Incidental Mutation 'R0416:Ankrd44'
ID 40290
Institutional Source Beutler Lab
Gene Symbol Ankrd44
Ensembl Gene ENSMUSG00000052331
Gene Name ankyrin repeat domain 44
Synonyms E130014H08Rik
MMRRC Submission 038618-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R0416 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 54684499-54965546 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 54782498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 359 (I359L)
Ref Sequence ENSEMBL: ENSMUSP00000137616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044359] [ENSMUST00000178226] [ENSMUST00000179030]
AlphaFold B2RXR6
Predicted Effect probably benign
Transcript: ENSMUST00000044359
AA Change: I359L

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000040327
Gene: ENSMUSG00000052331
AA Change: I359L

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: ENSMUST00000177919
Predicted Effect probably benign
Transcript: ENSMUST00000178226
AA Change: I156L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000136802
Gene: ENSMUSG00000052331
AA Change: I156L

DomainStartEndE-ValueType
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: ENSMUST00000178935
Predicted Effect possibly damaging
Transcript: ENSMUST00000179030
AA Change: I359L

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000137616
Gene: ENSMUSG00000052331
AA Change: I359L

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: ENSMUST00000188243
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191996
Meta Mutation Damage Score 0.0942 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 91.8%
Validation Efficiency 99% (74/75)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A G 7: 119,162,779 (GRCm39) I18V probably benign Het
Adamdec1 T G 14: 68,806,161 (GRCm39) E438A possibly damaging Het
Adamts17 A G 7: 66,565,646 (GRCm39) probably null Het
Ap2s1 C A 7: 16,481,290 (GRCm39) N86K probably damaging Het
Arih1 T A 9: 59,333,993 (GRCm39) probably benign Het
Astn1 T A 1: 158,337,461 (GRCm39) I389N probably damaging Het
Brca2 T C 5: 150,492,857 (GRCm39) S3291P possibly damaging Het
Cacna1d T C 14: 29,822,645 (GRCm39) probably benign Het
Ccl7 C A 11: 81,936,692 (GRCm39) probably benign Het
Cd74 A T 18: 60,944,486 (GRCm39) Y232F possibly damaging Het
Cep128 A G 12: 91,197,641 (GRCm39) probably benign Het
Cep89 T A 7: 35,115,827 (GRCm39) probably benign Het
Cmya5 T G 13: 93,226,364 (GRCm39) N2908T probably benign Het
Coil T C 11: 88,872,812 (GRCm39) L391S possibly damaging Het
Cpd C T 11: 76,676,030 (GRCm39) V1208I probably benign Het
Ddx19a T C 8: 111,705,689 (GRCm39) D254G probably damaging Het
Desi2 T A 1: 178,083,887 (GRCm39) probably benign Het
Dnah11 A T 12: 117,874,793 (GRCm39) M4024K probably damaging Het
Ergic2 A T 6: 148,084,642 (GRCm39) L53H probably damaging Het
Etv2 T C 7: 30,334,058 (GRCm39) Y225C probably benign Het
F10 G A 8: 13,105,448 (GRCm39) A338T probably damaging Het
Fam228b T A 12: 4,812,382 (GRCm39) D132V probably damaging Het
Fat2 T A 11: 55,174,960 (GRCm39) I1918F possibly damaging Het
Fbxw5 C T 2: 25,393,251 (GRCm39) S214F probably damaging Het
Glyat G A 19: 12,628,817 (GRCm39) R204Q possibly damaging Het
Gm4825 T C 15: 85,395,182 (GRCm39) noncoding transcript Het
Ino80d G T 1: 63,125,435 (GRCm39) T9K possibly damaging Het
Lifr A T 15: 7,196,395 (GRCm39) D193V probably damaging Het
Lrp12 G T 15: 39,742,307 (GRCm39) probably benign Het
Lrp3 A G 7: 34,901,778 (GRCm39) V701A probably benign Het
Mfsd11 T A 11: 116,756,708 (GRCm39) probably benign Het
Mrto4 A T 4: 139,077,043 (GRCm39) probably null Het
Msi1 T C 5: 115,568,708 (GRCm39) F43L possibly damaging Het
Mthfsd T C 8: 121,827,976 (GRCm39) D168G probably damaging Het
Myo15a T A 11: 60,402,000 (GRCm39) V3099E probably damaging Het
Myrf T C 19: 10,193,176 (GRCm39) probably null Het
Nadk C A 4: 155,672,256 (GRCm39) probably benign Het
Nav1 T C 1: 135,398,864 (GRCm39) K573E possibly damaging Het
Ndufs3 A G 2: 90,728,732 (GRCm39) V207A probably damaging Het
Nlrp3 T C 11: 59,446,750 (GRCm39) probably benign Het
Nlrx1 T G 9: 44,174,211 (GRCm39) D330A probably benign Het
Or2a56 G A 6: 42,932,504 (GRCm39) C24Y probably benign Het
Or2t49 T C 11: 58,393,222 (GRCm39) I53M unknown Het
Osbpl3 C T 6: 50,324,998 (GRCm39) V167I probably benign Het
Pcnx1 A T 12: 82,021,240 (GRCm39) I1410F probably benign Het
Piezo2 G A 18: 63,157,562 (GRCm39) R2383C probably damaging Het
Pip5kl1 A T 2: 32,473,436 (GRCm39) K358* probably null Het
Polg T C 7: 79,101,988 (GRCm39) probably benign Het
Prr14l T A 5: 32,986,061 (GRCm39) I1145F probably benign Het
Psmb1 C T 17: 15,714,781 (GRCm39) V39I probably benign Het
Ptk6 T C 2: 180,844,101 (GRCm39) Y66C possibly damaging Het
Robo4 T C 9: 37,316,062 (GRCm39) probably benign Het
Sdk2 A G 11: 113,694,029 (GRCm39) Y1801H probably damaging Het
Serpinb3a C A 1: 106,977,116 (GRCm39) A95S probably benign Het
Setd1a CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG CTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG 7: 127,384,469 (GRCm39) probably benign Het
Sik2 A T 9: 50,906,932 (GRCm39) Y98N probably damaging Het
Slc30a1 C T 1: 191,641,838 (GRCm39) P495S probably benign Het
Smg1 A T 7: 117,783,684 (GRCm39) probably benign Het
Stk3 T A 15: 35,114,778 (GRCm39) I45L probably benign Het
Tapbp A G 17: 34,144,392 (GRCm39) T163A probably damaging Het
Tdrd5 T C 1: 156,113,051 (GRCm39) K410E probably damaging Het
Trim30b A T 7: 104,012,973 (GRCm39) M152K probably benign Het
Trpm6 G T 19: 18,760,389 (GRCm39) probably benign Het
Tsc22d1 T C 14: 76,742,743 (GRCm39) probably benign Het
U2surp A T 9: 95,367,660 (GRCm39) F444I probably damaging Het
Vmn2r95 C T 17: 18,661,664 (GRCm39) P470L probably damaging Het
Zc3h4 T G 7: 16,154,200 (GRCm39) Y163D probably damaging Het
Zfp62 A T 11: 49,106,503 (GRCm39) H198L probably damaging Het
Zmym1 A G 4: 126,952,613 (GRCm39) L56P probably benign 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
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 54,774,209 (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'- CCTCCTGGGCTCTGTCATTAAACTG -3'
(R):5'- GGAAAGTGAGCCATCTCCGTAACTG -3'

Sequencing Primer
(F):5'- GGCTCTGTCATTAAACTGCCTTC -3'
(R):5'- CAGGAAATCAATAGTTGGTGTTCCC -3'
Posted On 2013-05-23