Incidental Mutation 'R6332:Ankrd44'
ID |
513146 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd44
|
Ensembl Gene |
ENSMUSG00000052331 |
Gene Name |
ankyrin repeat domain 44 |
Synonyms |
E130014H08Rik |
MMRRC Submission |
044486-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R6332 (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 54801432 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 298
(D298E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137616
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044359]
[ENSMUST00000177679]
[ENSMUST00000178226]
[ENSMUST00000179030]
|
AlphaFold |
B2RXR6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044359
AA Change: D298E
PolyPhen 2
Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000040327 Gene: ENSMUSG00000052331 AA Change: D298E
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
|
SMART Domains |
Protein: ENSMUSP00000137216 Gene: ENSMUSG00000052331
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: ENSMUST00000177919
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178226
AA Change: D95E
PolyPhen 2
Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000136802 Gene: ENSMUSG00000052331 AA Change: D95E
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 |
noncoding transcript
Transcript: ENSMUST00000178905
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178935
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000179030
AA Change: D298E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137616 Gene: ENSMUSG00000052331 AA Change: D298E
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188243
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180189
|
Meta Mutation Damage Score |
0.0974 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
Validation Efficiency |
99% (67/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933421I07Rik |
C |
A |
7: 42,095,667 (GRCm39) |
G194C |
possibly damaging |
Het |
Adamtsl1 |
A |
G |
4: 86,135,248 (GRCm39) |
K258E |
probably damaging |
Het |
Afdn |
A |
T |
17: 14,030,707 (GRCm39) |
D206V |
possibly damaging |
Het |
Agt |
G |
T |
8: 125,284,572 (GRCm39) |
Q389K |
possibly damaging |
Het |
Anks1 |
A |
G |
17: 28,271,709 (GRCm39) |
S897G |
probably benign |
Het |
Apol9b |
A |
G |
15: 77,619,746 (GRCm39) |
|
probably null |
Het |
Baz1a |
T |
C |
12: 54,965,339 (GRCm39) |
E705G |
probably benign |
Het |
BC048679 |
C |
T |
7: 81,144,966 (GRCm39) |
V126M |
probably benign |
Het |
Cep295 |
A |
G |
9: 15,246,210 (GRCm39) |
F749L |
possibly damaging |
Het |
Cntrl |
T |
A |
2: 35,018,036 (GRCm39) |
I482K |
possibly damaging |
Het |
Col6a3 |
A |
G |
1: 90,749,955 (GRCm39) |
F293S |
probably damaging |
Het |
Dnah12 |
T |
G |
14: 26,439,129 (GRCm39) |
M527R |
probably damaging |
Het |
Dnhd1 |
G |
A |
7: 105,343,273 (GRCm39) |
R1539H |
probably benign |
Het |
Ece1 |
A |
G |
4: 137,685,319 (GRCm39) |
Y603C |
probably damaging |
Het |
Eea1 |
G |
A |
10: 95,877,335 (GRCm39) |
A1350T |
possibly damaging |
Het |
Exoc3l4 |
A |
T |
12: 111,394,402 (GRCm39) |
K507N |
possibly damaging |
Het |
Flt3l |
A |
T |
7: 44,783,091 (GRCm39) |
|
probably null |
Het |
Fn1 |
T |
C |
1: 71,667,230 (GRCm39) |
Q834R |
probably benign |
Het |
Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
Hycc2 |
T |
A |
1: 58,569,034 (GRCm39) |
Y515F |
probably damaging |
Het |
Ifih1 |
T |
C |
2: 62,469,827 (GRCm39) |
N157D |
possibly damaging |
Het |
Itga2 |
A |
C |
13: 114,980,009 (GRCm39) |
M1064R |
probably benign |
Het |
Itgae |
A |
G |
11: 73,002,228 (GRCm39) |
|
probably null |
Het |
Krtap10-4 |
T |
C |
10: 77,662,883 (GRCm39) |
|
probably benign |
Het |
Lamp3 |
A |
G |
16: 19,518,431 (GRCm39) |
C269R |
probably damaging |
Het |
Lrp5 |
T |
C |
19: 3,709,355 (GRCm39) |
D125G |
probably damaging |
Het |
Matn2 |
A |
C |
15: 34,423,901 (GRCm39) |
E586D |
probably benign |
Het |
Mef2b |
T |
A |
8: 70,616,789 (GRCm39) |
|
probably null |
Het |
Mrps22 |
A |
G |
9: 98,483,524 (GRCm39) |
|
probably null |
Het |
Mtmr2 |
T |
C |
9: 13,711,325 (GRCm39) |
F445L |
probably damaging |
Het |
Nxph4 |
A |
G |
10: 127,362,237 (GRCm39) |
V218A |
probably damaging |
Het |
Or1e23 |
A |
G |
11: 73,408,001 (GRCm39) |
V8A |
probably benign |
Het |
Or4f57 |
C |
T |
2: 111,791,091 (GRCm39) |
G109D |
probably damaging |
Het |
Or51k1 |
A |
G |
7: 103,660,980 (GRCm39) |
S310P |
probably benign |
Het |
Pdpk1 |
A |
T |
17: 24,325,896 (GRCm39) |
V100D |
probably damaging |
Het |
Phldb2 |
A |
C |
16: 45,594,609 (GRCm39) |
S899A |
probably benign |
Het |
Pnpla3 |
G |
A |
15: 84,056,983 (GRCm39) |
|
probably null |
Het |
Rasal2 |
A |
G |
1: 157,126,757 (GRCm39) |
Y94H |
probably damaging |
Het |
Rlf |
A |
T |
4: 121,006,019 (GRCm39) |
I987N |
possibly damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rprd2 |
A |
G |
3: 95,687,753 (GRCm39) |
Y300H |
probably damaging |
Het |
Setbp1 |
G |
A |
18: 78,826,584 (GRCm39) |
S1343L |
probably benign |
Het |
Sfswap |
A |
G |
5: 129,648,105 (GRCm39) |
K938E |
possibly damaging |
Het |
Shld2 |
A |
G |
14: 33,990,129 (GRCm39) |
V259A |
probably benign |
Het |
Slc3a1 |
A |
C |
17: 85,335,860 (GRCm39) |
M1L |
probably damaging |
Het |
Slco5a1 |
C |
T |
1: 12,991,409 (GRCm39) |
V427I |
probably benign |
Het |
Ssbp2 |
A |
T |
13: 91,839,027 (GRCm39) |
M300L |
probably benign |
Het |
Ssc5d |
A |
G |
7: 4,940,521 (GRCm39) |
D878G |
probably damaging |
Het |
Stk19 |
A |
G |
17: 35,043,574 (GRCm39) |
L212P |
probably damaging |
Het |
Stk39 |
T |
C |
2: 68,240,387 (GRCm39) |
M115V |
possibly damaging |
Het |
Syt17 |
A |
C |
7: 118,033,466 (GRCm39) |
S181A |
probably benign |
Het |
Taar7b |
A |
T |
10: 23,875,849 (GRCm39) |
N5Y |
probably benign |
Het |
Tmc4 |
A |
G |
7: 3,680,421 (GRCm39) |
|
probably null |
Het |
Tmem248 |
T |
A |
5: 130,258,310 (GRCm39) |
M1K |
probably null |
Het |
Tmem82 |
T |
A |
4: 141,343,721 (GRCm39) |
Q183L |
probably damaging |
Het |
Tpd52l1 |
T |
C |
10: 31,214,203 (GRCm39) |
E142G |
probably damaging |
Het |
Ttll2 |
A |
T |
17: 7,619,167 (GRCm39) |
H253Q |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,687,808 (GRCm39) |
|
probably benign |
Het |
Ubd |
A |
G |
17: 37,506,392 (GRCm39) |
K93E |
probably benign |
Het |
Ugt2b35 |
T |
A |
5: 87,149,415 (GRCm39) |
F222Y |
probably damaging |
Het |
Vmn2r10 |
G |
T |
5: 109,151,328 (GRCm39) |
N95K |
probably damaging |
Het |
Vwa8 |
T |
C |
14: 79,434,904 (GRCm39) |
V1775A |
probably benign |
Het |
Zdbf2 |
A |
G |
1: 63,346,981 (GRCm39) |
K1787E |
possibly damaging |
Het |
Zfp26 |
A |
T |
9: 20,348,582 (GRCm39) |
F661I |
probably damaging |
Het |
Zfp735 |
A |
T |
11: 73,602,504 (GRCm39) |
K483* |
probably null |
Het |
Zfp946 |
A |
G |
17: 22,673,519 (GRCm39) |
E91G |
probably damaging |
Het |
Zic5 |
C |
A |
14: 122,697,161 (GRCm39) |
D485Y |
unknown |
Het |
Zmynd8 |
A |
T |
2: 165,680,772 (GRCm39) |
D236E |
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 |
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'- GAGGCGACCCAACTATTTCC -3'
(R):5'- GCTCCAGTGATTTTAATTGCCC -3'
Sequencing Primer
(F):5'- TATTTCCACAGCATCTCAATCCAGGG -3'
(R):5'- CCAGTGATTTTAATTGCCCTTGTTG -3'
|
Posted On |
2018-04-27 |