Incidental Mutation 'R7515:Ankrd44'
ID 582368
Institutional Source Beutler Lab
Gene Symbol Ankrd44
Ensembl Gene ENSMUSG00000052331
Gene Name ankyrin repeat domain 44
Synonyms E130014H08Rik
MMRRC Submission 045588-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R7515 (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 54805514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 182 (Y182C)
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: Y182C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040327
Gene: ENSMUSG00000052331
AA Change: Y182C

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: Y182C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137616
Gene: ENSMUSG00000052331
AA Change: Y182C

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: 99.8%
  • 20x: 99.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 A T 11: 5,578,905 (GRCm39) E56D possibly damaging Het
Anxa3 A T 5: 96,986,179 (GRCm39) N273Y probably damaging Het
Apobec2 T C 17: 48,730,015 (GRCm39) E217G probably damaging Het
Arhgap24 A G 5: 102,993,882 (GRCm39) probably benign Het
Asap2 A G 12: 21,279,240 (GRCm39) H374R possibly damaging Het
Camsap2 T C 1: 136,273,108 (GRCm39) D23G probably damaging Het
Ccr2 T C 9: 123,906,197 (GRCm39) V159A probably damaging Het
Cfap61 T A 2: 145,884,645 (GRCm39) D614E unknown Het
Crb2 G A 2: 37,673,412 (GRCm39) G103R probably damaging Het
Cyp2b9 A G 7: 25,898,596 (GRCm39) Y317C probably damaging Het
Dhx36 A G 3: 62,379,508 (GRCm39) V860A probably benign Het
Dnah3 T C 7: 119,672,815 (GRCm39) D553G probably benign Het
Dnah7c T C 1: 46,496,450 (GRCm39) S112P probably benign Het
Dnah9 A G 11: 65,732,240 (GRCm39) F4222S probably benign Het
Ei24 T C 9: 36,701,211 (GRCm39) D36G probably damaging Het
Etv3 G T 3: 87,435,363 (GRCm39) R78L possibly damaging Het
Fbxo34 T C 14: 47,767,798 (GRCm39) L437P possibly damaging Het
Foxn1 T C 11: 78,261,970 (GRCm39) D133G possibly damaging Het
Gabra1 T A 11: 42,045,660 (GRCm39) D150V possibly damaging Het
Gpr158 T C 2: 21,373,092 (GRCm39) L9P probably damaging Het
H2-M10.3 G A 17: 36,677,435 (GRCm39) T281I probably damaging Het
Il18r1 T C 1: 40,537,830 (GRCm39) S532P not run Het
Itpr2 T C 6: 146,228,608 (GRCm39) D1329G probably damaging Het
Jakmip2 A T 18: 43,704,191 (GRCm39) N384K probably benign Het
Kdsr A G 1: 106,662,290 (GRCm39) V255A possibly damaging Het
Kifc1 A G 17: 34,103,777 (GRCm39) L182P probably damaging Het
Lgals8 G A 13: 12,463,343 (GRCm39) R198* probably null Het
Lrrk1 A T 7: 65,912,310 (GRCm39) M1750K probably benign Het
Lrsam1 A G 2: 32,830,251 (GRCm39) probably null Het
Lztr1 C T 16: 17,327,525 (GRCm39) A76V possibly damaging Het
Mcc G T 18: 44,626,499 (GRCm39) H366N probably benign Het
Mif4gd A G 11: 115,499,222 (GRCm39) V220A possibly damaging Het
Mtmr12 T A 15: 12,270,037 (GRCm39) F708L probably damaging Het
Muc16 A T 9: 18,550,958 (GRCm39) W5112R probably benign Het
Ndrg2 A G 14: 52,146,380 (GRCm39) I140T probably benign Het
Nid2 C A 14: 19,841,635 (GRCm39) Q887K probably benign Het
Nop16 A T 13: 54,737,550 (GRCm39) S48T possibly damaging Het
Nrap G A 19: 56,354,859 (GRCm39) T489I possibly damaging Het
Oas1e C T 5: 120,929,951 (GRCm39) G189D probably damaging Het
Or4a39 A G 2: 89,237,250 (GRCm39) Y58H possibly damaging Het
Or7g34 A T 9: 19,477,949 (GRCm39) C244S probably damaging Het
Pcdha5 A T 18: 37,095,171 (GRCm39) D560V probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Phldb2 C T 16: 45,594,603 (GRCm39) D901N possibly damaging Het
Piezo1 T C 8: 123,212,035 (GRCm39) H2058R Het
Ptgis T A 2: 167,048,758 (GRCm39) K419N possibly damaging Het
Ptprz1 T C 6: 23,022,266 (GRCm39) F1714L probably damaging Het
Rasa2 T C 9: 96,434,353 (GRCm39) probably null Het
Recql C T 6: 142,320,611 (GRCm39) D146N probably damaging Het
Rnf6 T G 5: 146,148,602 (GRCm39) S139R probably damaging Het
Rock1 A G 18: 10,067,631 (GRCm39) S1301P probably damaging Het
Safb2 A G 17: 56,889,982 (GRCm39) probably null Het
Setd5 T A 6: 113,087,850 (GRCm39) I137N probably damaging Het
Sf3b6 G A 12: 4,870,619 (GRCm39) R19Q probably damaging Het
Slc15a5 T A 6: 138,020,496 (GRCm39) H279L possibly damaging Het
Slc26a9 A G 1: 131,681,711 (GRCm39) T175A probably damaging Het
Sspo A T 6: 48,470,820 (GRCm39) N36I probably damaging Het
Supv3l1 A C 10: 62,268,090 (GRCm39) F585C probably damaging Het
Tnrc6c G T 11: 117,632,507 (GRCm39) V1070L probably benign Het
Vmn2r53 T A 7: 12,315,846 (GRCm39) M658L probably benign Het
Zc3h13 A G 14: 75,546,349 (GRCm39) D150G unknown Het
Zfp607b T C 7: 27,402,921 (GRCm39) V459A probably benign Het
Zfp653 T C 9: 21,982,427 (GRCm39) R71G 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
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
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'- TCCTACATGGTCAACAAGAGGC -3'
(R):5'- GCTAGCCTGTCTACCTGGTATG -3'

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