R):5'- CACTGTGTTTGAGGCTAC -3'
|
Posted On |
2016-04-27 |