Mutagenetix > Incidental Mutation

Incidental Mutation 'R2140:Fmn1'

236109

Institutional Source

Beutler Lab

Gene Symbol

Fmn1

Ensembl Gene

ENSMUSG00000044042

Gene Name

formin 1

Synonyms

Fmn, formin-1

MMRRC Submission

040143-MU

Accession Numbers

Essential gene?

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

Stock #

R2140 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113327736-113716767 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113595048 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 1189 (K1189R)

Ref Sequence

ENSEMBL: ENSMUSP00000099606 (fasta)

Gene Model

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

AlphaFold

Q05860

Predicted Effect

probably benign
Transcript: ENSMUST00000081349
AA Change: K963R

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000080093
Gene: ENSMUSG00000044042
AA Change: K963R

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

probably benign
Transcript: ENSMUST00000099576
AA Change: K1189R

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097171
Gene: ENSMUSG00000044042
AA Change: K1189R

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

probably benign
Transcript: ENSMUST00000102547
AA Change: K1189R

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099606
Gene: ENSMUSG00000044042
AA Change: K1189R

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

probably benign
Transcript: ENSMUST00000161731
AA Change: K1091R

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125052
Gene: ENSMUSG00000044042
AA Change: K1091R

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

Meta Mutation Damage Score

0.0688

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (96/96)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	T	C	14: 4,348,902	I21T	probably damaging	Het
9230110C19Rik	T	C	9: 8,022,477	D248G	probably damaging	Het
Adgrf1	A	C	17: 43,300,802	E186D	probably damaging	Het
Adgrf4	C	T	17: 42,666,898	R518Q	possibly damaging	Het
Afdn	A	G	17: 13,810,433	E202G	probably damaging	Het
Agfg2	T	A	5: 137,667,116	R126W	probably damaging	Het
Alkbh2	C	T	5: 114,125,716	V77I	probably benign	Het
Alppl2	A	G	1: 87,087,697	S381P	probably benign	Het
Aqp2	A	G	15: 99,579,366	T72A	probably damaging	Het
Atp9b	A	G	18: 80,736,087	C1123R	probably damaging	Het
AU016765	T	A	17: 64,520,000		noncoding transcript	Het
Bscl2	T	C	19: 8,845,320		probably null	Het
Ccdc80	A	T	16: 45,127,446	Y929F	probably damaging	Het
Cenpj	T	C	14: 56,526,932	D1341G	probably damaging	Het
Cir1	A	T	2: 73,312,437	S18T	probably damaging	Het
Clcn6	A	G	4: 148,024,137	F145S	possibly damaging	Het
Cnksr1	A	G	4: 134,229,628	Y488H	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,122,806		probably null	Het
Crb1	T	C	1: 139,237,012	I1125V	probably benign	Het
Cyp3a13	A	T	5: 137,921,454	V20D	possibly damaging	Het
Dars	T	A	1: 128,372,162	M362L	probably benign	Het
Dck	T	C	5: 88,772,723	C101R	probably damaging	Het
Dnah11	T	C	12: 118,008,810	T2880A	probably benign	Het
Dnah7b	T	A	1: 46,268,670	M3048K	probably damaging	Het
Eef1a2	C	T	2: 181,148,742	E374K	probably benign	Het
Eif3a	A	T	19: 60,775,394		probably benign	Het
Esco1	A	G	18: 10,574,873		probably null	Het
Exoc8	C	T	8: 124,897,415	R71Q	possibly damaging	Het
Fam208a	C	T	14: 27,480,035	T1462I	probably damaging	Het
Far1	G	A	7: 113,566,460	V445M	possibly damaging	Het
Fbn1	C	A	2: 125,343,810	C1648F	probably damaging	Het
Foxl2	C	A	9: 98,956,487	P276H	unknown	Het
Fpr3	T	A	17: 17,970,617	V50E	probably damaging	Het
Garem1	T	A	18: 21,129,374	R794S	probably damaging	Het
Gemin4	G	C	11: 76,211,050	P962A	probably damaging	Het
Glyatl3	T	C	17: 40,911,084	D93G	probably benign	Het
Gm14124	A	T	2: 150,269,361	H657L	probably benign	Het
Gm4787	A	G	12: 81,378,562	I274T	probably benign	Het
Gucy1a1	C	T	3: 82,118,886		probably null	Het
Hook1	GATGAATGA	GATGA	4: 96,013,312	503	probably null	Het
Ift20	G	A	11: 78,540,034	E68K	probably damaging	Het
Ints13	A	G	6: 146,576,431	S7P	probably damaging	Het
Kat5	T	A	19: 5,605,685		probably null	Het
Kcnma1	A	C	14: 23,314,220	L988R	probably damaging	Het
Kcnq3	C	A	15: 66,005,978		probably benign	Het
Kctd16	A	G	18: 40,259,178	E273G	possibly damaging	Het
Krt82	T	A	15: 101,545,156	Q265L	probably damaging	Het
Lama2	A	T	10: 27,054,694		probably null	Het
Laptm4b	G	T	15: 34,238,332	M3I	probably benign	Het
Lmtk2	A	G	5: 144,147,615	Y156C	probably damaging	Het
Lrrc58	G	A	16: 37,881,409	E350K	probably damaging	Het
Lrrk1	A	T	7: 66,330,750	D227E	probably damaging	Het
Macf1	C	T	4: 123,355,102	C7210Y	probably damaging	Het
Madd	A	G	2: 91,152,509	I1363T	possibly damaging	Het
Mcm3	A	G	1: 20,813,110	V295A	probably benign	Het
Mki67	A	G	7: 135,695,592	I2571T	possibly damaging	Het
Mtrr	C	T	13: 68,568,940	A385T	possibly damaging	Het
Myh7b	A	G	2: 155,620,123	Y313C	probably damaging	Het
Myot	A	T	18: 44,354,125	H343L	possibly damaging	Het
Myt1	C	A	2: 181,825,979	Q1069K	probably damaging	Het
Nid1	T	A	13: 13,499,668	D877E	probably damaging	Het
Nle1	A	G	11: 82,905,568	V159A	probably damaging	Het
Nmbr	C	A	10: 14,770,442	Y353*	probably null	Het
Nos1ap	T	A	1: 170,329,166	D241V	probably damaging	Het
Nostrin	A	C	2: 69,166,003	Y209S	probably damaging	Het
Olfr1099	A	T	2: 86,959,281	M59K	probably damaging	Het
Olfr115	T	G	17: 37,610,471	E93D	probably benign	Het
Olfr1168	A	T	2: 88,185,095	S73C	probably benign	Het
Olfr1240	C	T	2: 89,439,583	R232H	probably benign	Het
Olfr283	G	A	15: 98,378,396	T238I	possibly damaging	Het
Olfr378	A	T	11: 73,425,881	M34K	probably damaging	Het
Pcdh7	T	A	5: 58,128,996	V1138E	probably damaging	Het
Pglyrp3	T	G	3: 92,026,567	V173G	probably benign	Het
Plec	T	C	15: 76,183,174	T1331A	probably benign	Het
Plxnb2	T	C	15: 89,156,562	D1787G	probably benign	Het
Pms1	T	A	1: 53,281,988	I29F	probably damaging	Het
Ptprt	G	A	2: 161,811,988	T574I	probably damaging	Het
R3hdm1	A	G	1: 128,190,693	Y561C	probably damaging	Het
Rab17	A	G	1: 90,960,078	F120S	probably benign	Het
Rab7b	T	A	1: 131,698,419	W62R	probably damaging	Het
Ryr2	C	T	13: 11,560,607	G4835E	probably damaging	Het
Ryr3	A	G	2: 112,875,148	V807A	probably benign	Het
Sept4	A	T	11: 87,583,436	Q60L	probably benign	Het
Slc23a1	C	T	18: 35,626,434	R26Q	unknown	Het
Slc7a4	C	A	16: 17,574,544	R342L	possibly damaging	Het
Slfn9	C	T	11: 82,984,655	C367Y	possibly damaging	Het
Slitrk6	T	G	14: 110,750,794	T494P	probably benign	Het
Tiam1	A	G	16: 89,849,645		probably benign	Het
Tiparp	C	A	3: 65,529,252		probably benign	Het
Tmem39b	T	C	4: 129,678,688	T374A	probably benign	Het
Trim5	G	A	7: 104,276,791	R188*	probably null	Het
Ttn	C	T	2: 76,813,339	G11436R	probably damaging	Het
Ubr4	C	T	4: 139,477,207	T4810M	probably damaging	Het
Vmn2r26	A	T	6: 124,061,237	E590D	probably benign	Het
Wwc1	A	G	11: 35,870,528	F650S	probably benign	Het
Xrcc6	T	A	15: 82,022,977	F167I	probably damaging	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
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
R4701:Fmn1	UTSW	2	113584071	missense	possibly damaging	0.76
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'- CCCACATGATACTGCTGTAGTG -3'
(R):5'- TCAGATAAACAATTACCACGGGG -3'

Sequencing Primer
(F):5'- CCACATGATACTGCTGTAGTGAAATG -3'
(R):5'- AGGTTCAGAAGAAAAATAACCATAGC -3'

Posted On

2014-10-01