Mutagenetix > Incidental Mutation

Incidental Mutation 'R4701:Fmn1'

355997

Institutional Source

Beutler Lab

Gene Symbol

Fmn1

Ensembl Gene

ENSMUSG00000044042

Gene Name

formin 1

Synonyms

Fmn, formin-1

MMRRC Submission

041949-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.245) question?

Stock #

R4701 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113327736-113716767 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113584071 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 895 (Y895F)

Ref Sequence

ENSEMBL: ENSMUSP00000080093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081349] [ENSMUST00000099576] [ENSMUST00000102547] [ENSMUST00000161731]

AlphaFold

Q05860

PDB Structure

FBP28WW2 domain in complex with the PPLIPPPP peptide [SOLUTION NMR]
FBP28WW2 domain in complex with PTPPPLPP peptide [SOLUTION NMR]
FBP28WW2 domain in complex with a PPPLIPPPP peptide [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081349
AA Change: Y895F

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000080093
Gene: ENSMUSG00000044042
AA Change: Y895F

Domain	Start	End	E-Value	Type
Blast:FH2	25	641	N/A	BLAST
SCOP:d1jvr__	668	699	2e-3	SMART
FH2	757	1162	1.16e-137	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099576
AA Change: Y1121F

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097171
Gene: ENSMUSG00000044042
AA Change: Y1121F

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000102547
AA Change: Y1121F

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099606
Gene: ENSMUSG00000044042
AA Change: Y1121F

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000161731
AA Change: Y1023F

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125052
Gene: ENSMUSG00000044042
AA Change: Y1023F

Domain	Start	End	E-Value	Type
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: Y970F

Meta Mutation Damage Score

0.0972

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

96% (108/112)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	T	C	11: 101,411,160	I196V	probably benign	Het
Aass	T	A	6: 23,075,856	K761*	probably null	Het
Abca13	A	G	11: 9,292,306	T1390A	possibly damaging	Het
Abhd16a	T	C	17: 35,096,606		probably null	Het
Acad11	C	T	9: 104,095,565	Q486*	probably null	Het
Actl9	T	C	17: 33,433,935	L323P	probably benign	Het
Adam12	T	A	7: 133,916,462	I650F	possibly damaging	Het
Adgre4	A	T	17: 55,784,971	D77V	probably damaging	Het
Ankrd26	A	G	6: 118,506,485	F1586S	possibly damaging	Het
Anpep	T	C	7: 79,839,465	T320A	probably benign	Het
Arl15	T	A	13: 113,967,725	C133S	probably benign	Het
Ascc3	A	G	10: 50,720,664	N1230S	possibly damaging	Het
Atf4	T	A	15: 80,257,417	I336K	probably damaging	Het
Atp7b	A	T	8: 22,000,121	S1044T	probably benign	Het
Atp8b4	A	G	2: 126,414,293	F249L	probably damaging	Het
AU021092	G	T	16: 5,212,193	N319K	probably benign	Het
Bbs4	A	G	9: 59,323,519	V440A	probably benign	Het
Bpifb4	G	T	2: 153,950,385	G450C	probably damaging	Het
Cadm1	G	A	9: 47,818,822		probably benign	Het
Ccser2	G	A	14: 36,938,697	L500F	probably damaging	Het
Cd22	T	A	7: 30,876,153	I155F	probably damaging	Het
Cdkl4	A	T	17: 80,543,652	V207E	probably damaging	Het
Cfap65	T	C	1: 74,918,908	D947G	probably damaging	Het
Cntn6	T	C	6: 104,804,360	V397A	probably benign	Het
Cpox	T	A	16: 58,677,969	Y388*	probably null	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dda1	T	A	8: 71,473,810	Y58N	probably damaging	Het
Dennd4a	C	T	9: 64,897,357	T1326I	possibly damaging	Het
Eps8l2	A	T	7: 141,357,260	I338F	probably damaging	Het
Fbxo42	A	G	4: 141,199,809	T467A	probably benign	Het
Flt4	T	C	11: 49,626,808	F319S	possibly damaging	Het
Gm6887	C	A	7: 42,465,093		noncoding transcript	Het
Grid2	A	G	6: 64,665,915	D887G	probably benign	Het
Grm6	C	T	11: 50,863,010	P714S	probably damaging	Het
Gsto2	A	G	19: 47,884,656	I157V	probably benign	Het
Il15ra	A	G	2: 11,718,345		probably null	Het
Impg1	A	G	9: 80,314,400	F713L	probably benign	Het
Jag1	T	A	2: 137,094,456	T373S	probably benign	Het
Kcnh3	T	A	15: 99,241,945	L904Q	probably benign	Het
Kctd19	C	A	8: 105,390,429	G356V	possibly damaging	Het
Kdm5b	T	A	1: 134,606,012		probably benign	Het
Kif1a	T	C	1: 93,078,835	I37V	probably damaging	Het
Lama5	G	A	2: 180,191,696	R1508C	probably damaging	Het
Lamb1	T	A	12: 31,266,848	C65*	probably null	Het
Lingo1	A	G	9: 56,620,258	F349S	probably damaging	Het
Loxl4	G	A	19: 42,607,613	H147Y	probably benign	Het
Lrrn4cl	T	A	19: 8,852,055	N132K	probably damaging	Het
Med17	A	T	9: 15,270,360	H31Q	probably damaging	Het
Med23	A	T	10: 24,893,648	L476F	probably damaging	Het
Mgst1	A	T	6: 138,150,838	D66V	probably damaging	Het
Mroh2a	T	C	1: 88,234,612		probably null	Het
Mroh2a	A	C	1: 88,241,618	I672L	probably benign	Het
Muc4	A	T	16: 32,755,846		probably benign	Het
Myo18a	C	T	11: 77,817,665	T30M	probably damaging	Het
Ncapg2	G	T	12: 116,440,618	R903L	probably benign	Het
Nme1	A	G	11: 93,965,908	I9T	probably damaging	Het
Nmt2	T	A	2: 3,322,641	I357N	probably benign	Het
Nphp4	T	C	4: 152,496,659	F100S	probably damaging	Het
Oca2	C	A	7: 56,255,002	T72K	probably benign	Het
Olfr1411	C	A	1: 92,597,438	D306E	probably benign	Het
Olfr625-ps1	G	A	7: 103,683,062	V105M	probably damaging	Het
Olfr676	A	T	7: 105,035,591	D131V	probably damaging	Het
Olfr677	A	T	7: 105,056,879	D211V	probably damaging	Het
Olfr871	T	C	9: 20,212,625	I92T	probably damaging	Het
Plce1	A	T	19: 38,725,007	T1240S	probably benign	Het
Plch1	A	T	3: 63,699,496		probably null	Het
Plxna4	T	C	6: 32,516,688	D331G	probably damaging	Het
Ppp1r3a	T	C	6: 14,718,993	T641A	probably benign	Het
Rab32	A	G	10: 10,550,854	L116P	probably benign	Het
Recql4	C	T	15: 76,708,585	C302Y	probably damaging	Het
Rorc	G	C	3: 94,391,710	E391Q	probably null	Het
Saa4	A	T	7: 46,731,627	F24I	possibly damaging	Het
Sall1	T	A	8: 89,031,160	K772M	probably damaging	Het
Sdk1	T	G	5: 142,185,231	L1950V	probably damaging	Het
Sil1	T	C	18: 35,266,896	E352G	probably benign	Het
Slc26a3	C	T	12: 31,447,774	P59L	probably damaging	Het
Smco2	T	C	6: 146,861,942		probably benign	Het
Sppl3	A	G	5: 115,103,313		probably null	Het
St6gal2	T	A	17: 55,496,344	V360D	probably damaging	Het
Stard9	G	A	2: 120,705,713	R345Q	possibly damaging	Het
Susd4	T	A	1: 182,892,061	Y414N	probably damaging	Het
Tenm4	T	C	7: 96,895,349	Y2191H	probably damaging	Het
Tln2	A	G	9: 67,346,527	V754A	probably benign	Het
Tmem132c	T	A	5: 127,564,496		probably benign	Het
Tnn	A	T	1: 160,147,768	S30T	possibly damaging	Het
Trpd52l3	G	T	19: 30,004,495	V217F	probably damaging	Het
Trpm1	G	T	7: 64,243,500	L1033F	probably damaging	Het
Tulp2	A	G	7: 45,517,924	E182G	probably damaging	Het
Ubr4	A	G	4: 139,471,336	K4490R	possibly damaging	Het
Usp17la	A	T	7: 104,860,649	R154*	probably null	Het
Vmn2r17	T	G	5: 109,427,983	M240R	probably damaging	Het
Vmn2r22	T	A	6: 123,650,469	N56I	probably benign	Het
Wdr66	A	G	5: 123,322,613	K1213E	probably benign	Het
Zdhhc21	A	T	4: 82,820,334	I206N	possibly damaging	Het
Zfp148	T	A	16: 33,456,908	D122E	probably benign	Het
Zfp804a	A	T	2: 82,256,582	S252C	probably damaging	Het
Zgrf1	C	T	3: 127,598,704	T1291I	probably benign	Het

Other mutations in Fmn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Fmn1	APN	2	113444467	intron	probably benign
IGL01520:Fmn1	APN	2	113444368	intron	probably benign
IGL02039:Fmn1	APN	2	113365080	missense	unknown
IGL02222:Fmn1	APN	2	113593109	missense	probably damaging	1.00
IGL02238:Fmn1	APN	2	113582125	missense	possibly damaging	0.90
IGL02373:Fmn1	APN	2	113364126	missense	unknown
IGL02490:Fmn1	APN	2	113529472	splice site	probably benign
IGL02506:Fmn1	APN	2	113525295	missense	unknown
IGL02684:Fmn1	APN	2	113525277	missense	unknown
IGL03008:Fmn1	APN	2	113365100	missense	unknown
IGL03058:Fmn1	APN	2	113441814	intron	probably benign
IGL03076:Fmn1	APN	2	113584092	missense	probably damaging	0.99
FR4304:Fmn1	UTSW	2	113525774	small insertion	probably benign
FR4304:Fmn1	UTSW	2	113525783	small insertion	probably benign
FR4342:Fmn1	UTSW	2	113525783	small insertion	probably benign
FR4589:Fmn1	UTSW	2	113525773	small insertion	probably benign
FR4589:Fmn1	UTSW	2	113525774	small insertion	probably benign
FR4737:Fmn1	UTSW	2	113525778	small insertion	probably benign
FR4737:Fmn1	UTSW	2	113525781	small insertion	probably benign
FR4737:Fmn1	UTSW	2	113525784	small insertion	probably benign
R0349:Fmn1	UTSW	2	113365796	missense	unknown
R0452:Fmn1	UTSW	2	113636779	missense	possibly damaging	0.46
R0529:Fmn1	UTSW	2	113707853	splice site	probably benign
R1215:Fmn1	UTSW	2	113693030	nonsense	probably null
R1471:Fmn1	UTSW	2	113693094	missense	possibly damaging	0.95
R1489:Fmn1	UTSW	2	113365212	missense	unknown
R1491:Fmn1	UTSW	2	113596369	missense	probably damaging	1.00
R1551:Fmn1	UTSW	2	113525862	missense	possibly damaging	0.70
R1558:Fmn1	UTSW	2	113693118	missense	possibly damaging	0.46
R1588:Fmn1	UTSW	2	113365698	missense	unknown
R1602:Fmn1	UTSW	2	113525623	missense	unknown
R1690:Fmn1	UTSW	2	113525482	missense	unknown
R1772:Fmn1	UTSW	2	113365355	missense	unknown
R1867:Fmn1	UTSW	2	113709438	missense	probably damaging	1.00
R1923:Fmn1	UTSW	2	113429721	intron	probably benign
R1941:Fmn1	UTSW	2	113365143	missense	unknown
R2019:Fmn1	UTSW	2	113364480	missense	unknown
R2140:Fmn1	UTSW	2	113595048	missense	probably benign	0.45
R2164:Fmn1	UTSW	2	113365617	missense	unknown
R2395:Fmn1	UTSW	2	113365181	missense	unknown
R2999:Fmn1	UTSW	2	113365094	missense	unknown
R3405:Fmn1	UTSW	2	113364348	missense	unknown
R3407:Fmn1	UTSW	2	113365055	missense	unknown
R3771:Fmn1	UTSW	2	113582118	missense	probably damaging	1.00
R3772:Fmn1	UTSW	2	113582118	missense	probably damaging	1.00
R3773:Fmn1	UTSW	2	113582118	missense	probably damaging	1.00
R3777:Fmn1	UTSW	2	113365122	missense	unknown
R4166:Fmn1	UTSW	2	113636735	missense	probably benign	0.33
R4477:Fmn1	UTSW	2	113444399	intron	probably benign
R4614:Fmn1	UTSW	2	113365149	missense	unknown
R4867:Fmn1	UTSW	2	113584120	critical splice donor site	probably null
R5063:Fmn1	UTSW	2	113364921	missense	unknown
R5224:Fmn1	UTSW	2	113365125	missense	unknown
R5510:Fmn1	UTSW	2	113596369	missense	probably damaging	1.00
R6083:Fmn1	UTSW	2	113364303	missense	unknown
R6234:Fmn1	UTSW	2	113365655	missense	unknown
R6266:Fmn1	UTSW	2	113596338	missense	probably damaging	1.00
R6764:Fmn1	UTSW	2	113525215	missense	unknown
R7054:Fmn1	UTSW	2	113365008	missense	unknown
R7311:Fmn1	UTSW	2	113525680	missense	unknown
R7439:Fmn1	UTSW	2	113441611	missense	unknown
R7440:Fmn1	UTSW	2	113441611	missense	unknown
R7441:Fmn1	UTSW	2	113441611	missense	unknown
R7444:Fmn1	UTSW	2	113441611	missense	unknown
R7461:Fmn1	UTSW	2	113364071	missense	unknown
R7526:Fmn1	UTSW	2	113688134	missense	probably damaging	0.99
R7540:Fmn1	UTSW	2	113529310	splice site	probably null
R7576:Fmn1	UTSW	2	113365008	missense	unknown
R7657:Fmn1	UTSW	2	113525193	missense	unknown
R7669:Fmn1	UTSW	2	113365477	missense	unknown
R7713:Fmn1	UTSW	2	113525814	missense	unknown
R7841:Fmn1	UTSW	2	113529465	critical splice donor site	probably null
R7953:Fmn1	UTSW	2	113596344	missense	probably benign	0.03
R7959:Fmn1	UTSW	2	113365622	missense	unknown
R8041:Fmn1	UTSW	2	113364594	missense	unknown
R8152:Fmn1	UTSW	2	113365692	missense	unknown
R8203:Fmn1	UTSW	2	113525275	missense	unknown
R8318:Fmn1	UTSW	2	113365157	missense	unknown
R8356:Fmn1	UTSW	2	113365040	missense	unknown
R8456:Fmn1	UTSW	2	113365040	missense	unknown
R8698:Fmn1	UTSW	2	113429807	missense	unknown
R8861:Fmn1	UTSW	2	113364804	missense	unknown
R8907:Fmn1	UTSW	2	113525569	missense	unknown
R9147:Fmn1	UTSW	2	113441628	missense	unknown
R9148:Fmn1	UTSW	2	113441628	missense	unknown
R9536:Fmn1	UTSW	2	113478917	missense	unknown
R9574:Fmn1	UTSW	2	113595057	missense	probably damaging	1.00
R9577:Fmn1	UTSW	2	113364125	missense	unknown
RF003:Fmn1	UTSW	2	113525786	small insertion	probably benign
Z1088:Fmn1	UTSW	2	113441925	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- ACCATTTGCTTTAGCTGGTAAATGC -3'
(R):5'- ACGCTGTTGTAACTCAGCC -3'

Sequencing Primer
(F):5'- GCTTTAGCTGGTAAATGCCAAGC -3'
(R):5'- GTTGTAACTCAGCCCTCTACG -3'

Posted On

2015-10-21