Incidental Mutation 'R7173:Ankrd44'
ID 558389
Institutional Source Beutler Lab
Gene Symbol Ankrd44
Ensembl Gene ENSMUSG00000052331
Gene Name ankyrin repeat domain 44
Synonyms E130014H08Rik
MMRRC Submission 045265-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R7173 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 54684499-54965546 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54805550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 170 (D170G)
Ref Sequence ENSEMBL: ENSMUSP00000137616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044359] [ENSMUST00000177679] [ENSMUST00000178226] [ENSMUST00000179030]
AlphaFold B2RXR6
Predicted Effect probably damaging
Transcript: ENSMUST00000044359
AA Change: D170G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040327
Gene: ENSMUSG00000052331
AA Change: D170G

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 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 damaging
Transcript: ENSMUST00000179030
AA Change: D170G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137616
Gene: ENSMUSG00000052331
AA Change: D170G

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 100% (79/79)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik C T 15: 84,833,848 (GRCm39) V403I possibly damaging Het
Actn1 G A 12: 80,224,033 (GRCm39) R475C possibly damaging Het
Adam11 T C 11: 102,662,757 (GRCm39) L191P possibly damaging Het
Adam21 G T 12: 81,606,008 (GRCm39) Q585K probably benign Het
Akap3 T C 6: 126,841,729 (GRCm39) V116A probably benign Het
Alpk1 A T 3: 127,478,024 (GRCm39) Y74* probably null Het
Alx4 G T 2: 93,473,202 (GRCm39) G67C possibly damaging Het
Ankrd17 A T 5: 90,407,976 (GRCm39) C1414S possibly damaging Het
Arpc2 T A 1: 74,303,531 (GRCm39) M266K probably damaging Het
Atp12a A T 14: 56,621,837 (GRCm39) N794I probably damaging Het
Cabin1 A G 10: 75,582,396 (GRCm39) L340P probably benign Het
Ccer1 A T 10: 97,529,217 (GRCm39) probably benign Het
Cfap73 A T 5: 120,772,279 (GRCm39) Y8N probably damaging Het
Cfhr4 C A 1: 139,659,415 (GRCm39) E705* probably null Het
Cln3 T C 7: 126,178,589 (GRCm39) T173A probably damaging Het
Cxcl3 A T 5: 90,934,008 (GRCm39) probably benign Het
Cyp2c66 G C 19: 39,159,401 (GRCm39) C284S probably benign Het
Dnajc22 T C 15: 98,999,187 (GRCm39) V124A probably benign Het
Dync1h1 C G 12: 110,568,173 (GRCm39) D45E probably benign Het
Elmod3 A T 6: 72,554,235 (GRCm39) probably null Het
Enpp3 A C 10: 24,649,945 (GRCm39) V827G probably damaging Het
Esyt2 T C 12: 116,327,154 (GRCm39) I574T probably benign Het
Ext2 A T 2: 93,643,957 (GRCm39) I108N probably damaging Het
Fam186a T C 15: 99,843,531 (GRCm39) I904M unknown Het
Fmnl2 T C 2: 53,004,202 (GRCm39) I638T unknown Het
Fndc3c1 G C X: 105,478,679 (GRCm39) L724V possibly damaging Het
Fras1 G T 5: 96,925,937 (GRCm39) A3714S probably damaging Het
Fsd1 C A 17: 56,303,696 (GRCm39) R479S possibly damaging Het
Gaa C T 11: 119,169,817 (GRCm39) L624F probably damaging Het
Galnt2 G A 8: 125,032,292 (GRCm39) V86I probably benign Het
Gdap1l1 T G 2: 163,280,608 (GRCm39) V48G probably damaging Het
Gm10549 A G 18: 33,597,462 (GRCm39) T83A unknown Het
Gm11437 T G 11: 84,055,374 (GRCm39) T81P probably benign Het
Gm16253 T C 3: 96,487,979 (GRCm39) probably null Het
Gprc6a A T 10: 51,504,595 (GRCm39) M83K probably benign Het
Grik5 T C 7: 24,767,587 (GRCm39) D31G probably damaging Het
Hcrtr2 A G 9: 76,167,013 (GRCm39) L108P probably damaging Het
Herc2 T A 7: 55,853,575 (GRCm39) L3689Q probably damaging Het
Igf2bp1 T C 11: 95,859,290 (GRCm39) M407V probably benign Het
Irgq A T 7: 24,233,185 (GRCm39) E342V probably damaging Het
Itih2 A T 2: 10,109,974 (GRCm39) I593N probably damaging Het
Ivd G T 2: 118,701,870 (GRCm39) G101C probably damaging Het
Jakmip1 G A 5: 37,248,708 (GRCm39) G123S probably damaging Het
Kif14 T A 1: 136,406,908 (GRCm39) I580N probably damaging Het
Kmt2e A T 5: 23,669,855 (GRCm39) Y114F probably damaging Het
Ly6g5b C A 17: 35,333,680 (GRCm39) C99F probably damaging Het
Map3k20 C T 2: 72,271,758 (GRCm39) P629S probably benign Het
Mpl A G 4: 118,305,741 (GRCm39) probably null Het
Muc4 T C 16: 32,582,862 (GRCm39) F476L probably damaging Het
Mup18 T C 4: 61,590,199 (GRCm39) T110A probably benign Het
Nlrp9a A G 7: 26,257,603 (GRCm39) D407G probably benign Het
Nmur1 G A 1: 86,314,190 (GRCm39) R359C probably benign Het
Or5ac24 T C 16: 59,165,510 (GRCm39) T185A probably benign Het
Or5p64 C T 7: 107,854,955 (GRCm39) C130Y possibly damaging Het
Panx3 A T 9: 37,572,596 (GRCm39) M318K probably damaging Het
Pcnx1 T C 12: 81,999,777 (GRCm39) probably null Het
Pcsk5 T C 19: 17,455,241 (GRCm39) Y1063C possibly damaging Het
Psme3ip1 A T 8: 95,315,486 (GRCm39) F15L probably damaging Het
Rere G A 4: 150,553,195 (GRCm39) R129H probably damaging Het
Rpgrip1 A G 14: 52,349,633 (GRCm39) Y7C possibly damaging Het
Serpina6 T C 12: 103,613,253 (GRCm39) N349S possibly damaging Het
Slc10a1 T G 12: 81,002,750 (GRCm39) E296A probably damaging Het
Slc2a9 A T 5: 38,610,214 (GRCm39) probably null Het
Sptan1 T A 2: 29,873,221 (GRCm39) M138K probably benign Het
Tbl3 T C 17: 24,924,233 (GRCm39) T175A probably benign Het
Tbrg4 T C 11: 6,570,810 (GRCm39) T221A possibly damaging Het
Tenm2 T C 11: 35,932,378 (GRCm39) T1739A probably damaging Het
Tmed5 T C 5: 108,280,187 (GRCm39) D35G probably benign Het
Tnfsf15 A T 4: 63,647,889 (GRCm39) S250R probably damaging Het
Tnpo2 G T 8: 85,781,707 (GRCm39) V830F probably benign Het
Ttbk2 G T 2: 120,570,592 (GRCm39) S1187Y probably damaging Het
Ttn G A 2: 76,625,029 (GRCm39) T15183M possibly damaging Het
Tubgcp3 T C 8: 12,689,259 (GRCm39) probably null Het
Vmn1r38 T C 6: 66,753,278 (GRCm39) I279M possibly damaging Het
Vmn1r49 A T 6: 90,049,250 (GRCm39) Y251N possibly damaging Het
Vmn1r66 C T 7: 10,008,482 (GRCm39) V184I probably benign Het
Vmn2r26 T A 6: 124,038,255 (GRCm39) M610K probably benign Het
Xrn2 C T 2: 146,884,013 (GRCm39) P591S 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
R6905:Ankrd44 UTSW 1 54,831,653 (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'- ATGTAGCCAAGGTCATCTGC -3'
(R):5'- CCTTTGACATGAGCAGTGTAGC -3'

Sequencing Primer
(F):5'- AGCCAAGGTCATCTGCTTGTG -3'
(R):5'- ACATGAGCAGTGTAGCCTGTC -3'
Posted On 2019-06-26