Incidental Mutation 'R7501:Ankrd44'
| ID |
581449 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd44
|
| Ensembl Gene |
ENSMUSG00000052331 |
| Gene Name |
ankyrin repeat domain 44 |
| Synonyms |
E130014H08Rik |
| MMRRC Submission |
045574-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R7501 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
54684499-54965546 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 54688522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 238
(E238G)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044359]
[ENSMUST00000178226]
[ENSMUST00000179030]
|
| AlphaFold |
B2RXR6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044359
|
| SMART Domains |
Protein: ENSMUSP00000040327
Gene: ENSMUSG00000052331
| 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 |
|
| 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 benign
Transcript: ENSMUST00000179030
|
| SMART Domains |
Protein: ENSMUSP00000137616
Gene: ENSMUSG00000052331
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
A |
G |
3: 36,142,974 (GRCm39) |
N503S |
probably benign |
Het |
| Adam1a |
C |
T |
5: 121,657,011 (GRCm39) |
A761T |
possibly damaging |
Het |
| Amn1 |
C |
T |
6: 149,086,529 (GRCm39) |
M44I |
probably benign |
Het |
| Ap3b2 |
A |
T |
7: 81,123,194 (GRCm39) |
I440K |
probably damaging |
Het |
| Atp2a1 |
G |
A |
7: 126,049,344 (GRCm39) |
T566I |
probably benign |
Het |
| B3galnt1 |
T |
C |
3: 69,482,632 (GRCm39) |
I210V |
probably benign |
Het |
| Bag5 |
T |
C |
12: 111,676,722 (GRCm39) |
K367R |
probably benign |
Het |
| Cdc25b |
T |
C |
2: 131,036,080 (GRCm39) |
Y410H |
probably damaging |
Het |
| Cgref1 |
G |
T |
5: 31,102,800 (GRCm39) |
P7Q |
probably damaging |
Het |
| Cnot6 |
T |
C |
11: 49,576,159 (GRCm39) |
I136V |
probably benign |
Het |
| Comp |
A |
G |
8: 70,832,059 (GRCm39) |
D500G |
possibly damaging |
Het |
| Dnah7b |
T |
C |
1: 46,395,714 (GRCm39) |
L3872P |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,175,336 (GRCm39) |
L91Q |
possibly damaging |
Het |
| Fancd2 |
T |
C |
6: 113,525,364 (GRCm39) |
V280A |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 39,012,597 (GRCm39) |
Y2297* |
probably null |
Het |
| Fem1c |
A |
T |
18: 46,638,868 (GRCm39) |
M378K |
probably damaging |
Het |
| Gata6 |
A |
G |
18: 11,054,082 (GRCm39) |
T4A |
probably damaging |
Het |
| Gatb |
G |
C |
3: 85,544,297 (GRCm39) |
V422L |
probably damaging |
Het |
| Gfpt1 |
T |
A |
6: 87,059,508 (GRCm39) |
D510E |
probably benign |
Het |
| Gria4 |
A |
T |
9: 4,502,436 (GRCm39) |
Y366N |
probably benign |
Het |
| Gucy1b1 |
T |
C |
3: 81,942,666 (GRCm39) |
H492R |
probably damaging |
Het |
| H2bc6 |
A |
G |
13: 23,769,776 (GRCm39) |
I55T |
possibly damaging |
Het |
| Hecw2 |
T |
C |
1: 53,953,031 (GRCm39) |
|
probably null |
Het |
| Hnrnph1 |
A |
C |
11: 50,270,383 (GRCm39) |
E62D |
probably benign |
Het |
| Itga2 |
A |
G |
13: 115,012,095 (GRCm39) |
V274A |
probably damaging |
Het |
| Kdm5d |
T |
A |
Y: 941,488 (GRCm39) |
W1230R |
probably damaging |
Het |
| Lctl |
A |
T |
9: 64,038,861 (GRCm39) |
M317L |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,463,471 (GRCm39) |
D570G |
probably damaging |
Het |
| Lrrc9 |
G |
T |
12: 72,496,490 (GRCm39) |
M39I |
probably damaging |
Het |
| Ltbp2 |
A |
T |
12: 84,877,419 (GRCm39) |
I402N |
probably damaging |
Het |
| Mst1 |
G |
A |
9: 107,959,748 (GRCm39) |
G297D |
probably damaging |
Het |
| Muc6 |
G |
C |
7: 141,217,659 (GRCm39) |
P2338R |
probably damaging |
Het |
| Nbr1 |
G |
A |
11: 101,457,026 (GRCm39) |
R163Q |
probably damaging |
Het |
| Nlrp4f |
A |
G |
13: 65,342,143 (GRCm39) |
F501L |
probably damaging |
Het |
| Nup133 |
A |
C |
8: 124,649,153 (GRCm39) |
I563S |
probably benign |
Het |
| Oacyl |
T |
G |
18: 65,858,369 (GRCm39) |
|
probably null |
Het |
| Oog4 |
CAA |
CA |
4: 143,164,022 (GRCm39) |
|
probably null |
Het |
| Plxna2 |
C |
T |
1: 194,326,203 (GRCm39) |
R46C |
possibly damaging |
Het |
| Ppp1r26 |
T |
A |
2: 28,340,749 (GRCm39) |
D126E |
probably damaging |
Het |
| Prl6a1 |
A |
T |
13: 27,500,282 (GRCm39) |
R84S |
possibly damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,001,746 (GRCm39) |
Q1279* |
probably null |
Het |
| Ptx4 |
C |
T |
17: 25,344,166 (GRCm39) |
T472I |
possibly damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,528,358 (GRCm39) |
V416A |
probably damaging |
Het |
| Rbfox2 |
A |
T |
15: 76,989,834 (GRCm39) |
D231E |
probably benign |
Het |
| Reln |
A |
T |
5: 22,432,636 (GRCm39) |
F121L |
possibly damaging |
Het |
| Rfx7 |
G |
A |
9: 72,524,054 (GRCm39) |
V415I |
probably benign |
Het |
| Scaf4 |
A |
T |
16: 90,026,964 (GRCm39) |
M951K |
unknown |
Het |
| Sdf4 |
T |
C |
4: 156,080,977 (GRCm39) |
|
probably null |
Het |
| Sec16a |
T |
C |
2: 26,331,863 (GRCm39) |
T51A |
probably damaging |
Het |
| Sema3a |
A |
G |
5: 13,607,008 (GRCm39) |
N281S |
probably damaging |
Het |
| Snai2 |
G |
A |
16: 14,524,754 (GRCm39) |
V87I |
possibly damaging |
Het |
| Spata31f1e |
T |
C |
4: 42,791,357 (GRCm39) |
E925G |
probably damaging |
Het |
| Synj2 |
T |
A |
17: 6,040,514 (GRCm39) |
S197T |
possibly damaging |
Het |
| Syt6 |
A |
T |
3: 103,495,018 (GRCm39) |
M328L |
probably benign |
Het |
| Tdrd12 |
A |
G |
7: 35,177,516 (GRCm39) |
V946A |
unknown |
Het |
| Trat1 |
A |
T |
16: 48,574,657 (GRCm39) |
|
probably null |
Het |
| Vmn1r75 |
T |
A |
7: 11,614,997 (GRCm39) |
I243K |
possibly damaging |
Het |
| Vmn2r83 |
G |
A |
10: 79,327,771 (GRCm39) |
C793Y |
probably damaging |
Het |
| Wnt9a |
G |
A |
11: 59,219,583 (GRCm39) |
G203D |
probably damaging |
Het |
| Xrn2 |
T |
C |
2: 146,871,676 (GRCm39) |
I366T |
probably damaging |
Het |
| Zfp280d |
A |
G |
9: 72,269,224 (GRCm39) |
D787G |
possibly damaging |
Het |
| Zfp706 |
T |
C |
15: 37,002,169 (GRCm39) |
T53A |
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 |
|
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'- CCATCTGGGTGTGTTTCAGC -3'
(R):5'- TCCTAACAAAGACGTGGCTG -3'
Sequencing Primer
(F):5'- GGTGTGTTTCAGCCTACCACCTAG -3'
(R):5'- CTAACAAAGACGTGGCTGACTGC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation