Incidental Mutation 'R1917:Fem1al'
ID 212623
Institutional Source Beutler Lab
Gene Symbol Fem1al
Ensembl Gene ENSMUSG00000078157
Gene Name fem-1 homolog A like
Synonyms 4931440F15Rik
MMRRC Submission 039935-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R1917 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 29772395-29775668 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29774039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 473 (S473P)
Ref Sequence ENSEMBL: ENSMUSP00000100568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058902] [ENSMUST00000104962]
AlphaFold Q8C0T1
Predicted Effect probably benign
Transcript: ENSMUST00000058902
SMART Domains Protein: ENSMUSP00000051080
Gene: ENSMUSG00000044072

DomainStartEndE-ValueType
low complexity region 36 47 N/A INTRINSIC
WD40 49 91 1.79e-1 SMART
WD40 94 136 1.42e-4 SMART
WD40 139 178 5.31e-4 SMART
WD40 184 224 8.84e1 SMART
WD40 225 263 3.75e-4 SMART
WD40 313 353 4.69e-5 SMART
WD40 356 394 2.22e0 SMART
WD40 397 436 1.72e0 SMART
WD40 505 546 1.7e2 SMART
WD40 552 592 4.55e-3 SMART
low complexity region 613 625 N/A INTRINSIC
Pfam:HELP 653 715 1.9e-22 PFAM
WD40 716 757 9.24e-1 SMART
WD40 760 802 6.53e-4 SMART
WD40 805 844 2.98e-1 SMART
WD40 856 891 8.52e1 SMART
WD40 892 929 2.09e-2 SMART
WD40 986 1026 1.18e-1 SMART
WD40 1032 1068 3.44e0 SMART
WD40 1071 1111 2.58e-1 SMART
WD40 1180 1221 9.24e-1 SMART
WD40 1227 1267 3.85e-1 SMART
low complexity region 1280 1291 N/A INTRINSIC
Pfam:HELP 1329 1402 5e-15 PFAM
WD40 1404 1447 2.66e0 SMART
WD40 1450 1492 1.85e0 SMART
WD40 1495 1534 2.97e0 SMART
WD40 1543 1582 7.1e1 SMART
WD40 1584 1629 9.51e1 SMART
WD40 1675 1715 3.05e-4 SMART
WD40 1718 1758 8.84e1 SMART
WD40 1759 1798 7.16e-1 SMART
WD40 1869 1910 1.53e1 SMART
WD40 1916 1956 4.62e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000104962
AA Change: S473P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000100568
Gene: ENSMUSG00000078157
AA Change: S473P

DomainStartEndE-ValueType
ANK 19 50 1.53e3 SMART
ANK 57 87 1.7e-3 SMART
ANK 99 128 3.6e-2 SMART
ANK 132 162 3.31e-1 SMART
ANK 166 195 8.19e-6 SMART
ANK 199 228 7.83e-3 SMART
ANK 231 260 1.8e-2 SMART
low complexity region 297 306 N/A INTRINSIC
low complexity region 434 445 N/A INTRINSIC
low complexity region 496 507 N/A INTRINSIC
ANK 536 578 8.39e-3 SMART
ANK 582 611 3.91e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109452
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.8%
  • 20x: 93.6%
Validation Efficiency 100% (83/83)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,982,341 (GRCm39) probably benign Het
Adgre5 A G 8: 84,455,738 (GRCm39) V190A probably damaging Het
Akap6 A G 12: 53,151,395 (GRCm39) N1153S probably benign Het
Aldh1a7 G A 19: 20,704,819 (GRCm39) H20Y probably benign Het
B430306N03Rik A G 17: 48,631,176 (GRCm39) E278G probably benign Het
Cacna1b C A 2: 24,506,891 (GRCm39) R72L probably null Het
Cc2d2a C G 5: 43,863,564 (GRCm39) S675R probably damaging Het
Ccdc88b T A 19: 6,826,594 (GRCm39) E1040D probably damaging Het
Cmtm7 A G 9: 114,592,432 (GRCm39) V55A probably damaging Het
Coq4 A C 2: 29,679,938 (GRCm39) T77P probably damaging Het
Cyp2j11 C A 4: 96,228,211 (GRCm39) W136L probably damaging Het
Dctn2 T A 10: 127,110,918 (GRCm39) Y86* probably null Het
Ddx56 A G 11: 6,213,937 (GRCm39) probably null Het
Dop1b T C 16: 93,513,150 (GRCm39) S30P probably damaging Het
Ep400 T C 5: 110,851,441 (GRCm39) K1347R unknown Het
Fat3 T A 9: 15,908,353 (GRCm39) T2550S possibly damaging Het
Fcrla G T 1: 170,755,095 (GRCm39) C5* probably null Het
Fermt1 T A 2: 132,764,762 (GRCm39) D365V probably damaging Het
Fhod3 A G 18: 25,123,022 (GRCm39) probably benign Het
Fhod3 A G 18: 25,218,658 (GRCm39) D807G probably benign Het
Fnip1 C T 11: 54,371,510 (GRCm39) T177I probably damaging Het
Gart T C 16: 91,425,037 (GRCm39) Y662C probably damaging Het
Gda A T 19: 21,375,004 (GRCm39) probably benign Het
Gk A G X: 84,804,186 (GRCm39) I85T probably damaging Het
Gm3476 A G 14: 6,118,358 (GRCm38) L255P possibly damaging Het
Gm9966 T C 7: 95,607,684 (GRCm39) C2R unknown Het
Gnpda1 T C 18: 38,466,243 (GRCm39) probably null Het
Gtf2h4 G A 17: 35,981,090 (GRCm39) L246F possibly damaging Het
Hao1 A T 2: 134,364,980 (GRCm39) S216T probably benign Het
Hnrnpr C A 4: 136,059,799 (GRCm39) S301* probably null Het
Hsd3b2 A G 3: 98,619,342 (GRCm39) I201T probably benign Het
Jade2 T C 11: 51,709,365 (GRCm39) E548G possibly damaging Het
Katnbl1 T C 2: 112,239,524 (GRCm39) I241T probably benign Het
Keap1 G T 9: 21,145,102 (GRCm39) Q299K probably benign Het
Kif1a T C 1: 92,946,753 (GRCm39) I1650V possibly damaging Het
Lrba G A 3: 86,571,808 (GRCm39) G275R probably damaging Het
Map3k9 C A 12: 81,827,564 (GRCm39) E29* probably null Het
Mat1a G A 14: 40,843,394 (GRCm39) V307I probably damaging Het
Mcm2 A T 6: 88,868,785 (GRCm39) M324K possibly damaging Het
Metap1d T C 2: 71,341,871 (GRCm39) V155A probably damaging Het
Mtbp A G 15: 55,428,073 (GRCm39) probably benign Het
Myh14 T C 7: 44,307,349 (GRCm39) T231A probably benign Het
Mylk4 A T 13: 32,908,836 (GRCm39) D90E probably benign Het
Myo15b T A 11: 115,773,080 (GRCm39) I1837K possibly damaging Het
Myo3a T A 2: 22,296,733 (GRCm39) H242Q probably damaging Het
Nxn A G 11: 76,152,498 (GRCm39) probably benign Het
Or6c2 T A 10: 129,362,918 (GRCm39) V274D probably damaging Het
Pak3 C A X: 142,574,298 (GRCm39) A553E possibly damaging Het
Pdia2 T A 17: 26,417,079 (GRCm39) T122S possibly damaging Het
Pira12 C T 7: 3,900,637 (GRCm39) V38M probably damaging Het
Plod2 A G 9: 92,463,310 (GRCm39) T132A probably benign Het
Ptprz1 T A 6: 23,035,039 (GRCm39) probably benign Het
Rad54b A C 4: 11,601,693 (GRCm39) N416T probably damaging Het
Recql4 A T 15: 76,588,037 (GRCm39) Y1142* probably null Het
Rnf216 A G 5: 142,978,561 (GRCm39) V859A probably benign Het
Scnm1 G T 3: 95,037,584 (GRCm39) P161T possibly damaging Het
Serpinb6b A G 13: 33,162,223 (GRCm39) I222V probably benign Het
Serpinf1 A G 11: 75,301,833 (GRCm39) I274T possibly damaging Het
Slc28a1 T C 7: 80,819,334 (GRCm39) F641L probably benign Het
Slc8a2 A G 7: 15,886,845 (GRCm39) I657V probably benign Het
Smchd1 A G 17: 71,714,232 (GRCm39) I877T possibly damaging Het
Spata31 T C 13: 65,068,679 (GRCm39) Y276H possibly damaging Het
Spire2 A G 8: 124,089,810 (GRCm39) D447G probably benign Het
Stk3 G A 15: 35,073,363 (GRCm39) T119I probably damaging Het
Stxbp5 C A 10: 9,688,042 (GRCm39) V420F possibly damaging Het
Sult2a5 T C 7: 13,404,609 (GRCm39) F282S probably damaging Het
Syk A T 13: 52,776,744 (GRCm39) D248V probably damaging Het
Thoc6 C T 17: 23,888,364 (GRCm39) probably benign Het
Timd5 A G 11: 46,419,358 (GRCm39) D58G possibly damaging Het
Tll2 T A 19: 41,116,936 (GRCm39) D293V possibly damaging Het
Umodl1 G A 17: 31,203,017 (GRCm39) V457M probably damaging Het
Usp19 T A 9: 108,376,524 (GRCm39) C689* probably null Het
Usp24 T G 4: 106,267,483 (GRCm39) V1955G probably damaging Het
Vmn1r226 T C 17: 20,907,842 (GRCm39) S25P probably damaging Het
Vmn2r69 C T 7: 85,060,891 (GRCm39) C231Y probably damaging Het
Wdr73 C T 7: 80,543,081 (GRCm39) D176N probably benign Het
Wnt7b T A 15: 85,443,281 (GRCm39) I41F probably damaging Het
Zfhx3 T C 8: 109,682,880 (GRCm39) S3440P unknown Het
Zfp52 T G 17: 21,780,426 (GRCm39) N91K probably benign Het
Zfp930 C A 8: 69,681,357 (GRCm39) Q350K probably benign Het
Zfp949 T C 9: 88,452,115 (GRCm39) S562P probably damaging Het
Other mutations in Fem1al
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Fem1al APN 11 29,774,755 (GRCm39) missense probably damaging 1.00
IGL01560:Fem1al APN 11 29,774,643 (GRCm39) nonsense probably null
IGL02160:Fem1al APN 11 29,773,593 (GRCm39) nonsense probably null
IGL03058:Fem1al APN 11 29,774,656 (GRCm39) missense probably benign 0.01
IGL03107:Fem1al APN 11 29,774,360 (GRCm39) missense probably damaging 1.00
R0504:Fem1al UTSW 11 29,774,990 (GRCm39) missense probably damaging 1.00
R0615:Fem1al UTSW 11 29,774,515 (GRCm39) missense probably damaging 1.00
R1167:Fem1al UTSW 11 29,773,567 (GRCm39) missense probably damaging 1.00
R1329:Fem1al UTSW 11 29,773,553 (GRCm39) missense probably benign 0.01
R1525:Fem1al UTSW 11 29,773,994 (GRCm39) missense probably benign 0.11
R1745:Fem1al UTSW 11 29,774,723 (GRCm39) missense probably benign
R1918:Fem1al UTSW 11 29,774,039 (GRCm39) missense probably benign 0.00
R2338:Fem1al UTSW 11 29,773,718 (GRCm39) missense probably benign 0.01
R4359:Fem1al UTSW 11 29,774,669 (GRCm39) missense probably benign 0.12
R4757:Fem1al UTSW 11 29,775,454 (GRCm39) start codon destroyed probably null 1.00
R4859:Fem1al UTSW 11 29,775,178 (GRCm39) missense probably damaging 1.00
R5595:Fem1al UTSW 11 29,774,288 (GRCm39) missense probably benign 0.00
R7084:Fem1al UTSW 11 29,775,009 (GRCm39) missense probably damaging 0.99
R7447:Fem1al UTSW 11 29,774,122 (GRCm39) missense probably benign
R8098:Fem1al UTSW 11 29,774,450 (GRCm39) missense possibly damaging 0.78
R8825:Fem1al UTSW 11 29,773,696 (GRCm39) missense probably benign 0.00
R9389:Fem1al UTSW 11 29,775,107 (GRCm39) missense probably damaging 1.00
R9418:Fem1al UTSW 11 29,774,632 (GRCm39) missense probably damaging 0.98
R9784:Fem1al UTSW 11 29,775,253 (GRCm39) missense probably damaging 1.00
Z1088:Fem1al UTSW 11 29,775,007 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGTCCACCGCCATGTGTAG -3'
(R):5'- GTATCCGTCTGTGGAAGTATGCC -3'

Sequencing Primer
(F):5'- ACCGCCATGTGTAGTGGGG -3'
(R):5'- GTATGCCTTGGACATGCAAC -3'
Posted On 2014-07-14