Incidental Mutation 'R9462:Anks6'
ID 714911
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9462 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 47015669-47057427 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47033142 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 573 (L573P)
Ref Sequence ENSEMBL: ENSMUSP00000081665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084616] [ENSMUST00000107747] [ENSMUST00000229609]
AlphaFold Q6GQX6
Predicted Effect unknown
Transcript: ENSMUST00000084616
AA Change: L573P
SMART Domains Protein: ENSMUSP00000081665
Gene: ENSMUSG00000066191
AA Change: L573P

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: L641P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103376
Gene: ENSMUSG00000066191
AA Change: L641P

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 benign
Transcript: ENSMUST00000229609
AA Change: L641P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik G A 4: 103,092,964 (GRCm39) T220I probably benign Het
Abca8b T A 11: 109,844,433 (GRCm39) H928L Het
Ahnak A T 19: 8,981,299 (GRCm39) D861V probably damaging Het
Ahnak2 C A 12: 112,750,655 (GRCm39) R89L Het
Aipl1 C T 11: 71,928,253 (GRCm39) G11D probably damaging Het
Ano5 T C 7: 51,235,200 (GRCm39) V711A probably benign Het
Arl2bp C A 8: 95,398,755 (GRCm39) A120D probably damaging Het
Asap1 A G 15: 64,038,328 (GRCm39) Y223H probably damaging Het
Atp7b A T 8: 22,490,160 (GRCm39) M1151K probably damaging Het
B4galnt3 A T 6: 120,271,438 (GRCm39) L28Q probably null Het
Ccdc39 T C 3: 33,868,519 (GRCm39) K856E probably benign Het
Ccr9 A G 9: 123,608,600 (GRCm39) D94G probably damaging Het
Cdan1 A G 2: 120,560,060 (GRCm39) I368T possibly damaging Het
Cdhr17 G T 5: 17,027,213 (GRCm39) A379S Het
Cfap54 T C 10: 92,737,920 (GRCm39) Q2326R unknown Het
Chrm3 T C 13: 9,927,437 (GRCm39) Y533C Het
Ckap4 C T 10: 84,363,924 (GRCm39) E380K possibly damaging Het
Cntnap2 T C 6: 46,211,217 (GRCm39) F544L probably damaging Het
Cwh43 A G 5: 73,591,695 (GRCm39) K596R probably benign Het
Cyp26c1 A G 19: 37,681,634 (GRCm39) E479G probably damaging Het
Deup1 A G 9: 15,493,882 (GRCm39) V420A probably benign Het
Dnah3 A G 7: 119,551,523 (GRCm39) V2932A probably benign Het
Dthd1 G A 5: 63,039,626 (GRCm39) R676H probably benign Het
Eef1e1 A G 13: 38,838,997 (GRCm39) L120P probably damaging Het
Elane T C 10: 79,723,883 (GRCm39) S244P probably benign Het
Esp6 A G 17: 40,876,315 (GRCm39) E121G probably benign Het
Eya1 T C 1: 14,299,775 (GRCm39) E326G probably damaging Het
Fut2 G T 7: 45,300,492 (GRCm39) N93K probably damaging Het
Garin5b A G 7: 4,761,330 (GRCm39) S461P Het
Gm12695 A G 4: 96,651,075 (GRCm39) V126A probably benign Het
Gucy2g A G 19: 55,221,469 (GRCm39) probably null Het
Hbs1l T C 10: 21,218,304 (GRCm39) V267A probably damaging Het
Hsd17b1 A T 11: 100,969,806 (GRCm39) N106I possibly damaging Het
Ino80d G A 1: 63,097,393 (GRCm39) L939F probably damaging Het
Lilra6 A G 7: 3,914,994 (GRCm39) W505R probably damaging Het
Map3k14 T A 11: 103,118,360 (GRCm39) K609* probably null Het
Mark1 T A 1: 184,651,868 (GRCm39) K212N probably damaging Het
Muc5b T A 7: 141,415,216 (GRCm39) C2721S Het
Myh4 A G 11: 67,141,811 (GRCm39) D890G possibly damaging Het
Mylk2 T G 2: 152,761,373 (GRCm39) L492R probably damaging Het
Myt1 T A 2: 181,467,729 (GRCm39) Y1134* probably null Het
N4bp2 G A 5: 65,947,898 (GRCm39) G176D probably benign Het
Ncstn A C 1: 171,899,707 (GRCm39) M325R probably damaging Het
Ndor1 C T 2: 25,144,875 (GRCm39) probably null Het
Notch4 G A 17: 34,806,667 (GRCm39) R1868H probably benign Het
Ogfr AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG 2: 180,236,850 (GRCm39) probably benign Het
Or2b2b A T 13: 21,859,015 (GRCm39) V33E probably benign Het
Or8s16 T A 15: 98,211,186 (GRCm39) N82Y possibly damaging Het
Oxct2a G T 4: 123,216,441 (GRCm39) D313E probably damaging Het
Pcdha2 T A 18: 37,073,546 (GRCm39) H392Q probably benign Het
Pcdhb20 T G 18: 37,639,799 (GRCm39) L775R probably benign Het
Pclo A G 5: 14,840,408 (GRCm39) D1449G Het
Pcx A G 19: 4,651,970 (GRCm39) T73A probably benign Het
Pou6f2 A G 13: 18,314,189 (GRCm39) S395P probably benign Het
Prss35 C G 9: 86,638,392 (GRCm39) I387M Het
Radil C A 5: 142,471,220 (GRCm39) D1019Y probably damaging Het
Rnf40 G T 7: 127,191,010 (GRCm39) probably null Het
Scarb1 A T 5: 125,417,891 (GRCm39) L19Q probably damaging Het
Scn8a T A 15: 100,930,159 (GRCm39) F1457I Het
Sdk2 C T 11: 113,760,744 (GRCm39) V339I possibly damaging Het
Siglec1 A G 2: 130,916,404 (GRCm39) L1182P probably damaging Het
Slc4a4 G A 5: 89,194,131 (GRCm39) V204I probably damaging Het
Sp9 T C 2: 73,104,243 (GRCm39) S266P probably benign Het
Spata21 A G 4: 140,831,316 (GRCm39) E421G probably damaging Het
Sulf1 C T 1: 12,929,459 (GRCm39) P242L probably damaging Het
Sval3 G A 6: 41,945,105 (GRCm39) G11E possibly damaging Het
Tecta T A 9: 42,248,576 (GRCm39) Y1942F probably damaging Het
Thbs2 C T 17: 14,890,243 (GRCm39) G1121D probably damaging Het
Thrap3 G T 4: 126,070,048 (GRCm39) S613* probably null Het
Ttc34 A C 4: 154,942,539 (GRCm39) K59Q probably damaging Het
Tut7 A T 13: 59,929,957 (GRCm39) L1428H possibly damaging Het
Ube4b A T 4: 149,444,748 (GRCm39) L504Q probably damaging Het
Uncx A T 5: 139,529,771 (GRCm39) E8V probably damaging Het
Vmn1r79 A T 7: 11,910,261 (GRCm39) I48F probably damaging Het
Vmn2r99 C A 17: 19,598,388 (GRCm39) Y137* probably null Het
Zfp354b G A 11: 50,814,523 (GRCm39) T134I probably benign Het
Zfp618 G A 4: 63,051,510 (GRCm39) V764I possibly damaging Het
Zfp873 T G 10: 81,897,131 (GRCm39) C621G probably benign 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
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
R9567:Anks6 UTSW 4 47,044,880 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AGCACTATGGACCTGACCTC -3'
(R):5'- AAGGCCCTGTCCTAACTACC -3'

Sequencing Primer
(F):5'- AGCTTCACCTCGGGAAAATG -3'
(R):5'- CTGGTTCACCTTGTCCTTACAGG -3'
Posted On 2022-06-15