Incidental Mutation 'R1745:Fem1al'
ID 193938
Institutional Source Beutler Lab
Gene Symbol Fem1al
Ensembl Gene ENSMUSG00000078157
Gene Name fem-1 homolog A like
Synonyms 4931440F15Rik
MMRRC Submission 039777-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R1745 (G1)
Quality Score 214
Status Validated
Chromosome 11
Chromosomal Location 29772395-29775668 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29774723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 245 (S245P)
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: S245P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100568
Gene: ENSMUSG00000078157
AA Change: S245P

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,623,359 (GRCm39) V851E probably benign Het
Adam28 A G 14: 68,870,620 (GRCm39) I351T probably benign Het
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Ap2a1 T C 7: 44,556,369 (GRCm39) E285G probably damaging Het
Arfgef1 A C 1: 10,243,480 (GRCm39) I1023R probably damaging Het
Atp2c2 G A 8: 120,451,833 (GRCm39) V133I probably benign Het
Bpifb6 A G 2: 153,753,403 (GRCm39) T401A possibly damaging Het
Capn3 G A 2: 120,320,170 (GRCm39) V283M possibly damaging Het
Chd6 A T 2: 160,823,587 (GRCm39) V1261E probably damaging Het
Col22a1 C T 15: 71,878,636 (GRCm39) A174T probably damaging Het
Crnn T C 3: 93,054,198 (GRCm39) V27A probably benign Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dgkd T C 1: 87,859,766 (GRCm39) probably null Het
Diaph3 A G 14: 87,203,996 (GRCm39) L554P probably damaging Het
Ephb4 A T 5: 137,358,696 (GRCm39) H293L probably benign Het
Erbin G T 13: 103,975,957 (GRCm39) H646N probably damaging Het
Faiml T C 9: 99,116,511 (GRCm39) N60D probably benign Het
Flot1 A G 17: 36,135,552 (GRCm39) E102G probably damaging Het
Fryl G A 5: 73,190,204 (GRCm39) probably benign Het
Gad1-ps A T 10: 99,281,386 (GRCm39) noncoding transcript Het
Gtf3c3 A G 1: 54,473,371 (GRCm39) S81P probably damaging Het
Hs1bp3 C T 12: 8,371,690 (GRCm39) Q91* probably null Het
Igf1r T C 7: 67,819,661 (GRCm39) C324R probably damaging Het
Il23r G A 6: 67,443,275 (GRCm39) T276I probably damaging Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Kctd1 A T 18: 15,196,263 (GRCm39) probably benign Het
Kmt2b A T 7: 30,285,275 (GRCm39) M539K possibly damaging Het
Man2b1 T A 8: 85,820,563 (GRCm39) F617I probably damaging Het
Med15 G A 16: 17,473,570 (GRCm39) probably benign Het
Myo9b A G 8: 71,806,691 (GRCm39) K1543R probably damaging Het
N4bp2 A G 5: 65,948,165 (GRCm39) Y265C probably benign Het
N4bp2l2 A T 5: 150,585,424 (GRCm39) N185K probably benign Het
Nkx2-1 A G 12: 56,580,529 (GRCm39) M137T probably benign Het
Or51q1c A G 7: 103,653,270 (GRCm39) T269A probably benign Het
Prickle2 A T 6: 92,353,574 (GRCm39) Y631N probably damaging Het
Ptpro A G 6: 137,377,643 (GRCm39) T698A probably benign Het
Rapgef3 T C 15: 97,648,059 (GRCm39) I690V probably benign Het
Rnf44 G A 13: 54,830,005 (GRCm39) R271W probably damaging Het
Rundc3a GAGCC GAGCCAGCC 11: 102,291,739 (GRCm39) probably null Het
Ryr2 A G 13: 11,805,153 (GRCm39) Y904H probably damaging Het
Suz12 T C 11: 79,912,922 (GRCm39) L322P probably damaging Het
Tnfsf13 G A 11: 69,575,973 (GRCm39) A38V probably benign Het
Topbp1 G A 9: 103,186,044 (GRCm39) R62H probably benign Het
Tor1aip1 G T 1: 155,906,180 (GRCm39) probably null Het
Trpv4 A T 5: 114,771,215 (GRCm39) V438E probably damaging Het
Tsku A T 7: 98,001,386 (GRCm39) V315E possibly damaging Het
Ttc38 T C 15: 85,717,373 (GRCm39) L16P probably damaging Het
Vmn1r170 A G 7: 23,305,759 (GRCm39) I54V probably damaging Het
Vmn1r71 T C 7: 10,482,196 (GRCm39) D98G probably benign Het
Wdfy3 A T 5: 102,096,795 (GRCm39) D334E probably damaging Het
Zfhx3 T A 8: 109,682,494 (GRCm39) F3311Y unknown Het
Zswim9 A G 7: 13,003,482 (GRCm39) S123P 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
R1917:Fem1al UTSW 11 29,774,039 (GRCm39) missense probably benign 0.00
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'- CAAGATTCTCTCCCGTATCAGCAGC -3'
(R):5'- AATCTGGCAGCCTGGAGATCCTAC -3'

Sequencing Primer
(F):5'- AACTCTTGAGGCGTAGTCAC -3'
(R):5'- GAGATCCTACAACTGCTGCTGAG -3'
Posted On 2014-05-23