Incidental Mutation 'R7527:Ankrd44'
ID 583028
Institutional Source Beutler Lab
Gene Symbol Ankrd44
Ensembl Gene ENSMUSG00000052331
Gene Name ankyrin repeat domain 44
Synonyms E130014H08Rik
MMRRC Submission 045599-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R7527 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 54684499-54965546 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54687483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 979 (N979D)
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: N997D

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000040327
Gene: ENSMUSG00000052331
AA Change: N997D

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 benign
Transcript: ENSMUST00000178156
Predicted Effect probably benign
Transcript: ENSMUST00000178226
SMART Domains Protein: ENSMUSP00000136802
Gene: ENSMUSG00000052331

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 benign
Transcript: ENSMUST00000179030
AA Change: N979D

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000137616
Gene: ENSMUSG00000052331
AA Change: N979D

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,218,556 (GRCm39) probably null Het
Abcc10 A G 17: 46,623,830 (GRCm39) S810P possibly damaging Het
Adam22 T C 5: 8,132,239 (GRCm39) H138R possibly damaging Het
Adcyap1 T A 17: 93,510,257 (GRCm39) L95* probably null Het
Adgrl4 C A 3: 151,144,887 (GRCm39) T12N probably benign Het
Alpi T C 1: 87,026,677 (GRCm39) N438S probably benign Het
Ankrd60 A C 2: 173,419,966 (GRCm39) S57A probably benign Het
Arfgef3 G A 10: 18,522,377 (GRCm39) P550S probably benign Het
Btbd16 A T 7: 130,422,202 (GRCm39) D390V probably damaging Het
Cacna2d4 T C 6: 119,248,208 (GRCm39) V374A probably benign Het
Cdcp1 A T 9: 123,014,172 (GRCm39) F201I probably benign Het
Cdh15 A T 8: 123,588,865 (GRCm39) D313V probably damaging Het
Cfap157 A G 2: 32,669,890 (GRCm39) L231P possibly damaging Het
Chl1 T G 6: 103,688,162 (GRCm39) C1001G probably damaging Het
Cmtr2 A G 8: 110,948,770 (GRCm39) H360R probably damaging Het
Csmd1 C T 8: 16,261,732 (GRCm39) A922T probably damaging Het
Fancg C T 4: 43,010,116 (GRCm39) probably benign Het
Glt8d2 A T 10: 82,488,403 (GRCm39) S356T unknown Het
Gm19410 T A 8: 36,269,386 (GRCm39) C1074S probably damaging Het
Gm9195 C T 14: 72,711,310 (GRCm39) C376Y possibly damaging Het
Gnai3 G A 3: 108,025,693 (GRCm39) R129C Het
Golph3 T G 15: 12,343,404 (GRCm39) probably null Het
H2bc18 T A 3: 96,177,186 (GRCm39) V40D possibly damaging Het
Hk1 C A 10: 62,140,561 (GRCm39) V105F probably damaging Het
Hoxd8 A G 2: 74,536,001 (GRCm39) Y37C probably damaging Het
Inava T A 1: 136,142,122 (GRCm39) D659V possibly damaging Het
Jun G T 4: 94,939,234 (GRCm39) P92Q probably damaging Het
Klhl14 C T 18: 21,784,597 (GRCm39) V277I probably damaging Het
Lrrc51 C T 7: 101,569,843 (GRCm39) probably null Het
Man2c1 T A 9: 57,045,100 (GRCm39) Y429* probably null Het
Myo18a T A 11: 77,734,406 (GRCm39) C1476S probably benign Het
Neb G C 2: 52,066,635 (GRCm39) T6155R probably damaging Het
Niban3 C G 8: 72,059,342 (GRCm39) C568W probably damaging Het
Nuf2 T C 1: 169,326,422 (GRCm39) E443G possibly damaging Het
Or10j5 C T 1: 172,784,511 (GRCm39) H50Y probably benign Het
Or4c15 A G 2: 88,760,434 (GRCm39) V75A probably benign Het
Or5d37 A T 2: 87,923,954 (GRCm39) C109S probably damaging Het
Or7g32 A G 9: 19,408,685 (GRCm39) I214V probably damaging Het
Osmr A G 15: 6,856,603 (GRCm39) S515P probably damaging Het
Pik3r5 T C 11: 68,367,177 (GRCm39) L84P probably damaging Het
Plcl1 T C 1: 55,736,273 (GRCm39) I538T probably damaging Het
Plxnb1 G T 9: 108,929,929 (GRCm39) V262L probably damaging Het
Pprc1 T C 19: 46,057,804 (GRCm39) S1320P unknown Het
Pramel47 A G 5: 95,490,409 (GRCm39) D347G probably benign Het
Prap1 G A 7: 139,676,120 (GRCm39) probably null Het
Psg23 A T 7: 18,348,699 (GRCm39) V36D probably damaging Het
Ptgr1 A G 4: 58,982,887 (GRCm39) Y49H probably damaging Het
Ptprr A G 10: 116,087,104 (GRCm39) T528A probably benign Het
Rapgef6 T C 11: 54,525,787 (GRCm39) S541P unknown Het
Rnf17 A T 14: 56,753,895 (GRCm39) D1534V probably damaging Het
Sdk1 T G 5: 141,778,731 (GRCm39) S236R possibly damaging Het
Sepsecs A G 5: 52,801,393 (GRCm39) M423T possibly damaging Het
Serpina1f T G 12: 103,658,167 (GRCm39) Y246S probably benign Het
Sftpb T A 6: 72,282,048 (GRCm39) V46E possibly damaging Het
Slc4a1ap G A 5: 31,691,475 (GRCm39) V424I probably benign Het
Slc5a4b G A 10: 75,946,742 (GRCm39) T10M probably benign Het
Slc6a16 T C 7: 44,922,063 (GRCm39) W664R probably damaging Het
Snx8 T C 5: 140,341,827 (GRCm39) E138G probably benign Het
Sox6 T C 7: 115,376,408 (GRCm39) E108G probably benign Het
Sptan1 A T 2: 29,870,209 (GRCm39) I120F probably damaging Het
Sptbn4 T C 7: 27,075,015 (GRCm39) E1452G possibly damaging Het
Stac2 T A 11: 97,930,452 (GRCm39) E372V probably damaging Het
Taco1 A T 11: 105,962,795 (GRCm39) I161F probably damaging Het
Taf1d C A 9: 15,220,133 (GRCm39) D127E possibly damaging Het
Tenm2 T A 11: 36,097,803 (GRCm39) N482Y probably damaging Het
Tenm3 A G 8: 48,729,635 (GRCm39) V1457A possibly damaging Het
Tmem200c A T 17: 69,148,671 (GRCm39) H418L probably benign Het
Tmem81 T C 1: 132,435,884 (GRCm39) V230A probably benign Het
Tnn C T 1: 159,946,074 (GRCm39) V915I possibly damaging Het
Trav8d-2 A T 14: 53,280,154 (GRCm39) Y48F possibly damaging Het
Trpm2 T C 10: 77,801,894 (GRCm39) N57S probably benign Het
Ttn G A 2: 76,598,383 (GRCm39) T19510M probably damaging Het
Ubl7 T C 9: 57,820,167 (GRCm39) L73P unknown Het
Uso1 A G 5: 92,347,734 (GRCm39) D845G possibly damaging Het
Utrn G T 10: 12,277,126 (GRCm39) P3397Q possibly damaging Het
Vmn2r60 AG A 7: 41,845,158 (GRCm39) probably null 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
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
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'- CAGTTCTCACTTGCATGTAGAAAG -3'
(R):5'- GGTACTGTCCTTCAATAGTAGGGTAG -3'

Sequencing Primer
(F):5'- CTCACTTGCATGTAGAAAGAAAAAC -3'
(R):5'- TAGTAGGGTAGCAAATTAGCTGC -3'
Posted On 2019-10-17