Incidental Mutation 'R7501:Fem1c'
ID 581506
Institutional Source Beutler Lab
Gene Symbol Fem1c
Ensembl Gene ENSMUSG00000033319
Gene Name fem 1 homolog c
Synonyms 2610312A07Rik, 3632443A22Rik
MMRRC Submission 045574-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7501 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 46637673-46659038 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46638868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 378 (M378K)
Ref Sequence ENSEMBL: ENSMUSP00000038816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036226]
AlphaFold Q8CEF1
Predicted Effect probably damaging
Transcript: ENSMUST00000036226
AA Change: M378K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038816
Gene: ENSMUSG00000033319
AA Change: M378K

DomainStartEndE-ValueType
ANK 2 31 1.12e3 SMART
ANK 40 70 1.51e-4 SMART
ANK 82 111 2.77e-3 SMART
ANK 115 144 1.12e-3 SMART
ANK 148 177 7.24e-7 SMART
ANK 181 210 9.13e-4 SMART
ANK 213 243 5.67e0 SMART
low complexity region 381 394 N/A INTRINSIC
ANK 481 523 5.67e0 SMART
ANK 527 556 1.88e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (61/61)
MGI Phenotype PHENOTYPE: Homozygous mutant mice are fertile and show no overt abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 A G 3: 36,142,974 (GRCm39) N503S probably benign Het
Adam1a C T 5: 121,657,011 (GRCm39) A761T possibly damaging Het
Amn1 C T 6: 149,086,529 (GRCm39) M44I probably benign Het
Ankrd44 T C 1: 54,688,522 (GRCm39) E238G Het
Ap3b2 A T 7: 81,123,194 (GRCm39) I440K probably damaging Het
Atp2a1 G A 7: 126,049,344 (GRCm39) T566I probably benign Het
B3galnt1 T C 3: 69,482,632 (GRCm39) I210V probably benign Het
Bag5 T C 12: 111,676,722 (GRCm39) K367R probably benign Het
Cdc25b T C 2: 131,036,080 (GRCm39) Y410H probably damaging Het
Cgref1 G T 5: 31,102,800 (GRCm39) P7Q probably damaging Het
Cnot6 T C 11: 49,576,159 (GRCm39) I136V probably benign Het
Comp A G 8: 70,832,059 (GRCm39) D500G possibly damaging Het
Dnah7b T C 1: 46,395,714 (GRCm39) L3872P probably damaging Het
Dync2h1 A T 9: 7,175,336 (GRCm39) L91Q possibly damaging Het
Fancd2 T C 6: 113,525,364 (GRCm39) V280A possibly damaging Het
Fat4 T A 3: 39,012,597 (GRCm39) Y2297* probably null Het
Gata6 A G 18: 11,054,082 (GRCm39) T4A probably damaging Het
Gatb G C 3: 85,544,297 (GRCm39) V422L probably damaging Het
Gfpt1 T A 6: 87,059,508 (GRCm39) D510E probably benign Het
Gria4 A T 9: 4,502,436 (GRCm39) Y366N probably benign Het
Gucy1b1 T C 3: 81,942,666 (GRCm39) H492R probably damaging Het
H2bc6 A G 13: 23,769,776 (GRCm39) I55T possibly damaging Het
Hecw2 T C 1: 53,953,031 (GRCm39) probably null Het
Hnrnph1 A C 11: 50,270,383 (GRCm39) E62D probably benign Het
Itga2 A G 13: 115,012,095 (GRCm39) V274A probably damaging Het
Kdm5d T A Y: 941,488 (GRCm39) W1230R probably damaging Het
Lctl A T 9: 64,038,861 (GRCm39) M317L probably benign Het
Lrp6 T C 6: 134,463,471 (GRCm39) D570G probably damaging Het
Lrrc9 G T 12: 72,496,490 (GRCm39) M39I probably damaging Het
Ltbp2 A T 12: 84,877,419 (GRCm39) I402N probably damaging Het
Mst1 G A 9: 107,959,748 (GRCm39) G297D probably damaging Het
Muc6 G C 7: 141,217,659 (GRCm39) P2338R probably damaging Het
Nbr1 G A 11: 101,457,026 (GRCm39) R163Q probably damaging Het
Nlrp4f A G 13: 65,342,143 (GRCm39) F501L probably damaging Het
Nup133 A C 8: 124,649,153 (GRCm39) I563S probably benign Het
Oacyl T G 18: 65,858,369 (GRCm39) probably null Het
Oog4 CAA CA 4: 143,164,022 (GRCm39) probably null Het
Plxna2 C T 1: 194,326,203 (GRCm39) R46C possibly damaging Het
Ppp1r26 T A 2: 28,340,749 (GRCm39) D126E probably damaging Het
Prl6a1 A T 13: 27,500,282 (GRCm39) R84S possibly damaging Het
Ptprz1 C T 6: 23,001,746 (GRCm39) Q1279* probably null Het
Ptx4 C T 17: 25,344,166 (GRCm39) T472I possibly damaging Het
Rabgap1l A G 1: 160,528,358 (GRCm39) V416A probably damaging Het
Rbfox2 A T 15: 76,989,834 (GRCm39) D231E probably benign Het
Reln A T 5: 22,432,636 (GRCm39) F121L possibly damaging Het
Rfx7 G A 9: 72,524,054 (GRCm39) V415I probably benign Het
Scaf4 A T 16: 90,026,964 (GRCm39) M951K unknown Het
Sdf4 T C 4: 156,080,977 (GRCm39) probably null Het
Sec16a T C 2: 26,331,863 (GRCm39) T51A probably damaging Het
Sema3a A G 5: 13,607,008 (GRCm39) N281S probably damaging Het
Snai2 G A 16: 14,524,754 (GRCm39) V87I possibly damaging Het
Spata31f1e T C 4: 42,791,357 (GRCm39) E925G probably damaging Het
Synj2 T A 17: 6,040,514 (GRCm39) S197T possibly damaging Het
Syt6 A T 3: 103,495,018 (GRCm39) M328L probably benign Het
Tdrd12 A G 7: 35,177,516 (GRCm39) V946A unknown Het
Trat1 A T 16: 48,574,657 (GRCm39) probably null Het
Vmn1r75 T A 7: 11,614,997 (GRCm39) I243K possibly damaging Het
Vmn2r83 G A 10: 79,327,771 (GRCm39) C793Y probably damaging Het
Wnt9a G A 11: 59,219,583 (GRCm39) G203D probably damaging Het
Xrn2 T C 2: 146,871,676 (GRCm39) I366T probably damaging Het
Zfp280d A G 9: 72,269,224 (GRCm39) D787G possibly damaging Het
Zfp706 T C 15: 37,002,169 (GRCm39) T53A probably damaging Het
Other mutations in Fem1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01594:Fem1c APN 18 46,639,343 (GRCm39) missense probably benign 0.00
IGL01895:Fem1c APN 18 46,638,629 (GRCm39) missense probably benign 0.00
IGL02612:Fem1c APN 18 46,638,781 (GRCm39) missense probably benign 0.05
IGL02628:Fem1c APN 18 46,639,019 (GRCm39) missense probably damaging 1.00
R0605:Fem1c UTSW 18 46,638,227 (GRCm39) missense probably benign 0.18
R0655:Fem1c UTSW 18 46,638,227 (GRCm39) missense probably benign 0.18
R0735:Fem1c UTSW 18 46,638,227 (GRCm39) missense probably benign 0.18
R1476:Fem1c UTSW 18 46,657,552 (GRCm39) missense probably damaging 1.00
R1509:Fem1c UTSW 18 46,657,280 (GRCm39) missense probably benign
R1704:Fem1c UTSW 18 46,639,263 (GRCm39) missense probably benign 0.05
R1834:Fem1c UTSW 18 46,638,349 (GRCm39) missense probably damaging 1.00
R2297:Fem1c UTSW 18 46,639,228 (GRCm39) missense possibly damaging 0.84
R4609:Fem1c UTSW 18 46,639,015 (GRCm39) missense probably damaging 1.00
R5119:Fem1c UTSW 18 46,639,436 (GRCm39) missense probably damaging 1.00
R6505:Fem1c UTSW 18 46,638,942 (GRCm39) missense possibly damaging 0.68
R7749:Fem1c UTSW 18 46,657,185 (GRCm39) missense probably damaging 1.00
R7919:Fem1c UTSW 18 46,657,370 (GRCm39) missense probably damaging 1.00
R8730:Fem1c UTSW 18 46,638,668 (GRCm39) missense possibly damaging 0.83
R9597:Fem1c UTSW 18 46,638,362 (GRCm39) missense probably damaging 1.00
R9651:Fem1c UTSW 18 46,657,674 (GRCm39) missense
R9716:Fem1c UTSW 18 46,657,561 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AACTGCAATGGGTCAGCTGG -3'
(R):5'- GCAGAAGAGTTAGAAGGTCTTATTGC -3'

Sequencing Primer
(F):5'- TCAGCTGGACACTGAGTTTG -3'
(R):5'- TGCTGATCCTGATGAGATGAGAATGC -3'
Posted On 2019-10-17