Incidental Mutation 'IGL00850:Fem1a'
ID 10756
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fem1a
Ensembl Gene ENSMUSG00000043683
Gene Name fem 1 homolog a
Synonyms Eprap
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # IGL00850
Quality Score
Status
Chromosome 17
Chromosomal Location 56563810-56570610 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56565355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 483 (I483V)
Ref Sequence ENSEMBL: ENSMUSP00000057996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060253]
AlphaFold Q9Z2G1
Predicted Effect possibly damaging
Transcript: ENSMUST00000060253
AA Change: I483V

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000057996
Gene: ENSMUSG00000043683
AA Change: I483V

DomainStartEndE-ValueType
ANK 2 33 2.43e3 SMART
ANK 40 70 1.7e-3 SMART
ANK 82 111 1.57e-2 SMART
ANK 115 145 1.15e0 SMART
ANK 149 178 8.19e-6 SMART
ANK 182 211 1.93e-2 SMART
ANK 214 243 1.65e-1 SMART
low complexity region 280 289 N/A INTRINSIC
low complexity region 417 428 N/A INTRINSIC
low complexity region 479 490 N/A INTRINSIC
ANK 519 561 7.83e-3 SMART
ANK 565 594 9.78e-4 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous knockout results in an increased susceptibility to DSS-induced colitis and colitis-associated tumorigenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cand1 C A 10: 119,047,040 (GRCm39) V817L probably benign Het
Cdc16 T G 8: 13,817,575 (GRCm39) Y295* probably null Het
Cdk12 T A 11: 98,113,491 (GRCm39) N758K unknown Het
Cep295 A G 9: 15,234,148 (GRCm39) L2216S probably benign Het
Chpf2 A G 5: 24,797,259 (GRCm39) E735G probably damaging Het
Chrdl2 A G 7: 99,683,848 (GRCm39) T432A probably damaging Het
Cyp4a12b T A 4: 115,295,246 (GRCm39) probably null Het
D130043K22Rik T G 13: 25,051,157 (GRCm39) D464E probably damaging Het
Dst G T 1: 34,345,705 (GRCm39) A7622S probably damaging Het
Fdx1 A T 9: 51,859,949 (GRCm39) I127N probably damaging Het
Gcc2 C A 10: 58,094,070 (GRCm39) D51E probably benign Het
Glrb A G 3: 80,769,088 (GRCm39) S178P probably damaging Het
Inpp4b A G 8: 82,583,379 (GRCm39) Q161R probably damaging Het
Lrrc45 T C 11: 120,611,436 (GRCm39) probably benign Het
Myh3 T C 11: 66,981,681 (GRCm39) Y757H probably damaging Het
Myo1h A C 5: 114,453,132 (GRCm39) probably benign Het
Nudt13 T A 14: 20,356,418 (GRCm39) S114R probably damaging Het
Omg T C 11: 79,393,540 (GRCm39) N106S possibly damaging Het
Pbrm1 T C 14: 30,809,576 (GRCm39) V1163A probably damaging Het
Pi4k2b T A 5: 52,918,292 (GRCm39) Y350* probably null Het
Prr29 C A 11: 106,266,033 (GRCm39) T32K possibly damaging Het
Psd4 C T 2: 24,284,298 (GRCm39) A54V probably benign Het
Scd3 A G 19: 44,224,247 (GRCm39) H160R probably damaging Het
Shroom3 T C 5: 93,098,924 (GRCm39) L1387P probably damaging Het
Stk35 A G 2: 129,643,912 (GRCm39) T299A probably damaging Het
Thsd7b G A 1: 130,092,814 (GRCm39) S1238N probably benign Het
Utp11 T C 4: 124,576,250 (GRCm39) K131R probably benign Het
Vps50 C T 6: 3,532,177 (GRCm39) Q227* probably null Het
Zan T C 5: 137,462,375 (GRCm39) T935A unknown Het
Other mutations in Fem1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02947:Fem1a APN 17 56,565,640 (GRCm39) missense probably benign 0.03
R1123:Fem1a UTSW 17 56,564,791 (GRCm39) missense probably damaging 1.00
R1450:Fem1a UTSW 17 56,564,579 (GRCm39) missense probably damaging 1.00
R2165:Fem1a UTSW 17 56,564,686 (GRCm39) missense probably benign
R2763:Fem1a UTSW 17 56,564,537 (GRCm39) missense probably benign 0.01
R6273:Fem1a UTSW 17 56,564,083 (GRCm39) missense possibly damaging 0.78
R7384:Fem1a UTSW 17 56,564,537 (GRCm39) missense probably benign 0.01
R7606:Fem1a UTSW 17 56,563,946 (GRCm39) missense probably damaging 0.99
R7783:Fem1a UTSW 17 56,564,522 (GRCm39) missense probably benign 0.00
R7804:Fem1a UTSW 17 56,565,068 (GRCm39) missense probably damaging 1.00
R8191:Fem1a UTSW 17 56,565,356 (GRCm39) missense probably damaging 0.99
Posted On 2012-12-06