Incidental Mutation 'R6905:Ankrd44'
ID 538714
Institutional Source Beutler Lab
Gene Symbol Ankrd44
Ensembl Gene ENSMUSG00000052331
Gene Name ankyrin repeat domain 44
Synonyms E130014H08Rik
MMRRC Submission 044997-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R6905 (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 G at 54831653 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 50 (F50S)
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: F50S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040327
Gene: ENSMUSG00000052331
AA Change: F50S

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 probably damaging
Transcript: ENSMUST00000177679
AA Change: F25S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137216
Gene: ENSMUSG00000052331
AA Change: F25S

DomainStartEndE-ValueType
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: F50S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137616
Gene: ENSMUSG00000052331
AA Change: F50S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.8%
Validation Efficiency 98% (44/45)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025G04Rik G T 1: 151,856,189 (GRCm39) N59K probably damaging Het
Abi3bp A G 16: 56,394,880 (GRCm39) D196G probably damaging Het
Arid4a C T 12: 71,108,318 (GRCm39) A41V probably benign Het
Cdk11b A T 4: 155,726,065 (GRCm39) probably benign Het
Chrm5 C A 2: 112,309,901 (GRCm39) C405F probably benign Het
Cimip2a A G 2: 25,110,491 (GRCm39) I100V probably benign Het
Col6a4 A T 9: 105,937,517 (GRCm39) probably null Het
Copb1 A C 7: 113,853,125 (GRCm39) I24S probably benign Het
Ctsh A T 9: 89,944,819 (GRCm39) K83N probably damaging Het
Dgkd A G 1: 87,863,097 (GRCm39) E48G probably damaging Het
Dis3l2 A G 1: 86,972,561 (GRCm39) T657A probably benign Het
Flrt1 T A 19: 7,072,757 (GRCm39) K597* probably null Het
Ifit1bl2 T C 19: 34,596,990 (GRCm39) S209G possibly damaging Het
Ifrd2 T C 9: 107,465,089 (GRCm39) M1T probably null Het
Ighv8-12 T C 12: 115,611,705 (GRCm39) Y73C probably benign Het
Klhl21 C A 4: 152,094,184 (GRCm39) A262E probably benign Het
L3mbtl4 A T 17: 69,084,883 (GRCm39) Y598F probably benign Het
Lad1 A G 1: 135,755,618 (GRCm39) K298R probably benign Het
Map2k2 A G 10: 80,944,701 (GRCm39) D71G probably damaging Het
Megf8 T A 7: 25,037,357 (GRCm39) H752Q probably benign Het
Mms22l A T 4: 24,503,107 (GRCm39) M200L probably benign Het
Mup5 C A 4: 61,751,340 (GRCm39) D103Y possibly damaging Het
Nes C T 3: 87,885,985 (GRCm39) P1371S probably damaging Het
Or4c10b A T 2: 89,712,052 (GRCm39) D294V probably benign Het
Or4f14c A T 2: 111,940,703 (GRCm39) M298K probably damaging Het
Or52z14 A T 7: 103,253,574 (GRCm39) T238S probably benign Het
Osbpl3 T C 6: 50,328,862 (GRCm39) I114V probably damaging Het
Pank3 T C 11: 35,667,239 (GRCm39) Y119H probably benign Het
Pcdhb15 C T 18: 37,607,748 (GRCm39) L327F possibly damaging Het
Pnpla8 T C 12: 44,330,336 (GRCm39) V78A probably damaging Het
Rbm14 A G 19: 4,853,264 (GRCm39) probably benign Het
Rev3l G A 10: 39,693,323 (GRCm39) V468M probably benign Het
Ripk1 A G 13: 34,211,973 (GRCm39) I428V probably benign Het
Rps5 T C 7: 12,659,785 (GRCm39) V147A probably damaging Het
Rps6ka2 T A 17: 7,495,340 (GRCm39) I9N probably damaging Het
Samd9l A T 6: 3,375,387 (GRCm39) F625I probably damaging Het
Sh3bp1 A G 15: 78,789,230 (GRCm39) D196G probably benign Het
Slc66a1 A G 4: 139,033,752 (GRCm39) probably null Het
Smg7 A T 1: 152,725,757 (GRCm39) probably null Het
Stap1 G A 5: 86,238,781 (GRCm39) E150K possibly damaging Het
Ticrr T C 7: 79,315,598 (GRCm39) I284T probably benign Het
Tm4sf1 T C 3: 57,202,330 (GRCm39) probably benign Het
Traf4 C T 11: 78,051,268 (GRCm39) R296Q probably benign Het
Trav7d-4 G T 14: 53,007,770 (GRCm39) A88S possibly damaging Het
Vwde T C 6: 13,205,926 (GRCm39) E207G 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
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
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'- TGTGCTATACAGAGTGATAGACAG -3'
(R):5'- TTGGGGAGCCATTTGTATTATCTAACC -3'

Sequencing Primer
(F):5'- GCTATACAGAGTGATAGACAGGAATC -3'
(R):5'- ACCACTTACAGAGAGGTTTCTC -3'
Posted On 2018-11-06