Incidental Mutation 'RF021:Ankrd44'
| ID |
603855 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd44
|
| Ensembl Gene |
ENSMUSG00000052331 |
| Gene Name |
ankyrin repeat domain 44 |
| Synonyms |
E130014H08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
RF021 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
54645340-54926387 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 54778312 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 79
(H79R)
|
| 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: H79R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040327
Gene: ENSMUSG00000052331
AA Change: H79R
| 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: H54R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137216
Gene: ENSMUSG00000052331
AA Change: H54R
| 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: H79R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137616
Gene: ENSMUSG00000052331
AA Change: H79R
| 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: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.3%
|
| Validation Efficiency |
91% (50/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
GTGGTGGCTG |
GTGGTGGCTGTGGTGGCTG |
1: 82,913,569 (GRCm38) |
|
probably benign |
Het |
| AI837181 |
CGG |
CGGTGG |
19: 5,425,234 (GRCm38) |
|
probably benign |
Het |
| Atg9a |
T |
A |
1: 75,182,629 (GRCm38) |
E826V |
probably damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,642,473 (GRCm38) |
V224A |
probably benign |
Het |
| Bltp1 |
TTATTATTATTAT |
TTATTATTATTATTAATATTATTATTAT |
3: 37,050,748 (GRCm38) |
|
probably benign |
Het |
| Cpn2 |
G |
A |
16: 30,259,338 (GRCm38) |
A515V |
probably benign |
Het |
| Cyp2a12 |
T |
C |
7: 27,035,360 (GRCm38) |
F402S |
possibly damaging |
Het |
| Defb22 |
TGCGGCA |
TGCGGCAGAGCTGGGCGTTGCGGCA |
2: 152,485,832 (GRCm38) |
|
probably benign |
Het |
| Dnah10 |
G |
T |
5: 124,777,907 (GRCm38) |
V2016F |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,564,573 (GRCm38) |
|
probably null |
Het |
| Efhd2 |
GCC |
GCCGCCCCC |
4: 141,874,773 (GRCm38) |
|
probably benign |
Het |
| Fam131a |
A |
C |
16: 20,694,940 (GRCm38) |
|
probably benign |
Het |
| Gm7247 |
AGACCAGACC |
A |
14: 51,364,324 (GRCm38) |
|
probably benign |
Het |
| Gna13 |
T |
C |
11: 109,392,392 (GRCm38) |
V186A |
probably benign |
Het |
| Grk3 |
T |
A |
5: 112,941,688 (GRCm38) |
I333L |
probably benign |
Het |
| Gstp1 |
A |
T |
19: 4,035,507 (GRCm38) |
V200E |
probably benign |
Het |
| Gtf2h1 |
T |
G |
7: 46,803,865 (GRCm38) |
V74G |
possibly damaging |
Het |
| Kcnh8 |
G |
A |
17: 52,978,239 (GRCm38) |
R1079H |
probably benign |
Het |
| Kiz |
A |
G |
2: 146,870,830 (GRCm38) |
D138G |
possibly damaging |
Het |
| Kmt2b |
TTCTCCT |
TTCTCCTTCTCCT |
7: 30,586,357 (GRCm38) |
|
probably benign |
Het |
| Lats1 |
A |
G |
10: 7,710,608 (GRCm38) |
T912A |
probably damaging |
Het |
| Lce1m |
TGCC |
TGCCGCCGCTGCCGCC |
3: 93,018,295 (GRCm38) |
|
probably benign |
Het |
| Lce1m |
GCTGCCACC |
GCTGCCACCACTTCTGCCACC |
3: 93,018,269 (GRCm38) |
|
probably benign |
Het |
| Lrrc2 |
TTGATTCGGTTCACC |
T |
9: 110,981,676 (GRCm38) |
|
probably null |
Het |
| Med12l |
T |
C |
3: 59,073,290 (GRCm38) |
F359S |
probably benign |
Het |
| Mmut |
A |
G |
17: 40,951,758 (GRCm38) |
I444V |
probably benign |
Het |
| Ncoa2 |
CTTAAAA |
C |
1: 13,149,109 (GRCm38) |
|
probably benign |
Het |
| Ngp |
A |
G |
9: 110,421,756 (GRCm38) |
T114A |
possibly damaging |
Het |
| Nlrc5 |
A |
T |
8: 94,476,888 (GRCm38) |
T539S |
probably benign |
Het |
| Nxf1 |
A |
G |
19: 8,772,309 (GRCm38) |
D190G |
probably damaging |
Het |
| Or6c2b |
A |
T |
10: 129,112,342 (GRCm38) |
F28I |
probably damaging |
Het |
| Or8g2 |
A |
T |
9: 39,910,045 (GRCm38) |
M81L |
probably benign |
Het |
| Pramel16 |
C |
G |
4: 143,948,908 (GRCm38) |
Q449H |
probably damaging |
Het |
| Prdm15 |
G |
A |
16: 97,808,756 (GRCm38) |
H563Y |
probably damaging |
Het |
| Rbm12 |
CAGG |
CAGGGATTGCGGGACCTGGTATTGCGGGACCAGG |
2: 156,096,106 (GRCm38) |
|
probably benign |
Het |
| Sema3g |
C |
T |
14: 31,227,841 (GRCm38) |
H660Y |
probably damaging |
Het |
| Slco1a8 |
A |
T |
6: 142,008,714 (GRCm38) |
V31E |
probably damaging |
Het |
| Smarca2 |
AGCAGCAGCAGCAGCAGCAGCA |
AGCAGCAGCAGCAGCAGCAGCAGCAGCA |
19: 26,630,997 (GRCm38) |
|
probably benign |
Het |
| Stpg2 |
A |
T |
3: 139,212,250 (GRCm38) |
|
probably null |
Het |
| Taar7f |
C |
T |
10: 24,050,423 (GRCm38) |
T305M |
possibly damaging |
Het |
| Tbcb |
C |
T |
7: 30,224,346 (GRCm38) |
V208M |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 36,024,203 (GRCm38) |
Q2169L |
possibly damaging |
Het |
| Tln1 |
A |
G |
4: 43,555,890 (GRCm38) |
V108A |
probably damaging |
Het |
| Tmc8 |
T |
C |
11: 117,783,234 (GRCm38) |
M42T |
probably benign |
Het |
| Trdc |
T |
C |
14: 54,144,203 (GRCm38) |
V115A |
|
Het |
| Ttbk2 |
A |
G |
2: 120,748,634 (GRCm38) |
V669A |
probably benign |
Het |
| Tusc1 |
GCC |
GCCACCACC |
4: 93,335,316 (GRCm38) |
|
probably benign |
Het |
| Utp25 |
A |
G |
1: 193,120,666 (GRCm38) |
F248L |
probably benign |
Het |
| Vps16 |
A |
G |
2: 130,438,209 (GRCm38) |
H118R |
probably benign |
Het |
| Wdpcp |
T |
A |
11: 21,711,587 (GRCm38) |
C286* |
probably null |
Het |
| Zbed4 |
C |
A |
15: 88,781,236 (GRCm38) |
Y502* |
probably null |
Het |
| Zdbf2 |
T |
A |
1: 63,302,652 (GRCm38) |
N63K |
possibly damaging |
Het |
|
| Other mutations in Ankrd44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00578:Ankrd44
|
APN |
1 |
54,662,647 (GRCm38) |
splice site |
probably benign |
|
|
IGL00839:Ankrd44
|
APN |
1 |
54,667,435 (GRCm38) |
missense |
probably benign |
0.27 |
|
IGL01145:Ankrd44
|
APN |
1 |
54,762,259 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01380:Ankrd44
|
APN |
1 |
54,727,565 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01415:Ankrd44
|
APN |
1 |
54,752,928 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01958:Ankrd44
|
APN |
1 |
54,766,966 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02014:Ankrd44
|
APN |
1 |
54,657,620 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02745:Ankrd44
|
APN |
1 |
54,766,791 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03008:Ankrd44
|
APN |
1 |
54,766,809 (GRCm38) |
missense |
probably damaging |
1.00 |
|
wilderness
|
UTSW |
1 |
54,735,034 (GRCm38) |
synonymous |
silent |
|
|
PIT4812001:Ankrd44
|
UTSW |
1 |
54,723,038 (GRCm38) |
nonsense |
probably null |
|
|
R0416:Ankrd44
|
UTSW |
1 |
54,743,339 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R0554:Ankrd44
|
UTSW |
1 |
54,763,758 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0575:Ankrd44
|
UTSW |
1 |
54,762,310 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1323:Ankrd44
|
UTSW |
1 |
54,766,450 (GRCm38) |
splice site |
probably benign |
|
|
R1605:Ankrd44
|
UTSW |
1 |
54,828,622 (GRCm38) |
missense |
probably benign |
0.36 |
|
R2032:Ankrd44
|
UTSW |
1 |
54,723,009 (GRCm38) |
splice site |
probably null |
|
|
R4458:Ankrd44
|
UTSW |
1 |
54,762,391 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4610:Ankrd44
|
UTSW |
1 |
54,766,748 (GRCm38) |
intron |
probably benign |
|
|
R4727:Ankrd44
|
UTSW |
1 |
54,667,417 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4780:Ankrd44
|
UTSW |
1 |
54,763,757 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4801:Ankrd44
|
UTSW |
1 |
54,762,316 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4802:Ankrd44
|
UTSW |
1 |
54,762,316 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4810:Ankrd44
|
UTSW |
1 |
54,735,143 (GRCm38) |
intron |
probably benign |
|
|
R4961:Ankrd44
|
UTSW |
1 |
54,663,912 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5053:Ankrd44
|
UTSW |
1 |
54,735,089 (GRCm38) |
nonsense |
probably null |
|
|
R5093:Ankrd44
|
UTSW |
1 |
54,763,718 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5155:Ankrd44
|
UTSW |
1 |
54,778,330 (GRCm38) |
missense |
probably benign |
0.43 |
|
R5248:Ankrd44
|
UTSW |
1 |
54,667,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5306:Ankrd44
|
UTSW |
1 |
54,926,203 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R5595:Ankrd44
|
UTSW |
1 |
54,762,347 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5595:Ankrd44
|
UTSW |
1 |
54,735,050 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6288:Ankrd44
|
UTSW |
1 |
54,763,763 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6332:Ankrd44
|
UTSW |
1 |
54,762,273 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6453:Ankrd44
|
UTSW |
1 |
54,657,704 (GRCm38) |
splice site |
probably null |
|
|
R6610:Ankrd44
|
UTSW |
1 |
54,655,087 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6699:Ankrd44
|
UTSW |
1 |
54,762,445 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6905:Ankrd44
|
UTSW |
1 |
54,792,494 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7173:Ankrd44
|
UTSW |
1 |
54,766,391 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7178:Ankrd44
|
UTSW |
1 |
54,649,440 (GRCm38) |
missense |
|
|
|
R7219:Ankrd44
|
UTSW |
1 |
54,766,910 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7276:Ankrd44
|
UTSW |
1 |
54,735,080 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7283:Ankrd44
|
UTSW |
1 |
54,729,796 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7414:Ankrd44
|
UTSW |
1 |
54,667,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7490:Ankrd44
|
UTSW |
1 |
54,648,300 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7501:Ankrd44
|
UTSW |
1 |
54,649,363 (GRCm38) |
missense |
|
|
|
R7515:Ankrd44
|
UTSW |
1 |
54,766,355 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7527:Ankrd44
|
UTSW |
1 |
54,648,324 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7807:Ankrd44
|
UTSW |
1 |
54,792,476 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8164:Ankrd44
|
UTSW |
1 |
54,663,979 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8247:Ankrd44
|
UTSW |
1 |
54,752,943 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8408:Ankrd44
|
UTSW |
1 |
54,723,098 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8859:Ankrd44
|
UTSW |
1 |
54,667,521 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8963:Ankrd44
|
UTSW |
1 |
54,762,379 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8971:Ankrd44
|
UTSW |
1 |
54,653,793 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8987:Ankrd44
|
UTSW |
1 |
54,661,190 (GRCm38) |
nonsense |
probably null |
|
|
R9354:Ankrd44
|
UTSW |
1 |
54,648,279 (GRCm38) |
makesense |
probably null |
|
|
Z1088:Ankrd44
|
UTSW |
1 |
54,658,982 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGACCCCGTACTATGCTC -3'
(R):5'- ACAAGATAGATTTCTGTTGGCCC -3'
Sequencing Primer
(F):5'- GGAACCTCCACCTAACTTTGG -3'
(R):5'- GGCCCCTTTATCCCATATAAAATC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation