Incidental Mutation 'IGL00465:Anks6'
ID 332119
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Anks6
Ensembl Gene ENSMUSG00000066191
Gene Name ankyrin repeat and sterile alpha motif domain containing 6
Synonyms SamCystin, 2210417J20Rik, Samd6, b2b1801.1Clo, LOC269533
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00465
Quality Score
Status
Chromosome 4
Chromosomal Location 47015669-47057427 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 47046054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 279 (D279V)
Ref Sequence ENSEMBL: ENSMUSP00000155271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084616] [ENSMUST00000107747] [ENSMUST00000229609]
AlphaFold Q6GQX6
Predicted Effect unknown
Transcript: ENSMUST00000084616
AA Change: D279V
SMART Domains Protein: ENSMUSP00000081665
Gene: ENSMUSG00000066191
AA Change: D279V

DomainStartEndE-ValueType
ANK 8 37 2.39e2 SMART
ANK 68 97 5.62e-4 SMART
ANK 101 130 2.05e-6 SMART
ANK 134 163 1.9e-1 SMART
ANK 181 210 8.99e-3 SMART
ANK 215 244 7.83e-3 SMART
ANK 282 312 5.87e2 SMART
ANK 316 345 1.22e-4 SMART
ANK 350 379 3.57e-6 SMART
ANK 383 414 1.23e3 SMART
low complexity region 539 575 N/A INTRINSIC
low complexity region 619 673 N/A INTRINSIC
SAM 700 766 2.73e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107747
AA Change: D279V

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103376
Gene: ENSMUSG00000066191
AA Change: D279V

DomainStartEndE-ValueType
ANK 8 37 2.39e2 SMART
ANK 68 97 5.62e-4 SMART
ANK 101 130 2.05e-6 SMART
ANK 134 163 1.9e-1 SMART
ANK 181 210 8.99e-3 SMART
ANK 215 244 7.83e-3 SMART
ANK 282 312 5.87e2 SMART
ANK 316 345 1.22e-4 SMART
ANK 350 379 3.57e-6 SMART
ANK 383 414 1.23e3 SMART
low complexity region 607 643 N/A INTRINSIC
low complexity region 687 741 N/A INTRINSIC
low complexity region 748 768 N/A INTRINSIC
Blast:SAM 769 796 1e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119580
Predicted Effect probably damaging
Transcript: ENSMUST00000229609
AA Change: D279V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in renal and cardiovascular development. Mutations in this gene have been shown to cause a form of nephronophthisis (NPHP16), a chronic tubulo-interstitial nephritis. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit complex congenital heart defects including TGA, DORV and septal defects associated with heterotaxy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg A T 15: 60,793,102 (GRCm39) S2T probably damaging Het
Adamts13 T A 2: 26,863,567 (GRCm39) W7R probably benign Het
C4bp A T 1: 130,566,871 (GRCm39) L335Q probably damaging Het
Cd109 A T 9: 78,568,216 (GRCm39) K299* probably null Het
Cd200r2 A T 16: 44,729,651 (GRCm39) H102L probably damaging Het
Col12a1 A G 9: 79,604,863 (GRCm39) Y662H probably damaging Het
Cyp2c37 T C 19: 39,990,441 (GRCm39) F380L probably benign Het
Deup1 A G 9: 15,472,666 (GRCm39) S549P probably damaging Het
Dysf G T 6: 84,176,830 (GRCm39) probably null Het
Etaa1 A T 11: 17,897,825 (GRCm39) C166* probably null Het
Fam227b T C 2: 125,986,245 (GRCm39) probably null Het
Gucy1b2 T G 14: 62,640,649 (GRCm39) Q752P probably benign Het
Hal T C 10: 93,325,931 (GRCm39) probably null Het
Hao1 C A 2: 134,396,190 (GRCm39) K21N probably damaging Het
Itga4 T C 2: 79,122,394 (GRCm39) F536L probably benign Het
Lmod3 A T 6: 97,224,822 (GRCm39) I333N probably damaging Het
Mgme1 T A 2: 144,121,436 (GRCm39) D297E probably damaging Het
Myh2 G T 11: 67,069,659 (GRCm39) probably benign Het
Myo7a A G 7: 97,751,833 (GRCm39) M70T probably damaging Het
Nav3 T C 10: 109,688,607 (GRCm39) T557A probably damaging Het
Nif3l1 C A 1: 58,494,845 (GRCm39) H271Q possibly damaging Het
Nostrin A G 2: 69,015,898 (GRCm39) probably benign Het
Nxn C A 11: 76,165,481 (GRCm39) probably benign Het
Pcdhb22 A T 18: 37,653,185 (GRCm39) D551V probably damaging Het
Pde4d A G 13: 110,073,221 (GRCm39) D339G possibly damaging Het
Pkp4 T A 2: 59,169,099 (GRCm39) S408T probably damaging Het
Pxmp2 T C 5: 110,431,582 (GRCm39) T54A probably benign Het
Rif1 T A 2: 52,011,019 (GRCm39) V2362E probably damaging Het
Rps6kl1 A G 12: 85,186,203 (GRCm39) S276P probably benign Het
Scaf4 C A 16: 90,044,169 (GRCm39) M601I unknown Het
Scart2 A G 7: 139,874,755 (GRCm39) Y411C probably damaging Het
Setd7 T A 3: 51,457,729 (GRCm39) T33S probably benign Het
Shroom1 T A 11: 53,354,921 (GRCm39) D280E probably benign Het
Slc35f2 G T 9: 53,705,298 (GRCm39) probably null Het
Slitrk3 T A 3: 72,958,436 (GRCm39) N112I probably damaging Het
Spag1 A G 15: 36,183,967 (GRCm39) probably benign Het
Stx6 C T 1: 155,077,679 (GRCm39) probably benign Het
Sun1 A T 5: 139,220,440 (GRCm39) probably null Het
Tbl1xr1 G A 3: 22,246,432 (GRCm39) probably null Het
Tmc2 T C 2: 130,103,224 (GRCm39) S787P possibly damaging Het
Traf3ip3 C T 1: 192,877,128 (GRCm39) probably benign Het
Trip12 T G 1: 84,741,582 (GRCm39) H559P probably damaging Het
Trpm1 G T 7: 63,897,215 (GRCm39) M272I possibly damaging Het
Ttc21b T C 2: 66,073,119 (GRCm39) E189G probably benign Het
Tubd1 T C 11: 86,445,894 (GRCm39) probably benign Het
Vps13a T A 19: 16,729,539 (GRCm39) T167S probably damaging Het
Zbtb3 A G 19: 8,781,029 (GRCm39) D214G possibly damaging Het
Zfp658 A G 7: 43,216,780 (GRCm39) D50G probably benign Het
Zfp976 T A 7: 42,263,109 (GRCm39) I243L unknown Het
Other mutations in Anks6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01886:Anks6 APN 4 47,044,850 (GRCm39) missense probably damaging 1.00
IGL02903:Anks6 APN 4 47,045,004 (GRCm39) missense probably damaging 1.00
PIT4131001:Anks6 UTSW 4 47,027,109 (GRCm39) missense probably damaging 1.00
R0632:Anks6 UTSW 4 47,033,167 (GRCm39) missense possibly damaging 0.95
R1220:Anks6 UTSW 4 47,025,767 (GRCm39) splice site probably benign
R1398:Anks6 UTSW 4 47,044,926 (GRCm39) missense possibly damaging 0.75
R1479:Anks6 UTSW 4 47,044,874 (GRCm39) missense probably damaging 1.00
R1519:Anks6 UTSW 4 47,027,152 (GRCm39) missense probably damaging 0.99
R1713:Anks6 UTSW 4 47,039,726 (GRCm39) missense probably benign 0.00
R1781:Anks6 UTSW 4 47,043,639 (GRCm39) missense possibly damaging 0.87
R1853:Anks6 UTSW 4 47,049,387 (GRCm39) missense probably benign 0.00
R2364:Anks6 UTSW 4 47,027,248 (GRCm39) missense possibly damaging 0.93
R3790:Anks6 UTSW 4 47,049,212 (GRCm39) missense probably damaging 0.97
R4432:Anks6 UTSW 4 47,044,905 (GRCm39) nonsense probably null
R4700:Anks6 UTSW 4 47,033,127 (GRCm39) missense possibly damaging 0.86
R4847:Anks6 UTSW 4 47,033,266 (GRCm39) missense probably benign
R4876:Anks6 UTSW 4 47,030,795 (GRCm39) missense probably damaging 1.00
R4877:Anks6 UTSW 4 47,030,795 (GRCm39) missense probably damaging 1.00
R4878:Anks6 UTSW 4 47,030,795 (GRCm39) missense probably damaging 1.00
R4879:Anks6 UTSW 4 47,030,795 (GRCm39) missense probably damaging 1.00
R4961:Anks6 UTSW 4 47,030,795 (GRCm39) missense probably damaging 1.00
R4962:Anks6 UTSW 4 47,030,795 (GRCm39) missense probably damaging 1.00
R4968:Anks6 UTSW 4 47,030,795 (GRCm39) missense probably damaging 1.00
R4970:Anks6 UTSW 4 47,030,795 (GRCm39) missense probably damaging 1.00
R4971:Anks6 UTSW 4 47,030,795 (GRCm39) missense probably damaging 1.00
R5092:Anks6 UTSW 4 47,030,795 (GRCm39) missense probably damaging 1.00
R5113:Anks6 UTSW 4 47,030,795 (GRCm39) missense probably damaging 1.00
R5389:Anks6 UTSW 4 47,038,900 (GRCm39) splice site probably benign
R5569:Anks6 UTSW 4 47,045,007 (GRCm39) missense probably damaging 1.00
R5857:Anks6 UTSW 4 47,039,736 (GRCm39) missense possibly damaging 0.92
R5977:Anks6 UTSW 4 47,035,748 (GRCm39) missense probably benign 0.11
R5978:Anks6 UTSW 4 47,049,252 (GRCm39) missense probably damaging 1.00
R6933:Anks6 UTSW 4 47,049,164 (GRCm39) missense probably benign 0.25
R7175:Anks6 UTSW 4 47,046,268 (GRCm39) splice site probably null
R7454:Anks6 UTSW 4 47,038,919 (GRCm39) missense unknown
R7874:Anks6 UTSW 4 47,049,275 (GRCm39) missense unknown
R8146:Anks6 UTSW 4 47,043,605 (GRCm39) missense unknown
R8437:Anks6 UTSW 4 47,030,705 (GRCm39) missense probably benign 0.00
R9454:Anks6 UTSW 4 47,016,789 (GRCm39) missense possibly damaging 0.86
R9462:Anks6 UTSW 4 47,033,142 (GRCm39) missense unknown
R9567:Anks6 UTSW 4 47,044,880 (GRCm39) missense unknown
Posted On 2015-08-05