Incidental Mutation 'IGL03048:Firrm'
ID 391797
Institutional Source Beutler Lab
Gene Symbol Firrm
Ensembl Gene ENSMUSG00000041406
Gene Name FIGNL1 interacting regulator of recombination and mitosis
Synonyms BC055324
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03048 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 163773562-163822365 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 163792094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 608 (A608V)
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 benign
Transcript: ENSMUST00000045876
AA Change: A608V

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000043143
Gene: ENSMUSG00000041406
AA Change: A608V

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 benign
Transcript: ENSMUST00000097493
AA Change: A608V

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000095101
Gene: ENSMUSG00000041406
AA Change: A608V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161321
Meta Mutation Damage Score 0.0758 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 T C 2: 26,868,711 (GRCm39) probably null Het
Anapc4 C T 5: 52,997,075 (GRCm39) T116I probably benign Het
Arhgap45 C T 10: 79,852,851 (GRCm39) R14C probably damaging Het
Bysl T C 17: 47,913,560 (GRCm39) probably null Het
Ccdc166 T A 15: 75,854,050 (GRCm39) N10I possibly damaging Het
Chd1l T C 3: 97,505,079 (GRCm39) S163G probably benign Het
Col6a3 A G 1: 90,737,970 (GRCm39) V576A possibly damaging Het
Cpped1 T C 16: 11,646,339 (GRCm39) T162A probably benign Het
Dcbld1 A T 10: 52,180,722 (GRCm39) I200F probably damaging Het
Dock6 T C 9: 21,720,866 (GRCm39) E1713G probably damaging Het
Eif4a3l1 A T 6: 136,306,198 (GRCm39) T220S probably damaging Het
Evx1 T C 6: 52,292,739 (GRCm39) L130P probably benign Het
Fam168a A G 7: 100,484,545 (GRCm39) T228A probably damaging Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Foxp4 A T 17: 48,191,765 (GRCm39) M124K unknown Het
Gabrr3 A G 16: 59,250,493 (GRCm39) H164R probably benign Het
Gapdhrt T A 14: 11,281,873 (GRCm38) I21F probably benign Het
Greb1 C T 12: 16,783,332 (GRCm39) C134Y probably damaging Het
Hddc2 G A 10: 31,192,332 (GRCm39) V79I possibly damaging Het
Lbr T C 1: 181,666,109 (GRCm39) probably benign Het
Mamdc4 C T 2: 25,459,084 (GRCm39) R229K possibly damaging Het
Mtor T C 4: 148,630,847 (GRCm39) probably benign Het
Ncoa1 T C 12: 4,317,922 (GRCm39) R1137G probably damaging Het
Nlrp4d T C 7: 10,092,881 (GRCm39) noncoding transcript Het
Oasl1 T A 5: 115,075,400 (GRCm39) S487T possibly damaging Het
Oprm1 T C 10: 6,779,064 (GRCm39) I91T probably damaging Het
Or11j4 G T 14: 50,630,245 (GRCm39) V11L possibly damaging Het
Or1e26 G C 11: 73,479,831 (GRCm39) H244Q possibly damaging Het
Or8g33 A G 9: 39,338,065 (GRCm39) F101L probably benign Het
Pdzk1ip1 T A 4: 114,950,181 (GRCm39) D147E probably benign Het
Per1 A G 11: 68,995,552 (GRCm39) K711E probably damaging Het
Rab3gap1 A G 1: 127,865,214 (GRCm39) N734S probably damaging Het
Rapgefl1 T C 11: 98,727,990 (GRCm39) L4P possibly damaging Het
Sgk2 A G 2: 162,837,680 (GRCm39) Y101C probably damaging Het
Tmem129 A G 5: 33,812,811 (GRCm39) V179A possibly damaging Het
Ttn T C 2: 76,719,259 (GRCm39) probably benign Het
Ttyh2 T A 11: 114,587,521 (GRCm39) M174K probably benign Het
Vmn2r13 G A 5: 109,304,151 (GRCm39) A760V probably damaging Het
Vmn2r82 A T 10: 79,232,460 (GRCm39) I820F probably damaging Het
Zswim4 T C 8: 84,938,604 (GRCm39) M1093V possibly damaging 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
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
R6851:Firrm UTSW 1 163,792,336 (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'- TCATCCAGACAGATGCGAGC -3'
(R):5'- GCAAGGACATCGTCTGTGTC -3'

Sequencing Primer
(F):5'- TTTCCAAACATATCTTACCCAATCG -3'
(R):5'- GTTCAGTCATCCATTAGTCTGAAG -3'
Posted On 2016-06-07