Incidental Mutation 'R6851:Firrm'
ID 534953
Institutional Source Beutler Lab
Gene Symbol Firrm
Ensembl Gene ENSMUSG00000041406
Gene Name FIGNL1 interacting regulator of recombination and mitosis
Synonyms BC055324
MMRRC Submission 044955-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6851 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 163773562-163822365 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 163792336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 554 (R554C)
Ref Sequence ENSEMBL: ENSMUSP00000095101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045876] [ENSMUST00000097493] [ENSMUST00000159617]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000045876
AA Change: R554C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043143
Gene: ENSMUSG00000041406
AA Change: R554C

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
Pfam:DUF4487 233 779 2.3e-209 PFAM
low complexity region 877 889 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000097493
AA Change: R554C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095101
Gene: ENSMUSG00000041406
AA Change: R554C

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
Pfam:DUF4487 233 779 1.3e-186 PFAM
low complexity region 877 889 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159617
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,623,345 (GRCm39) C856S probably benign Het
Arrdc2 T C 8: 71,291,369 (GRCm39) E153G probably damaging Het
Cacna1d T C 14: 29,764,739 (GRCm39) D2033G probably damaging Het
Cacna1s G A 1: 136,020,432 (GRCm39) R823Q probably benign Het
Cracr2a A T 6: 127,585,679 (GRCm39) D159V probably damaging Het
Defa35 T C 8: 21,555,146 (GRCm39) I22T possibly damaging Het
Dgke T C 11: 88,943,309 (GRCm39) T227A probably benign Het
Efcab3 G A 11: 104,896,521 (GRCm39) R4290K probably benign Het
Galnt10 G A 11: 57,656,458 (GRCm39) R214Q probably damaging Het
Gpr180 T C 14: 118,391,037 (GRCm39) Y189H probably damaging Het
Hadh A G 3: 131,065,620 (GRCm39) S13P possibly damaging Het
Hcn2 T A 10: 79,564,947 (GRCm39) probably null Het
Irgm2 T C 11: 58,110,641 (GRCm39) S123P possibly damaging Het
Kcnv1 T A 15: 44,972,594 (GRCm39) I430F probably damaging Het
Kif13b G A 14: 65,010,514 (GRCm39) C1271Y probably damaging Het
Klhdc3 A T 17: 46,989,218 (GRCm39) I48N possibly damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Mprip T A 11: 59,649,841 (GRCm39) W1182R probably damaging Het
Mycbp2 A T 14: 103,497,630 (GRCm39) probably null Het
Or12e1 T A 2: 87,022,813 (GRCm39) S261T probably benign Het
Or1j11 T A 2: 36,311,832 (GRCm39) C141S probably damaging Het
Or8b51 A G 9: 38,569,481 (GRCm39) V69A probably benign Het
Or8h9 T C 2: 86,789,611 (GRCm39) T64A possibly damaging Het
Or9m1b T A 2: 87,836,300 (GRCm39) H265L probably damaging Het
Osbpl8 T A 10: 111,106,479 (GRCm39) Y295* probably null Het
Pex5 A G 6: 124,380,113 (GRCm39) S275P possibly damaging Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Sele G T 1: 163,881,521 (GRCm39) G543C probably damaging Het
Serpina3k A C 12: 104,311,625 (GRCm39) Y401S probably benign Het
Slc13a4 A G 6: 35,278,668 (GRCm39) S74P probably damaging Het
Spata31d1a A G 13: 59,851,725 (GRCm39) L114P unknown Het
Syne1 G T 10: 5,212,703 (GRCm39) C3295* probably null Het
Tepsin G T 11: 119,987,787 (GRCm39) H44N probably damaging Het
Tpp1 A T 7: 105,398,919 (GRCm39) V170E probably damaging Het
Trav3-1 T C 14: 52,818,428 (GRCm39) V34A probably damaging Het
Tsbp1 A T 17: 34,679,146 (GRCm39) Y303F possibly damaging Het
Ush2a T C 1: 188,265,402 (GRCm39) V1642A probably benign Het
Vmn1r122 A G 7: 20,867,845 (GRCm39) I70T probably benign Het
Vmn2r96 A G 17: 18,802,800 (GRCm39) M237V possibly damaging Het
Wdr75 A G 1: 45,862,587 (GRCm39) E802G probably benign Het
Zan G A 5: 137,394,453 (GRCm39) T4462I unknown Het
Other mutations in Firrm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02051:Firrm APN 1 163,785,091 (GRCm39) missense probably benign 0.01
IGL02638:Firrm APN 1 163,786,868 (GRCm39) nonsense probably null
IGL03337:Firrm APN 1 163,818,328 (GRCm39) missense probably damaging 0.96
IGL03048:Firrm UTSW 1 163,792,094 (GRCm39) missense probably benign 0.04
R0106:Firrm UTSW 1 163,810,380 (GRCm39) unclassified probably benign
R0106:Firrm UTSW 1 163,810,380 (GRCm39) unclassified probably benign
R0414:Firrm UTSW 1 163,795,890 (GRCm39) missense probably benign 0.02
R0511:Firrm UTSW 1 163,799,412 (GRCm39) splice site probably null
R1323:Firrm UTSW 1 163,783,030 (GRCm39) unclassified probably benign
R1870:Firrm UTSW 1 163,792,363 (GRCm39) missense probably damaging 1.00
R2129:Firrm UTSW 1 163,794,026 (GRCm39) missense probably damaging 1.00
R3716:Firrm UTSW 1 163,784,457 (GRCm39) missense probably damaging 1.00
R3783:Firrm UTSW 1 163,815,252 (GRCm39) missense probably benign 0.27
R3872:Firrm UTSW 1 163,814,533 (GRCm39) missense probably damaging 0.99
R4427:Firrm UTSW 1 163,781,853 (GRCm39) missense probably benign
R5069:Firrm UTSW 1 163,815,243 (GRCm39) missense possibly damaging 0.59
R5620:Firrm UTSW 1 163,789,613 (GRCm39) nonsense probably null
R5681:Firrm UTSW 1 163,789,654 (GRCm39) missense probably damaging 1.00
R5699:Firrm UTSW 1 163,785,120 (GRCm39) missense probably benign 0.26
R5936:Firrm UTSW 1 163,814,581 (GRCm39) missense probably benign 0.00
R6065:Firrm UTSW 1 163,815,257 (GRCm39) missense probably damaging 1.00
R6065:Firrm UTSW 1 163,786,957 (GRCm39) missense probably benign 0.08
R6075:Firrm UTSW 1 163,805,656 (GRCm39) missense probably damaging 1.00
R6466:Firrm UTSW 1 163,781,734 (GRCm39) missense probably benign 0.01
R6701:Firrm UTSW 1 163,799,412 (GRCm39) splice site probably null
R6776:Firrm UTSW 1 163,804,318 (GRCm39) missense probably damaging 1.00
R6923:Firrm UTSW 1 163,814,454 (GRCm39) critical splice donor site probably null
R7125:Firrm UTSW 1 163,789,631 (GRCm39) missense probably benign 0.00
R7361:Firrm UTSW 1 163,813,602 (GRCm39) missense possibly damaging 0.54
R7492:Firrm UTSW 1 163,786,897 (GRCm39) missense probably benign 0.35
R8528:Firrm UTSW 1 163,813,652 (GRCm39) missense probably damaging 1.00
R8755:Firrm UTSW 1 163,786,895 (GRCm39) missense probably damaging 1.00
R8786:Firrm UTSW 1 163,792,040 (GRCm39) missense probably damaging 1.00
R8938:Firrm UTSW 1 163,789,541 (GRCm39) missense probably benign 0.01
R8957:Firrm UTSW 1 163,792,335 (GRCm39) missense probably damaging 1.00
R9023:Firrm UTSW 1 163,818,300 (GRCm39) missense possibly damaging 0.83
R9132:Firrm UTSW 1 163,814,514 (GRCm39) missense probably damaging 0.99
R9159:Firrm UTSW 1 163,814,514 (GRCm39) missense probably damaging 0.99
R9229:Firrm UTSW 1 163,794,659 (GRCm39) missense probably damaging 1.00
R9310:Firrm UTSW 1 163,792,089 (GRCm39) missense probably damaging 1.00
R9455:Firrm UTSW 1 163,781,721 (GRCm39) missense probably benign 0.05
R9463:Firrm UTSW 1 163,795,907 (GRCm39) missense probably benign 0.00
R9597:Firrm UTSW 1 163,804,340 (GRCm39) missense probably null 1.00
R9646:Firrm UTSW 1 163,822,195 (GRCm39) missense probably damaging 0.97
Z1177:Firrm UTSW 1 163,792,086 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATACTGCCACAAATGCAAGTTG -3'
(R):5'- AGTGTTCCTTCTCATTAAAGCAACC -3'

Sequencing Primer
(F):5'- GCCACAAATGCAAGTTGTCTGC -3'
(R):5'- AAGAGTAGCCCTGAGTTAAAATTTC -3'
Posted On 2018-09-12