Incidental Mutation 'IGL02512:Ankzf1'
ID296605
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankzf1
Ensembl Gene ENSMUSG00000026199
Gene Nameankyrin repeat and zinc finger domain containing 1
Synonyms2810025E10Rik, D1Ertd161e, 1300008P06Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.102) question?
Stock #IGL02512
Quality Score
Status
Chromosome1
Chromosomal Location75192151-75199387 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 75192578 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Methionine at position 43 (L43M)
Ref Sequence ENSEMBL: ENSMUSP00000135971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040689] [ENSMUST00000127625] [ENSMUST00000145459] [ENSMUST00000152233] [ENSMUST00000186744] [ENSMUST00000188347] [ENSMUST00000189665] [ENSMUST00000189702]
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 possibly damaging
Transcript: ENSMUST00000127625
AA Change: L43M

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000137179
Gene: ENSMUSG00000026199
AA Change: L43M

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: ENSMUST00000134233
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134378
Predicted Effect probably damaging
Transcript: ENSMUST00000145459
AA Change: L43M

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135971
Gene: ENSMUSG00000026199
AA Change: L43M

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: ENSMUST00000151887
Predicted Effect possibly damaging
Transcript: ENSMUST00000152233
AA Change: L43M

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000136163
Gene: ENSMUSG00000026199
AA Change: L43M

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: ENSMUST00000186744
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187601
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188430
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: ENSMUST00000189820
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg10b C A 15: 90,227,549 H199N probably benign Het
Ankrd13a T A 5: 114,786,766 M104K probably benign Het
Ankrd37 A G 8: 45,999,288 L48P probably damaging Het
Ano10 A C 9: 122,272,474 V77G possibly damaging Het
Arg2 G A 12: 79,147,743 V114I probably benign Het
Asah1 A C 8: 41,360,307 probably benign Het
Clpx A C 9: 65,310,251 I34L probably benign Het
Cnga2 G A X: 72,008,925 V469I probably damaging Het
D230025D16Rik G A 8: 105,234,478 probably benign Het
Dock9 A T 14: 121,619,538 probably benign Het
Eaf1 A G 14: 31,497,786 T61A possibly damaging Het
Exoc3l T A 8: 105,290,483 D624V probably damaging Het
Fancd2 A G 6: 113,570,943 D927G probably damaging Het
Fbn1 A T 2: 125,338,460 Y1801N probably damaging Het
Garnl3 A G 2: 33,031,138 Y292H probably damaging Het
Gpr174 A T X: 107,292,971 K130* probably null Het
Greb1 C T 12: 16,692,712 V1379I possibly damaging Het
Grik2 A T 10: 49,355,912 D507E probably benign Het
Gsn A T 2: 35,283,950 K24* probably null Het
Ift80 A G 3: 68,927,725 probably null Het
Inpp5j T A 11: 3,499,661 Y707F probably damaging Het
Ints13 A T 6: 146,576,357 D31E probably damaging Het
Kcnh1 T C 1: 192,505,381 F717L possibly damaging Het
Klhdc8a T C 1: 132,303,157 probably null Het
Klkb1 G A 8: 45,276,240 probably benign Het
Krt16 A T 11: 100,246,336 probably benign Het
Msh6 T C 17: 87,984,732 V305A probably benign Het
Myo6 T A 9: 80,292,519 probably null Het
Nampt T A 12: 32,830,269 Y54N possibly damaging Het
Neurog2 G T 3: 127,633,855 E43* probably null Het
Obscn C T 11: 59,028,517 R6887H probably damaging Het
Olfr1124 A G 2: 87,435,058 I190M possibly damaging Het
Olfr209 T C 16: 59,361,808 N137D possibly damaging Het
Olfr772 A G 10: 129,174,250 I257T possibly damaging Het
Pdss1 A G 2: 22,912,646 I166V probably damaging Het
Ptpn21 T C 12: 98,679,392 T1096A probably benign Het
Reln A G 5: 22,040,427 Y728H probably benign Het
Sec31a T C 5: 100,407,193 D56G probably damaging Het
Shroom1 T A 11: 53,466,559 V683E probably damaging Het
Slc5a11 A G 7: 123,265,255 D358G probably damaging Het
Slfn3 T A 11: 83,213,025 S241T possibly damaging Het
Slitrk3 G A 3: 73,050,402 P346S probably benign Het
Specc1 T A 11: 62,118,389 S324T probably damaging Het
Sptlc3 T C 2: 139,547,203 Y168H probably damaging Het
St3gal6 C T 16: 58,473,459 E236K probably benign Het
Tet2 A T 3: 133,469,308 M1426K probably benign Het
Tinag A T 9: 77,031,787 probably benign Het
Tjp1 A G 7: 65,343,667 S53P probably damaging Het
Uimc1 T C 13: 55,040,618 T543A possibly damaging Het
Wdfy4 A G 14: 33,042,491 W2147R probably benign Het
Zmym1 C T 4: 127,048,672 C641Y probably damaging Het
Other mutations in Ankzf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01115:Ankzf1 APN 1 75192615 missense probably damaging 1.00
IGL02880:Ankzf1 APN 1 75192668 missense probably benign 0.18
R0207:Ankzf1 UTSW 1 75198304 missense possibly damaging 0.89
R1543:Ankzf1 UTSW 1 75192516 missense possibly damaging 0.59
R1663:Ankzf1 UTSW 1 75196270 missense probably damaging 1.00
R1853:Ankzf1 UTSW 1 75198128 splice site probably null
R2074:Ankzf1 UTSW 1 75196243 missense probably damaging 1.00
R2358:Ankzf1 UTSW 1 75195251 missense probably damaging 1.00
R4729:Ankzf1 UTSW 1 75194264 missense probably damaging 0.99
R5016:Ankzf1 UTSW 1 75195978 unclassified probably benign
R6159:Ankzf1 UTSW 1 75194244 missense probably damaging 1.00
R6226:Ankzf1 UTSW 1 75196594 missense probably benign 0.00
R6578:Ankzf1 UTSW 1 75197757 missense possibly damaging 0.68
R7500:Ankzf1 UTSW 1 75197979 missense probably benign
RF016:Ankzf1 UTSW 1 75195833 missense probably damaging 1.00
Posted On2015-04-16