Incidental Mutation 'R7515:Ankrd44'
ID |
582368 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd44
|
Ensembl Gene |
ENSMUSG00000052331 |
Gene Name |
ankyrin repeat domain 44 |
Synonyms |
E130014H08Rik |
MMRRC Submission |
045588-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R7515 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
54684499-54965546 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 54805514 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 182
(Y182C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137616
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044359]
[ENSMUST00000177679]
[ENSMUST00000178226]
[ENSMUST00000179030]
|
AlphaFold |
B2RXR6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044359
AA Change: Y182C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040327 Gene: ENSMUSG00000052331 AA Change: Y182C
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 |
probably benign
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 |
probably damaging
Transcript: ENSMUST00000179030
AA Change: Y182C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000137616 Gene: ENSMUSG00000052331 AA Change: Y182C
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd36 |
A |
T |
11: 5,578,905 (GRCm39) |
E56D |
possibly damaging |
Het |
Anxa3 |
A |
T |
5: 96,986,179 (GRCm39) |
N273Y |
probably damaging |
Het |
Apobec2 |
T |
C |
17: 48,730,015 (GRCm39) |
E217G |
probably damaging |
Het |
Arhgap24 |
A |
G |
5: 102,993,882 (GRCm39) |
|
probably benign |
Het |
Asap2 |
A |
G |
12: 21,279,240 (GRCm39) |
H374R |
possibly damaging |
Het |
Camsap2 |
T |
C |
1: 136,273,108 (GRCm39) |
D23G |
probably damaging |
Het |
Ccr2 |
T |
C |
9: 123,906,197 (GRCm39) |
V159A |
probably damaging |
Het |
Cfap61 |
T |
A |
2: 145,884,645 (GRCm39) |
D614E |
unknown |
Het |
Crb2 |
G |
A |
2: 37,673,412 (GRCm39) |
G103R |
probably damaging |
Het |
Cyp2b9 |
A |
G |
7: 25,898,596 (GRCm39) |
Y317C |
probably damaging |
Het |
Dhx36 |
A |
G |
3: 62,379,508 (GRCm39) |
V860A |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,672,815 (GRCm39) |
D553G |
probably benign |
Het |
Dnah7c |
T |
C |
1: 46,496,450 (GRCm39) |
S112P |
probably benign |
Het |
Dnah9 |
A |
G |
11: 65,732,240 (GRCm39) |
F4222S |
probably benign |
Het |
Ei24 |
T |
C |
9: 36,701,211 (GRCm39) |
D36G |
probably damaging |
Het |
Etv3 |
G |
T |
3: 87,435,363 (GRCm39) |
R78L |
possibly damaging |
Het |
Fbxo34 |
T |
C |
14: 47,767,798 (GRCm39) |
L437P |
possibly damaging |
Het |
Foxn1 |
T |
C |
11: 78,261,970 (GRCm39) |
D133G |
possibly damaging |
Het |
Gabra1 |
T |
A |
11: 42,045,660 (GRCm39) |
D150V |
possibly damaging |
Het |
Gpr158 |
T |
C |
2: 21,373,092 (GRCm39) |
L9P |
probably damaging |
Het |
H2-M10.3 |
G |
A |
17: 36,677,435 (GRCm39) |
T281I |
probably damaging |
Het |
Il18r1 |
T |
C |
1: 40,537,830 (GRCm39) |
S532P |
not run |
Het |
Itpr2 |
T |
C |
6: 146,228,608 (GRCm39) |
D1329G |
probably damaging |
Het |
Jakmip2 |
A |
T |
18: 43,704,191 (GRCm39) |
N384K |
probably benign |
Het |
Kdsr |
A |
G |
1: 106,662,290 (GRCm39) |
V255A |
possibly damaging |
Het |
Kifc1 |
A |
G |
17: 34,103,777 (GRCm39) |
L182P |
probably damaging |
Het |
Lgals8 |
G |
A |
13: 12,463,343 (GRCm39) |
R198* |
probably null |
Het |
Lrrk1 |
A |
T |
7: 65,912,310 (GRCm39) |
M1750K |
probably benign |
Het |
Lrsam1 |
A |
G |
2: 32,830,251 (GRCm39) |
|
probably null |
Het |
Lztr1 |
C |
T |
16: 17,327,525 (GRCm39) |
A76V |
possibly damaging |
Het |
Mcc |
G |
T |
18: 44,626,499 (GRCm39) |
H366N |
probably benign |
Het |
Mif4gd |
A |
G |
11: 115,499,222 (GRCm39) |
V220A |
possibly damaging |
Het |
Mtmr12 |
T |
A |
15: 12,270,037 (GRCm39) |
F708L |
probably damaging |
Het |
Muc16 |
A |
T |
9: 18,550,958 (GRCm39) |
W5112R |
probably benign |
Het |
Ndrg2 |
A |
G |
14: 52,146,380 (GRCm39) |
I140T |
probably benign |
Het |
Nid2 |
C |
A |
14: 19,841,635 (GRCm39) |
Q887K |
probably benign |
Het |
Nop16 |
A |
T |
13: 54,737,550 (GRCm39) |
S48T |
possibly damaging |
Het |
Nrap |
G |
A |
19: 56,354,859 (GRCm39) |
T489I |
possibly damaging |
Het |
Oas1e |
C |
T |
5: 120,929,951 (GRCm39) |
G189D |
probably damaging |
Het |
Or4a39 |
A |
G |
2: 89,237,250 (GRCm39) |
Y58H |
possibly damaging |
Het |
Or7g34 |
A |
T |
9: 19,477,949 (GRCm39) |
C244S |
probably damaging |
Het |
Pcdha5 |
A |
T |
18: 37,095,171 (GRCm39) |
D560V |
probably damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Phldb2 |
C |
T |
16: 45,594,603 (GRCm39) |
D901N |
possibly damaging |
Het |
Piezo1 |
T |
C |
8: 123,212,035 (GRCm39) |
H2058R |
|
Het |
Ptgis |
T |
A |
2: 167,048,758 (GRCm39) |
K419N |
possibly damaging |
Het |
Ptprz1 |
T |
C |
6: 23,022,266 (GRCm39) |
F1714L |
probably damaging |
Het |
Rasa2 |
T |
C |
9: 96,434,353 (GRCm39) |
|
probably null |
Het |
Recql |
C |
T |
6: 142,320,611 (GRCm39) |
D146N |
probably damaging |
Het |
Rnf6 |
T |
G |
5: 146,148,602 (GRCm39) |
S139R |
probably damaging |
Het |
Rock1 |
A |
G |
18: 10,067,631 (GRCm39) |
S1301P |
probably damaging |
Het |
Safb2 |
A |
G |
17: 56,889,982 (GRCm39) |
|
probably null |
Het |
Setd5 |
T |
A |
6: 113,087,850 (GRCm39) |
I137N |
probably damaging |
Het |
Sf3b6 |
G |
A |
12: 4,870,619 (GRCm39) |
R19Q |
probably damaging |
Het |
Slc15a5 |
T |
A |
6: 138,020,496 (GRCm39) |
H279L |
possibly damaging |
Het |
Slc26a9 |
A |
G |
1: 131,681,711 (GRCm39) |
T175A |
probably damaging |
Het |
Sspo |
A |
T |
6: 48,470,820 (GRCm39) |
N36I |
probably damaging |
Het |
Supv3l1 |
A |
C |
10: 62,268,090 (GRCm39) |
F585C |
probably damaging |
Het |
Tnrc6c |
G |
T |
11: 117,632,507 (GRCm39) |
V1070L |
probably benign |
Het |
Vmn2r53 |
T |
A |
7: 12,315,846 (GRCm39) |
M658L |
probably benign |
Het |
Zc3h13 |
A |
G |
14: 75,546,349 (GRCm39) |
D150G |
unknown |
Het |
Zfp607b |
T |
C |
7: 27,402,921 (GRCm39) |
V459A |
probably benign |
Het |
Zfp653 |
T |
C |
9: 21,982,427 (GRCm39) |
R71G |
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 |
R5306:Ankrd44
|
UTSW |
1 |
54,965,362 (GRCm39) |
utr 5 prime |
probably benign |
|
R5595:Ankrd44
|
UTSW |
1 |
54,801,506 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
|
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'- TCCTACATGGTCAACAAGAGGC -3'
(R):5'- GCTAGCCTGTCTACCTGGTATG -3'
Sequencing Primer
(F):5'- CCCATGGCATATGTAGCCAAGG -3'
(R):5'- ACCTGGTATGAATCCTTGAGC -3'
|
Posted On |
2019-10-17 |