Incidental Mutation 'R5595:Ankrd44'
ID |
437748 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd44
|
Ensembl Gene |
ENSMUSG00000052331 |
Gene Name |
ankyrin repeat domain 44 |
Synonyms |
E130014H08Rik |
MMRRC Submission |
043147-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R5595 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
54684499-54965546 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 54801506 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 274
(T274A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137616
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044359]
[ENSMUST00000177679]
[ENSMUST00000178226]
[ENSMUST00000179030]
|
AlphaFold |
B2RXR6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044359
AA Change: T274A
PolyPhen 2
Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000040327 Gene: ENSMUSG00000052331 AA Change: T274A
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 damaging
Transcript: ENSMUST00000178226
AA Change: T71A
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000136802 Gene: ENSMUSG00000052331 AA Change: T71A
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 |
noncoding transcript
Transcript: ENSMUST00000180189
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000179030
AA Change: T274A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000137616 Gene: ENSMUSG00000052331 AA Change: T274A
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188243
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
T |
C |
16: 4,682,143 (GRCm39) |
F991S |
probably benign |
Het |
4931406B18Rik |
A |
G |
7: 43,147,296 (GRCm39) |
I218T |
possibly damaging |
Het |
9930111J21Rik2 |
C |
T |
11: 48,910,538 (GRCm39) |
A632T |
possibly damaging |
Het |
Akt1 |
A |
T |
12: 112,625,050 (GRCm39) |
L166Q |
probably null |
Het |
Alpk2 |
A |
T |
18: 65,399,319 (GRCm39) |
D2086E |
probably damaging |
Het |
Ankrd11 |
A |
T |
8: 123,621,043 (GRCm39) |
C915* |
probably null |
Het |
Arhgef2 |
A |
G |
3: 88,550,283 (GRCm39) |
T663A |
probably benign |
Het |
Btbd16 |
G |
A |
7: 130,425,033 (GRCm39) |
M471I |
possibly damaging |
Het |
Btbd16 |
C |
A |
7: 130,425,034 (GRCm39) |
Q472K |
probably damaging |
Het |
Cdc37 |
G |
A |
9: 21,054,509 (GRCm39) |
R39C |
probably damaging |
Het |
Cnnm1 |
A |
G |
19: 43,453,596 (GRCm39) |
N537S |
possibly damaging |
Het |
Cop1 |
T |
A |
1: 159,077,643 (GRCm39) |
D159E |
probably benign |
Het |
Crtac1 |
C |
T |
19: 42,402,390 (GRCm39) |
V73I |
probably benign |
Het |
Cryz |
T |
A |
3: 154,312,155 (GRCm39) |
V84E |
probably damaging |
Het |
Ctnnd2 |
C |
T |
15: 30,669,689 (GRCm39) |
L433F |
probably benign |
Het |
Ctsq |
C |
A |
13: 61,184,874 (GRCm39) |
D271Y |
probably benign |
Het |
Cyp3a25 |
A |
C |
5: 145,931,673 (GRCm39) |
|
probably null |
Het |
Dmbt1 |
G |
C |
7: 130,655,797 (GRCm39) |
W412C |
probably benign |
Het |
Eif4e1b |
G |
A |
13: 54,934,529 (GRCm39) |
V131I |
possibly damaging |
Het |
Epha1 |
A |
G |
6: 42,341,568 (GRCm39) |
V494A |
possibly damaging |
Het |
Fbxl4 |
T |
C |
4: 22,433,641 (GRCm39) |
S593P |
probably damaging |
Het |
Fbxo41 |
G |
A |
6: 85,456,883 (GRCm39) |
P429S |
probably benign |
Het |
Fem1al |
T |
C |
11: 29,774,288 (GRCm39) |
N390D |
probably benign |
Het |
Fgfr3 |
G |
A |
5: 33,887,347 (GRCm39) |
C204Y |
probably damaging |
Het |
Gbf1 |
T |
C |
19: 46,272,861 (GRCm39) |
V1665A |
possibly damaging |
Het |
Htt |
T |
A |
5: 35,062,741 (GRCm39) |
V2825E |
probably damaging |
Het |
Irs1 |
A |
T |
1: 82,267,646 (GRCm39) |
V190E |
probably damaging |
Het |
Kics2 |
T |
C |
10: 121,576,052 (GRCm39) |
|
probably benign |
Het |
Klk1 |
T |
C |
7: 43,878,161 (GRCm39) |
|
probably null |
Het |
Kmt2d |
T |
C |
15: 98,747,905 (GRCm39) |
|
probably benign |
Het |
Meox1 |
T |
C |
11: 101,770,169 (GRCm39) |
E186G |
probably damaging |
Het |
Micu2 |
G |
A |
14: 58,209,201 (GRCm39) |
R86W |
probably damaging |
Het |
Mrgprb1 |
A |
T |
7: 48,097,432 (GRCm39) |
I160K |
probably damaging |
Het |
Nckap1l |
T |
A |
15: 103,384,085 (GRCm39) |
M561K |
possibly damaging |
Het |
Or4c104 |
A |
T |
2: 88,586,749 (GRCm39) |
I90N |
probably damaging |
Het |
Or52s6 |
A |
T |
7: 103,091,635 (GRCm39) |
S232T |
probably damaging |
Het |
Or56b35 |
A |
T |
7: 104,963,213 (GRCm39) |
M1L |
probably benign |
Het |
Otoa |
T |
A |
7: 120,721,200 (GRCm39) |
L405H |
probably damaging |
Het |
Phyhip |
A |
T |
14: 70,704,314 (GRCm39) |
M178L |
probably benign |
Het |
Pkd1l3 |
A |
T |
8: 110,382,152 (GRCm39) |
N1630I |
probably damaging |
Het |
Plek2 |
T |
A |
12: 78,940,883 (GRCm39) |
T247S |
probably benign |
Het |
Rhbdl3 |
T |
C |
11: 80,228,409 (GRCm39) |
V293A |
probably damaging |
Het |
Rock2 |
T |
A |
12: 16,992,810 (GRCm39) |
F193Y |
probably damaging |
Het |
Scn3a |
C |
T |
2: 65,291,057 (GRCm39) |
M1896I |
probably benign |
Het |
Snrnp200 |
T |
C |
2: 127,067,933 (GRCm39) |
V810A |
probably damaging |
Het |
Taar4 |
G |
A |
10: 23,836,639 (GRCm39) |
S83N |
probably damaging |
Het |
Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
Tec |
T |
A |
5: 72,926,087 (GRCm39) |
I322F |
possibly damaging |
Het |
Teddm2 |
T |
C |
1: 153,726,146 (GRCm39) |
I190V |
probably benign |
Het |
Tmem117 |
A |
G |
15: 94,992,765 (GRCm39) |
E475G |
probably damaging |
Het |
Trip10 |
T |
A |
17: 57,569,460 (GRCm39) |
Y495N |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,638,695 (GRCm39) |
V4035A |
possibly damaging |
Het |
Utrn |
C |
T |
10: 12,558,062 (GRCm39) |
V1466M |
possibly damaging |
Het |
Vasp |
A |
G |
7: 18,991,816 (GRCm39) |
|
probably benign |
Het |
Vmn1r89 |
A |
T |
7: 12,953,857 (GRCm39) |
M130L |
possibly damaging |
Het |
Vmn2r2 |
A |
T |
3: 64,034,036 (GRCm39) |
D495E |
possibly damaging |
Het |
Zfp213 |
A |
G |
17: 23,780,160 (GRCm39) |
V120A |
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 |
54,774,209 (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 |
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'- TTTCCACAGCATCTCAATCCAG -3'
(R):5'- TGGCTCCAGTGATTTTAATTGCC -3'
Sequencing Primer
(F):5'- CTGTGTGAATCAAAGTGCTTCC -3'
(R):5'- CCAGTGATTTTAATTGCCCTTGTTG -3'
|
Posted On |
2016-10-26 |