Incidental Mutation 'IGL02519:Ankfn1'
ID296879
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankfn1
Ensembl Gene ENSMUSG00000047773
Gene Nameankyrin-repeat and fibronectin type III domain containing 1
SynonymsLOC382543
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.190) question?
Stock #IGL02519
Quality Score
Status
Chromosome11
Chromosomal Location89390223-89777653 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89405678 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 75 (E75G)
Ref Sequence ENSEMBL: ENSMUSP00000049776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050983]
Predicted Effect probably benign
Transcript: ENSMUST00000050983
AA Change: E75G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049776
Gene: ENSMUSG00000047773
AA Change: E75G

DomainStartEndE-ValueType
low complexity region 207 220 N/A INTRINSIC
low complexity region 377 394 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000207815
AA Change: E754G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208932
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mutant mice exhibit a variable and subtle head nodding phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,895,315 E370G probably damaging Het
Adamts13 A T 2: 26,978,675 I224F probably damaging Het
Adamts17 A G 7: 67,124,973 T947A possibly damaging Het
Arfgef1 G T 1: 10,209,668 H225N probably benign Het
Arsi A G 18: 60,917,067 S341G probably damaging Het
Aspm T A 1: 139,461,927 probably benign Het
Cacna1i C T 15: 80,361,874 R490* probably null Het
Cd33 C T 7: 43,528,729 probably benign Het
Clmn T C 12: 104,791,853 I135V probably damaging Het
Crebbp A T 16: 4,101,593 N795K possibly damaging Het
Dhps A G 8: 85,073,299 D126G probably damaging Het
Dlg2 G T 7: 91,940,115 V196L possibly damaging Het
Dsg1c T A 18: 20,283,733 I897N probably damaging Het
Dzip3 A G 16: 48,928,396 L1059S probably damaging Het
Epha7 A T 4: 28,821,494 T220S possibly damaging Het
Fgf17 A G 14: 70,638,528 I88T probably damaging Het
G3bp2 A G 5: 92,066,524 V137A possibly damaging Het
Gnal G A 18: 67,088,765 E80K unknown Het
Hectd1 T G 12: 51,769,111 S1393R probably damaging Het
Igsf6 T C 7: 121,068,273 I173M possibly damaging Het
Il2ra A C 2: 11,683,090 E227A possibly damaging Het
Iqcf6 C T 9: 106,627,280 R48C probably damaging Het
Kdm3a G T 6: 71,611,586 Q480K probably benign Het
Larp4b C A 13: 9,158,580 A423E probably benign Het
Magea6 T C X: 154,924,745 D105G probably benign Het
Nop53 C A 7: 15,939,272 probably benign Het
Olfr307 A T 7: 86,335,581 F272I probably benign Het
Olfr338 T C 2: 36,377,313 L179P possibly damaging Het
Pgghg A G 7: 140,944,981 T352A possibly damaging Het
Setd2 T C 9: 110,553,116 S1464P probably damaging Het
Sspo C A 6: 48,484,828 T3609N probably damaging Het
Sulf1 T A 1: 12,838,363 Y533* probably null Het
Thsd7b A G 1: 129,613,195 S346G probably benign Het
Tmem161b T A 13: 84,294,744 L261Q probably damaging Het
Tmem63b T A 17: 45,665,208 T493S possibly damaging Het
Tmprss11d A T 5: 86,306,305 C214S probably damaging Het
Trim16 A T 11: 62,834,079 E144V possibly damaging Het
Unc13d T C 11: 116,070,533 Y356C probably damaging Het
Urgcp A T 11: 5,717,745 F198I probably benign Het
Vmn2r111 T C 17: 22,548,339 I726V possibly damaging Het
Zzz3 A T 3: 152,427,390 E28D probably damaging Het
Other mutations in Ankfn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01527:Ankfn1 APN 11 89391639 missense probably benign 0.01
IGL02695:Ankfn1 APN 11 89391819 missense probably damaging 0.99
IGL02818:Ankfn1 APN 11 89538466 missense probably benign
IGL02821:Ankfn1 APN 11 89391616 missense probably benign 0.00
IGL03166:Ankfn1 APN 11 89538438 missense probably benign 0.19
R0056:Ankfn1 UTSW 11 89391676 missense possibly damaging 0.71
R0070:Ankfn1 UTSW 11 89392302 missense probably damaging 0.99
R0070:Ankfn1 UTSW 11 89392302 missense probably damaging 0.99
R0200:Ankfn1 UTSW 11 89441966 missense possibly damaging 0.67
R0427:Ankfn1 UTSW 11 89405597 missense probably damaging 0.99
R0755:Ankfn1 UTSW 11 89392087 missense probably benign
R1240:Ankfn1 UTSW 11 89392134 missense probably damaging 0.99
R1534:Ankfn1 UTSW 11 89523151 missense probably damaging 1.00
R1539:Ankfn1 UTSW 11 89441391 missense probably damaging 1.00
R1548:Ankfn1 UTSW 11 89526541 missense probably damaging 0.98
R1595:Ankfn1 UTSW 11 89422767 critical splice donor site probably null
R1776:Ankfn1 UTSW 11 89526474 missense possibly damaging 0.74
R1835:Ankfn1 UTSW 11 89447618 missense probably benign 0.25
R2012:Ankfn1 UTSW 11 89405597 missense probably damaging 0.99
R2037:Ankfn1 UTSW 11 89456120 missense probably benign 0.13
R2175:Ankfn1 UTSW 11 89526537 missense probably damaging 1.00
R2876:Ankfn1 UTSW 11 89391636 missense possibly damaging 0.90
R3778:Ankfn1 UTSW 11 89441394 missense probably damaging 1.00
R4720:Ankfn1 UTSW 11 89441426 missense possibly damaging 0.50
R5001:Ankfn1 UTSW 11 89441442 missense possibly damaging 0.85
R5318:Ankfn1 UTSW 11 89391928 missense probably damaging 0.96
R5412:Ankfn1 UTSW 11 89505181 missense probably benign 0.17
R5434:Ankfn1 UTSW 11 89453187 missense probably damaging 1.00
R5458:Ankfn1 UTSW 11 89434810 missense probably benign 0.00
R5710:Ankfn1 UTSW 11 89503925 missense probably benign 0.02
R6457:Ankfn1 UTSW 11 89391844 missense probably benign 0.00
R7026:Ankfn1 UTSW 11 89639577 makesense probably null
R7356:Ankfn1 UTSW 11 89434773 missense probably damaging 0.97
R7499:Ankfn1 UTSW 11 89391750 missense probably benign 0.12
R7572:Ankfn1 UTSW 11 89421271 missense probably benign
R7577:Ankfn1 UTSW 11 89503971 missense probably benign 0.04
R7582:Ankfn1 UTSW 11 89526619 missense probably benign 0.04
R7820:Ankfn1 UTSW 11 89421130 missense probably damaging 0.99
R7908:Ankfn1 UTSW 11 89405534 missense probably damaging 1.00
R7992:Ankfn1 UTSW 11 89523033 missense probably benign 0.02
R8137:Ankfn1 UTSW 11 89453177 missense probably benign 0.00
X0012:Ankfn1 UTSW 11 89425544 missense probably damaging 1.00
Posted On2015-04-16