Incidental Mutation 'R5306:Ankrd44'
ID 478094
Institutional Source Beutler Lab
Gene Symbol Ankrd44
Ensembl Gene ENSMUSG00000052331
Gene Name ankyrin repeat domain 44
Synonyms E130014H08Rik
MMRRC Submission 042889-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R5306 (G1)
Quality Score 65
Status Validated
Chromosome 1
Chromosomal Location 54684499-54965546 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) G to A at 54965362 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044359] [ENSMUST00000179030]
AlphaFold B2RXR6
Predicted Effect probably benign
Transcript: ENSMUST00000044359
SMART Domains Protein: ENSMUSP00000040327
Gene: ENSMUSG00000052331

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000178935
Predicted Effect probably benign
Transcript: ENSMUST00000179030
SMART Domains Protein: ENSMUSP00000137616
Gene: ENSMUSG00000052331

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (64/66)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T A 8: 56,324,792 (GRCm39) D554V probably damaging Het
Api5 A T 2: 94,253,811 (GRCm39) C297* probably null Het
Asb14 G A 14: 26,633,866 (GRCm39) C357Y probably damaging Het
Brd10 A G 19: 29,707,230 (GRCm39) probably benign Het
Brdt T A 5: 107,493,010 (GRCm39) D112E probably damaging Het
Capsl C A 15: 9,457,876 (GRCm39) Q32K probably benign Het
Ccdc106 A G 7: 5,061,096 (GRCm39) D81G probably damaging Het
Ccdc121rt3 T C 5: 112,502,910 (GRCm39) R265G probably benign Het
Cep104 C A 4: 154,090,699 (GRCm39) T884K probably benign Het
Cmbl T C 15: 31,582,215 (GRCm39) Y71H probably damaging Het
Crybg3 A T 16: 59,380,356 (GRCm39) probably benign Het
Dynlt1c T C 17: 6,869,210 (GRCm39) M1T probably null Het
Erbb2 T C 11: 98,319,032 (GRCm39) S574P probably benign Het
Exosc10 T C 4: 148,646,849 (GRCm39) V153A probably benign Het
Faxc G T 4: 21,931,557 (GRCm39) probably benign Het
Fcgbp A G 7: 27,791,243 (GRCm39) T835A probably damaging Het
Fmo5 G T 3: 97,549,076 (GRCm39) M241I probably benign Het
Gabra1 A C 11: 42,024,379 (GRCm39) I432S probably benign Het
Gfap A G 11: 102,786,574 (GRCm39) probably null Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm12185 T A 11: 48,806,382 (GRCm39) M270L probably benign Het
Gm14443 T C 2: 175,011,372 (GRCm39) N358S possibly damaging Het
Gpr3 C T 4: 132,938,490 (GRCm39) V61M probably damaging Het
Herc2 C T 7: 55,834,709 (GRCm39) T3229M probably damaging Het
Ifit3 A G 19: 34,565,207 (GRCm39) Y251C probably damaging Het
Inf2 G A 12: 112,567,987 (GRCm39) V180I probably benign Het
Ints11 T C 4: 155,959,665 (GRCm39) Y91H probably damaging Het
Ints4 A C 7: 97,158,885 (GRCm39) D419A probably damaging Het
Kmt2e T C 5: 23,704,331 (GRCm39) S1175P probably damaging Het
Mki67 A T 7: 135,315,730 (GRCm39) V44E probably damaging Het
Mrgprb13 A T 7: 47,961,940 (GRCm39) noncoding transcript Het
Myh2 T C 11: 67,077,382 (GRCm39) L839P probably damaging Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Or4l1 A G 14: 50,167,007 (GRCm39) probably benign Het
Or6c70 A C 10: 129,709,810 (GRCm39) I272R probably damaging Het
Pced1a T A 2: 130,261,091 (GRCm39) H422L probably benign Het
Plpp1 G T 13: 112,988,089 (GRCm39) probably null Het
Plxna4 T C 6: 32,183,056 (GRCm39) Y949C probably damaging Het
Polg2 G A 11: 106,669,796 (GRCm39) T158I probably damaging Het
Prss38 A T 11: 59,263,821 (GRCm39) I297K probably benign Het
Psph A G 5: 129,846,431 (GRCm39) L98P probably damaging Het
Rab11b G A 17: 33,979,243 (GRCm39) probably benign Het
Rsf1 CGGCGGC CGGCGGCGGGGGCGGC 7: 97,229,136 (GRCm39) probably benign Het
Serpine3 G A 14: 62,908,382 (GRCm39) A137T probably damaging Het
Sh3bp4 T C 1: 89,071,997 (GRCm39) F282L probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Slco2b1 T A 7: 99,338,198 (GRCm39) Y109F possibly damaging Het
Slfn10-ps T A 11: 82,926,355 (GRCm39) noncoding transcript Het
Smc5 A G 19: 23,237,009 (GRCm39) probably null Het
Smyd4 A G 11: 75,292,984 (GRCm39) N638S probably benign Het
Stxbp5 T C 10: 9,675,735 (GRCm39) E628G probably damaging Het
Tmem236 A T 2: 14,223,975 (GRCm39) K255* probably null Het
Ttc29 T A 8: 78,978,539 (GRCm39) probably null Het
Tyr A G 7: 87,087,222 (GRCm39) I430T probably damaging Het
Uckl1 A G 2: 181,216,160 (GRCm39) probably null Het
Vmn2r52 A C 7: 9,904,672 (GRCm39) I389R possibly damaging Het
Wdr62 A T 7: 29,964,688 (GRCm39) F352Y possibly damaging Het
Wdr70 T C 15: 7,953,754 (GRCm39) D379G probably benign Het
Zfp408 T A 2: 91,476,690 (GRCm39) M155L probably benign Het
Zfp459 T A 13: 67,561,249 (GRCm39) Q66H probably damaging Het
Zfp870 C A 17: 33,102,627 (GRCm39) G234V probably damaging Het
Other mutations in Ankrd44
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AAGATAGCCTATTGCACGGGAG -3'
(R):5'- CACTTCCTGTATAAAGGCGGG -3'

Sequencing Primer
(F):5'- TGACTGCTCCTGAGTGCAC -3'
(R):5'- TGTATAAAGGCGGGCGGGC -3'
Posted On 2017-05-23