Incidental Mutation 'R4458:Ankrd44'
ID |
329982 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd44
|
Ensembl Gene |
ENSMUSG00000052331 |
Gene Name |
ankyrin repeat domain 44 |
Synonyms |
E130014H08Rik |
MMRRC Submission |
041718-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R4458 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
54684499-54965546 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 54801550 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 56
(I56N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136802
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044359]
[ENSMUST00000177679]
[ENSMUST00000178226]
[ENSMUST00000179030]
|
AlphaFold |
B2RXR6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044359
AA Change: I259N
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000040327 Gene: ENSMUSG00000052331 AA Change: I259N
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 |
possibly damaging
Transcript: ENSMUST00000178226
AA Change: I56N
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000136802 Gene: ENSMUSG00000052331 AA Change: I56N
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 |
possibly damaging
Transcript: ENSMUST00000179030
AA Change: I259N
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000137616 Gene: ENSMUSG00000052331 AA Change: I259N
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: ENSMUST00000180189
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180327
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188243
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630076J17Rik |
G |
A |
3: 107,139,997 (GRCm39) |
|
probably null |
Het |
Akap13 |
A |
G |
7: 75,389,213 (GRCm39) |
D2377G |
probably damaging |
Het |
Apob |
T |
A |
12: 8,065,445 (GRCm39) |
I4105N |
probably damaging |
Het |
Arhgap5 |
T |
A |
12: 52,564,740 (GRCm39) |
N570K |
probably benign |
Het |
Arid1b |
A |
T |
17: 5,293,191 (GRCm39) |
Q703L |
probably damaging |
Het |
Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
Cad |
T |
A |
5: 31,218,570 (GRCm39) |
V499D |
probably damaging |
Het |
Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
Celsr2 |
A |
C |
3: 108,302,313 (GRCm39) |
I2605S |
probably damaging |
Het |
Chd6 |
T |
A |
2: 160,871,796 (GRCm39) |
Y213F |
possibly damaging |
Het |
Clec18a |
T |
A |
8: 111,802,102 (GRCm39) |
T296S |
probably damaging |
Het |
Crybg2 |
C |
T |
4: 133,802,205 (GRCm39) |
P1122S |
probably benign |
Het |
Cyld |
G |
T |
8: 89,445,929 (GRCm39) |
S309I |
probably benign |
Het |
Dctn5 |
G |
T |
7: 121,734,303 (GRCm39) |
R49L |
probably damaging |
Het |
Egr2 |
GAA |
GA |
10: 67,375,733 (GRCm39) |
|
probably null |
Het |
Erbin |
C |
A |
13: 103,970,065 (GRCm39) |
V1184F |
probably damaging |
Het |
Ercc2 |
G |
T |
7: 19,127,771 (GRCm39) |
R406L |
probably damaging |
Het |
Eya1 |
C |
T |
1: 14,253,420 (GRCm39) |
V519M |
probably damaging |
Het |
Flad1 |
T |
C |
3: 89,316,241 (GRCm39) |
H107R |
probably benign |
Het |
Fsip2 |
G |
T |
2: 82,821,120 (GRCm39) |
A5618S |
possibly damaging |
Het |
Gabbr1 |
G |
T |
17: 37,378,667 (GRCm39) |
|
probably null |
Het |
Haghl |
A |
T |
17: 26,003,994 (GRCm39) |
V30E |
probably damaging |
Het |
Itga5 |
C |
T |
15: 103,258,630 (GRCm39) |
E822K |
probably damaging |
Het |
Klhl26 |
T |
A |
8: 70,905,342 (GRCm39) |
E108D |
possibly damaging |
Het |
Kpnb1 |
A |
T |
11: 97,059,996 (GRCm39) |
L558Q |
probably damaging |
Het |
Lias |
T |
C |
5: 65,551,383 (GRCm39) |
|
probably null |
Het |
Ltbp1 |
A |
T |
17: 75,583,502 (GRCm39) |
K434M |
possibly damaging |
Het |
Marchf1 |
C |
A |
8: 66,908,823 (GRCm39) |
A177E |
probably damaging |
Het |
Naip2 |
T |
A |
13: 100,291,419 (GRCm39) |
H1173L |
probably benign |
Het |
Nol4 |
T |
C |
18: 22,885,052 (GRCm39) |
I419V |
probably damaging |
Het |
Nol6 |
A |
G |
4: 41,115,888 (GRCm39) |
L1068P |
probably damaging |
Het |
Nrcam |
T |
C |
12: 44,606,513 (GRCm39) |
S420P |
probably damaging |
Het |
Or10c1 |
A |
T |
17: 37,522,204 (GRCm39) |
I180N |
possibly damaging |
Het |
Pitpnm2 |
T |
C |
5: 124,259,439 (GRCm39) |
T1299A |
probably benign |
Het |
Prdm16 |
A |
G |
4: 154,406,765 (GRCm39) |
V1220A |
probably benign |
Het |
Saraf |
T |
C |
8: 34,621,870 (GRCm39) |
S25P |
unknown |
Het |
Serpine3 |
C |
A |
14: 62,911,922 (GRCm39) |
L295I |
probably damaging |
Het |
Sntb2 |
G |
A |
8: 107,718,239 (GRCm39) |
|
probably null |
Het |
Surf6 |
T |
C |
2: 26,782,721 (GRCm39) |
E202G |
probably benign |
Het |
Tent5a |
T |
C |
9: 85,208,527 (GRCm39) |
I99V |
possibly damaging |
Het |
Th |
A |
T |
7: 142,450,690 (GRCm39) |
D135E |
probably benign |
Het |
Traf1 |
A |
G |
2: 34,835,445 (GRCm39) |
Y326H |
probably damaging |
Het |
Tshz2 |
G |
A |
2: 169,727,008 (GRCm39) |
A66T |
probably benign |
Het |
Ttn |
T |
C |
2: 76,777,257 (GRCm39) |
M1382V |
probably benign |
Het |
Ubqlnl |
A |
G |
7: 103,798,396 (GRCm39) |
V367A |
probably benign |
Het |
Uspl1 |
T |
A |
5: 149,150,962 (GRCm39) |
S707T |
possibly damaging |
Het |
Utp18 |
A |
G |
11: 93,761,359 (GRCm39) |
S350P |
possibly damaging |
Het |
Vmn1r177 |
A |
G |
7: 23,565,645 (GRCm39) |
V77A |
possibly damaging |
Het |
Vmn1r229 |
A |
G |
17: 21,034,894 (GRCm39) |
I46M |
probably damaging |
Het |
Vnn3 |
T |
C |
10: 23,741,567 (GRCm39) |
Y291H |
probably benign |
Het |
Vps9d1 |
A |
G |
8: 123,974,487 (GRCm39) |
S267P |
probably benign |
Het |
Wrn |
T |
A |
8: 33,785,026 (GRCm39) |
T692S |
probably damaging |
Het |
Yeats2 |
T |
C |
16: 20,032,071 (GRCm39) |
I19T |
probably damaging |
Het |
Zfp13 |
G |
A |
17: 23,800,150 (GRCm39) |
A36V |
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 |
|
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 |
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'- GGCTCAGTGCAAAAGTGTTTAAG -3'
(R):5'- ATAACCTGCTGGGGAGCAAG -3'
Sequencing Primer
(F):5'- TCAGTGCAAAAGTGTTTAAGGCAGAG -3'
(R):5'- ATTCTGATGGGTGAACCTTCC -3'
|
Posted On |
2015-07-21 |