Incidental Mutation 'R1491:Fmn1'
ID 163707
Institutional Source Beutler Lab
Gene Symbol Fmn1
Ensembl Gene ENSMUSG00000044042
Gene Name formin 1
Synonyms formin-1, Fmn
MMRRC Submission 039543-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.292) question?
Stock # R1491 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 113158081-113547112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113426714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 1144 (Y1144H)
Ref Sequence ENSEMBL: ENSMUSP00000125052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081349] [ENSMUST00000099576] [ENSMUST00000102547] [ENSMUST00000161731]
AlphaFold Q05860
Predicted Effect probably damaging
Transcript: ENSMUST00000081349
AA Change: Y1016H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080093
Gene: ENSMUSG00000044042
AA Change: Y1016H

DomainStartEndE-ValueType
Blast:FH2 25 641 N/A BLAST
SCOP:d1jvr__ 668 699 2e-3 SMART
FH2 757 1162 1.16e-137 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000099576
AA Change: Y1242H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097171
Gene: ENSMUSG00000044042
AA Change: Y1242H

DomainStartEndE-ValueType
low complexity region 159 173 N/A INTRINSIC
Blast:FH2 352 861 N/A BLAST
SCOP:d1jvr__ 894 925 2e-3 SMART
FH2 983 1388 1.16e-137 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102547
AA Change: Y1242H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099606
Gene: ENSMUSG00000044042
AA Change: Y1242H

DomainStartEndE-ValueType
low complexity region 159 173 N/A INTRINSIC
Blast:FH2 352 861 N/A BLAST
SCOP:d1jvr__ 894 925 2e-3 SMART
FH2 983 1424 1.03e-134 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000161731
AA Change: Y1144H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125052
Gene: ENSMUSG00000044042
AA Change: Y1144H

DomainStartEndE-ValueType
low complexity region 159 173 N/A INTRINSIC
Blast:FH2 352 619 1e-62 BLAST
Blast:FH2 625 765 3e-53 BLAST
SCOP:d1jvr__ 796 827 2e-3 SMART
FH2 885 1290 1.16e-137 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185668
AA Change: Y1091H
Meta Mutation Damage Score 0.4476 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 90.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the formin homology family and encodes a protein that has a role in the formation of adherens junction and the polymerization of linear actin cables. The homologous gene in mouse is associated with limb deformity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for spontaneous, irradiation-induced, and transgene-insertional mutations show severe syndactyly and oligodactyly of the feet, abnormal long bones (including radius-ulna fusions), and reduced or absent kidneys. Many mutants survive and breed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730018C14Rik T A 12: 112,381,489 (GRCm39) noncoding transcript Het
Acss3 A G 10: 106,773,169 (GRCm39) S606P probably benign Het
Adamts13 C T 2: 26,868,327 (GRCm39) T146M probably damaging Het
Adora2b G A 11: 62,156,363 (GRCm39) V271M probably benign Het
Agpat5 A G 8: 18,896,739 (GRCm39) Y55C probably damaging Het
AI987944 A C 7: 41,023,772 (GRCm39) Y402* probably null Het
Angptl4 C T 17: 34,000,165 (GRCm39) A68T possibly damaging Het
Ankmy1 T C 1: 92,814,531 (GRCm39) I325M probably benign Het
Arfgap2 A G 2: 91,105,204 (GRCm39) K423E probably damaging Het
Arfgef3 A T 10: 18,522,302 (GRCm39) S575T probably damaging Het
Arhgap24 A G 5: 103,008,198 (GRCm39) I40V possibly damaging Het
Arhgef7 T C 8: 11,869,733 (GRCm39) probably null Het
Arid1a C A 4: 133,448,237 (GRCm39) S477I unknown Het
Armc7 T C 11: 115,367,029 (GRCm39) V58A probably damaging Het
Arrdc5 A T 17: 56,601,222 (GRCm39) I301N probably damaging Het
Capn15 G A 17: 26,183,453 (GRCm39) P343S probably damaging Het
Catspere2 C T 1: 177,843,495 (GRCm39) T69I possibly damaging Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Cgn C T 3: 94,670,535 (GRCm39) R1002Q probably damaging Het
Clstn3 A T 6: 124,414,449 (GRCm39) I759N possibly damaging Het
Cops5 A G 1: 10,104,243 (GRCm39) V166A possibly damaging Het
Cramp1 G T 17: 25,191,323 (GRCm39) T1046K probably benign Het
Cthrc1 T G 15: 38,950,072 (GRCm39) V143G probably damaging Het
Cul9 G A 17: 46,849,490 (GRCm39) Q552* probably null Het
Cyp27b1 A T 10: 126,886,957 (GRCm39) D391V probably damaging Het
Dcun1d2 A G 8: 13,331,040 (GRCm39) L30S probably damaging Het
Dsc3 T C 18: 20,120,091 (GRCm39) E189G probably damaging Het
Dst T G 1: 34,193,675 (GRCm39) S295A probably damaging Het
Dusp22 A G 13: 30,892,798 (GRCm39) T192A probably benign Het
Esp24 A T 17: 39,349,176 (GRCm39) M1L probably null Het
Evc2 G A 5: 37,550,541 (GRCm39) probably null Het
Fgd6 A G 10: 93,880,694 (GRCm39) N516S probably benign Het
Fut8 T A 12: 77,495,448 (GRCm39) I346K possibly damaging Het
Gata3 A C 2: 9,882,201 (GRCm39) V32G probably damaging Het
Glrb A T 3: 80,819,282 (GRCm39) C39S possibly damaging Het
Gpr171 A G 3: 59,005,016 (GRCm39) V253A probably benign Het
Hdac5 A G 11: 102,092,079 (GRCm39) V670A probably benign Het
Hmgxb3 T C 18: 61,266,980 (GRCm39) S1085G probably benign Het
Hspa4l A G 3: 40,741,226 (GRCm39) N746S probably benign Het
Hyal5 A G 6: 24,877,902 (GRCm39) T333A probably benign Het
Ippk T C 13: 49,615,069 (GRCm39) V484A probably benign Het
Jmjd8 A T 17: 26,048,266 (GRCm39) T33S possibly damaging Het
Kctd19 T A 8: 106,113,694 (GRCm39) I660L possibly damaging Het
Lrat A G 3: 82,810,649 (GRCm39) V124A probably benign Het
Madcam1 A G 10: 79,502,358 (GRCm39) I281V probably benign Het
Mast2 T A 4: 116,173,688 (GRCm39) I455F possibly damaging Het
Mroh7 A G 4: 106,560,255 (GRCm39) L683P probably benign Het
Myo15b C A 11: 115,777,683 (GRCm39) probably null Het
Ncam1 T C 9: 49,416,849 (GRCm39) E814G probably benign Het
Ncoa3 A G 2: 165,897,182 (GRCm39) T658A probably benign Het
Or13a20 T G 7: 140,232,650 (GRCm39) Y253D probably damaging Het
Or9a2 T C 6: 41,748,456 (GRCm39) Y259C possibly damaging Het
P2ry13 T C 3: 59,116,939 (GRCm39) K280E probably damaging Het
Paqr8 C A 1: 21,005,048 (GRCm39) F67L probably benign Het
Pfkfb3 G T 2: 11,498,747 (GRCm39) R37S probably damaging Het
Phf14 A G 6: 11,941,478 (GRCm39) D310G possibly damaging Het
Phkb A G 8: 86,602,286 (GRCm39) S26G possibly damaging Het
Pkd1l2 T A 8: 117,755,147 (GRCm39) I1684F probably damaging Het
Plod2 T C 9: 92,488,637 (GRCm39) V621A probably benign Het
Plvap T C 8: 71,964,116 (GRCm39) N82S probably damaging Het
Pomgnt2 A G 9: 121,811,326 (GRCm39) V485A probably damaging Het
Psmd9 A G 5: 123,366,410 (GRCm39) E14G probably benign Het
Pwwp2b A G 7: 138,835,879 (GRCm39) E440G probably damaging Het
Rasgrp1 G A 2: 117,113,100 (GRCm39) Q771* probably null Het
Rft1 C T 14: 30,388,744 (GRCm39) Q223* probably null Het
Rgs22 C A 15: 36,093,047 (GRCm39) V409F probably damaging Het
Rgsl1 G A 1: 153,701,672 (GRCm39) P261S possibly damaging Het
Rpl7a A G 2: 26,801,127 (GRCm39) N38S probably damaging Het
Sh3rf2 T A 18: 42,187,004 (GRCm39) F41Y probably damaging Het
Spata6 T A 4: 111,603,388 (GRCm39) S34R probably damaging Het
Sult2a3 A T 7: 13,856,867 (GRCm39) Y18N probably benign Het
Tapt1 A G 5: 44,375,444 (GRCm39) probably null Het
Tex2 A T 11: 106,394,466 (GRCm39) C615S possibly damaging Het
Trim43b T C 9: 88,969,665 (GRCm39) K261R possibly damaging Het
Unc5c T A 3: 141,495,583 (GRCm39) M484K probably damaging Het
Vezf1 T A 11: 87,964,573 (GRCm39) S242T probably damaging Het
Vmn2r1 A G 3: 63,997,034 (GRCm39) Y230C probably damaging Het
Vmn2r94 A G 17: 18,477,965 (GRCm39) S149P probably damaging Het
Wfdc1 T A 8: 120,393,405 (GRCm39) probably null Het
Zfp975 T C 7: 42,312,236 (GRCm39) T126A probably benign Het
Zmym4 T C 4: 126,776,105 (GRCm39) probably null Het
Other mutations in Fmn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Fmn1 APN 2 113,274,812 (GRCm39) intron probably benign
IGL01520:Fmn1 APN 2 113,274,713 (GRCm39) intron probably benign
IGL02039:Fmn1 APN 2 113,195,425 (GRCm39) missense unknown
IGL02222:Fmn1 APN 2 113,423,454 (GRCm39) missense probably damaging 1.00
IGL02238:Fmn1 APN 2 113,412,470 (GRCm39) missense possibly damaging 0.90
IGL02373:Fmn1 APN 2 113,194,471 (GRCm39) missense unknown
IGL02490:Fmn1 APN 2 113,359,817 (GRCm39) splice site probably benign
IGL02506:Fmn1 APN 2 113,355,640 (GRCm39) missense unknown
IGL02684:Fmn1 APN 2 113,355,622 (GRCm39) missense unknown
IGL03008:Fmn1 APN 2 113,195,445 (GRCm39) missense unknown
IGL03058:Fmn1 APN 2 113,272,159 (GRCm39) intron probably benign
IGL03076:Fmn1 APN 2 113,414,437 (GRCm39) missense probably damaging 0.99
FR4304:Fmn1 UTSW 2 113,356,128 (GRCm39) small insertion probably benign
FR4304:Fmn1 UTSW 2 113,356,119 (GRCm39) small insertion probably benign
FR4342:Fmn1 UTSW 2 113,356,128 (GRCm39) small insertion probably benign
FR4589:Fmn1 UTSW 2 113,356,119 (GRCm39) small insertion probably benign
FR4589:Fmn1 UTSW 2 113,356,118 (GRCm39) small insertion probably benign
FR4737:Fmn1 UTSW 2 113,356,129 (GRCm39) small insertion probably benign
FR4737:Fmn1 UTSW 2 113,356,126 (GRCm39) small insertion probably benign
FR4737:Fmn1 UTSW 2 113,356,123 (GRCm39) small insertion probably benign
R0349:Fmn1 UTSW 2 113,196,141 (GRCm39) missense unknown
R0452:Fmn1 UTSW 2 113,467,124 (GRCm39) missense possibly damaging 0.46
R0529:Fmn1 UTSW 2 113,538,198 (GRCm39) splice site probably benign
R1215:Fmn1 UTSW 2 113,523,375 (GRCm39) nonsense probably null
R1471:Fmn1 UTSW 2 113,523,439 (GRCm39) missense possibly damaging 0.95
R1489:Fmn1 UTSW 2 113,195,557 (GRCm39) missense unknown
R1551:Fmn1 UTSW 2 113,356,207 (GRCm39) missense possibly damaging 0.70
R1558:Fmn1 UTSW 2 113,523,463 (GRCm39) missense possibly damaging 0.46
R1588:Fmn1 UTSW 2 113,196,043 (GRCm39) missense unknown
R1602:Fmn1 UTSW 2 113,355,968 (GRCm39) missense unknown
R1690:Fmn1 UTSW 2 113,355,827 (GRCm39) missense unknown
R1772:Fmn1 UTSW 2 113,195,700 (GRCm39) missense unknown
R1867:Fmn1 UTSW 2 113,539,783 (GRCm39) missense probably damaging 1.00
R1923:Fmn1 UTSW 2 113,260,066 (GRCm39) intron probably benign
R1941:Fmn1 UTSW 2 113,195,488 (GRCm39) missense unknown
R2019:Fmn1 UTSW 2 113,194,825 (GRCm39) missense unknown
R2140:Fmn1 UTSW 2 113,425,393 (GRCm39) missense probably benign 0.45
R2164:Fmn1 UTSW 2 113,195,962 (GRCm39) missense unknown
R2395:Fmn1 UTSW 2 113,195,526 (GRCm39) missense unknown
R2999:Fmn1 UTSW 2 113,195,439 (GRCm39) missense unknown
R3405:Fmn1 UTSW 2 113,194,693 (GRCm39) missense unknown
R3407:Fmn1 UTSW 2 113,195,400 (GRCm39) missense unknown
R3771:Fmn1 UTSW 2 113,412,463 (GRCm39) missense probably damaging 1.00
R3772:Fmn1 UTSW 2 113,412,463 (GRCm39) missense probably damaging 1.00
R3773:Fmn1 UTSW 2 113,412,463 (GRCm39) missense probably damaging 1.00
R3777:Fmn1 UTSW 2 113,195,467 (GRCm39) missense unknown
R4166:Fmn1 UTSW 2 113,467,080 (GRCm39) missense probably benign 0.33
R4477:Fmn1 UTSW 2 113,274,744 (GRCm39) intron probably benign
R4614:Fmn1 UTSW 2 113,195,494 (GRCm39) missense unknown
R4701:Fmn1 UTSW 2 113,414,416 (GRCm39) missense possibly damaging 0.76
R4867:Fmn1 UTSW 2 113,414,465 (GRCm39) critical splice donor site probably null
R5063:Fmn1 UTSW 2 113,195,266 (GRCm39) missense unknown
R5224:Fmn1 UTSW 2 113,195,470 (GRCm39) missense unknown
R5510:Fmn1 UTSW 2 113,426,714 (GRCm39) missense probably damaging 1.00
R6083:Fmn1 UTSW 2 113,194,648 (GRCm39) missense unknown
R6234:Fmn1 UTSW 2 113,196,000 (GRCm39) missense unknown
R6266:Fmn1 UTSW 2 113,426,683 (GRCm39) missense probably damaging 1.00
R6764:Fmn1 UTSW 2 113,355,560 (GRCm39) missense unknown
R7054:Fmn1 UTSW 2 113,195,353 (GRCm39) missense unknown
R7311:Fmn1 UTSW 2 113,356,025 (GRCm39) missense unknown
R7439:Fmn1 UTSW 2 113,271,956 (GRCm39) missense unknown
R7440:Fmn1 UTSW 2 113,271,956 (GRCm39) missense unknown
R7441:Fmn1 UTSW 2 113,271,956 (GRCm39) missense unknown
R7444:Fmn1 UTSW 2 113,271,956 (GRCm39) missense unknown
R7461:Fmn1 UTSW 2 113,194,416 (GRCm39) missense unknown
R7526:Fmn1 UTSW 2 113,518,479 (GRCm39) missense probably damaging 0.99
R7540:Fmn1 UTSW 2 113,359,655 (GRCm39) splice site probably null
R7576:Fmn1 UTSW 2 113,195,353 (GRCm39) missense unknown
R7657:Fmn1 UTSW 2 113,355,538 (GRCm39) missense unknown
R7669:Fmn1 UTSW 2 113,195,822 (GRCm39) missense unknown
R7713:Fmn1 UTSW 2 113,356,159 (GRCm39) missense unknown
R7841:Fmn1 UTSW 2 113,359,810 (GRCm39) critical splice donor site probably null
R7953:Fmn1 UTSW 2 113,426,689 (GRCm39) missense probably benign 0.03
R7959:Fmn1 UTSW 2 113,195,967 (GRCm39) missense unknown
R8041:Fmn1 UTSW 2 113,194,939 (GRCm39) missense unknown
R8152:Fmn1 UTSW 2 113,196,037 (GRCm39) missense unknown
R8203:Fmn1 UTSW 2 113,355,620 (GRCm39) missense unknown
R8318:Fmn1 UTSW 2 113,195,502 (GRCm39) missense unknown
R8356:Fmn1 UTSW 2 113,195,385 (GRCm39) missense unknown
R8456:Fmn1 UTSW 2 113,195,385 (GRCm39) missense unknown
R8698:Fmn1 UTSW 2 113,260,152 (GRCm39) missense unknown
R8861:Fmn1 UTSW 2 113,195,149 (GRCm39) missense unknown
R8907:Fmn1 UTSW 2 113,355,914 (GRCm39) missense unknown
R9147:Fmn1 UTSW 2 113,271,973 (GRCm39) missense unknown
R9148:Fmn1 UTSW 2 113,271,973 (GRCm39) missense unknown
R9536:Fmn1 UTSW 2 113,309,262 (GRCm39) missense unknown
R9574:Fmn1 UTSW 2 113,425,402 (GRCm39) missense probably damaging 1.00
R9577:Fmn1 UTSW 2 113,194,470 (GRCm39) missense unknown
RF003:Fmn1 UTSW 2 113,356,131 (GRCm39) small insertion probably benign
Z1088:Fmn1 UTSW 2 113,272,270 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- TTCACGCCATTAAGAGCACACATTTTC -3'
(R):5'- AAGGTAGCTTGATATGCAGCAGCC -3'

Sequencing Primer
(F):5'- gtttgcttgcttgcctatttg -3'
(R):5'- AGGGTCTTTCAGACATTTCCTC -3'
Posted On 2014-03-28