Incidental Mutation 'R6905:Ankrd44'
ID |
538714 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd44
|
Ensembl Gene |
ENSMUSG00000052331 |
Gene Name |
ankyrin repeat domain 44 |
Synonyms |
E130014H08Rik |
MMRRC Submission |
044997-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R6905 (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 G
at 54831653 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 50
(F50S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137616
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044359]
[ENSMUST00000177679]
[ENSMUST00000179030]
|
AlphaFold |
B2RXR6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044359
AA Change: F50S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000040327 Gene: ENSMUSG00000052331 AA Change: F50S
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: ENSMUST00000177679
AA Change: F25S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137216 Gene: ENSMUSG00000052331 AA Change: F25S
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 |
probably damaging
Transcript: ENSMUST00000179030
AA Change: F50S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137616 Gene: ENSMUSG00000052331 AA Change: F50S
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: 99.8%
- 10x: 99.0%
- 20x: 96.8%
|
Validation Efficiency |
98% (44/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700025G04Rik |
G |
T |
1: 151,856,189 (GRCm39) |
N59K |
probably damaging |
Het |
Abi3bp |
A |
G |
16: 56,394,880 (GRCm39) |
D196G |
probably damaging |
Het |
Arid4a |
C |
T |
12: 71,108,318 (GRCm39) |
A41V |
probably benign |
Het |
Cdk11b |
A |
T |
4: 155,726,065 (GRCm39) |
|
probably benign |
Het |
Chrm5 |
C |
A |
2: 112,309,901 (GRCm39) |
C405F |
probably benign |
Het |
Cimip2a |
A |
G |
2: 25,110,491 (GRCm39) |
I100V |
probably benign |
Het |
Col6a4 |
A |
T |
9: 105,937,517 (GRCm39) |
|
probably null |
Het |
Copb1 |
A |
C |
7: 113,853,125 (GRCm39) |
I24S |
probably benign |
Het |
Ctsh |
A |
T |
9: 89,944,819 (GRCm39) |
K83N |
probably damaging |
Het |
Dgkd |
A |
G |
1: 87,863,097 (GRCm39) |
E48G |
probably damaging |
Het |
Dis3l2 |
A |
G |
1: 86,972,561 (GRCm39) |
T657A |
probably benign |
Het |
Flrt1 |
T |
A |
19: 7,072,757 (GRCm39) |
K597* |
probably null |
Het |
Ifit1bl2 |
T |
C |
19: 34,596,990 (GRCm39) |
S209G |
possibly damaging |
Het |
Ifrd2 |
T |
C |
9: 107,465,089 (GRCm39) |
M1T |
probably null |
Het |
Ighv8-12 |
T |
C |
12: 115,611,705 (GRCm39) |
Y73C |
probably benign |
Het |
Klhl21 |
C |
A |
4: 152,094,184 (GRCm39) |
A262E |
probably benign |
Het |
L3mbtl4 |
A |
T |
17: 69,084,883 (GRCm39) |
Y598F |
probably benign |
Het |
Lad1 |
A |
G |
1: 135,755,618 (GRCm39) |
K298R |
probably benign |
Het |
Map2k2 |
A |
G |
10: 80,944,701 (GRCm39) |
D71G |
probably damaging |
Het |
Megf8 |
T |
A |
7: 25,037,357 (GRCm39) |
H752Q |
probably benign |
Het |
Mms22l |
A |
T |
4: 24,503,107 (GRCm39) |
M200L |
probably benign |
Het |
Mup5 |
C |
A |
4: 61,751,340 (GRCm39) |
D103Y |
possibly damaging |
Het |
Nes |
C |
T |
3: 87,885,985 (GRCm39) |
P1371S |
probably damaging |
Het |
Or4c10b |
A |
T |
2: 89,712,052 (GRCm39) |
D294V |
probably benign |
Het |
Or4f14c |
A |
T |
2: 111,940,703 (GRCm39) |
M298K |
probably damaging |
Het |
Or52z14 |
A |
T |
7: 103,253,574 (GRCm39) |
T238S |
probably benign |
Het |
Osbpl3 |
T |
C |
6: 50,328,862 (GRCm39) |
I114V |
probably damaging |
Het |
Pank3 |
T |
C |
11: 35,667,239 (GRCm39) |
Y119H |
probably benign |
Het |
Pcdhb15 |
C |
T |
18: 37,607,748 (GRCm39) |
L327F |
possibly damaging |
Het |
Pnpla8 |
T |
C |
12: 44,330,336 (GRCm39) |
V78A |
probably damaging |
Het |
Rbm14 |
A |
G |
19: 4,853,264 (GRCm39) |
|
probably benign |
Het |
Rev3l |
G |
A |
10: 39,693,323 (GRCm39) |
V468M |
probably benign |
Het |
Ripk1 |
A |
G |
13: 34,211,973 (GRCm39) |
I428V |
probably benign |
Het |
Rps5 |
T |
C |
7: 12,659,785 (GRCm39) |
V147A |
probably damaging |
Het |
Rps6ka2 |
T |
A |
17: 7,495,340 (GRCm39) |
I9N |
probably damaging |
Het |
Samd9l |
A |
T |
6: 3,375,387 (GRCm39) |
F625I |
probably damaging |
Het |
Sh3bp1 |
A |
G |
15: 78,789,230 (GRCm39) |
D196G |
probably benign |
Het |
Slc66a1 |
A |
G |
4: 139,033,752 (GRCm39) |
|
probably null |
Het |
Smg7 |
A |
T |
1: 152,725,757 (GRCm39) |
|
probably null |
Het |
Stap1 |
G |
A |
5: 86,238,781 (GRCm39) |
E150K |
possibly damaging |
Het |
Ticrr |
T |
C |
7: 79,315,598 (GRCm39) |
I284T |
probably benign |
Het |
Tm4sf1 |
T |
C |
3: 57,202,330 (GRCm39) |
|
probably benign |
Het |
Traf4 |
C |
T |
11: 78,051,268 (GRCm39) |
R296Q |
probably benign |
Het |
Trav7d-4 |
G |
T |
14: 53,007,770 (GRCm39) |
A88S |
possibly damaging |
Het |
Vwde |
T |
C |
6: 13,205,926 (GRCm39) |
E207G |
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 |
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'- TGTGCTATACAGAGTGATAGACAG -3'
(R):5'- TTGGGGAGCCATTTGTATTATCTAACC -3'
Sequencing Primer
(F):5'- GCTATACAGAGTGATAGACAGGAATC -3'
(R):5'- ACCACTTACAGAGAGGTTTCTC -3'
|
Posted On |
2018-11-06 |