Incidental Mutation 'IGL01866:Fam217b'
ID178523
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam217b
Ensembl Gene ENSMUSG00000070476
Gene Namefamily with sequence similarity 217, member B
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01866
Quality Score
Status
Chromosome2
Chromosomal Location178414524-178424428 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 178420431 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 63 (T63A)
Ref Sequence ENSEMBL: ENSMUSP00000091805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094251]
Predicted Effect probably benign
Transcript: ENSMUST00000094251
AA Change: T63A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000091805
Gene: ENSMUSG00000070476
AA Change: T63A

DomainStartEndE-ValueType
Pfam:FAM217 103 331 2.2e-91 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129003
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430007A20Rik T C 4: 144,528,549 Y180H possibly damaging Het
Abi3bp A T 16: 56,671,973 I1361L probably benign Het
Amph A T 13: 19,142,002 D634V probably damaging Het
Ank1 G A 8: 23,093,855 V317I possibly damaging Het
Ap4e1 G A 2: 127,046,910 V460I possibly damaging Het
Arhgap19 A T 19: 41,786,577 H198Q probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cacna1g C T 11: 94,457,111 G717D probably damaging Het
Camkk2 A G 5: 122,763,950 S99P probably damaging Het
Catsperb T A 12: 101,509,311 Y371* probably null Het
Cbl A T 9: 44,153,825 C735* probably null Het
Ccdc146 C A 5: 21,333,054 A91S probably damaging Het
Col1a2 G T 6: 4,524,132 D531Y probably damaging Het
Dscam T A 16: 96,685,350 T1042S probably benign Het
Dtnb A G 12: 3,732,626 Y363C probably benign Het
Ear10 A G 14: 43,923,328 L14P probably damaging Het
Egf A G 3: 129,735,880 S294P probably benign Het
Erbb3 T C 10: 128,569,368 *1340W probably null Het
Fig4 G A 10: 41,232,164 P680L possibly damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm6882 T A 7: 21,427,587 I119F probably damaging Het
Hdac10 C A 15: 89,124,533 G442W probably damaging Het
Mc2r C T 18: 68,407,423 M266I possibly damaging Het
Mep1b A G 18: 21,094,993 Q551R probably benign Het
Mtrf1 T A 14: 79,401,508 C27S probably benign Het
Myo5c T A 9: 75,269,582 M603K probably benign Het
Nuf2 A G 1: 169,498,838 L448P possibly damaging Het
Olfr1535 T C 13: 21,555,173 N283S probably benign Het
Olfr390 A T 11: 73,787,828 I297L probably benign Het
Olfr517 C T 7: 108,868,799 M118I possibly damaging Het
Olfr952 A T 9: 39,426,729 M114K probably damaging Het
Ppp2r5c T C 12: 110,567,827 Y375H probably benign Het
Pstpip2 A G 18: 77,877,625 I317M probably benign Het
Pxdn A G 12: 29,984,571 T208A probably benign Het
Rab3gap1 C T 1: 127,891,080 H116Y probably damaging Het
Rarb T A 14: 16,443,751 D179V probably benign Het
Rasal1 G A 5: 120,675,423 A621T probably damaging Het
Rnf6 G A 5: 146,210,907 R434C probably damaging Het
Scn10a C A 9: 119,635,502 E1011* probably null Het
Sec24d C T 3: 123,293,595 Q137* probably null Het
Slc35g1 C A 19: 38,403,194 A308E probably damaging Het
Smtnl1 C A 2: 84,818,745 C55F possibly damaging Het
Stt3a A T 9: 36,734,366 D676E probably benign Het
Sytl2 T C 7: 90,381,839 probably benign Het
Trabd2b A G 4: 114,408,920 T44A probably damaging Het
Trim12a T C 7: 104,304,153 probably benign Het
Tti1 A T 2: 158,007,698 D540E probably benign Het
Tubgcp6 A G 15: 89,103,488 V1094A probably benign Het
Vmn1r34 A G 6: 66,637,389 Y122H probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp579 T A 7: 4,994,258 Q218L possibly damaging Het
Other mutations in Fam217b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01449:Fam217b APN 2 178421150 missense probably damaging 0.96
IGL01974:Fam217b APN 2 178421227 missense probably damaging 1.00
IGL02376:Fam217b APN 2 178417573 missense probably benign
R0787:Fam217b UTSW 2 178420909 missense probably benign 0.01
R0833:Fam217b UTSW 2 178420989 missense probably benign 0.00
R0836:Fam217b UTSW 2 178420989 missense probably benign 0.00
R1381:Fam217b UTSW 2 178420425 missense probably benign
R1903:Fam217b UTSW 2 178420581 missense probably benign 0.32
R5953:Fam217b UTSW 2 178420360 missense probably damaging 1.00
R6699:Fam217b UTSW 2 178420417 missense probably benign
R7226:Fam217b UTSW 2 178421203 missense probably benign 0.26
R8517:Fam217b UTSW 2 178420772 missense probably benign 0.30
Posted On2014-05-07