Incidental Mutation 'R5016:Ankzf1'
ID 385552
Institutional Source Beutler Lab
Gene Symbol Ankzf1
Ensembl Gene ENSMUSG00000026199
Gene Name ankyrin repeat and zinc finger domain containing 1
Synonyms D1Ertd161e, 2810025E10Rik, 1300008P06Rik
MMRRC Submission 042607-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R5016 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 75168795-75176031 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 75172622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040689] [ENSMUST00000113623] [ENSMUST00000127625] [ENSMUST00000186744] [ENSMUST00000155716] [ENSMUST00000152233] [ENSMUST00000145459] [ENSMUST00000189665] [ENSMUST00000189702] [ENSMUST00000188347]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000040689
SMART Domains Protein: ENSMUSP00000047449
Gene: ENSMUSG00000033124

DomainStartEndE-ValueType
transmembrane domain 70 92 N/A INTRINSIC
transmembrane domain 126 148 N/A INTRINSIC
Pfam:APG9 173 530 3.4e-134 PFAM
low complexity region 588 599 N/A INTRINSIC
low complexity region 607 621 N/A INTRINSIC
Blast:HELICc 692 733 1e-13 BLAST
low complexity region 734 755 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113623
SMART Domains Protein: ENSMUSP00000109253
Gene: ENSMUSG00000026200

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
Pfam:Glyco_hydro_35 34 351 4.1e-123 PFAM
Pfam:Glyco_hydro_42 48 209 6.6e-12 PFAM
low complexity region 355 371 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127625
SMART Domains Protein: ENSMUSP00000137179
Gene: ENSMUSG00000026199

DomainStartEndE-ValueType
low complexity region 19 45 N/A INTRINSIC
Blast:ZnF_C2H2 96 120 1e-10 BLAST
low complexity region 143 171 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127860
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186148
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134233
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134378
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151887
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143193
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146713
Predicted Effect probably benign
Transcript: ENSMUST00000186744
Predicted Effect probably benign
Transcript: ENSMUST00000186173
Predicted Effect probably benign
Transcript: ENSMUST00000155716
SMART Domains Protein: ENSMUSP00000136285
Gene: ENSMUSG00000026200

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
Pfam:Glyco_hydro_35 34 351 4.2e-125 PFAM
Pfam:Glyco_hydro_42 48 209 6.6e-12 PFAM
low complexity region 355 371 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152233
SMART Domains Protein: ENSMUSP00000136163
Gene: ENSMUSG00000026199

DomainStartEndE-ValueType
low complexity region 19 45 N/A INTRINSIC
Blast:ZnF_C2H2 96 120 6e-11 BLAST
low complexity region 143 171 N/A INTRINSIC
low complexity region 394 407 N/A INTRINSIC
low complexity region 425 451 N/A INTRINSIC
low complexity region 459 469 N/A INTRINSIC
Blast:ANK 515 545 2e-9 BLAST
ANK 556 585 6.81e-3 SMART
coiled coil region 628 681 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145459
SMART Domains Protein: ENSMUSP00000135971
Gene: ENSMUSG00000026199

DomainStartEndE-ValueType
low complexity region 19 45 N/A INTRINSIC
Blast:ZnF_C2H2 96 120 1e-9 BLAST
low complexity region 143 171 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188430
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187601
Predicted Effect probably benign
Transcript: ENSMUST00000189663
Predicted Effect probably benign
Transcript: ENSMUST00000189665
SMART Domains Protein: ENSMUSP00000140012
Gene: ENSMUSG00000033124

DomainStartEndE-ValueType
transmembrane domain 70 92 N/A INTRINSIC
transmembrane domain 126 148 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189702
SMART Domains Protein: ENSMUSP00000139641
Gene: ENSMUSG00000033124

DomainStartEndE-ValueType
transmembrane domain 70 92 N/A INTRINSIC
transmembrane domain 126 148 N/A INTRINSIC
Pfam:APG9 172 533 2.4e-140 PFAM
low complexity region 588 599 N/A INTRINSIC
low complexity region 607 621 N/A INTRINSIC
Blast:HELICc 692 733 1e-13 BLAST
low complexity region 734 755 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000188347
SMART Domains Protein: ENSMUSP00000139731
Gene: ENSMUSG00000033124

DomainStartEndE-ValueType
transmembrane domain 70 92 N/A INTRINSIC
transmembrane domain 126 148 N/A INTRINSIC
Pfam:APG9 172 533 2.4e-140 PFAM
low complexity region 588 599 N/A INTRINSIC
low complexity region 607 621 N/A INTRINSIC
Blast:HELICc 692 733 1e-13 BLAST
low complexity region 734 755 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.2%
  • 10x: 95.1%
  • 20x: 91.0%
Validation Efficiency 97% (56/58)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,491,631 (GRCm39) P768S probably damaging Het
Adprhl1 A G 8: 13,274,889 (GRCm39) L623P possibly damaging Het
Anapc1 A T 2: 128,449,095 (GRCm39) probably benign Het
Ash1l A G 3: 88,889,630 (GRCm39) D503G probably damaging Het
Atp7b T C 8: 22,505,885 (GRCm39) probably null Het
Bach1 T A 16: 87,516,206 (GRCm39) V249D possibly damaging Het
Ccdc158 A G 5: 92,805,751 (GRCm39) S335P probably benign Het
Chd9 T A 8: 91,733,254 (GRCm39) C1374* probably null Het
Col16a1 C T 4: 129,972,988 (GRCm39) T643M probably benign Het
Cygb A G 11: 116,540,840 (GRCm39) F49L probably benign Het
Dnah17 G C 11: 117,971,592 (GRCm39) T2147S probably damaging Het
Drd3 C A 16: 43,582,609 (GRCm39) A34E possibly damaging Het
Ephb6 G A 6: 41,595,041 (GRCm39) R685Q probably benign Het
Ezh1 G A 11: 101,090,063 (GRCm39) probably benign Het
Gpr19 T A 6: 134,846,880 (GRCm39) K231* probably null Het
Gpr61 A G 3: 108,057,983 (GRCm39) V226A possibly damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hnrnpul2 A G 19: 8,800,189 (GRCm39) K185R possibly damaging Het
Igsf9 A C 1: 172,318,279 (GRCm39) T140P probably damaging Het
Ksr2 A G 5: 117,638,857 (GRCm39) D87G probably benign Het
Llgl2 A G 11: 115,744,250 (GRCm39) E843G probably damaging Het
Ltbp4 GT G 7: 27,027,110 (GRCm39) probably null Het
Luc7l2 A G 6: 38,562,036 (GRCm39) I20V possibly damaging Het
Mcm6 G A 1: 128,271,164 (GRCm39) T485M probably damaging Het
Miox A G 15: 89,219,767 (GRCm39) D85G probably null Het
Nudt18 T C 14: 70,816,903 (GRCm39) F169S probably benign Het
Nxpe4 A G 9: 48,304,185 (GRCm39) N91D probably benign Het
Or13c7 T C 4: 43,854,596 (GRCm39) S96P probably benign Het
Or6c215 A G 10: 129,637,662 (GRCm39) V244A probably benign Het
Or8k39 T G 2: 86,563,090 (GRCm39) I289L probably benign Het
Pdss2 G T 10: 43,098,001 (GRCm39) A82S probably damaging Het
Ptprs T C 17: 56,726,070 (GRCm39) D998G probably damaging Het
Rasd2 C A 8: 75,948,603 (GRCm39) N176K probably damaging Het
Serpinb3a A G 1: 106,974,060 (GRCm39) F284L probably damaging Het
Skint6 T A 4: 113,028,730 (GRCm39) probably null Het
Slc12a6 C T 2: 112,186,972 (GRCm39) probably benign Het
Slc22a19 G A 19: 7,651,737 (GRCm39) T490M probably benign Het
Sp2 A T 11: 96,846,658 (GRCm39) C562S probably damaging Het
Specc1 A G 11: 62,009,783 (GRCm39) E433G possibly damaging Het
Sspo C T 6: 48,429,214 (GRCm39) Q451* probably null Het
St6galnac1 A T 11: 116,656,706 (GRCm39) S478T probably damaging Het
Steap4 C T 5: 8,026,699 (GRCm39) R221* probably null Het
Ugt1a5 C G 1: 88,093,963 (GRCm39) R64G probably benign Het
Vmn1r202 A T 13: 22,686,375 (GRCm39) F14Y probably damaging Het
Vmn2r79 T C 7: 86,686,548 (GRCm39) V643A probably benign Het
Vmn2r91 C A 17: 18,330,322 (GRCm39) Y535* probably null Het
Wdr3 A T 3: 100,048,936 (GRCm39) probably benign Het
Wdr95 T C 5: 149,468,266 (GRCm39) M41T probably benign Het
Other mutations in Ankzf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01115:Ankzf1 APN 1 75,169,259 (GRCm39) missense probably damaging 1.00
IGL02512:Ankzf1 APN 1 75,169,222 (GRCm39) missense probably damaging 0.99
IGL02880:Ankzf1 APN 1 75,169,312 (GRCm39) missense probably benign 0.18
R0207:Ankzf1 UTSW 1 75,174,948 (GRCm39) missense possibly damaging 0.89
R1543:Ankzf1 UTSW 1 75,169,160 (GRCm39) missense possibly damaging 0.59
R1663:Ankzf1 UTSW 1 75,172,914 (GRCm39) missense probably damaging 1.00
R1853:Ankzf1 UTSW 1 75,174,772 (GRCm39) splice site probably null
R2074:Ankzf1 UTSW 1 75,172,887 (GRCm39) missense probably damaging 1.00
R2358:Ankzf1 UTSW 1 75,171,895 (GRCm39) missense probably damaging 1.00
R4729:Ankzf1 UTSW 1 75,170,908 (GRCm39) missense probably damaging 0.99
R6159:Ankzf1 UTSW 1 75,170,888 (GRCm39) missense probably damaging 1.00
R6226:Ankzf1 UTSW 1 75,173,238 (GRCm39) missense probably benign 0.00
R6578:Ankzf1 UTSW 1 75,174,401 (GRCm39) missense possibly damaging 0.68
R7500:Ankzf1 UTSW 1 75,174,623 (GRCm39) missense probably benign
R9158:Ankzf1 UTSW 1 75,173,020 (GRCm39) missense probably damaging 1.00
R9487:Ankzf1 UTSW 1 75,174,596 (GRCm39) missense probably benign 0.00
R9691:Ankzf1 UTSW 1 75,175,196 (GRCm39) missense probably benign 0.01
RF016:Ankzf1 UTSW 1 75,172,477 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGCCAGGTCTACAGTACTGAG -3'
(R):5'- AGGTTGCGAACATCCTAAAGAG -3'

Sequencing Primer
(F):5'- CCAGGTCTACAGTACTGAGTCTGTG -3'
(R):5'- TCCTAAAGAGAGTAACTCCACTTAG -3'
Posted On 2016-05-10