Incidental Mutation 'R5412:Ankfn1'
ID 427547
Institutional Source Beutler Lab
Gene Symbol Ankfn1
Ensembl Gene ENSMUSG00000047773
Gene Name ankyrin-repeat and fibronectin type III domain containing 1
Synonyms LOC382543, 4932411E22Rik, nmf9, mWAKE
MMRRC Submission 042981-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.390) question?
Stock # R5412 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 89280918-89668727 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89396007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 246 (E246D)
Ref Sequence ENSEMBL: ENSMUSP00000132133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000128717] [ENSMUST00000169201]
AlphaFold A0A571BF63
Predicted Effect unknown
Transcript: ENSMUST00000128717
AA Change: E266D
SMART Domains Protein: ENSMUSP00000121290
Gene: ENSMUSG00000047773
AA Change: E266D

DomainStartEndE-ValueType
ANK 136 167 2.47e2 SMART
ANK 173 204 1.46e-2 SMART
coiled coil region 205 236 N/A INTRINSIC
FN3 271 356 1.66e-7 SMART
low complexity region 586 597 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169201
AA Change: E246D

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000132133
Gene: ENSMUSG00000047773
AA Change: E246D

DomainStartEndE-ValueType
ANK 116 147 2.47e2 SMART
ANK 153 184 1.46e-2 SMART
coiled coil region 185 216 N/A INTRINSIC
FN3 251 336 1.66e-7 SMART
low complexity region 566 577 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000207815
AA Change: E200D
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T A 9: 55,886,036 (GRCm39) N36Y probably damaging Het
Arid1a T C 4: 133,446,913 (GRCm39) probably benign Het
Bbs7 A T 3: 36,653,522 (GRCm39) D300E probably benign Het
C3 T C 17: 57,527,187 (GRCm39) D754G probably benign Het
Ccpg1 A T 9: 72,917,588 (GRCm39) Q240L probably damaging Het
Cdk13 G A 13: 17,941,115 (GRCm39) P650S probably damaging Het
Celsr2 G T 3: 108,307,311 (GRCm39) S1933Y probably damaging Het
Cep135 T A 5: 76,764,709 (GRCm39) H562Q probably benign Het
Cyp26a1 G T 19: 37,689,630 (GRCm39) C442F probably damaging Het
Dnah7a T C 1: 53,674,503 (GRCm39) S425G probably benign Het
Espn C T 4: 152,212,582 (GRCm39) V752M probably damaging Het
Glyr1 A G 16: 4,854,297 (GRCm39) S113P possibly damaging Het
Grk4 A T 5: 34,902,612 (GRCm39) Y388F probably benign Het
H2-T15 C T 17: 36,366,936 (GRCm39) C369Y probably benign Het
Heca C A 10: 17,778,044 (GRCm39) V518F probably damaging Het
Hmcn2 C T 2: 31,236,629 (GRCm39) P391S possibly damaging Het
Hnrnpl A G 7: 28,510,529 (GRCm39) probably benign Het
Hsd3b2 A G 3: 98,619,208 (GRCm39) S246P possibly damaging Het
Ifna11 C T 4: 88,738,380 (GRCm39) P62L probably damaging Het
Katnal2 A T 18: 77,090,131 (GRCm39) V292D probably damaging Het
Krt16 T A 11: 100,137,593 (GRCm39) I371F probably damaging Het
Ly6g2 A T 15: 75,089,669 (GRCm39) E59V probably damaging Het
Map10 A T 8: 126,397,724 (GRCm39) L372F probably damaging Het
Megf10 A T 18: 57,324,219 (GRCm39) M87L probably damaging Het
Ncoa6 T C 2: 155,249,701 (GRCm39) H1201R possibly damaging Het
Ndc80 C A 17: 71,821,226 (GRCm39) D241Y probably damaging Het
Ndufs1 T C 1: 63,205,508 (GRCm39) M94V possibly damaging Het
Nkx2-6 G T 14: 69,412,195 (GRCm39) R121L probably damaging Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Or6a2 A G 7: 106,600,842 (GRCm39) V75A probably damaging Het
Otop1 A G 5: 38,455,328 (GRCm39) I241V probably benign Het
Panx2 C A 15: 88,953,135 (GRCm39) P542H possibly damaging Het
Pcdha5 C A 18: 37,095,510 (GRCm39) P673Q probably benign Het
Pon1 A G 6: 5,185,314 (GRCm39) L62P probably damaging Het
Prdx6 A T 1: 161,071,860 (GRCm39) I102N probably damaging Het
Prkd3 T A 17: 79,262,140 (GRCm39) I725F possibly damaging Het
Selenon T C 4: 134,269,749 (GRCm39) N395S probably benign Het
Serpinb8 G A 1: 107,533,616 (GRCm39) E224K probably benign Het
Serpinb9b A G 13: 33,213,496 (GRCm39) M18V probably benign Het
Smc6 A G 12: 11,335,400 (GRCm39) E318G possibly damaging Het
Srrt A T 5: 137,294,549 (GRCm39) Y786N probably damaging Het
Stk36 G T 1: 74,644,615 (GRCm39) probably null Het
Stpg1 T A 4: 135,252,786 (GRCm39) L179Q possibly damaging Het
Stra8 G A 6: 34,907,885 (GRCm39) M1I probably null Het
Tiam1 G T 16: 89,681,753 (GRCm39) H408Q possibly damaging Het
Tm2d1 G A 4: 98,253,855 (GRCm39) T106I probably damaging Het
Tmem150b A C 7: 4,719,368 (GRCm39) I184S probably null Het
Vmn1r216 A G 13: 23,284,081 (GRCm39) I255V probably benign Het
Vps13b G A 15: 35,533,531 (GRCm39) A868T probably damaging Het
Wdr81 C T 11: 75,341,620 (GRCm39) D1216N probably null Het
Zfp26 T C 9: 20,349,535 (GRCm39) Y343C possibly damaging Het
Zfp276 A T 8: 123,982,520 (GRCm39) I95F probably damaging Het
Zfp330 T C 8: 83,490,865 (GRCm39) E315G probably benign Het
Zfp683 C A 4: 133,781,862 (GRCm39) P56Q probably damaging Het
Zpld1 T A 16: 55,052,646 (GRCm39) S323C possibly damaging Het
Other mutations in Ankfn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01527:Ankfn1 APN 11 89,282,465 (GRCm39) missense probably benign 0.01
IGL02519:Ankfn1 APN 11 89,296,504 (GRCm39) missense probably benign
IGL02695:Ankfn1 APN 11 89,282,645 (GRCm39) missense probably damaging 0.99
IGL02818:Ankfn1 APN 11 89,429,292 (GRCm39) missense probably benign
IGL02821:Ankfn1 APN 11 89,282,442 (GRCm39) missense probably benign 0.00
IGL03166:Ankfn1 APN 11 89,429,264 (GRCm39) missense probably benign 0.19
R0056:Ankfn1 UTSW 11 89,282,502 (GRCm39) missense possibly damaging 0.71
R0070:Ankfn1 UTSW 11 89,283,128 (GRCm39) missense probably damaging 0.99
R0070:Ankfn1 UTSW 11 89,283,128 (GRCm39) missense probably damaging 0.99
R0200:Ankfn1 UTSW 11 89,332,792 (GRCm39) missense possibly damaging 0.67
R0427:Ankfn1 UTSW 11 89,296,423 (GRCm39) missense probably damaging 0.99
R0755:Ankfn1 UTSW 11 89,282,913 (GRCm39) missense probably benign
R1240:Ankfn1 UTSW 11 89,282,960 (GRCm39) missense probably damaging 0.99
R1534:Ankfn1 UTSW 11 89,413,977 (GRCm39) missense probably damaging 1.00
R1539:Ankfn1 UTSW 11 89,332,217 (GRCm39) missense probably damaging 1.00
R1548:Ankfn1 UTSW 11 89,417,367 (GRCm39) missense probably damaging 0.98
R1595:Ankfn1 UTSW 11 89,313,593 (GRCm39) critical splice donor site probably null
R1776:Ankfn1 UTSW 11 89,417,300 (GRCm39) missense possibly damaging 0.74
R1835:Ankfn1 UTSW 11 89,338,444 (GRCm39) missense probably benign 0.25
R2012:Ankfn1 UTSW 11 89,296,423 (GRCm39) missense probably damaging 0.99
R2037:Ankfn1 UTSW 11 89,346,946 (GRCm39) missense probably benign 0.13
R2175:Ankfn1 UTSW 11 89,417,363 (GRCm39) missense probably damaging 1.00
R2876:Ankfn1 UTSW 11 89,282,462 (GRCm39) missense possibly damaging 0.90
R3778:Ankfn1 UTSW 11 89,332,220 (GRCm39) missense probably damaging 1.00
R4720:Ankfn1 UTSW 11 89,332,252 (GRCm39) missense possibly damaging 0.50
R5001:Ankfn1 UTSW 11 89,332,268 (GRCm39) missense possibly damaging 0.85
R5318:Ankfn1 UTSW 11 89,282,754 (GRCm39) missense probably damaging 0.96
R5434:Ankfn1 UTSW 11 89,344,013 (GRCm39) missense probably damaging 1.00
R5458:Ankfn1 UTSW 11 89,325,636 (GRCm39) missense probably benign 0.00
R5710:Ankfn1 UTSW 11 89,394,751 (GRCm39) missense probably benign 0.02
R6457:Ankfn1 UTSW 11 89,282,670 (GRCm39) missense probably benign 0.00
R7026:Ankfn1 UTSW 11 89,530,403 (GRCm39) makesense probably null
R7356:Ankfn1 UTSW 11 89,325,599 (GRCm39) missense probably damaging 0.97
R7499:Ankfn1 UTSW 11 89,282,576 (GRCm39) missense probably benign 0.12
R7572:Ankfn1 UTSW 11 89,312,097 (GRCm39) missense probably benign
R7577:Ankfn1 UTSW 11 89,394,797 (GRCm39) missense probably benign 0.04
R7582:Ankfn1 UTSW 11 89,417,445 (GRCm39) missense probably benign 0.04
R7820:Ankfn1 UTSW 11 89,311,956 (GRCm39) missense probably damaging 0.99
R7908:Ankfn1 UTSW 11 89,296,360 (GRCm39) missense probably damaging 1.00
R7992:Ankfn1 UTSW 11 89,413,859 (GRCm39) missense probably benign 0.02
R8137:Ankfn1 UTSW 11 89,344,003 (GRCm39) missense probably benign 0.00
R8242:Ankfn1 UTSW 11 89,417,271 (GRCm39) critical splice donor site probably null
R8295:Ankfn1 UTSW 11 89,302,923 (GRCm39) missense probably benign 0.02
R8556:Ankfn1 UTSW 11 89,332,268 (GRCm39) missense possibly damaging 0.95
R8708:Ankfn1 UTSW 11 89,394,756 (GRCm39) missense possibly damaging 0.50
R8815:Ankfn1 UTSW 11 89,282,602 (GRCm39) missense probably damaging 0.96
R8835:Ankfn1 UTSW 11 89,429,379 (GRCm39) missense probably benign 0.00
R8928:Ankfn1 UTSW 11 89,429,279 (GRCm39) missense possibly damaging 0.67
R9011:Ankfn1 UTSW 11 89,417,444 (GRCm39) missense probably benign 0.00
R9062:Ankfn1 UTSW 11 89,325,583 (GRCm39) missense probably benign 0.32
R9129:Ankfn1 UTSW 11 89,312,042 (GRCm39) missense
R9153:Ankfn1 UTSW 11 89,302,845 (GRCm39) missense probably damaging 1.00
R9179:Ankfn1 UTSW 11 89,414,011 (GRCm39) missense probably benign 0.01
R9272:Ankfn1 UTSW 11 89,413,875 (GRCm39) missense probably benign 0.10
R9377:Ankfn1 UTSW 11 89,332,284 (GRCm39) missense possibly damaging 0.90
R9624:Ankfn1 UTSW 11 89,414,033 (GRCm39) missense probably benign 0.19
R9643:Ankfn1 UTSW 11 89,396,167 (GRCm39) missense probably benign 0.01
X0012:Ankfn1 UTSW 11 89,316,370 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGCCAGAGAACCAATCAGG -3'
(R):5'- AGGAGAGCTGTCATCCTGTC -3'

Sequencing Primer
(F):5'- TCAGGAGCCAGAAAGTCAAGC -3'
(R):5'- AGGAGAGCTGTCATCCTGTCTATTC -3'
Posted On 2016-09-01