Incidental Mutation 'R5248:Ankrd44'
ID 398605
Institutional Source Beutler Lab
Gene Symbol Ankrd44
Ensembl Gene ENSMUSG00000052331
Gene Name ankyrin repeat domain 44
Synonyms E130014H08Rik
MMRRC Submission 042819-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R5248 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 54684499-54965546 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54706539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 454 (H454R)
Ref Sequence ENSEMBL: ENSMUSP00000136802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044359] [ENSMUST00000178226] [ENSMUST00000179030]
AlphaFold B2RXR6
Predicted Effect probably damaging
Transcript: ENSMUST00000044359
AA Change: H657R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040327
Gene: ENSMUSG00000052331
AA Change: H657R

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: ENSMUST00000177704
Predicted Effect probably damaging
Transcript: ENSMUST00000178226
AA Change: H454R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136802
Gene: ENSMUSG00000052331
AA Change: H454R

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 probably damaging
Transcript: ENSMUST00000179030
AA Change: H639R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137616
Gene: ENSMUSG00000052331
AA Change: H639R

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: ENSMUST00000179242
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,109,437 (GRCm39) E344D probably benign Het
Acoxl G A 2: 127,917,855 (GRCm39) probably null Het
Adora1 A T 1: 134,131,224 (GRCm39) L149Q possibly damaging Het
Aebp1 C A 11: 5,818,501 (GRCm39) D115E possibly damaging Het
Ank3 A G 10: 69,822,938 (GRCm39) I1819V probably benign Het
Ap4e1 C T 2: 126,906,842 (GRCm39) A1034V possibly damaging Het
B3galt2 T A 1: 143,522,849 (GRCm39) F328L probably benign Het
Bbip1 G A 19: 53,919,786 (GRCm39) probably benign Het
Brsk1 G A 7: 4,711,865 (GRCm39) E572K possibly damaging Het
Clca3a1 G T 3: 144,442,897 (GRCm39) P716T possibly damaging Het
Clpx T C 9: 65,228,132 (GRCm39) V380A probably damaging Het
Epha3 T A 16: 63,418,620 (GRCm39) Q608H probably damaging Het
Gprc6a G T 10: 51,491,089 (GRCm39) P712T probably damaging Het
Itpr1 C A 6: 108,519,023 (GRCm39) Q2720K probably damaging Het
Kdm5b A G 1: 134,548,735 (GRCm39) E1080G probably benign Het
Macf1 G A 4: 123,295,567 (GRCm39) R3163* probably null Het
Map4k5 T C 12: 69,888,755 (GRCm39) D292G probably benign Het
Mau2 A T 8: 70,481,373 (GRCm39) C217S probably benign Het
Mtf1 T C 4: 124,714,220 (GRCm39) F210L probably damaging Het
Mtif2 G A 11: 29,486,889 (GRCm39) V300M probably damaging Het
Mtmr2 T C 9: 13,694,905 (GRCm39) probably benign Het
Mybpc3 C A 2: 90,955,573 (GRCm39) probably null Het
Ncmap T C 4: 135,107,430 (GRCm39) probably null Het
Nek9 A G 12: 85,355,751 (GRCm39) F672S probably damaging Het
Nuak1 A T 10: 84,245,542 (GRCm39) I101N probably damaging Het
Or8s16 T C 15: 98,211,311 (GRCm39) N40S probably damaging Het
Pcdh7 T A 5: 58,286,515 (GRCm39) M1197K probably damaging Het
Pcdhb17 A C 18: 37,618,939 (GRCm39) Q243P probably benign Het
Pcf11 T G 7: 92,310,699 (GRCm39) K221Q probably damaging Het
Pkhd1 C T 1: 20,604,769 (GRCm39) R1182H probably benign Het
Ptprz1 C A 6: 23,001,900 (GRCm39) P1330Q probably benign Het
Rbm33 T G 5: 28,542,050 (GRCm39) probably null Het
Rhobtb1 A G 10: 69,084,615 (GRCm39) D2G probably damaging Het
Rngtt T A 4: 33,325,110 (GRCm39) C110* probably null Het
Setx T A 2: 29,038,430 (GRCm39) N1638K probably benign Het
Slc24a3 A T 2: 145,446,437 (GRCm39) M282L probably benign Het
Slc7a1 A T 5: 148,270,798 (GRCm39) V556D possibly damaging Het
Sppl2c A T 11: 104,077,407 (GRCm39) D69V possibly damaging Het
Srpk3 C T X: 72,818,555 (GRCm39) R82* probably null Het
Tas2r120 A T 6: 132,634,110 (GRCm39) N64I probably damaging Het
Tcf25 G T 8: 124,100,678 (GRCm39) A23S probably damaging Het
Tigd2 A T 6: 59,188,138 (GRCm39) K335I probably damaging Het
Tlr6 A G 5: 65,112,647 (GRCm39) S87P probably benign Het
Tmem135 T A 7: 88,797,200 (GRCm39) Y352F probably damaging Het
Tob2 T C 15: 81,735,918 (GRCm39) Y17C probably damaging Het
Tymp GC GCC 15: 89,258,567 (GRCm39) probably null Het
Vmn1r179 T C 7: 23,628,478 (GRCm39) V223A probably damaging Het
Zfp946 T C 17: 22,673,447 (GRCm39) V67A probably benign Het
Zswim4 G T 8: 84,946,561 (GRCm39) N698K probably benign Het
Zzz3 A G 3: 152,133,182 (GRCm39) Q80R 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
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'- TCAGATGCGTCAAGGGTCAAAG -3'
(R):5'- ATGGGCATCACCAAGCCTTG -3'

Sequencing Primer
(F):5'- AACTGAATAAAGCAGTGTGCAGGTTG -3'
(R):5'- CAAGCCTTGGAGGTCCTTC -3'
Posted On 2016-07-06