Incidental Mutation 'R8247:Ankrd44'
ID |
640675 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd44
|
Ensembl Gene |
ENSMUSG00000052331 |
Gene Name |
ankyrin repeat domain 44 |
Synonyms |
E130014H08Rik |
MMRRC Submission |
067674-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R8247 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
54684499-54965546 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 54792102 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 311
(H311R)
|
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: H311R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040327 Gene: ENSMUSG00000052331 AA Change: H311R
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: H108R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136802 Gene: ENSMUSG00000052331 AA Change: H108R
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: H311R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137616 Gene: ENSMUSG00000052331 AA Change: H311R
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: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
99% (69/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730596B20Rik |
T |
C |
6: 52,155,942 (GRCm39) |
S3P |
unknown |
Het |
Abca15 |
A |
T |
7: 119,936,445 (GRCm39) |
Y170F |
possibly damaging |
Het |
Alpl |
C |
T |
4: 137,473,764 (GRCm39) |
V313M |
probably damaging |
Het |
Atm |
A |
T |
9: 53,361,870 (GRCm39) |
L2749Q |
|
Het |
Bicd2 |
C |
T |
13: 49,533,462 (GRCm39) |
R683W |
probably damaging |
Het |
Brat1 |
C |
A |
5: 140,698,893 (GRCm39) |
P342T |
possibly damaging |
Het |
Camta1 |
T |
A |
4: 151,159,721 (GRCm39) |
T482S |
probably damaging |
Het |
Carhsp1 |
A |
G |
16: 8,481,535 (GRCm39) |
V67A |
probably damaging |
Het |
Carmil1 |
T |
A |
13: 24,282,998 (GRCm39) |
N512I |
probably damaging |
Het |
Ccdc126 |
C |
T |
6: 49,316,775 (GRCm39) |
T85M |
probably damaging |
Het |
Cd274 |
C |
T |
19: 29,362,795 (GRCm39) |
Q286* |
probably null |
Het |
Cep192 |
T |
A |
18: 67,974,188 (GRCm39) |
I1097N |
probably benign |
Het |
Cimip4 |
A |
C |
15: 78,262,992 (GRCm39) |
S221A |
probably benign |
Het |
Clvs1 |
A |
T |
4: 9,281,885 (GRCm39) |
N110Y |
possibly damaging |
Het |
Cntln |
A |
G |
4: 85,019,017 (GRCm39) |
T102A |
probably benign |
Het |
Cp |
A |
C |
3: 20,020,570 (GRCm39) |
I188L |
possibly damaging |
Het |
Crh |
A |
G |
3: 19,748,291 (GRCm39) |
L117P |
probably benign |
Het |
Dcaf1 |
A |
T |
9: 106,731,427 (GRCm39) |
I635F |
possibly damaging |
Het |
Dennd2c |
A |
G |
3: 103,059,637 (GRCm39) |
D521G |
probably damaging |
Het |
E2f2 |
C |
T |
4: 135,900,126 (GRCm39) |
T12M |
possibly damaging |
Het |
Eid2 |
G |
A |
7: 27,967,972 (GRCm39) |
R198H |
probably damaging |
Het |
Exosc4 |
G |
T |
15: 76,213,279 (GRCm39) |
C74F |
probably damaging |
Het |
Fanca |
A |
T |
8: 124,010,694 (GRCm39) |
|
probably benign |
Het |
Ganc |
A |
T |
2: 120,267,181 (GRCm39) |
Q499L |
probably null |
Het |
Gfy |
T |
C |
7: 44,827,710 (GRCm39) |
T129A |
possibly damaging |
Het |
Gli3 |
G |
T |
13: 15,901,360 (GRCm39) |
M1582I |
possibly damaging |
Het |
Gm4744 |
A |
G |
6: 40,926,402 (GRCm39) |
S63P |
|
Het |
Htr2b |
T |
C |
1: 86,027,817 (GRCm39) |
T230A |
probably benign |
Het |
Iqcb1 |
T |
A |
16: 36,678,836 (GRCm39) |
N383K |
probably benign |
Het |
Lpcat1 |
A |
T |
13: 73,662,071 (GRCm39) |
I471F |
probably damaging |
Het |
Lrch3 |
T |
G |
16: 32,829,713 (GRCm39) |
L781* |
probably null |
Het |
Lrif1 |
T |
A |
3: 106,641,692 (GRCm39) |
S3T |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,261,431 (GRCm39) |
R4503S |
possibly damaging |
Het |
Lrrc8c |
T |
C |
5: 105,756,310 (GRCm39) |
I695T |
probably damaging |
Het |
Mak |
G |
A |
13: 41,193,146 (GRCm39) |
T473M |
possibly damaging |
Het |
Map2k5 |
A |
T |
9: 63,279,019 (GRCm39) |
Y62N |
probably damaging |
Het |
Mbd3l2 |
T |
C |
9: 18,356,299 (GRCm39) |
L208P |
probably damaging |
Het |
Myo18b |
T |
C |
5: 112,840,062 (GRCm39) |
E2577G |
probably damaging |
Het |
Nfia |
A |
T |
4: 97,953,644 (GRCm39) |
T461S |
probably benign |
Het |
Oaz3 |
A |
G |
3: 94,343,741 (GRCm39) |
Y41H |
probably damaging |
Het |
Or10ab5 |
T |
A |
7: 108,245,370 (GRCm39) |
I138F |
probably damaging |
Het |
Or1p1 |
C |
A |
11: 74,180,315 (GRCm39) |
T281K |
noncoding transcript |
Het |
Or2ad1 |
A |
G |
13: 21,326,295 (GRCm39) |
S311P |
probably benign |
Het |
Or51m1 |
T |
C |
7: 103,578,783 (GRCm39) |
V251A |
possibly damaging |
Het |
Pin1rt1 |
T |
C |
2: 104,544,892 (GRCm39) |
E80G |
probably damaging |
Het |
Pmpcb |
T |
C |
5: 21,961,852 (GRCm39) |
Y457H |
probably damaging |
Het |
Polr2b |
T |
C |
5: 77,468,062 (GRCm39) |
S121P |
possibly damaging |
Het |
Ppm1e |
C |
T |
11: 87,122,101 (GRCm39) |
G619R |
probably benign |
Het |
Pramel5 |
T |
A |
4: 143,999,395 (GRCm39) |
M231L |
probably damaging |
Het |
Prex2 |
G |
T |
1: 11,270,194 (GRCm39) |
C1293F |
probably benign |
Het |
Psg20 |
A |
G |
7: 18,416,562 (GRCm39) |
F185L |
probably benign |
Het |
Psg28 |
A |
G |
7: 18,156,864 (GRCm39) |
V457A |
probably benign |
Het |
Pxmp2 |
A |
G |
5: 110,422,445 (GRCm39) |
L188P |
probably damaging |
Het |
Scd3 |
A |
T |
19: 44,227,003 (GRCm39) |
N279I |
possibly damaging |
Het |
Scg2 |
T |
G |
1: 79,414,236 (GRCm39) |
K162N |
possibly damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,149,372 (GRCm39) |
E1629G |
probably benign |
Het |
Slc27a2 |
T |
A |
2: 126,395,515 (GRCm39) |
F147L |
probably benign |
Het |
Smco1 |
T |
C |
16: 32,092,557 (GRCm39) |
V76A |
probably benign |
Het |
Spic |
T |
C |
10: 88,511,923 (GRCm39) |
K111R |
probably damaging |
Het |
Spidr |
A |
G |
16: 15,786,390 (GRCm39) |
|
probably null |
Het |
Sptbn1 |
T |
A |
11: 30,063,906 (GRCm39) |
I1971F |
possibly damaging |
Het |
Stard8 |
C |
T |
X: 98,109,570 (GRCm39) |
S155L |
probably benign |
Het |
Tiam1 |
G |
A |
16: 89,695,037 (GRCm39) |
T140M |
probably benign |
Het |
Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
Ufl1 |
T |
C |
4: 25,250,606 (GRCm39) |
E749G |
probably benign |
Het |
Vmn1r168 |
G |
T |
7: 23,240,487 (GRCm39) |
V115F |
possibly damaging |
Het |
Wars2 |
G |
A |
3: 99,094,965 (GRCm39) |
V87I |
probably benign |
Het |
Zdhhc14 |
T |
A |
17: 5,736,031 (GRCm39) |
C170S |
probably damaging |
Het |
Zfp113 |
C |
T |
5: 138,143,296 (GRCm39) |
C318Y |
possibly damaging |
Het |
Zfp367 |
A |
G |
13: 64,300,482 (GRCm39) |
S108P |
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 |
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 |
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 |
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'- GAAACCCACGCTTGCTAAAG -3'
(R):5'- TGAGCAAATCAGCCCTCTCG -3'
Sequencing Primer
(F):5'- GCCCAAACACAGCATCGATTTTTATG -3'
(R):5'- TCTGGGAAACAGTTGCCCTG -3'
|
Posted On |
2020-07-28 |