Incidental Mutation 'R7609:Ankrd39'
ID588458
Institutional Source Beutler Lab
Gene Symbol Ankrd39
Ensembl Gene ENSMUSG00000079610
Gene Nameankyrin repeat domain 39
SynonymsC030004B10Rik, 9130416N05Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.100) question?
Stock #R7609 (G1)
Quality Score225.009
Status Validated
Chromosome1
Chromosomal Location36537507-36547445 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 36539465 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 160 (R160W)
Ref Sequence ENSEMBL: ENSMUSP00000001172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001172] [ENSMUST00000054665] [ENSMUST00000191849] [ENSMUST00000193083] [ENSMUST00000194853] [ENSMUST00000194894] [ENSMUST00000207088] [ENSMUST00000207843]
Predicted Effect probably damaging
Transcript: ENSMUST00000001172
AA Change: R160W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001172
Gene: ENSMUSG00000079610
AA Change: R160W

DomainStartEndE-ValueType
ANK 30 59 8.77e2 SMART
ANK 63 92 1.08e-5 SMART
ANK 96 127 1.27e-2 SMART
ANK 129 158 5.62e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000054665
SMART Domains Protein: ENSMUSP00000061168
Gene: ENSMUSG00000067653

DomainStartEndE-ValueType
coiled coil region 45 74 N/A INTRINSIC
low complexity region 79 94 N/A INTRINSIC
Blast:ANK 111 140 1e-9 BLAST
ANK 144 173 1.12e-3 SMART
ANK 177 206 1.4e-4 SMART
ANK 210 239 9.27e-5 SMART
ANK 243 272 7.42e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191849
SMART Domains Protein: ENSMUSP00000142202
Gene: ENSMUSG00000109510

DomainStartEndE-ValueType
Blast:ANK 1 26 9e-9 BLAST
ANK 30 59 1.12e-3 SMART
ANK 63 92 1.4e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000193083
SMART Domains Protein: ENSMUSP00000141394
Gene: ENSMUSG00000067653

DomainStartEndE-ValueType
Blast:ANK 1 26 1e-8 BLAST
ANK 30 59 6.9e-6 SMART
ANK 63 92 8.9e-7 SMART
ANK 96 125 5.7e-7 SMART
ANK 129 158 4.6e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194853
SMART Domains Protein: ENSMUSP00000141541
Gene: ENSMUSG00000067653

DomainStartEndE-ValueType
coiled coil region 45 74 N/A INTRINSIC
low complexity region 79 94 N/A INTRINSIC
Blast:ANK 111 140 2e-9 BLAST
ANK 144 173 1.12e-3 SMART
ANK 177 206 1.4e-4 SMART
ANK 210 239 7.42e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194894
SMART Domains Protein: ENSMUSP00000141712
Gene: ENSMUSG00000079610

DomainStartEndE-ValueType
ANK 30 59 5.6e0 SMART
ANK 63 92 7.1e-8 SMART
ANK 96 127 8.2e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000207088
Predicted Effect probably benign
Transcript: ENSMUST00000207843
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 96% (69/72)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T C 9: 55,989,460 Y288C probably benign Het
Acta2 G A 19: 34,252,531 T8I probably benign Het
Agl C A 3: 116,807,279 R24I possibly damaging Het
Aldoart2 A G 12: 55,566,048 T253A probably benign Het
Aspscr1 C T 11: 120,677,522 T57M probably damaging Het
Baz2b A G 2: 59,962,473 L437S probably benign Het
Bcl9l T A 9: 44,505,747 L331Q probably damaging Het
Cdhr4 C A 9: 107,997,283 P546T probably damaging Het
Cfap61 T C 2: 146,112,533 C231R unknown Het
Cnih4 T C 1: 181,155,902 L61P probably damaging Het
Dtx4 A G 19: 12,492,281 Y161H probably damaging Het
Epha7 C T 4: 28,871,937 S422L probably benign Het
Ercc6 A G 14: 32,566,361 H830R probably benign Het
Exoc7 T C 11: 116,289,259 N673S possibly damaging Het
Gm12185 T C 11: 48,916,023 S114G possibly damaging Het
Hsfy2 A T 1: 56,637,151 F76I probably benign Het
Igsf9b A G 9: 27,345,890 D1413G probably benign Het
Klk8 G A 7: 43,802,179 C198Y probably damaging Het
Lama3 G T 18: 12,531,834 probably null Het
Lce3f A T 3: 92,993,096 S75C unknown Het
Ldhal6b T C 17: 5,417,991 M223V probably benign Het
Magoh T C 4: 107,887,212 V126A possibly damaging Het
Mc1r A T 8: 123,408,293 I262F probably damaging Het
Mecom A G 3: 29,956,442 I629T probably damaging Het
Mkrn2os A G 6: 115,586,726 V116A possibly damaging Het
Muc5b T A 7: 141,861,729 V2804D possibly damaging Het
Myo15 T C 11: 60,488,811 V279A Het
Nhlrc2 A G 19: 56,594,896 I600V probably benign Het
Nipbl T C 15: 8,305,872 Q2183R probably benign Het
Obscn C T 11: 59,000,299 E7136K unknown Het
Olfr1118 T C 2: 87,309,509 V260A probably benign Het
Olfr25 A C 9: 38,330,224 L209F possibly damaging Het
Olfr481 T A 7: 108,081,546 F251I probably damaging Het
Olfr970 C T 9: 39,820,287 T216I probably benign Het
Otop3 T C 11: 115,339,720 I141T possibly damaging Het
Pde4dip C A 3: 97,715,565 V1443F possibly damaging Het
Pdgfra T C 5: 75,166,721 V193A probably benign Het
Phf3 T C 1: 30,805,501 Y1459C probably benign Het
Pias4 A T 10: 81,158,026 probably null Het
Plcg2 A G 8: 117,558,113 N159S probably benign Het
Plekha7 T C 7: 116,164,446 D307G probably benign Het
Ptprd T C 4: 76,072,003 K491E probably benign Het
Rbpjl A T 2: 164,405,814 R62S probably benign Het
Rgs11 T C 17: 26,207,441 S245P probably damaging Het
Ripor3 G A 2: 167,984,570 A685V possibly damaging Het
Rnase9 G A 14: 51,039,483 P13S possibly damaging Het
Scin C T 12: 40,124,589 C165Y probably damaging Het
Senp7 T C 16: 56,111,637 W100R probably benign Het
Slc26a2 T C 18: 61,198,460 D633G probably benign Het
Slc4a4 C T 5: 89,135,686 P446S probably damaging Het
Soga3 A T 10: 29,148,228 D380V probably damaging Het
Spag17 T A 3: 100,095,595 C1878* probably null Het
Ssc5d A G 7: 4,927,576 E129G possibly damaging Het
Supt6 T C 11: 78,226,951 N480D probably benign Het
Tbk1 A G 10: 121,552,501 L590S probably damaging Het
Tex45 A T 8: 3,476,057 H70L probably benign Het
Tmem63a T A 1: 180,952,974 probably null Het
Tpsg1 G T 17: 25,373,210 G86V probably damaging Het
Trio A G 15: 27,912,642 S109P unknown Het
Tsga10 A T 1: 37,804,893 probably null Het
Ttn A T 2: 76,795,763 L14984* probably null Het
Tyr T C 7: 87,483,884 T325A probably benign Het
U2surp A T 9: 95,485,679 probably null Het
Uba6 C A 5: 86,147,075 K368N probably benign Het
Upb1 A G 10: 75,436,201 T283A probably benign Het
Urb1 CACTTAC CAC 16: 90,772,573 probably benign Het
Vmn1r31 A G 6: 58,472,470 Y137H probably damaging Het
Wdtc1 T C 4: 133,296,437 K541R probably damaging Het
Wrn A G 8: 33,310,713 I624T possibly damaging Het
Zfp804b T A 5: 6,770,066 D999V possibly damaging Het
Zmym4 T A 4: 126,925,795 H105L probably benign Het
Other mutations in Ankrd39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01522:Ankrd39 APN 1 36542061 missense probably damaging 0.98
R1637:Ankrd39 UTSW 1 36539492 nonsense probably null
R4249:Ankrd39 UTSW 1 36547155 missense probably benign 0.00
R5548:Ankrd39 UTSW 1 36541981 missense probably damaging 1.00
R5551:Ankrd39 UTSW 1 36541981 missense probably damaging 1.00
R5552:Ankrd39 UTSW 1 36541981 missense probably damaging 1.00
R5553:Ankrd39 UTSW 1 36541981 missense probably damaging 1.00
R5554:Ankrd39 UTSW 1 36541981 missense probably damaging 1.00
R5591:Ankrd39 UTSW 1 36541981 missense probably damaging 1.00
R5594:Ankrd39 UTSW 1 36541981 missense probably damaging 1.00
R7974:Ankrd39 UTSW 1 36546918 unclassified probably benign
Z1176:Ankrd39 UTSW 1 36542005 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCCAGACTCACAAGCCTTCAG -3'
(R):5'- AAAGTGCAGGTACCAGCTTGG -3'

Sequencing Primer
(F):5'- GCTCTTCTGGGCAATCTGGC -3'
(R):5'- AGGGTCACGAGGACATTT -3'
Posted On2019-10-24