Incidental Mutation 'R1123:Fem1a'
ID 95900
Institutional Source Beutler Lab
Gene Symbol Fem1a
Ensembl Gene ENSMUSG00000043683
Gene Name fem 1 homolog a
Synonyms Eprap
MMRRC Submission 039196-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.264) question?
Stock # R1123 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 56563810-56570610 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 56564791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Histidine at position 295 (D295H)
Ref Sequence ENSEMBL: ENSMUSP00000057996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060253]
AlphaFold Q9Z2G1
Predicted Effect probably damaging
Transcript: ENSMUST00000060253
AA Change: D295H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057996
Gene: ENSMUSG00000043683
AA Change: D295H

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.7%
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
Acaca T A 11: 84,154,906 (GRCm39) M987K probably benign Het
Akap3 A G 6: 126,842,929 (GRCm39) D516G probably benign Het
Arhgap12 A C 18: 6,031,822 (GRCm39) V573G probably damaging Het
Ccdc122 T C 14: 77,305,351 (GRCm39) S2P probably damaging Het
Cel T C 2: 28,446,752 (GRCm39) Y473C probably damaging Het
Cfap157 C T 2: 32,667,935 (GRCm39) V469M possibly damaging Het
Cyp2c40 C G 19: 39,801,121 (GRCm39) V45L probably benign Het
Dtx3l C T 16: 35,753,638 (GRCm39) A323T probably damaging Het
Erap1 A G 13: 74,821,762 (GRCm39) T706A probably benign Het
Esyt1 A T 10: 128,352,427 (GRCm39) V728E probably benign Het
Etnk2 A G 1: 133,301,010 (GRCm39) D259G probably benign Het
Evi5 T G 5: 107,968,444 (GRCm39) I184L probably benign Het
Hectd4 T C 5: 121,424,799 (GRCm39) F83S probably damaging Het
Hephl1 T C 9: 14,991,436 (GRCm39) T601A probably benign Het
Isoc1 T C 18: 58,804,695 (GRCm39) V201A probably benign Het
Kcnt2 A T 1: 140,501,346 (GRCm39) D830V probably damaging Het
Lrfn1 G T 7: 28,166,544 (GRCm39) C646F possibly damaging Het
Nbeal1 T C 1: 60,299,428 (GRCm39) Y1255H probably benign Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Or4c120 A G 2: 89,001,212 (GRCm39) S115P possibly damaging Het
Or5k16 A T 16: 58,736,697 (GRCm39) Y102* probably null Het
Or9m1 A C 2: 87,733,248 (GRCm39) I257M probably damaging Het
Pik3r4 G A 9: 105,540,328 (GRCm39) A739T probably benign Het
Prpf8 T C 11: 75,386,111 (GRCm39) V920A probably damaging Het
Slc16a7 A C 10: 125,067,016 (GRCm39) S208A probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slc35g2 A T 9: 100,435,047 (GRCm39) I208N probably damaging Het
Suclg1 A G 6: 73,233,210 (GRCm39) I51V probably benign Het
Thoc2l T C 5: 104,666,336 (GRCm39) L286P probably damaging Het
Other mutations in Fem1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00850:Fem1a APN 17 56,565,355 (GRCm39) missense possibly damaging 0.82
IGL02947:Fem1a APN 17 56,565,640 (GRCm39) missense probably benign 0.03
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
Predicted Primers PCR Primer
(F):5'- TCGTGGAGTACCTCATCCAGGAAC -3'
(R):5'- CAAGATTCTCTCCCGTATCAGCAGC -3'

Sequencing Primer
(F):5'- ATCCAGGAACAGCCGGG -3'
(R):5'- CATTTCATCAGGATCTGTAATGAGGG -3'
Posted On 2014-01-05