Incidental Mutation 'R5155:Ankrd44'
ID |
396627 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd44
|
Ensembl Gene |
ENSMUSG00000052331 |
Gene Name |
ankyrin repeat domain 44 |
Synonyms |
E130014H08Rik |
MMRRC Submission |
042737-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.155)
|
Stock # |
R5155 (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 54817489 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 73
(M73K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137616
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044359]
[ENSMUST00000177679]
[ENSMUST00000179030]
|
AlphaFold |
B2RXR6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044359
AA Change: M73K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000040327 Gene: ENSMUSG00000052331 AA Change: M73K
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 benign
Transcript: ENSMUST00000177679
AA Change: M48K
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000137216 Gene: ENSMUSG00000052331 AA Change: M48K
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 |
noncoding transcript
Transcript: ENSMUST00000178905
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178935
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179030
AA Change: M73K
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000137616 Gene: ENSMUSG00000052331 AA Change: M73K
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: ENSMUST00000180327
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,482,447 (GRCm39) |
V4326A |
probably damaging |
Het |
Actn4 |
A |
G |
7: 28,661,442 (GRCm39) |
|
probably null |
Het |
Adamts8 |
A |
G |
9: 30,865,844 (GRCm39) |
D464G |
probably benign |
Het |
Adss1 |
T |
C |
12: 112,604,642 (GRCm39) |
I366T |
probably damaging |
Het |
Alox12e |
T |
C |
11: 70,207,081 (GRCm39) |
D575G |
possibly damaging |
Het |
Ap4e1 |
A |
G |
2: 126,905,289 (GRCm39) |
T987A |
probably benign |
Het |
Banp |
A |
C |
8: 122,727,759 (GRCm39) |
S318R |
probably damaging |
Het |
Bcas1 |
T |
C |
2: 170,260,538 (GRCm39) |
H47R |
probably damaging |
Het |
Brwd1 |
G |
T |
16: 95,803,993 (GRCm39) |
S2524* |
probably null |
Het |
Btbd8 |
T |
C |
5: 107,638,569 (GRCm39) |
I323T |
probably damaging |
Het |
Cand2 |
T |
A |
6: 115,769,219 (GRCm39) |
D676E |
probably benign |
Het |
Cc2d1a |
A |
T |
8: 84,867,755 (GRCm39) |
H224Q |
probably benign |
Het |
Ccdc138 |
A |
T |
10: 58,343,394 (GRCm39) |
Y83F |
probably benign |
Het |
Ccdc162 |
A |
T |
10: 41,429,576 (GRCm39) |
|
probably null |
Het |
Ccdc162 |
A |
C |
10: 41,455,147 (GRCm39) |
S396A |
probably damaging |
Het |
Ces1e |
A |
T |
8: 93,928,034 (GRCm39) |
*562R |
probably null |
Het |
Clstn2 |
T |
A |
9: 97,338,484 (GRCm39) |
M892L |
probably benign |
Het |
Crybg3 |
T |
C |
16: 59,345,264 (GRCm39) |
T2673A |
possibly damaging |
Het |
Cstf3 |
A |
G |
2: 104,482,830 (GRCm39) |
N326S |
probably benign |
Het |
Cux1 |
G |
A |
5: 136,594,295 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
T |
G |
9: 86,922,456 (GRCm39) |
M155R |
probably benign |
Het |
D130043K22Rik |
A |
G |
13: 25,056,273 (GRCm39) |
D535G |
probably damaging |
Het |
Dnah2 |
G |
A |
11: 69,313,362 (GRCm39) |
P4266S |
probably damaging |
Het |
Dnah7a |
T |
A |
1: 53,682,654 (GRCm39) |
N272I |
probably benign |
Het |
Dsg2 |
A |
G |
18: 20,731,715 (GRCm39) |
Y779C |
possibly damaging |
Het |
Eif4g3 |
T |
A |
4: 137,854,054 (GRCm39) |
N507K |
probably benign |
Het |
Elavl4 |
T |
C |
4: 110,149,833 (GRCm39) |
Q3R |
probably null |
Het |
Engase |
T |
G |
11: 118,372,107 (GRCm39) |
I133S |
probably benign |
Het |
Ercc5 |
T |
C |
1: 44,219,782 (GRCm39) |
V1018A |
probably damaging |
Het |
Ext1 |
C |
A |
15: 52,939,213 (GRCm39) |
W612L |
probably damaging |
Het |
Faap100 |
T |
A |
11: 120,268,458 (GRCm39) |
E105V |
possibly damaging |
Het |
Fam8a1 |
G |
A |
13: 46,827,038 (GRCm39) |
A270T |
probably benign |
Het |
Fhdc1 |
T |
G |
3: 84,353,457 (GRCm39) |
Q589H |
probably benign |
Het |
Gatm |
G |
A |
2: 122,440,334 (GRCm39) |
T35I |
probably benign |
Het |
Gcgr |
T |
C |
11: 120,427,872 (GRCm39) |
I271T |
probably benign |
Het |
Gm527 |
T |
A |
12: 64,970,381 (GRCm39) |
Y239N |
probably damaging |
Het |
H2-Ab1 |
A |
G |
17: 34,486,358 (GRCm39) |
H139R |
possibly damaging |
Het |
Herc2 |
G |
A |
7: 55,877,574 (GRCm39) |
R4547Q |
possibly damaging |
Het |
Itga1 |
A |
T |
13: 115,171,839 (GRCm39) |
S89T |
probably benign |
Het |
Kash5 |
C |
A |
7: 44,839,078 (GRCm39) |
E53* |
probably null |
Het |
Katnip |
A |
G |
7: 125,471,356 (GRCm39) |
T1486A |
probably damaging |
Het |
Lrba |
A |
G |
3: 86,258,607 (GRCm39) |
M1365V |
probably benign |
Het |
Lrp1b |
A |
C |
2: 41,618,634 (GRCm39) |
|
probably null |
Het |
Map1a |
G |
A |
2: 121,132,867 (GRCm39) |
A990T |
probably damaging |
Het |
Micall2 |
C |
A |
5: 139,695,986 (GRCm39) |
L784F |
probably damaging |
Het |
Mmp9 |
T |
C |
2: 164,790,986 (GRCm39) |
|
probably null |
Het |
Mrps7 |
T |
A |
11: 115,495,655 (GRCm39) |
Y64* |
probably null |
Het |
Mslnl |
C |
T |
17: 25,957,942 (GRCm39) |
Q62* |
probably null |
Het |
Nfil3 |
A |
G |
13: 53,122,616 (GRCm39) |
L96P |
probably damaging |
Het |
Or2f1 |
A |
G |
6: 42,721,748 (GRCm39) |
Y259C |
probably damaging |
Het |
Phf3 |
T |
C |
1: 30,863,457 (GRCm39) |
D756G |
possibly damaging |
Het |
Plxnd1 |
C |
T |
6: 115,935,949 (GRCm39) |
|
probably null |
Het |
Prickle4 |
C |
T |
17: 48,000,982 (GRCm39) |
|
probably null |
Het |
Prr9 |
T |
A |
3: 92,030,356 (GRCm39) |
T95S |
possibly damaging |
Het |
Prrc2a |
A |
G |
17: 35,379,067 (GRCm39) |
|
probably null |
Het |
Prrt3 |
A |
G |
6: 113,474,520 (GRCm39) |
|
probably null |
Het |
Psme4 |
A |
T |
11: 30,826,806 (GRCm39) |
Y1775F |
probably damaging |
Het |
Pum2 |
T |
C |
12: 8,763,572 (GRCm39) |
V243A |
possibly damaging |
Het |
Rnf32 |
T |
C |
5: 29,408,145 (GRCm39) |
S125P |
probably damaging |
Het |
Rnf8 |
A |
G |
17: 29,845,604 (GRCm39) |
Y65C |
probably damaging |
Het |
Rph3a |
T |
C |
5: 121,086,833 (GRCm39) |
T456A |
possibly damaging |
Het |
Scaper |
T |
A |
9: 55,463,370 (GRCm39) |
Q854L |
probably null |
Het |
Sez6l2 |
T |
C |
7: 126,561,545 (GRCm39) |
S472P |
probably damaging |
Het |
Spsb3 |
T |
C |
17: 25,105,969 (GRCm39) |
|
probably benign |
Het |
Srebf2 |
A |
G |
15: 82,080,427 (GRCm39) |
D40G |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,437,408 (GRCm39) |
N1389D |
probably benign |
Het |
Taf4b |
G |
T |
18: 14,963,152 (GRCm39) |
A631S |
probably benign |
Het |
Tcstv1b |
T |
C |
13: 120,635,089 (GRCm39) |
S124P |
probably benign |
Het |
Tigd4 |
G |
A |
3: 84,501,970 (GRCm39) |
V296M |
possibly damaging |
Het |
Tsc22d2 |
T |
A |
3: 58,324,737 (GRCm39) |
|
probably benign |
Het |
Uso1 |
T |
A |
5: 92,315,194 (GRCm39) |
|
probably null |
Het |
Vmn2r6 |
T |
G |
3: 64,445,935 (GRCm39) |
N597H |
probably benign |
Het |
Zfc3h1 |
T |
A |
10: 115,248,026 (GRCm39) |
S1076R |
possibly damaging |
Het |
Zfp64 |
T |
A |
2: 168,748,885 (GRCm39) |
Q44L |
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 |
|
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 |
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'- ACTGACCCCGTACTATGCTC -3'
(R):5'- CAAGATAGATTTCTGTTGGCCC -3'
Sequencing Primer
(F):5'- GGAACCTCCACCTAACTTTGG -3'
(R):5'- GGCCCCTTTATCCCATATAAAATC -3'
|
Posted On |
2016-06-21 |