Incidental Mutation 'R4727:Ankrd44'
| ID |
358509 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd44
|
| Ensembl Gene |
ENSMUSG00000052331 |
| Gene Name |
ankyrin repeat domain 44 |
| Synonyms |
E130014H08Rik |
| MMRRC Submission |
041602-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R4727 (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 54706576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 627
(F627I)
|
| 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: F645I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000040327
Gene: ENSMUSG00000052331
AA Change: F645I
| 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: ENSMUST00000177704
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178226
AA Change: F442I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000136802
Gene: ENSMUSG00000052331
AA Change: F442I
| 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
AA Change: F627I
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000137616
Gene: ENSMUSG00000052331
AA Change: F627I
| 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: ENSMUST00000179242
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
T |
C |
15: 91,062,489 (GRCm39) |
N483S |
probably benign |
Het |
| Acoxl |
T |
G |
2: 127,820,658 (GRCm39) |
L70R |
probably damaging |
Het |
| Ash2l |
A |
T |
8: 26,308,623 (GRCm39) |
I552N |
probably damaging |
Het |
| B4galt1 |
A |
G |
4: 40,807,812 (GRCm39) |
S330P |
probably damaging |
Het |
| Bnip3 |
T |
C |
7: 138,500,435 (GRCm39) |
S52G |
probably damaging |
Het |
| Btd |
A |
G |
14: 31,384,278 (GRCm39) |
Q88R |
probably benign |
Het |
| C4bp |
A |
G |
1: 130,566,922 (GRCm39) |
V318A |
probably benign |
Het |
| Cacna1e |
G |
A |
1: 154,312,214 (GRCm39) |
Q1530* |
probably null |
Het |
| Calm1 |
T |
C |
12: 100,166,485 (GRCm39) |
F23S |
probably benign |
Het |
| Cep290 |
T |
G |
10: 100,399,132 (GRCm39) |
I2218R |
probably benign |
Het |
| Ces2c |
T |
C |
8: 105,574,672 (GRCm39) |
I43T |
probably benign |
Het |
| Cyp2d9 |
T |
C |
15: 82,338,602 (GRCm39) |
L1P |
probably null |
Het |
| Dgki |
C |
A |
6: 37,276,748 (GRCm39) |
|
probably benign |
Het |
| Dhh |
A |
G |
15: 98,796,023 (GRCm39) |
L44P |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,594,274 (GRCm39) |
I3409V |
probably damaging |
Het |
| Dnah7b |
G |
A |
1: 46,246,816 (GRCm39) |
R1664H |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 31,070,721 (GRCm39) |
M4469T |
probably damaging |
Het |
| Ehhadh |
T |
C |
16: 21,581,181 (GRCm39) |
I604V |
probably benign |
Het |
| Esr1 |
A |
G |
10: 4,951,418 (GRCm39) |
I599V |
probably benign |
Het |
| Faf1 |
G |
A |
4: 109,697,564 (GRCm39) |
D297N |
probably damaging |
Het |
| Gfra1 |
A |
T |
19: 58,252,386 (GRCm39) |
N380K |
probably damaging |
Het |
| Ghitm |
A |
G |
14: 36,855,700 (GRCm39) |
C8R |
probably damaging |
Het |
| Ifna4 |
C |
A |
4: 88,760,519 (GRCm39) |
T141K |
probably benign |
Het |
| Itsn2 |
A |
G |
12: 4,757,660 (GRCm39) |
Y1424C |
probably damaging |
Het |
| Kcnj10 |
A |
G |
1: 172,197,266 (GRCm39) |
D260G |
probably damaging |
Het |
| Klf16 |
T |
C |
10: 80,405,020 (GRCm39) |
D164G |
probably damaging |
Het |
| Klhdc7b |
T |
A |
15: 89,271,785 (GRCm39) |
L889Q |
probably damaging |
Het |
| Lcmt2 |
C |
G |
2: 120,969,911 (GRCm39) |
V171L |
probably benign |
Het |
| Lrp11 |
A |
G |
10: 7,466,348 (GRCm39) |
E153G |
probably benign |
Het |
| Lrrc43 |
A |
T |
5: 123,632,366 (GRCm39) |
T170S |
probably damaging |
Het |
| Lsr |
T |
C |
7: 30,665,465 (GRCm39) |
Y163C |
probably damaging |
Het |
| Man1a |
A |
T |
10: 53,783,668 (GRCm39) |
|
probably null |
Het |
| Mmp24 |
C |
T |
2: 155,657,819 (GRCm39) |
P570S |
possibly damaging |
Het |
| Ms4a3 |
A |
G |
19: 11,608,742 (GRCm39) |
M170T |
probably damaging |
Het |
| Naip5 |
C |
A |
13: 100,358,378 (GRCm39) |
A953S |
possibly damaging |
Het |
| Nfrkb |
T |
C |
9: 31,314,919 (GRCm39) |
S580P |
probably damaging |
Het |
| Or51q1c |
T |
G |
7: 103,653,097 (GRCm39) |
V205G |
probably benign |
Het |
| Or8b38 |
T |
C |
9: 37,973,389 (GRCm39) |
Y258H |
probably damaging |
Het |
| Padi6 |
T |
G |
4: 140,458,506 (GRCm39) |
D462A |
probably damaging |
Het |
| Pde6a |
A |
G |
18: 61,364,561 (GRCm39) |
R206G |
probably benign |
Het |
| Plk4 |
A |
G |
3: 40,759,589 (GRCm39) |
N162D |
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,717,721 (GRCm39) |
D1922E |
probably benign |
Het |
| Rangap1 |
G |
A |
15: 81,613,956 (GRCm39) |
|
probably benign |
Het |
| Rapgef3 |
A |
G |
15: 97,658,481 (GRCm39) |
L175P |
probably damaging |
Het |
| Rps6kb1 |
G |
C |
11: 86,435,484 (GRCm39) |
|
probably null |
Het |
| Satb1 |
T |
C |
17: 52,111,375 (GRCm39) |
Y161C |
probably damaging |
Het |
| Sel1l3 |
C |
A |
5: 53,301,525 (GRCm39) |
|
probably null |
Het |
| Slc17a7 |
C |
T |
7: 44,822,358 (GRCm39) |
S398L |
possibly damaging |
Het |
| Slc22a4 |
T |
A |
11: 53,918,477 (GRCm39) |
E109V |
possibly damaging |
Het |
| Slc26a7 |
C |
T |
4: 14,590,477 (GRCm39) |
A105T |
probably damaging |
Het |
| Slc47a1 |
T |
C |
11: 61,254,277 (GRCm39) |
N145S |
possibly damaging |
Het |
| Tank |
A |
G |
2: 61,483,876 (GRCm39) |
T441A |
probably benign |
Het |
| Tefm |
T |
C |
11: 80,031,279 (GRCm39) |
|
probably benign |
Het |
| Ttbk2 |
T |
C |
2: 120,575,851 (GRCm39) |
Y1042C |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,077,894 (GRCm39) |
Q892R |
probably damaging |
Het |
| Wdr33 |
T |
A |
18: 32,021,500 (GRCm39) |
H683Q |
unknown |
Het |
| Zfp36l2 |
T |
A |
17: 84,495,089 (GRCm39) |
I12F |
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,291,170 (GRCm39) |
M2145K |
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 |
|
|
R4458:Ankrd44
|
UTSW |
1 |
54,801,550 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4610:Ankrd44
|
UTSW |
1 |
54,805,907 (GRCm39) |
intron |
probably benign |
|
|
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'- GCCCCTTTGCAAAACAGTC -3'
(R):5'- TTGTGACTCAGGAGGCTCAG -3'
Sequencing Primer
(F):5'- GTCCTAATGATGCCATTAATGCCTG -3'
(R):5'- CAAGTAAGGATTCGATTTGTGGC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation