Incidental Mutation 'R0416:Ankrd44'
ID |
40290 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd44
|
Ensembl Gene |
ENSMUSG00000052331 |
Gene Name |
ankyrin repeat domain 44 |
Synonyms |
E130014H08Rik |
MMRRC Submission |
038618-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R0416 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
54684499-54965546 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 54782498 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 359
(I359L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137616
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044359]
[ENSMUST00000178226]
[ENSMUST00000179030]
|
AlphaFold |
B2RXR6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044359
AA Change: I359L
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000040327 Gene: ENSMUSG00000052331 AA Change: I359L
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: ENSMUST00000177919
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178226
AA Change: I156L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000136802 Gene: ENSMUSG00000052331 AA Change: I156L
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: ENSMUST00000178935
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179030
AA Change: I359L
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000137616 Gene: ENSMUSG00000052331 AA Change: I359L
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: ENSMUST00000188243
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191996
|
Meta Mutation Damage Score |
0.0942 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 91.8%
|
Validation Efficiency |
99% (74/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm2 |
A |
G |
7: 119,162,779 (GRCm39) |
I18V |
probably benign |
Het |
Adamdec1 |
T |
G |
14: 68,806,161 (GRCm39) |
E438A |
possibly damaging |
Het |
Adamts17 |
A |
G |
7: 66,565,646 (GRCm39) |
|
probably null |
Het |
Ap2s1 |
C |
A |
7: 16,481,290 (GRCm39) |
N86K |
probably damaging |
Het |
Arih1 |
T |
A |
9: 59,333,993 (GRCm39) |
|
probably benign |
Het |
Astn1 |
T |
A |
1: 158,337,461 (GRCm39) |
I389N |
probably damaging |
Het |
Brca2 |
T |
C |
5: 150,492,857 (GRCm39) |
S3291P |
possibly damaging |
Het |
Cacna1d |
T |
C |
14: 29,822,645 (GRCm39) |
|
probably benign |
Het |
Ccl7 |
C |
A |
11: 81,936,692 (GRCm39) |
|
probably benign |
Het |
Cd74 |
A |
T |
18: 60,944,486 (GRCm39) |
Y232F |
possibly damaging |
Het |
Cep128 |
A |
G |
12: 91,197,641 (GRCm39) |
|
probably benign |
Het |
Cep89 |
T |
A |
7: 35,115,827 (GRCm39) |
|
probably benign |
Het |
Cmya5 |
T |
G |
13: 93,226,364 (GRCm39) |
N2908T |
probably benign |
Het |
Coil |
T |
C |
11: 88,872,812 (GRCm39) |
L391S |
possibly damaging |
Het |
Cpd |
C |
T |
11: 76,676,030 (GRCm39) |
V1208I |
probably benign |
Het |
Ddx19a |
T |
C |
8: 111,705,689 (GRCm39) |
D254G |
probably damaging |
Het |
Desi2 |
T |
A |
1: 178,083,887 (GRCm39) |
|
probably benign |
Het |
Dnah11 |
A |
T |
12: 117,874,793 (GRCm39) |
M4024K |
probably damaging |
Het |
Ergic2 |
A |
T |
6: 148,084,642 (GRCm39) |
L53H |
probably damaging |
Het |
Etv2 |
T |
C |
7: 30,334,058 (GRCm39) |
Y225C |
probably benign |
Het |
F10 |
G |
A |
8: 13,105,448 (GRCm39) |
A338T |
probably damaging |
Het |
Fam228b |
T |
A |
12: 4,812,382 (GRCm39) |
D132V |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,174,960 (GRCm39) |
I1918F |
possibly damaging |
Het |
Fbxw5 |
C |
T |
2: 25,393,251 (GRCm39) |
S214F |
probably damaging |
Het |
Glyat |
G |
A |
19: 12,628,817 (GRCm39) |
R204Q |
possibly damaging |
Het |
Gm4825 |
T |
C |
15: 85,395,182 (GRCm39) |
|
noncoding transcript |
Het |
Ino80d |
G |
T |
1: 63,125,435 (GRCm39) |
T9K |
possibly damaging |
Het |
Lifr |
A |
T |
15: 7,196,395 (GRCm39) |
D193V |
probably damaging |
Het |
Lrp12 |
G |
T |
15: 39,742,307 (GRCm39) |
|
probably benign |
Het |
Lrp3 |
A |
G |
7: 34,901,778 (GRCm39) |
V701A |
probably benign |
Het |
Mfsd11 |
T |
A |
11: 116,756,708 (GRCm39) |
|
probably benign |
Het |
Mrto4 |
A |
T |
4: 139,077,043 (GRCm39) |
|
probably null |
Het |
Msi1 |
T |
C |
5: 115,568,708 (GRCm39) |
F43L |
possibly damaging |
Het |
Mthfsd |
T |
C |
8: 121,827,976 (GRCm39) |
D168G |
probably damaging |
Het |
Myo15a |
T |
A |
11: 60,402,000 (GRCm39) |
V3099E |
probably damaging |
Het |
Myrf |
T |
C |
19: 10,193,176 (GRCm39) |
|
probably null |
Het |
Nadk |
C |
A |
4: 155,672,256 (GRCm39) |
|
probably benign |
Het |
Nav1 |
T |
C |
1: 135,398,864 (GRCm39) |
K573E |
possibly damaging |
Het |
Ndufs3 |
A |
G |
2: 90,728,732 (GRCm39) |
V207A |
probably damaging |
Het |
Nlrp3 |
T |
C |
11: 59,446,750 (GRCm39) |
|
probably benign |
Het |
Nlrx1 |
T |
G |
9: 44,174,211 (GRCm39) |
D330A |
probably benign |
Het |
Or2a56 |
G |
A |
6: 42,932,504 (GRCm39) |
C24Y |
probably benign |
Het |
Or2t49 |
T |
C |
11: 58,393,222 (GRCm39) |
I53M |
unknown |
Het |
Osbpl3 |
C |
T |
6: 50,324,998 (GRCm39) |
V167I |
probably benign |
Het |
Pcnx1 |
A |
T |
12: 82,021,240 (GRCm39) |
I1410F |
probably benign |
Het |
Piezo2 |
G |
A |
18: 63,157,562 (GRCm39) |
R2383C |
probably damaging |
Het |
Pip5kl1 |
A |
T |
2: 32,473,436 (GRCm39) |
K358* |
probably null |
Het |
Polg |
T |
C |
7: 79,101,988 (GRCm39) |
|
probably benign |
Het |
Prr14l |
T |
A |
5: 32,986,061 (GRCm39) |
I1145F |
probably benign |
Het |
Psmb1 |
C |
T |
17: 15,714,781 (GRCm39) |
V39I |
probably benign |
Het |
Ptk6 |
T |
C |
2: 180,844,101 (GRCm39) |
Y66C |
possibly damaging |
Het |
Robo4 |
T |
C |
9: 37,316,062 (GRCm39) |
|
probably benign |
Het |
Sdk2 |
A |
G |
11: 113,694,029 (GRCm39) |
Y1801H |
probably damaging |
Het |
Serpinb3a |
C |
A |
1: 106,977,116 (GRCm39) |
A95S |
probably benign |
Het |
Setd1a |
CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
CTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
7: 127,384,469 (GRCm39) |
|
probably benign |
Het |
Sik2 |
A |
T |
9: 50,906,932 (GRCm39) |
Y98N |
probably damaging |
Het |
Slc30a1 |
C |
T |
1: 191,641,838 (GRCm39) |
P495S |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,783,684 (GRCm39) |
|
probably benign |
Het |
Stk3 |
T |
A |
15: 35,114,778 (GRCm39) |
I45L |
probably benign |
Het |
Tapbp |
A |
G |
17: 34,144,392 (GRCm39) |
T163A |
probably damaging |
Het |
Tdrd5 |
T |
C |
1: 156,113,051 (GRCm39) |
K410E |
probably damaging |
Het |
Trim30b |
A |
T |
7: 104,012,973 (GRCm39) |
M152K |
probably benign |
Het |
Trpm6 |
G |
T |
19: 18,760,389 (GRCm39) |
|
probably benign |
Het |
Tsc22d1 |
T |
C |
14: 76,742,743 (GRCm39) |
|
probably benign |
Het |
U2surp |
A |
T |
9: 95,367,660 (GRCm39) |
F444I |
probably damaging |
Het |
Vmn2r95 |
C |
T |
17: 18,661,664 (GRCm39) |
P470L |
probably damaging |
Het |
Zc3h4 |
T |
G |
7: 16,154,200 (GRCm39) |
Y163D |
probably damaging |
Het |
Zfp62 |
A |
T |
11: 49,106,503 (GRCm39) |
H198L |
probably damaging |
Het |
Zmym1 |
A |
G |
4: 126,952,613 (GRCm39) |
L56P |
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 |
|
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 |
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'- CCTCCTGGGCTCTGTCATTAAACTG -3'
(R):5'- GGAAAGTGAGCCATCTCCGTAACTG -3'
Sequencing Primer
(F):5'- GGCTCTGTCATTAAACTGCCTTC -3'
(R):5'- CAGGAAATCAATAGTTGGTGTTCCC -3'
|
Posted On |
2013-05-23 |