Incidental Mutation 'IGL03337:Firrm'
ID 417073
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03337
Quality Score
Status
Chromosome 1
Chromosomal Location 163773562-163822365 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 163818328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 38 (S38P)
Ref Sequence ENSEMBL: ENSMUSP00000095101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045694] [ENSMUST00000045876] [ENSMUST00000097493] [ENSMUST00000111490] [ENSMUST00000160926]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000045694
SMART Domains Protein: ENSMUSP00000048636
Gene: ENSMUSG00000041396

DomainStartEndE-ValueType
Pfam:Methyltransf_16 150 233 7.3e-7 PFAM
Pfam:PrmA 166 240 2.1e-7 PFAM
low complexity region 300 313 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000045876
AA Change: S38P

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000043143
Gene: ENSMUSG00000041406
AA Change: S38P

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: S38P

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095101
Gene: ENSMUSG00000041406
AA Change: S38P

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: ENSMUST00000111490
SMART Domains Protein: ENSMUSP00000107116
Gene: ENSMUSG00000041396

DomainStartEndE-ValueType
Pfam:MTS 147 232 4.5e-6 PFAM
Pfam:Methyltransf_16 149 233 3.6e-7 PFAM
Pfam:PrmA 166 238 2.7e-7 PFAM
low complexity region 300 313 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000160926
AA Change: S38P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124826
Gene: ENSMUSG00000041406
AA Change: S38P

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162949
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A G 7: 119,995,930 (GRCm39) I1356V probably benign Het
Akr1b8 T C 6: 34,331,209 (GRCm39) I15T probably benign Het
Arrdc3 G A 13: 81,038,766 (GRCm39) V23I probably benign Het
Bmp6 G A 13: 38,682,919 (GRCm39) V470I probably damaging Het
Cltc A T 11: 86,594,509 (GRCm39) I1476N possibly damaging Het
Dclk2 A C 3: 86,813,366 (GRCm39) I193M probably damaging Het
Dnah5 A G 15: 28,290,287 (GRCm39) M1226V probably benign Het
Gm6455 A G 5: 10,917,251 (GRCm39) noncoding transcript Het
Igkv4-62 A T 6: 69,376,946 (GRCm39) W68R probably damaging Het
Lbr C T 1: 181,659,788 (GRCm39) G136R possibly damaging Het
Ldhb C T 6: 142,439,882 (GRCm39) M219I probably benign Het
Lysmd2 A G 9: 75,542,945 (GRCm39) D184G probably damaging Het
Nrxn3 T A 12: 89,221,790 (GRCm39) M150K probably damaging Het
Pdss2 T C 10: 43,221,589 (GRCm39) V167A probably damaging Het
Scn7a A T 2: 66,506,304 (GRCm39) D1528E probably benign Het
Thsd7a C T 6: 12,405,173 (GRCm39) C757Y probably damaging Het
Tmem213 T C 6: 38,086,478 (GRCm39) probably null Het
Trip11 A G 12: 101,851,278 (GRCm39) S929P probably damaging Het
Utp20 T A 10: 88,590,428 (GRCm39) M2349L probably benign Het
Vmn2r58 T A 7: 41,513,810 (GRCm39) I278F possibly damaging Het
Vmn2r61 A G 7: 41,916,509 (GRCm39) N374S possibly damaging Het
Vps8 A G 16: 21,381,918 (GRCm39) T1089A 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
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
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
Posted On 2016-08-02