Incidental Mutation 'R5113:Anks6'
ID 394008
Institutional Source Beutler Lab
Gene Symbol Anks6
Ensembl Gene ENSMUSG00000066191
Gene Name ankyrin repeat and sterile alpha motif domain containing 6
Synonyms SamCystin, 2210417J20Rik, Samd6, b2b1801.1Clo, LOC269533
MMRRC Submission 042701-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5113 (G1)
Quality Score 185
Status Not validated
Chromosome 4
Chromosomal Location 47015669-47057427 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 47030795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 601 (G601S)
Ref Sequence ENSEMBL: ENSMUSP00000081665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084616] [ENSMUST00000107747] [ENSMUST00000229609]
AlphaFold Q6GQX6
Predicted Effect probably damaging
Transcript: ENSMUST00000084616
AA Change: G601S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081665
Gene: ENSMUSG00000066191
AA Change: G601S

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 damaging
Transcript: ENSMUST00000107747
AA Change: G669S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103376
Gene: ENSMUSG00000066191
AA Change: G669S

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 probably damaging
Transcript: ENSMUST00000229609
AA Change: G669S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.6%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12e A G 11: 70,206,821 (GRCm39) V622A possibly damaging Het
Ankef1 A G 2: 136,394,361 (GRCm39) N590S probably benign Het
Ano3 A T 2: 110,491,825 (GRCm39) N867K possibly damaging Het
Ash1l T C 3: 88,973,582 (GRCm39) V2547A probably damaging Het
Chil5 A T 3: 105,925,294 (GRCm39) V209E possibly damaging Het
Cltc A T 11: 86,613,147 (GRCm39) C459S probably damaging Het
Col6a4 T A 9: 105,944,159 (GRCm39) D1105V possibly damaging Het
Cyp2c66 A G 19: 39,151,882 (GRCm39) D199G probably benign Het
Cyp4f18 A G 8: 72,742,902 (GRCm39) probably null Het
Cysrt1 A T 2: 25,129,363 (GRCm39) C50S possibly damaging Het
Dapk1 A G 13: 60,869,592 (GRCm39) K278R probably benign Het
Eefsec C A 6: 88,258,557 (GRCm39) S512I probably damaging Het
Emilin1 T C 5: 31,077,964 (GRCm39) F908L possibly damaging Het
Eml1 T C 12: 108,503,596 (GRCm39) V731A possibly damaging Het
Erc2 T C 14: 27,374,829 (GRCm39) S16P probably benign Het
Gfpt2 A G 11: 49,714,626 (GRCm39) R342G probably damaging Het
Gpr142 A T 11: 114,695,143 (GRCm39) Q36L probably benign Het
Grik5 A G 7: 24,714,952 (GRCm39) S681P probably damaging Het
Hecw1 A T 13: 14,520,614 (GRCm39) S208T possibly damaging Het
Hmgcr G A 13: 96,793,240 (GRCm39) A464V probably benign Het
Igkv2-109 A G 6: 68,280,069 (GRCm39) T97A possibly damaging Het
Ino80 G T 2: 119,262,426 (GRCm39) Q687K probably damaging Het
Kdm4d T C 9: 14,375,409 (GRCm39) N150D probably damaging Het
Klf4 A G 4: 55,530,481 (GRCm39) I210T possibly damaging Het
Klkb1 C A 8: 45,723,734 (GRCm39) Q560H probably benign Het
Lce1a2 A T 3: 92,576,442 (GRCm39) V40E unknown Het
Maob T C X: 16,582,662 (GRCm39) T400A probably benign Het
Mipol1 C T 12: 57,543,285 (GRCm39) T393I probably benign Het
Mst1 A G 9: 107,959,446 (GRCm39) D244G probably damaging Het
Nexn G A 3: 151,949,525 (GRCm39) R258C probably damaging Het
Optc T C 1: 133,828,715 (GRCm39) probably benign Het
Or10d5 T C 9: 39,861,221 (GRCm39) N282S probably damaging Het
Or11h23 A C 14: 50,948,371 (GRCm39) I195L probably benign Het
Or6c207 A G 10: 129,104,535 (GRCm39) I219T probably damaging Het
Or7a37 A G 10: 78,806,037 (GRCm39) I185V probably benign Het
Pabpc2 C A 18: 39,908,436 (GRCm39) P567Q probably benign Het
Pierce2 T A 9: 72,887,175 (GRCm39) R111* probably null Het
Ppm1j A G 3: 104,691,990 (GRCm39) H324R possibly damaging Het
Reg3g A T 6: 78,443,544 (GRCm39) probably null Het
Sipa1l1 C T 12: 82,487,682 (GRCm39) A1652V probably benign Het
Ski T C 4: 155,243,849 (GRCm39) T554A probably benign Het
Slfn5 G A 11: 82,852,522 (GRCm39) V883M probably benign Het
Stradb T C 1: 59,030,333 (GRCm39) probably benign Het
Tex19.1 A G 11: 121,038,625 (GRCm39) T328A probably benign Het
Tpsab1 T C 17: 25,564,373 (GRCm39) N27S possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ttn A T 2: 76,643,244 (GRCm39) L13225Q probably damaging Het
Vmn1r28 A G 6: 58,242,843 (GRCm39) T229A probably benign Het
Wapl A G 14: 34,446,711 (GRCm39) K600E probably damaging Het
Zfp217 T C 2: 169,955,978 (GRCm39) probably null Het
Other mutations in Anks6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Anks6 APN 4 47,046,054 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- AAAGCACTGTACAGGTGTCAC -3'
(R):5'- GAGTGAAGACAAGCCAGCTC -3'

Sequencing Primer
(F):5'- ACTGTACAGGTGTCACAGGCATC -3'
(R):5'- AGACAAGCCAGCTCTTGCCTG -3'
Posted On 2016-06-15