Incidental Mutation 'R0554:Ankrd44'
ID 45312
Institutional Source Beutler Lab
Gene Symbol Ankrd44
Ensembl Gene ENSMUSG00000052331
Gene Name ankyrin repeat domain 44
Synonyms E130014H08Rik
MMRRC Submission 038746-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R0554 (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 54802917 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 194 (N194D)
Ref Sequence ENSEMBL: ENSMUSP00000137616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044359] [ENSMUST00000177679] [ENSMUST00000178226] [ENSMUST00000179030]
AlphaFold B2RXR6
Predicted Effect probably benign
Transcript: ENSMUST00000044359
AA Change: N194D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040327
Gene: ENSMUSG00000052331
AA Change: N194D

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: ENSMUST00000177679
SMART Domains Protein: ENSMUSP00000137216
Gene: ENSMUSG00000052331

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 noncoding transcript
Transcript: ENSMUST00000177919
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 noncoding transcript
Transcript: ENSMUST00000178905
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178935
Predicted Effect probably benign
Transcript: ENSMUST00000179030
AA Change: N194D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000137616
Gene: ENSMUSG00000052331
AA Change: N194D

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: ENSMUST00000180327
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188243
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180189
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik T A 5: 144,982,181 (GRCm39) Y255* probably null Het
1810024B03Rik A G 2: 127,029,196 (GRCm39) M1T probably null Het
4930503L19Rik T C 18: 70,600,451 (GRCm39) D386G probably damaging Het
Ace2 T A X: 162,958,947 (GRCm39) N601K probably benign Het
Adam4 A C 12: 81,468,198 (GRCm39) I141R probably damaging Het
Adcy10 G A 1: 165,340,699 (GRCm39) G235S probably benign Het
Adcy5 G A 16: 35,114,387 (GRCm39) V997I probably benign Het
Aff2 T G X: 68,907,680 (GRCm39) W1221G possibly damaging Het
Apba2 T G 7: 64,395,528 (GRCm39) L668R probably damaging Het
Asph T C 4: 9,604,581 (GRCm39) D152G probably damaging Het
Bcl3 C G 7: 19,553,991 (GRCm39) V126L probably benign Het
Cd163 A G 6: 124,289,619 (GRCm39) T446A probably benign Het
Cd209g C T 8: 4,184,995 (GRCm39) probably benign Het
Cdadc1 A T 14: 59,823,901 (GRCm39) V197E probably damaging Het
CN725425 T C 15: 91,144,966 (GRCm39) C610R possibly damaging Het
Col6a2 A G 10: 76,446,995 (GRCm39) probably null Het
Coro7 A G 16: 4,450,121 (GRCm39) L576P possibly damaging Het
Dgkb T A 12: 38,266,030 (GRCm39) V503E probably benign Het
Dhx57 A T 17: 80,567,665 (GRCm39) L806* probably null Het
Dlec1 T C 9: 118,944,070 (GRCm39) V373A probably benign Het
Dnah11 G T 12: 117,894,913 (GRCm39) R3645S probably benign Het
Dnhd1 T C 7: 105,343,602 (GRCm39) S1649P probably benign Het
Draxin T G 4: 148,192,420 (GRCm39) K297N probably damaging Het
Epha7 T C 4: 28,951,401 (GRCm39) S841P probably damaging Het
Esp8 T G 17: 40,841,166 (GRCm39) D142E unknown Het
F5 T G 1: 164,007,018 (GRCm39) V274G probably damaging Het
Fancc T C 13: 63,465,283 (GRCm39) S475G probably benign Het
Fmo3 T C 1: 162,781,901 (GRCm39) N484S probably benign Het
Focad T C 4: 88,267,126 (GRCm39) Y1046H unknown Het
Furin C T 7: 80,041,032 (GRCm39) G602D probably damaging Het
Fut8 A T 12: 77,411,744 (GRCm39) I69L probably benign Het
Gnai3 A G 3: 108,030,928 (GRCm39) I78T probably benign Het
Gpr182 T C 10: 127,586,940 (GRCm39) I4V probably benign Het
Gpr63 T C 4: 25,007,447 (GRCm39) M57T probably benign Het
Grm1 T A 10: 10,595,667 (GRCm39) T654S probably benign Het
Gtf2h4 T C 17: 35,979,531 (GRCm39) T371A probably benign Het
Helq T C 5: 100,938,066 (GRCm39) N460S probably benign Het
Hmcn1 T C 1: 150,594,868 (GRCm39) N1867S probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Iigp1c G A 18: 60,378,489 (GRCm39) R8H probably benign Het
Inpp5j A G 11: 3,449,644 (GRCm39) Y713H probably damaging Het
Ints6 A T 14: 62,942,200 (GRCm39) V511D possibly damaging Het
Irag2 G A 6: 145,111,013 (GRCm39) A237T probably benign Het
Itga4 A G 2: 79,109,461 (GRCm39) Y220C probably damaging Het
Itgav T G 2: 83,624,614 (GRCm39) S735A possibly damaging Het
Kctd16 A G 18: 40,391,492 (GRCm39) I27V probably benign Het
Klhl6 T C 16: 19,772,343 (GRCm39) E334G probably damaging Het
Ltbp1 T A 17: 75,532,274 (GRCm39) L116H probably damaging Het
Magohb T A 6: 131,262,660 (GRCm39) H98L probably benign Het
Mgat2 A G 12: 69,232,166 (GRCm39) T247A probably benign Het
Mtif2 G A 11: 29,483,398 (GRCm39) probably null Het
Myrfl T C 10: 116,664,878 (GRCm39) E384G probably damaging Het
Nfam1 G T 15: 82,917,410 (GRCm39) R8S probably benign Het
Numa1 T C 7: 101,644,731 (GRCm39) S236P possibly damaging Het
Or14c46 A T 7: 85,918,865 (GRCm39) I44N probably damaging Het
Or2w3b T C 11: 58,623,865 (GRCm39) N42S probably damaging Het
Or5m10b T C 2: 85,699,863 (GRCm39) F309S probably benign Het
Or6c207 T C 10: 129,104,368 (GRCm39) T275A probably benign Het
Orc4 C T 2: 48,795,433 (GRCm39) S431N probably benign Het
Pax2 T C 19: 44,750,300 (GRCm39) V129A probably damaging Het
Pcdhb15 A G 18: 37,607,572 (GRCm39) D268G probably damaging Het
Pdcd1 G A 1: 93,967,107 (GRCm39) R264C probably damaging Het
Pi15 T A 1: 17,691,872 (GRCm39) M187K probably benign Het
Plag1 C T 4: 3,904,546 (GRCm39) C215Y probably damaging Het
Plagl1 A G 10: 13,002,926 (GRCm39) T65A probably benign Het
Pramel51 T C 12: 88,144,328 (GRCm39) T162A probably benign Het
Prss48 T A 3: 85,908,228 (GRCm39) Q18L probably benign Het
Prune2 T A 19: 17,102,582 (GRCm39) C2580* probably null Het
Rab40b T A 11: 121,250,432 (GRCm39) Q74L probably damaging Het
Raf1 A G 6: 115,600,491 (GRCm39) I376T probably benign Het
Rbm46 A T 3: 82,772,575 (GRCm39) F186I probably damaging Het
Reps1 C T 10: 17,998,867 (GRCm39) T720M possibly damaging Het
Rgs22 A G 15: 36,054,855 (GRCm39) M649T probably benign Het
Rhot1 C T 11: 80,134,264 (GRCm39) R47* probably null Het
Rhox2f A G X: 36,753,124 (GRCm39) Y8C possibly damaging Het
Rnf17 A G 14: 56,760,007 (GRCm39) Y1604C probably damaging Het
Rnf40 T C 7: 127,201,756 (GRCm39) C943R probably damaging Het
Ropn1l A T 15: 31,451,295 (GRCm39) M63K probably benign Het
Sbf2 C A 7: 110,027,494 (GRCm39) V501F probably damaging Het
Sh3bp1 T A 15: 78,791,467 (GRCm39) M354K probably damaging Het
Sipa1l3 T C 7: 29,087,455 (GRCm39) H590R possibly damaging Het
Slco6d1 T A 1: 98,394,422 (GRCm39) C369S probably benign Het
Sulf1 T C 1: 12,875,418 (GRCm39) Y143H probably damaging Het
Tiam2 A T 17: 3,488,956 (GRCm39) R755* probably null Het
Trim12c C A 7: 103,994,169 (GRCm39) L228F probably damaging Het
Ttc23l G T 15: 10,530,743 (GRCm39) Q290K probably benign Het
Uba3 T C 6: 97,168,221 (GRCm39) probably null Het
Ugt1a10 A G 1: 87,983,817 (GRCm39) E205G probably damaging Het
Ugt3a1 T A 15: 9,351,206 (GRCm39) S72T probably benign Het
Upk3bl C T 5: 136,088,648 (GRCm39) T113I probably damaging Het
Uspl1 T A 5: 149,124,644 (GRCm39) D20E probably damaging Het
Vmn2r19 G A 6: 123,313,102 (GRCm39) G724E probably damaging Het
Vmn2r63 T A 7: 42,583,129 (GRCm39) K29* probably null Het
Vwf C T 6: 125,619,744 (GRCm39) A1474V probably benign Het
Xpc C T 6: 91,468,208 (GRCm39) A860T probably benign Het
Zfp462 A G 4: 55,013,689 (GRCm39) H737R probably damaging Het
Zfp536 T C 7: 37,180,244 (GRCm39) D787G probably damaging Het
Zfp692 A G 11: 58,205,053 (GRCm39) H434R probably damaging Het
Zp1 C A 19: 10,897,926 (GRCm39) C5F 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
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'- GGGACTGGCTAATGGTTCAAGCTC -3'
(R):5'- GACTCCCAGATCAGGAAATACTGGTGG -3'

Sequencing Primer
(F):5'- gcctggtctacagagcaag -3'
(R):5'- TACTGGTGGTAAAACCAGCTAAG -3'
Posted On 2013-06-11