Incidental Mutation 'R6065:Firrm'
ID 483995
Institutional Source Beutler Lab
Gene Symbol Firrm
Ensembl Gene ENSMUSG00000041406
Gene Name FIGNL1 interacting regulator of recombination and mitosis
Synonyms BC055324
MMRRC Submission 044229-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6065 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 163773562-163822365 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 163815257 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 88 (M88T)
Ref Sequence ENSEMBL: ENSMUSP00000095101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045876] [ENSMUST00000097493] [ENSMUST00000160926]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000045876
AA Change: M88T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000043143
Gene: ENSMUSG00000041406
AA Change: M88T

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: M88T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095101
Gene: ENSMUSG00000041406
AA Change: M88T

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: ENSMUST00000160926
SMART Domains Protein: ENSMUSP00000124826
Gene: ENSMUSG00000041406

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162949
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff1 T C 5: 103,990,118 (GRCm39) S871P probably damaging Het
Ccdc150 T C 1: 54,302,758 (GRCm39) I126T possibly damaging Het
Ccdc87 A T 19: 4,891,268 (GRCm39) M587L probably benign Het
Cd300ld2 G A 11: 114,903,428 (GRCm39) probably benign Het
Chsy3 GT G 18: 59,309,238 (GRCm39) 163 probably null Het
Dchs1 T C 7: 105,404,628 (GRCm39) D2638G probably damaging Het
Dnah5 A T 15: 28,230,614 (GRCm39) I171F possibly damaging Het
Dnah9 T C 11: 65,746,164 (GRCm39) D3983G probably benign Het
Dnah9 A G 11: 66,036,223 (GRCm39) S396P possibly damaging Het
Fbxw15 T A 9: 109,397,246 (GRCm39) D18V probably damaging Het
Fcnb A C 2: 27,969,922 (GRCm39) C106G probably damaging Het
Gm3453 T C 14: 5,978,233 (GRCm38) T57A probably damaging Het
Grin2a T C 16: 9,579,771 (GRCm39) D164G possibly damaging Het
Hmcn1 C T 1: 150,646,081 (GRCm39) V706I probably benign Het
Kcnj12 C T 11: 60,960,703 (GRCm39) L334F probably damaging Het
Lama3 T C 18: 12,602,985 (GRCm39) Y1057H possibly damaging Het
Mycbpap T C 11: 94,399,013 (GRCm39) probably null Het
Myo18b A G 5: 112,840,647 (GRCm39) L2382P probably benign Het
Ngef T A 1: 87,405,370 (GRCm39) N680I probably damaging Het
Nop2 A G 6: 125,121,528 (GRCm39) H770R probably benign Het
Pcdhgc3 A G 18: 37,940,729 (GRCm39) T377A possibly damaging Het
Prl7b1 T C 13: 27,788,529 (GRCm39) K109E probably benign Het
Ptprk C T 10: 28,351,166 (GRCm39) T553I probably damaging Het
Rab3d T C 9: 21,821,815 (GRCm39) T209A probably benign Het
Ralgapa1 A G 12: 55,804,709 (GRCm39) probably null Het
Rspry1 T C 8: 95,349,615 (GRCm39) M1T probably null Het
Sec13 G T 6: 113,707,793 (GRCm39) P176T probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc4a7 C A 14: 14,739,836 (GRCm38) T236K probably benign Het
Svil T G 18: 5,106,724 (GRCm39) V1855G probably damaging Het
Syt2 A G 1: 134,675,295 (GRCm39) N382S probably benign Het
Tm7sf2 A G 19: 6,113,416 (GRCm39) M345T possibly damaging Het
Ubr4 T G 4: 139,148,549 (GRCm39) C1678G probably damaging Het
Urb1 A G 16: 90,600,220 (GRCm39) S188P probably benign Het
Vmn2r82 A G 10: 79,221,210 (GRCm39) S524G probably damaging Het
Wdr19 A G 5: 65,379,056 (GRCm39) N233S probably benign 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 1 163,786,957 (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'- ATGCATGCATGAGGTACCACC -3'
(R):5'- CTTGTATGGCTGAGAAGCACTTAAAG -3'

Posted On 2017-07-14