Incidental Mutation 'R7283:Ankrd44'
ID |
565768 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd44
|
Ensembl Gene |
ENSMUSG00000052331 |
Gene Name |
ankyrin repeat domain 44 |
Synonyms |
E130014H08Rik |
MMRRC Submission |
045361-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R7283 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
54684499-54965546 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 54768955 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 465
(N465K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137616
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044359]
[ENSMUST00000178226]
[ENSMUST00000179030]
|
AlphaFold |
B2RXR6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044359
AA Change: N483K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040327 Gene: ENSMUSG00000052331 AA Change: N483K
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 damaging
Transcript: ENSMUST00000178226
AA Change: N280K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136802 Gene: ENSMUSG00000052331 AA Change: N280K
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: N465K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000137616 Gene: ENSMUSG00000052331 AA Change: N465K
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: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
Validation Efficiency |
100% (72/72) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833439L19Rik |
A |
G |
13: 54,700,504 (GRCm39) |
V278A |
probably benign |
Het |
Abcc3 |
C |
T |
11: 94,247,873 (GRCm39) |
A1207T |
probably benign |
Het |
Abce1 |
C |
A |
8: 80,411,885 (GRCm39) |
G592* |
probably null |
Het |
Acad10 |
A |
C |
5: 121,787,538 (GRCm39) |
V137G |
possibly damaging |
Het |
Adcy3 |
A |
G |
12: 4,253,563 (GRCm39) |
I672V |
not run |
Het |
Adgrb1 |
A |
T |
15: 74,452,512 (GRCm39) |
Q1166L |
possibly damaging |
Het |
Avpr1b |
A |
G |
1: 131,537,469 (GRCm39) |
T418A |
probably benign |
Het |
Azin1 |
G |
A |
15: 38,501,652 (GRCm39) |
T33I |
probably damaging |
Het |
Bicra |
T |
C |
7: 15,706,425 (GRCm39) |
T1339A |
probably damaging |
Het |
Bltp2 |
A |
G |
11: 78,165,654 (GRCm39) |
Q1346R |
probably damaging |
Het |
Cacna1s |
A |
G |
1: 136,001,446 (GRCm39) |
Y299C |
probably damaging |
Het |
Clip1 |
A |
C |
5: 123,751,857 (GRCm39) |
C641W |
|
Het |
Clip3 |
T |
C |
7: 30,005,237 (GRCm39) |
S524P |
probably damaging |
Het |
Cnpy4 |
A |
T |
5: 138,191,144 (GRCm39) |
H240L |
probably benign |
Het |
Cyp2b19 |
T |
C |
7: 26,466,339 (GRCm39) |
Y381H |
probably damaging |
Het |
Cyp3a13 |
T |
A |
5: 137,903,818 (GRCm39) |
N280I |
probably benign |
Het |
Diaph3 |
A |
G |
14: 87,104,020 (GRCm39) |
F788S |
probably damaging |
Het |
Drc7 |
A |
G |
8: 95,798,207 (GRCm39) |
N484S |
probably damaging |
Het |
Erap1 |
G |
A |
13: 74,821,903 (GRCm39) |
|
probably null |
Het |
Fat4 |
A |
T |
3: 38,943,842 (GRCm39) |
I912F |
probably damaging |
Het |
Hsd3b3 |
T |
A |
3: 98,649,673 (GRCm39) |
K217* |
probably null |
Het |
Igkv12-89 |
A |
G |
6: 68,812,061 (GRCm39) |
V36A |
probably damaging |
Het |
Invs |
T |
A |
4: 48,392,526 (GRCm39) |
|
probably null |
Het |
Ipo8 |
T |
A |
6: 148,725,979 (GRCm39) |
Y30F |
possibly damaging |
Het |
Kctd14 |
T |
C |
7: 97,100,693 (GRCm39) |
M1T |
probably null |
Het |
Klrb1c |
A |
T |
6: 128,761,220 (GRCm39) |
C136S |
probably benign |
Het |
Morn2 |
A |
G |
17: 80,604,688 (GRCm39) |
E48G |
probably damaging |
Het |
Myh1 |
A |
T |
11: 67,092,670 (GRCm39) |
|
probably null |
Het |
Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
Nfxl1 |
A |
G |
5: 72,686,393 (GRCm39) |
S603P |
probably benign |
Het |
Nlrc3 |
G |
A |
16: 3,765,741 (GRCm39) |
A351V |
probably benign |
Het |
Nlrp4f |
G |
A |
13: 65,343,352 (GRCm39) |
R76* |
probably null |
Het |
Or1e1f |
T |
C |
11: 73,855,634 (GRCm39) |
S67P |
probably damaging |
Het |
Or52n1 |
G |
T |
7: 104,382,800 (GRCm39) |
T257K |
probably damaging |
Het |
Or5h22 |
A |
T |
16: 58,894,555 (GRCm39) |
M296K |
probably benign |
Het |
Or7e176 |
A |
C |
9: 20,171,555 (GRCm39) |
I140L |
probably damaging |
Het |
Or8k41 |
A |
T |
2: 86,313,483 (GRCm39) |
I201N |
probably damaging |
Het |
Papolg |
A |
G |
11: 23,817,394 (GRCm39) |
V601A |
not run |
Het |
Pde4dip |
T |
C |
3: 97,666,198 (GRCm39) |
T349A |
probably benign |
Het |
Pdlim5 |
T |
C |
3: 142,017,741 (GRCm39) |
|
probably null |
Het |
Pkhd1l1 |
A |
G |
15: 44,366,676 (GRCm39) |
N718S |
probably benign |
Het |
Plcxd3 |
A |
G |
15: 4,546,401 (GRCm39) |
H135R |
probably damaging |
Het |
Plxna2 |
A |
T |
1: 194,327,191 (GRCm39) |
Y375F |
probably damaging |
Het |
Prkca |
C |
T |
11: 108,231,471 (GRCm39) |
|
probably null |
Het |
Prkdc |
A |
G |
16: 15,535,628 (GRCm39) |
S1663G |
probably benign |
Het |
Ptbp3 |
T |
C |
4: 59,514,384 (GRCm39) |
T80A |
probably benign |
Het |
Ptpn4 |
C |
T |
1: 119,610,261 (GRCm39) |
V696I |
possibly damaging |
Het |
Pygl |
A |
T |
12: 70,263,342 (GRCm39) |
W175R |
possibly damaging |
Het |
Rftn1 |
A |
G |
17: 50,354,469 (GRCm39) |
Y298H |
probably damaging |
Het |
Rit2 |
A |
G |
18: 31,449,892 (GRCm39) |
|
probably null |
Het |
Runx1t1 |
G |
A |
4: 13,846,935 (GRCm39) |
G240R |
probably damaging |
Het |
Scn10a |
A |
G |
9: 119,493,845 (GRCm39) |
|
probably null |
Het |
Serpina16 |
A |
C |
12: 103,638,691 (GRCm39) |
|
probably null |
Het |
Slc17a3 |
A |
T |
13: 24,039,831 (GRCm39) |
M290L |
|
Het |
Slc6a4 |
A |
T |
11: 76,901,522 (GRCm39) |
M86L |
probably benign |
Het |
Spag7 |
A |
T |
11: 70,556,139 (GRCm39) |
V46E |
probably benign |
Het |
Spata31h1 |
G |
A |
10: 82,127,131 (GRCm39) |
R1960W |
possibly damaging |
Het |
Sptlc1 |
T |
C |
13: 53,498,914 (GRCm39) |
I271V |
probably benign |
Het |
Stk17b |
A |
C |
1: 53,796,674 (GRCm39) |
H364Q |
probably benign |
Het |
Strc |
T |
C |
2: 121,209,933 (GRCm39) |
H130R |
probably damaging |
Het |
Stxbp1 |
T |
A |
2: 32,705,026 (GRCm39) |
D148V |
probably damaging |
Het |
Tirap |
G |
A |
9: 35,100,225 (GRCm39) |
P153L |
probably damaging |
Het |
Tmco3 |
G |
A |
8: 13,369,605 (GRCm39) |
|
probably null |
Het |
Tmem51 |
T |
A |
4: 141,759,094 (GRCm39) |
D218V |
probably damaging |
Het |
Trim40 |
A |
T |
17: 37,193,554 (GRCm39) |
D218E |
probably benign |
Het |
Ttc21b |
T |
C |
2: 66,039,062 (GRCm39) |
D934G |
probably damaging |
Het |
Vmn2r26 |
T |
C |
6: 124,002,914 (GRCm39) |
L108P |
probably damaging |
Het |
Washc2 |
C |
A |
6: 116,204,379 (GRCm39) |
P429Q |
probably damaging |
Het |
Wipi1 |
A |
G |
11: 109,502,137 (GRCm39) |
M1T |
probably null |
Het |
Zfp438 |
A |
G |
18: 5,214,712 (GRCm39) |
V82A |
probably damaging |
Het |
Zfp853 |
G |
C |
5: 143,273,493 (GRCm39) |
A724G |
unknown |
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 |
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'- TCTGAATGAGAGATTCCTTGTGTGC -3'
(R):5'- CTTTGCGGACTCAGCTTTGC -3'
Sequencing Primer
(F):5'- GCAGTTTCTAGGAGGCAGTATG -3'
(R):5'- CCATTGCACTATGCAGCT -3'
|
Posted On |
2019-06-26 |