Mutagenetix > Incidental Mutation

Incidental Mutation 'R5224:Fmn1'

402480

Institutional Source

Beutler Lab

Gene Symbol

Fmn1

Ensembl Gene

ENSMUSG00000044042

Gene Name

formin 1

Synonyms

formin-1, Fmn

MMRRC Submission

042797-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.292) question?

Stock #

R5224 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113158081-113547112 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113195470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 390 (E390G)

Ref Sequence

ENSEMBL: ENSMUSP00000125052 (fasta)

Gene Model

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

AlphaFold

Q05860

Predicted Effect

unknown
Transcript: ENSMUST00000099576
AA Change: E390G

SMART Domains

Protein: ENSMUSP00000097171
Gene: ENSMUSG00000044042
AA Change: E390G

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

unknown
Transcript: ENSMUST00000102547
AA Change: E390G

SMART Domains

Protein: ENSMUSP00000099606
Gene: ENSMUSG00000044042
AA Change: E390G

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

noncoding transcript
Transcript: ENSMUST00000110954

Predicted Effect

unknown
Transcript: ENSMUST00000161731
AA Change: E390G

SMART Domains

Protein: ENSMUSP00000125052
Gene: ENSMUSG00000044042
AA Change: E390G

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

0.0869

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (58/59)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	CGTGACCTTTCTGGT	CGT	10: 85,481,386 (GRCm39)		probably benign	Het
Ahi1	A	G	10: 20,862,921 (GRCm39)	S699G	probably damaging	Het
Atp10d	C	T	5: 72,426,669 (GRCm39)	A959V	probably benign	Het
Axl	T	C	7: 25,486,369 (GRCm39)	M112V	probably benign	Het
Brd10	A	T	19: 29,696,450 (GRCm39)	S1014R	possibly damaging	Het
Camk1g	A	T	1: 193,037,342 (GRCm39)	D119E	probably damaging	Het
Capn8	A	C	1: 182,424,554 (GRCm39)	N117T	probably damaging	Het
Cct3	G	A	3: 88,204,532 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 47,752,080 (GRCm39)	T1293A	possibly damaging	Het
Depdc1b	A	G	13: 108,521,354 (GRCm39)	D387G	probably damaging	Het
Dtx3l	A	G	16: 35,759,163 (GRCm39)	Y29H	possibly damaging	Het
Erp44	A	T	4: 48,279,435 (GRCm39)	N2K	probably benign	Het
Ganab	T	A	19: 8,887,955 (GRCm39)	D396E	probably benign	Het
Gatd3a	A	G	10: 77,999,367 (GRCm39)	V148A	probably damaging	Het
Gcc2	T	A	10: 58,121,982 (GRCm39)	S1140T	probably damaging	Het
Gm7008	T	C	12: 40,273,342 (GRCm39)		probably benign	Het
Gphn	T	A	12: 78,637,361 (GRCm39)	F354I	probably damaging	Het
H2-T7	G	A	17: 36,454,231 (GRCm39)		noncoding transcript	Het
Hnrnpul1	G	A	7: 25,444,600 (GRCm39)	T236M	probably damaging	Het
Itpr2	T	A	6: 146,068,149 (GRCm39)	M2410L	probably benign	Het
Jaml	T	A	9: 45,015,564 (GRCm39)	M356K	probably damaging	Het
Kbtbd12	T	A	6: 88,594,681 (GRCm39)		probably benign	Het
Ldlrad3	G	T	2: 101,943,954 (GRCm39)	N39K	probably damaging	Het
Lrp1b	G	A	2: 41,000,852 (GRCm39)	T2238I	possibly damaging	Het
Lypd8	T	A	11: 58,277,634 (GRCm39)	C139S	possibly damaging	Het
Masp1	G	T	16: 23,313,445 (GRCm39)	H163Q	probably damaging	Het
Mpo	T	C	11: 87,687,283 (GRCm39)		probably benign	Het
Muc19	A	T	15: 91,825,910 (GRCm39)		noncoding transcript	Het
Muc5ac	T	A	7: 141,347,708 (GRCm39)	S438T	probably benign	Het
Nav2	T	C	7: 49,201,473 (GRCm39)	V160A	probably benign	Het
Nlrc5	G	T	8: 95,220,944 (GRCm39)	A1128S	probably benign	Het
Nlrp5	T	A	7: 23,117,401 (GRCm39)	L375Q	probably damaging	Het
Nlrp9a	A	G	7: 26,256,717 (GRCm39)	T112A	probably benign	Het
Nppa	T	C	4: 148,085,773 (GRCm39)	S127P	probably damaging	Het
Or8k24	A	G	2: 86,216,193 (GRCm39)	S190P	possibly damaging	Het
Osbpl1a	T	C	18: 13,066,753 (GRCm39)	N2S	probably benign	Het
Otoa	A	G	7: 120,739,016 (GRCm39)	T742A	probably damaging	Het
Pcdh10	A	G	3: 45,347,249 (GRCm39)	R1015G	probably damaging	Het
Pdzrn3	C	T	6: 101,130,272 (GRCm39)	D515N	probably damaging	Het
Plpp1	T	A	13: 112,988,046 (GRCm39)	Y56*	probably null	Het
Ppp1r12a	A	G	10: 108,096,886 (GRCm39)	T236A	probably benign	Het
Rhag	T	C	17: 41,139,395 (GRCm39)	L110P	probably damaging	Het
Scn11a	T	A	9: 119,583,858 (GRCm39)	N1586Y	probably damaging	Het
Sgms2	T	A	3: 131,135,766 (GRCm39)	K36I	probably damaging	Het
Slc22a2	A	G	17: 12,805,719 (GRCm39)	N157D	probably damaging	Het
Stx19	T	G	16: 62,642,937 (GRCm39)	M251R	probably benign	Het
Suco	A	G	1: 161,662,274 (GRCm39)	I719T	probably benign	Het
Tnr	A	G	1: 159,750,885 (GRCm39)	D1282G	probably damaging	Het
Tram1	T	C	1: 13,648,349 (GRCm39)	R154G	probably benign	Het
Ubtfl1	G	T	9: 18,321,326 (GRCm39)	V285L	probably benign	Het
Ugt2b38	A	G	5: 87,571,601 (GRCm39)	S144P	probably benign	Het
Washc2	T	G	6: 116,185,965 (GRCm39)	*58G	probably null	Het
Zfp354a	T	A	11: 50,960,876 (GRCm39)	S362R	probably damaging	Het

Other mutations in Fmn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R1491:Fmn1	UTSW	2	113,426,714 (GRCm39)	missense	probably damaging	1.00
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
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'- AGATTCAGGAACCATCTGCC -3'
(R):5'- TTATGGCCACTCTGCGGTAG -3'

Sequencing Primer
(F):5'- TCTGCCCCAGTAAAACGAATAGTTAG -3'
(R):5'- ACTCTGCGGTAGCCCAG -3'

Posted On

2016-07-22