Incidental Mutation 'IGL03008:Ankrd44'
ID407636
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd44
Ensembl Gene ENSMUSG00000052331
Gene Nameankyrin repeat domain 44
SynonymsE130014H08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.222) question?
Stock #IGL03008
Quality Score
Status
Chromosome1
Chromosomal Location54645340-54926387 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 54766809 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 146 (H146R)
Ref Sequence ENSEMBL: ENSMUSP00000040327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044359] [ENSMUST00000177679] [ENSMUST00000178226] [ENSMUST00000179030]
Predicted Effect probably damaging
Transcript: ENSMUST00000044359
AA Change: H146R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040327
Gene: ENSMUSG00000052331
AA Change: H146R

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: ENSMUST00000158620
Predicted Effect possibly damaging
Transcript: ENSMUST00000177679
AA Change: H121R

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137216
Gene: ENSMUSG00000052331
AA Change: H121R

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 damaging
Transcript: ENSMUST00000179030
AA Change: H146R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137616
Gene: ENSMUSG00000052331
AA Change: H146R

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: ENSMUST00000180189
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180327
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188243
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830010M20Rik T G 5: 107,491,598 probably null Het
AF529169 A G 9: 89,596,678 Y772H probably damaging Het
Aga T C 8: 53,511,826 S8P probably benign Het
Ankrd34c C T 9: 89,730,284 M1I probably null Het
Bst1 A G 5: 43,826,262 probably null Het
Cdh12 A T 15: 21,480,330 I211F probably damaging Het
Cenpj G T 14: 56,526,949 D1335E probably benign Het
Clpx G A 9: 65,322,775 V502I possibly damaging Het
Cntnap4 T C 8: 112,773,590 S505P probably benign Het
Cog2 T C 8: 124,535,392 probably benign Het
Cped1 A G 6: 22,233,602 Q819R probably benign Het
Cspg4 A G 9: 56,898,475 E2190G possibly damaging Het
Ctsa G A 2: 164,837,448 R359Q probably damaging Het
Cul9 A G 17: 46,502,697 probably benign Het
Dab1 G T 4: 104,727,580 V306F probably damaging Het
Dysf A G 6: 84,073,894 I438V probably benign Het
Eif4g3 G T 4: 138,120,388 G380W probably damaging Het
Exd1 T A 2: 119,520,381 K466N probably benign Het
Eya3 A C 4: 132,706,983 D325A probably damaging Het
Fmn1 A G 2: 113,365,100 T382A unknown Het
Fry T A 5: 150,345,556 D106E possibly damaging Het
Gm21957 T A 7: 125,219,561 noncoding transcript Het
Gm44511 A G 6: 128,784,096 probably benign Het
Gm884 T C 11: 103,620,467 E225G unknown Het
Itga4 A G 2: 79,325,638 I983V probably benign Het
Lrpprc A T 17: 84,751,247 D5E probably benign Het
Ltbp4 G T 7: 27,324,364 N747K probably damaging Het
Mlh3 T C 12: 85,240,851 Q1308R probably benign Het
Mtfr2 T A 10: 20,353,439 C63S possibly damaging Het
Myh11 T A 16: 14,204,753 M1661L probably benign Het
Myo1c T C 11: 75,658,414 M137T probably benign Het
Myocd A C 11: 65,187,566 L340V probably damaging Het
Napsa A T 7: 44,585,796 Q335L possibly damaging Het
Nlrp4b C A 7: 10,714,589 Q240K probably benign Het
Npepps A C 11: 97,238,158 F400C probably damaging Het
Nxpe4 A T 9: 48,393,438 E275V probably benign Het
Ofd1 T C X: 166,409,534 D501G probably benign Het
Olfr1310 A G 2: 112,008,523 I221T possibly damaging Het
Olfr228 A T 2: 86,483,334 M136K probably damaging Het
Olfr507 T G 7: 108,622,283 L157R probably damaging Het
Olfr525 T C 7: 140,323,532 Y278H probably damaging Het
P2ry1 A T 3: 61,003,526 T29S probably benign Het
Papss1 T C 3: 131,585,099 V201A possibly damaging Het
Paxip1 A G 5: 27,752,766 V864A probably benign Het
Pcdhgc5 T A 18: 37,821,834 H720Q probably benign Het
Pdxdc1 T C 16: 13,876,159 N133S possibly damaging Het
Prkar1a T C 11: 109,653,864 I27T probably damaging Het
Rnf10 G T 5: 115,251,296 H271N possibly damaging Het
Scn9a A G 2: 66,562,511 S246P probably damaging Het
Sertad2 G T 11: 20,647,798 probably benign Het
Slc22a27 A G 19: 7,909,702 I274T possibly damaging Het
Slc22a5 A T 11: 53,891,232 V103E probably damaging Het
Slc5a9 A T 4: 111,890,941 F225I probably benign Het
Slc6a3 G A 13: 73,558,285 probably null Het
Smcr8 A G 11: 60,778,461 E145G probably damaging Het
Spen A T 4: 141,476,137 D1726E possibly damaging Het
Sphkap A T 1: 83,276,831 S779T probably damaging Het
Stag1 A T 9: 100,776,791 N144Y probably damaging Het
Strada T C 11: 106,170,957 H156R probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tas2r138 A C 6: 40,613,182 D43E probably damaging Het
Tdpoz3 A T 3: 93,826,335 K106* probably null Het
Trbv13-1 A G 6: 41,116,295 D54G probably damaging Het
Ttc39b A G 4: 83,247,695 V218A probably benign Het
Ttn G A 2: 76,780,859 T15697I probably damaging Het
Ugt2b38 G A 5: 87,412,423 T344I probably benign Het
Vmn2r94 T C 17: 18,257,646 M168V probably benign Het
Wdr11 T C 7: 129,606,991 probably benign Het
Wipf2 T C 11: 98,892,728 probably benign Het
Zranb2 T A 3: 157,546,665 probably null Het
Other mutations in Ankrd44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00578:Ankrd44 APN 1 54662647 splice site probably benign
IGL00839:Ankrd44 APN 1 54667435 missense probably benign 0.27
IGL01145:Ankrd44 APN 1 54762259 critical splice donor site probably null
IGL01380:Ankrd44 APN 1 54727565 missense probably benign 0.00
IGL01415:Ankrd44 APN 1 54752928 missense probably damaging 1.00
IGL01958:Ankrd44 APN 1 54766966 missense probably damaging 0.99
IGL02014:Ankrd44 APN 1 54657620 missense possibly damaging 0.95
IGL02745:Ankrd44 APN 1 54766791 missense probably damaging 1.00
wilderness UTSW 1 54735034 synonymous silent
PIT4812001:Ankrd44 UTSW 1 54723038 nonsense probably null
R0416:Ankrd44 UTSW 1 54743339 missense possibly damaging 0.63
R0554:Ankrd44 UTSW 1 54763758 missense probably benign 0.00
R0575:Ankrd44 UTSW 1 54762310 missense probably damaging 1.00
R1323:Ankrd44 UTSW 1 54766450 splice site probably benign
R1605:Ankrd44 UTSW 1 54828622 missense probably benign 0.36
R2032:Ankrd44 UTSW 1 54723009 splice site probably null
R4458:Ankrd44 UTSW 1 54762391 missense possibly damaging 0.92
R4610:Ankrd44 UTSW 1 54766748 intron probably benign
R4727:Ankrd44 UTSW 1 54667417 missense probably benign 0.05
R4780:Ankrd44 UTSW 1 54763757 missense probably benign 0.00
R4801:Ankrd44 UTSW 1 54762316 missense probably damaging 1.00
R4802:Ankrd44 UTSW 1 54762316 missense probably damaging 1.00
R4810:Ankrd44 UTSW 1 54735143 intron probably benign
R4961:Ankrd44 UTSW 1 54663912 missense probably damaging 1.00
R5053:Ankrd44 UTSW 1 54735089 nonsense probably null
R5093:Ankrd44 UTSW 1 54763718 missense probably damaging 1.00
R5155:Ankrd44 UTSW 1 54778330 missense probably benign 0.43
R5248:Ankrd44 UTSW 1 54667380 missense probably damaging 1.00
R5306:Ankrd44 UTSW 1 54926203 utr 5 prime probably benign
R5595:Ankrd44 UTSW 1 54735050 missense probably damaging 1.00
R5595:Ankrd44 UTSW 1 54762347 missense probably damaging 1.00
R6288:Ankrd44 UTSW 1 54763763 missense probably damaging 1.00
R6332:Ankrd44 UTSW 1 54762273 missense probably damaging 1.00
R6453:Ankrd44 UTSW 1 54657704 splice site probably null
R6610:Ankrd44 UTSW 1 54655087 missense probably benign 0.02
R6699:Ankrd44 UTSW 1 54762445 missense probably damaging 1.00
R6905:Ankrd44 UTSW 1 54792494 missense probably damaging 1.00
R7173:Ankrd44 UTSW 1 54766391 missense probably damaging 1.00
R7178:Ankrd44 UTSW 1 54649440 missense
R7219:Ankrd44 UTSW 1 54766910 missense probably damaging 1.00
R7276:Ankrd44 UTSW 1 54735080 missense probably benign 0.05
R7283:Ankrd44 UTSW 1 54729796 missense probably damaging 1.00
R7414:Ankrd44 UTSW 1 54667380 missense probably damaging 1.00
R7490:Ankrd44 UTSW 1 54648300 missense probably benign 0.03
R7501:Ankrd44 UTSW 1 54649363 missense
R7515:Ankrd44 UTSW 1 54766355 missense probably damaging 1.00
R7527:Ankrd44 UTSW 1 54648324 missense probably benign 0.08
Z1088:Ankrd44 UTSW 1 54658982 missense probably damaging 1.00
Posted On2016-08-02