Incidental Mutation 'R6527:Flacc1'
ID 521930
Institutional Source Beutler Lab
Gene Symbol Flacc1
Ensembl Gene ENSMUSG00000047528
Gene Name flagellum associated containing coiled-coil domains 1
Synonyms Als2cr12, 4933405P16Rik, 4933425F06Rik
MMRRC Submission 044653-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R6527 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 58696085-58735167 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 58731572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000139420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055313] [ENSMUST00000188772] [ENSMUST00000191252] [ENSMUST00000191565]
AlphaFold Q8BVM7
Predicted Effect probably null
Transcript: ENSMUST00000055313
AA Change: M1V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000062497
Gene: ENSMUSG00000047528
AA Change: M1V

DomainStartEndE-ValueType
coiled coil region 125 221 N/A INTRINSIC
coiled coil region 276 359 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185953
Predicted Effect probably null
Transcript: ENSMUST00000188772
AA Change: M1V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000140780
Gene: ENSMUSG00000047528
AA Change: M1V

DomainStartEndE-ValueType
coiled coil region 125 221 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188839
Predicted Effect probably null
Transcript: ENSMUST00000191252
AA Change: M1V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect probably null
Transcript: ENSMUST00000191565
AA Change: M1V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000139420
Gene: ENSMUSG00000047528
AA Change: M1V

DomainStartEndE-ValueType
coiled coil region 125 221 N/A INTRINSIC
coiled coil region 276 359 N/A INTRINSIC
low complexity region 386 404 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,288 (GRCm39) T826A probably damaging Het
Abca16 T A 7: 120,076,995 (GRCm39) I686N possibly damaging Het
Abcb6 T C 1: 75,154,132 (GRCm39) probably null Het
Adgrl3 A C 5: 81,935,364 (GRCm39) E1299A probably damaging Het
Amd2 A C 10: 35,586,802 (GRCm39) Y252D probably damaging Het
Cfap74 A G 4: 155,506,722 (GRCm39) probably null Het
Dhx29 G T 13: 113,069,076 (GRCm39) K135N probably damaging Het
Dlg5 T A 14: 24,240,516 (GRCm39) D245V possibly damaging Het
Dscaml1 C T 9: 45,623,482 (GRCm39) Q83* probably null Het
Dsp T A 13: 38,379,849 (GRCm39) L1599Q probably damaging Het
Duox2 A G 2: 122,125,095 (GRCm39) V369A probably benign Het
Gbe1 T A 16: 70,230,560 (GRCm39) probably null Het
Gm7298 A G 6: 121,746,669 (GRCm39) K600R probably benign Het
Heatr4 C T 12: 84,026,537 (GRCm39) G240E probably damaging Het
Jakmip2 A G 18: 43,689,589 (GRCm39) V651A possibly damaging Het
Jam3 C T 9: 27,066,640 (GRCm39) R8Q unknown Het
Letm2 A G 8: 26,082,522 (GRCm39) probably benign Het
Lmod3 T C 6: 97,224,339 (GRCm39) D494G probably benign Het
Mast2 T C 4: 116,172,136 (GRCm39) D604G probably damaging Het
Mif4gd C T 11: 115,500,101 (GRCm39) probably null Het
Msr1 T C 8: 40,077,274 (GRCm39) E112G possibly damaging Het
Mtus2 A G 5: 148,214,408 (GRCm39) probably null Het
Muc4 A G 16: 32,753,433 (GRCm38) H1103R probably benign Het
Nudt14 T A 12: 112,898,507 (GRCm39) I198F possibly damaging Het
Or11j4 T A 14: 50,630,885 (GRCm39) L224* probably null Het
Or13p3 T A 4: 118,567,045 (GRCm39) F147Y possibly damaging Het
Or1n1b T C 2: 36,780,594 (GRCm39) T89A probably benign Het
Osbpl8 T C 10: 111,129,066 (GRCm39) I884T probably benign Het
Podxl2 T C 6: 88,819,912 (GRCm39) N550S probably damaging Het
Ppp1r9a A G 6: 5,045,949 (GRCm39) Y151C probably damaging Het
Prss42 T C 9: 110,629,924 (GRCm39) V226A possibly damaging Het
Psmd12 A G 11: 107,379,794 (GRCm39) I116V probably damaging Het
Psme4 A C 11: 30,782,175 (GRCm39) I872L probably benign Het
Rab11fip1 A T 8: 27,664,420 (GRCm39) V65E probably damaging Het
Ros1 T C 10: 52,019,473 (GRCm39) N700S possibly damaging Het
Slc15a4 G A 5: 127,673,773 (GRCm39) T547M probably damaging Het
Slfn3 T A 11: 83,103,932 (GRCm39) C268S probably benign Het
Smc5 T C 19: 23,205,554 (GRCm39) Q794R probably benign Het
Sqor A G 2: 122,651,206 (GRCm39) Y434C probably damaging Het
Steap4 T A 5: 8,028,502 (GRCm39) L360H probably damaging Het
Sycp1 A G 3: 102,806,203 (GRCm39) V496A probably benign Het
Tmem161b T G 13: 84,420,383 (GRCm39) M128R probably benign Het
Tmem59l T C 8: 70,938,775 (GRCm39) E102G probably damaging Het
Tnks A T 8: 35,340,247 (GRCm39) V457D probably benign Het
Tomt A G 7: 101,549,599 (GRCm39) Y230H probably damaging Het
Trim37 A G 11: 87,080,910 (GRCm39) N561D probably damaging Het
V1ra8 T A 6: 90,180,295 (GRCm39) I166K probably damaging Het
Vmn1r56 A G 7: 5,199,575 (GRCm39) V14A probably benign Het
Vsig8 T C 1: 172,387,925 (GRCm39) V5A possibly damaging Het
Vwa8 A T 14: 79,184,653 (GRCm39) S384C possibly damaging Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Zfp984 T C 4: 147,840,381 (GRCm39) N157D probably benign Het
Zzef1 G A 11: 72,765,816 (GRCm39) D1448N probably benign Het
Other mutations in Flacc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01521:Flacc1 APN 1 58,709,553 (GRCm39) missense probably damaging 0.98
IGL02549:Flacc1 APN 1 58,698,441 (GRCm39) missense probably benign 0.05
IGL02647:Flacc1 APN 1 58,709,613 (GRCm39) missense probably benign
IGL03098:Flacc1 UTSW 1 58,730,908 (GRCm39) missense probably benign 0.06
PIT4504001:Flacc1 UTSW 1 58,698,258 (GRCm39) missense probably benign 0.20
R1147:Flacc1 UTSW 1 58,708,622 (GRCm39) missense probably damaging 0.99
R1147:Flacc1 UTSW 1 58,708,622 (GRCm39) missense probably damaging 0.99
R1959:Flacc1 UTSW 1 58,698,437 (GRCm39) missense possibly damaging 0.92
R1960:Flacc1 UTSW 1 58,698,437 (GRCm39) missense possibly damaging 0.92
R3815:Flacc1 UTSW 1 58,698,164 (GRCm39) missense probably damaging 0.98
R4445:Flacc1 UTSW 1 58,706,080 (GRCm39) missense possibly damaging 0.83
R4617:Flacc1 UTSW 1 58,700,601 (GRCm39) missense probably benign 0.19
R4720:Flacc1 UTSW 1 58,717,507 (GRCm39) missense possibly damaging 0.46
R4816:Flacc1 UTSW 1 58,709,567 (GRCm39) missense probably benign 0.10
R4947:Flacc1 UTSW 1 58,715,698 (GRCm39) missense probably benign 0.05
R4960:Flacc1 UTSW 1 58,706,965 (GRCm39) missense probably damaging 0.98
R4970:Flacc1 UTSW 1 58,698,441 (GRCm39) missense probably benign 0.05
R5018:Flacc1 UTSW 1 58,730,109 (GRCm39) missense probably benign
R5112:Flacc1 UTSW 1 58,698,441 (GRCm39) missense probably benign 0.05
R5269:Flacc1 UTSW 1 58,730,919 (GRCm39) missense possibly damaging 0.83
R5426:Flacc1 UTSW 1 58,706,045 (GRCm39) nonsense probably null
R5541:Flacc1 UTSW 1 58,697,588 (GRCm39) missense probably benign 0.03
R5845:Flacc1 UTSW 1 58,706,937 (GRCm39) missense possibly damaging 0.46
R5863:Flacc1 UTSW 1 58,730,908 (GRCm39) missense probably benign 0.06
R6364:Flacc1 UTSW 1 58,697,531 (GRCm39) missense probably damaging 0.96
R6430:Flacc1 UTSW 1 58,717,448 (GRCm39) missense probably damaging 0.98
R6573:Flacc1 UTSW 1 58,706,003 (GRCm39) missense probably benign 0.27
R7367:Flacc1 UTSW 1 58,706,023 (GRCm39) missense probably benign 0.07
R7459:Flacc1 UTSW 1 58,730,911 (GRCm39) missense possibly damaging 0.46
R7497:Flacc1 UTSW 1 58,717,467 (GRCm39) missense probably damaging 1.00
R8317:Flacc1 UTSW 1 58,715,707 (GRCm39) missense possibly damaging 0.94
R8925:Flacc1 UTSW 1 58,706,882 (GRCm39) splice site probably null
R9542:Flacc1 UTSW 1 58,717,504 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- TGGTGGCAAGCTCTCTACTG -3'
(R):5'- TGCTTTCCTGTCAAGTAGCAACC -3'

Sequencing Primer
(F):5'- CAAGCTCTCTACTGGGAAGTC -3'
(R):5'- TTCCTGTCAAGTAGCAACCATAAGG -3'
Posted On 2018-06-06