Incidental Mutation 'R4961:Ankrd44'
ID 381736
Institutional Source Beutler Lab
Gene Symbol Ankrd44
Ensembl Gene ENSMUSG00000052331
Gene Name ankyrin repeat domain 44
Synonyms E130014H08Rik
MMRRC Submission 042558-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R4961 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 54684499-54965546 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 54703071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 482 (D482N)
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: D685N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040327
Gene: ENSMUSG00000052331
AA Change: D685N

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: D482N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136802
Gene: ENSMUSG00000052331
AA Change: D482N

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: D667N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137616
Gene: ENSMUSG00000052331
AA Change: D667N

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
Meta Mutation Damage Score 0.4671 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.1%
  • 10x: 95.3%
  • 20x: 88.3%
Validation Efficiency 95% (62/65)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082I17Rik T C 5: 139,349,855 (GRCm39) K65E probably damaging Het
Acp5 C A 9: 22,041,233 (GRCm39) A65S probably benign Het
Adad2 G A 8: 120,342,397 (GRCm39) R345H probably damaging Het
Adamts7 G T 9: 90,067,793 (GRCm39) G428W probably damaging Het
Amy1 A G 3: 113,355,498 (GRCm39) S326P probably damaging Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Ano8 G C 8: 71,935,640 (GRCm39) P326R probably damaging Het
Arhgef26 A G 3: 62,367,046 (GRCm39) E793G probably damaging Het
Cd9 A T 6: 125,440,703 (GRCm39) V96E probably damaging Het
Cdh9 A G 15: 16,850,914 (GRCm39) N561S probably benign Het
Col16a1 G A 4: 129,948,272 (GRCm39) probably null Het
Cpne7 G A 8: 123,860,498 (GRCm39) G484R probably damaging Het
Dcun1d4 A T 5: 73,701,463 (GRCm39) K194* probably null Het
Dock3 A G 9: 106,818,515 (GRCm39) V1193A probably damaging Het
Dst A G 1: 34,007,904 (GRCm39) R113G possibly damaging Het
Epha5 A T 5: 84,381,502 (GRCm39) S450T probably damaging Het
Gm5581 A T 6: 131,144,190 (GRCm39) noncoding transcript Het
Grhl3 A G 4: 135,279,918 (GRCm39) Y379H probably damaging Het
Herpud1 T C 8: 95,117,454 (GRCm39) S13P probably benign Het
Jam2 C T 16: 84,606,435 (GRCm39) Q150* probably null Het
Jph2 C G 2: 163,217,668 (GRCm39) R336P probably damaging Het
Kansl3 T A 1: 36,387,764 (GRCm39) probably null Het
Kctd1 G A 18: 15,195,580 (GRCm39) P348S probably damaging Het
Klhl30 T A 1: 91,285,106 (GRCm39) S321T possibly damaging Het
Klhl5 T C 5: 65,310,033 (GRCm39) probably benign Het
Letm2 T C 8: 26,084,108 (GRCm39) H41R possibly damaging Het
Ltn1 A T 16: 87,194,679 (GRCm39) C1407S probably benign Het
Map1b T C 13: 99,572,161 (GRCm39) T187A probably damaging Het
Marveld2 T C 13: 100,748,431 (GRCm39) N216S probably benign Het
Matn1 A G 4: 130,680,234 (GRCm39) Y437C probably damaging Het
Oas1h T C 5: 121,009,159 (GRCm39) Y290H probably damaging Het
Ofcc1 A G 13: 40,417,035 (GRCm39) probably null Het
Or2m12 C A 16: 19,104,726 (GRCm39) G256W probably damaging Het
Or4k51 A T 2: 111,584,750 (GRCm39) D52V probably damaging Het
Or8g34 A G 9: 39,373,183 (GRCm39) Y152C probably damaging Het
Otof C A 5: 30,540,837 (GRCm39) probably benign Het
Pcdh15 G T 10: 74,215,249 (GRCm39) probably null Het
Pgk2 G A 17: 40,518,412 (GRCm39) P339S probably damaging Het
Piezo2 T C 18: 63,186,032 (GRCm39) probably null Het
Prex2 A G 1: 11,168,705 (GRCm39) T234A possibly damaging Het
Rasgrf1 C T 9: 89,826,922 (GRCm39) T177M probably benign Het
Rgs1 A T 1: 144,124,309 (GRCm39) probably null Het
Snx25 T C 8: 46,521,229 (GRCm39) N239S probably damaging Het
Spata31d1a T A 13: 59,849,716 (GRCm39) H804L possibly damaging Het
Spon2 A T 5: 33,371,896 (GRCm39) Y303* probably null Het
Spopfm2 A T 3: 94,082,841 (GRCm39) C323* probably null Het
Thrb G A 14: 18,011,076 (GRCm38) D151N probably benign Het
Tns1 A G 1: 73,975,074 (GRCm39) V1170A probably benign Het
Trbv19 A T 6: 41,155,706 (GRCm39) I26F probably damaging Het
Tstd2 T C 4: 46,120,467 (GRCm39) N311S probably damaging Het
Ttn T A 2: 76,715,746 (GRCm39) probably benign Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Vmn1r185 G A 7: 26,310,716 (GRCm39) A263V probably benign Het
Zfp316 T C 5: 143,239,169 (GRCm39) H950R probably damaging Het
Zfp51 A G 17: 21,676,615 (GRCm39) K29E probably benign Het
Zfp644 T C 5: 106,766,081 (GRCm39) 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
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
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'- AATAAGACGCGCACACTGAG -3'
(R):5'- TAGCAGCCGTGAGAAATAACTG -3'

Sequencing Primer
(F):5'- CCCTTTAGTACAGGCTCTGGTG -3'
(R):5'- CACTGTGTTTGAGGCTAC -3'
Posted On 2016-04-27