Mutagenetix > Incidental Mutations

Incidental Mutation 'R7439:Fmn1'

576801

Institutional Source

Beutler Lab

Gene Symbol

Fmn1

Ensembl Gene

ENSMUSG00000044042

Gene Name

formin 1

Synonyms

Fmn, formin-1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.282) question?

Stock #

R7439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113327736-113716767 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113441611 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 108 (Q108L)

Ref Sequence

ENSEMBL: ENSMUSP00000080093 (fasta)

Gene Model

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

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

unknown
Transcript: ENSMUST00000081349
AA Change: Q108L

SMART Domains

Protein: ENSMUSP00000080093
Gene: ENSMUSG00000044042
AA Change: Q108L

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

SMART Domains

Protein: ENSMUSP00000097171
Gene: ENSMUSG00000044042

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

SMART Domains

Protein: ENSMUSP00000099606
Gene: ENSMUSG00000044042

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

SMART Domains

Protein: ENSMUSP00000125052
Gene: ENSMUSG00000044042

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530003J23Rik	G	A	10: 117,238,697		probably benign	Het
Acacb	T	C	5: 114,195,642	V542A	possibly damaging	Het
Adprhl1	C	T	8: 13,223,069	V1230I	probably benign	Het
Agpat1	T	A	17: 34,610,909	Y77N	probably damaging	Het
Apc	T	A	18: 34,312,073	I674K	probably damaging	Het
Arpc5	T	C	1: 152,771,436	S97P	probably damaging	Het
Arrdc5	A	G	17: 56,297,931	F119L	probably benign	Het
Asap1	A	G	15: 64,130,256	V402A	probably damaging	Het
Aspg	T	C	12: 112,124,821	V479A	possibly damaging	Het
B3galnt2	G	A	13: 13,994,485	V368M	probably benign	Het
Bcl3	T	C	7: 19,822,611	T23A	probably benign	Het
Bpifb5	A	G	2: 154,228,933	K215E	possibly damaging	Het
Coa4	T	A	7: 100,539,271	C64S	probably damaging	Het
Dcun1d4	T	C	5: 73,491,536		probably null	Het
Dnaaf5	T	G	5: 139,166,113	C506W	probably damaging	Het
Dock3	A	G	9: 107,023,732	Y345H	probably damaging	Het
Dscaml1	A	G	9: 45,710,326	N1024S	possibly damaging	Het
Dsp	T	C	13: 38,176,502		probably null	Het
Dsp	A	G	13: 38,195,449	T2057A	probably benign	Het
Dync1h1	T	G	12: 110,636,453	L2176R	probably damaging	Het
Eif5b	A	C	1: 38,051,637	D1192A	probably benign	Het
Epn2	A	T	11: 61,546,848		probably benign	Het
Exoc1	T	A	5: 76,545,348	N360K	probably benign	Het
Fam135b	A	T	15: 71,463,680	V555E	probably damaging	Het
Fam208a	T	A	14: 27,471,645	V934E	probably damaging	Het
Gcc2	A	G	10: 58,256,901	T48A	probably benign	Het
Gm438	T	C	4: 144,777,762	D273G	probably damaging	Het
Gm6619	T	G	6: 131,490,391	I73S	possibly damaging	Het
Gm8267	T	A	14: 44,722,940	D116V	probably damaging	Het
Hapln3	T	A	7: 79,117,269	T341S	probably benign	Het
Lamb3	C	A	1: 193,332,166	D544E	possibly damaging	Het
Lhx5	T	A	5: 120,440,284	S390T	probably benign	Het
Lrrc63	A	G	14: 75,126,257	S145P	possibly damaging	Het
Lrriq1	T	C	10: 103,214,519	M791V	probably benign	Het
Lyg2	A	G	1: 37,911,137	Y37H	possibly damaging	Het
Nrbp1	T	A	5: 31,244,956	M172K	probably damaging	Het
Olfr1044	T	A	2: 86,171,010	D269V	probably damaging	Het
Olfr1261	A	G	2: 89,993,839	I149V	probably benign	Het
Olfr168	T	G	16: 19,530,900	S7R	probably benign	Het
Pcyt2	A	T	11: 120,611,383	Y308N	possibly damaging	Het
Peg10	C	CTCA	6: 4,756,453		probably benign	Het
Phf21b	A	G	15: 84,804,903	S141P	probably damaging	Het
Pigh	G	A	12: 79,089,550	P24S	probably benign	Het
Plekhg3	A	G	12: 76,576,485	D834G	probably damaging	Het
Plekhg5	T	A	4: 152,113,935	V860D	probably benign	Het
Pon1	A	G	6: 5,177,399	I170T	probably damaging	Het
Ptpn9	T	A	9: 57,027,433	Y160*	probably null	Het
Ptprj	T	C	2: 90,449,819	K1045R	possibly damaging	Het
Rilpl2	T	A	5: 124,463,788	H196L	probably benign	Het
Rnf112	C	T	11: 61,451,028	V317I	possibly damaging	Het
Rundc3a	G	T	11: 102,400,046		probably null	Het
Sgsm1	T	C	5: 113,274,321	Y489C	probably damaging	Het
Sis	G	A	3: 72,909,041	H1531Y	possibly damaging	Het
Slc26a9	A	G	1: 131,762,818	Y520C	probably damaging	Het
Smc5	A	G	19: 23,242,700	V467A	probably damaging	Het
Spata20	G	A	11: 94,484,041	A245V	probably benign	Het
Steap3	A	C	1: 120,241,518	F350V	probably benign	Het
Sucnr1	A	G	3: 60,086,696	Q215R	probably benign	Het
Supv3l1	G	A	10: 62,430,615	A594V	probably damaging	Het
Swt1	A	T	1: 151,411,064	F226I	probably benign	Het
Taar7f	A	G	10: 24,049,987	T160A	possibly damaging	Het
Tada2a	A	T	11: 84,126,986		probably null	Het
Taok3	C	A	5: 117,250,909	Q460K	probably damaging	Het
Twf2	A	G	9: 106,214,398	E268G	probably damaging	Het
Upf2	A	T	2: 6,018,932	I698F	unknown	Het
Vmn2r35	T	A	7: 7,817,014	N86Y	probably damaging	Het
Vmn2r84	T	C	10: 130,392,113	T85A	possibly damaging	Het
Vps13d	A	G	4: 145,105,856	S2833P		Het
Xrn1	T	C	9: 96,051,629	S1584P	probably benign	Het
Zfp354b	T	C	11: 50,922,397	Y567C	probably damaging	Het
Zfp52	A	T	17: 21,560,870	R327*	probably null	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
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
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
R7924:Fmn1	UTSW	2	113529465	critical splice donor site	probably null
R8041:Fmn1	UTSW	2	113364594	missense	unknown
RF003:Fmn1	UTSW	2	113525786	small insertion	probably benign
RF023:Fmn1	UTSW	2	113525786	small insertion	probably benign
Z1088:Fmn1	UTSW	2	113441925	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTCCTTGGAGCCTGAAGAG -3'
(R):5'- TGGGCTCTTGAGAAGGTTCAC -3'

Sequencing Primer
(F):5'- CCTGAAGAGGAAGATGCTGTGC -3'
(R):5'- GGCTCTTGAGAAGGTTCACATAAAAC -3'

Posted On

2019-10-07