Mutagenetix > Incidental Mutation

Incidental Mutation 'R1941:Fmn1'

213987

Institutional Source

Beutler Lab

Gene Symbol

Fmn1

Ensembl Gene

ENSMUSG00000044042

Gene Name

formin 1

Synonyms

formin-1, Fmn

MMRRC Submission

039959-MU

Accession Numbers

Essential gene?

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

Stock #

R1941 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113158081-113547112 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113195488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 396 (K396R)

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: K396R

SMART Domains

Protein: ENSMUSP00000097171
Gene: ENSMUSG00000044042
AA Change: K396R

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: K396R

SMART Domains

Protein: ENSMUSP00000099606
Gene: ENSMUSG00000044042
AA Change: K396R

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: K396R

SMART Domains

Protein: ENSMUSP00000125052
Gene: ENSMUSG00000044042
AA Change: K396R

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: 97.3%
3x: 96.6%
10x: 94.8%
20x: 91.1%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Art2b	A	C	7: 101,229,524 (GRCm39)	F125C	probably damaging	Het
Camta1	T	C	4: 151,159,612 (GRCm39)	Y1616C	probably damaging	Het
Cep162	T	G	9: 87,082,048 (GRCm39)	I1286L	probably benign	Het
Chd9	T	A	8: 91,703,697 (GRCm39)		probably null	Het
Col11a2	T	A	17: 34,263,925 (GRCm39)	S247T	probably benign	Het
Col6a4	T	G	9: 105,952,209 (GRCm39)	D563A	probably benign	Het
Crebbp	C	T	16: 3,997,555 (GRCm39)	M176I	probably benign	Het
Cyp4a12b	A	G	4: 115,295,256 (GRCm39)	N454S	probably damaging	Het
Dhx8	T	C	11: 101,643,024 (GRCm39)		probably null	Het
Dock7	G	A	4: 98,872,952 (GRCm39)	L1165F	probably benign	Het
Fam117a	A	T	11: 95,271,624 (GRCm39)	N399Y	probably damaging	Het
Foxk1	T	A	5: 142,442,429 (GRCm39)	V693E	possibly damaging	Het
Gml	A	G	15: 74,689,020 (GRCm39)	L10P	probably damaging	Het
Gpx8	A	G	13: 113,182,809 (GRCm39)	L34P	probably damaging	Het
Kank2	A	G	9: 21,684,162 (GRCm39)	L689P	possibly damaging	Het
Mt4	G	A	8: 94,864,874 (GRCm39)	C16Y	possibly damaging	Het
Naa15	C	A	3: 51,363,355 (GRCm39)	Y346*	probably null	Het
Ntrk3	C	T	7: 77,897,010 (GRCm39)	V676I	probably damaging	Het
Oasl2	G	A	5: 115,049,423 (GRCm39)		probably benign	Het
Or1e1c	T	A	11: 73,266,447 (GRCm39)	F294I	probably damaging	Het
Or6c215	T	A	10: 129,638,281 (GRCm39)	M38L	probably benign	Het
Or6c8	T	G	10: 128,915,823 (GRCm39)	N3T	probably damaging	Het
Or7e169	G	A	9: 19,757,246 (GRCm39)	S223F	probably damaging	Het
Or7g20	A	C	9: 18,947,162 (GRCm39)	T248P	possibly damaging	Het
Otud7a	C	T	7: 63,379,574 (GRCm39)	R273*	probably null	Het
Pcare	T	G	17: 72,059,063 (GRCm39)	T205P	probably damaging	Het
Pde11a	C	T	2: 76,121,594 (GRCm39)	R329Q	probably benign	Het
Pga5	G	T	19: 10,646,820 (GRCm39)		probably null	Het
Ppp1r1a	A	G	15: 103,441,528 (GRCm39)		probably null	Het
Pus10	A	G	11: 23,661,198 (GRCm39)	Q262R	possibly damaging	Het
Rbm17	T	C	2: 11,593,885 (GRCm39)	K241R	possibly damaging	Het
Rp1l1	T	G	14: 64,259,701 (GRCm39)	D114E	probably damaging	Het
Safb	T	A	17: 56,905,992 (GRCm39)		probably benign	Het
Sgpl1	T	C	10: 60,939,086 (GRCm39)	Y371C	probably damaging	Het
Siglec1	C	A	2: 130,920,051 (GRCm39)	A827S	possibly damaging	Het
Smg5	T	A	3: 88,252,687 (GRCm39)	S158T	possibly damaging	Het
Sp2	C	T	11: 96,846,762 (GRCm39)	C527Y	probably damaging	Het
Spaca6	A	G	17: 18,058,664 (GRCm39)	I71V	probably benign	Het
Spaca6	A	G	17: 18,058,692 (GRCm39)	E80G	probably damaging	Het
Steap1	C	A	5: 5,790,541 (GRCm39)	A136S	probably damaging	Het
Supv3l1	G	C	10: 62,285,391 (GRCm39)	P25R	probably benign	Het
Tex21	T	C	12: 76,268,458 (GRCm39)	K108R	possibly damaging	Het
Tnc	A	G	4: 63,933,201 (GRCm39)	Y688H	probably damaging	Het
Tnr	G	A	1: 159,677,704 (GRCm39)	E30K	possibly damaging	Het
Tnrc18	G	T	5: 142,800,905 (GRCm39)	P18T	probably damaging	Het
Ttk	T	G	9: 83,735,179 (GRCm39)	S422A	probably benign	Het
Ubap1	A	G	4: 41,378,968 (GRCm39)	K61E	probably damaging	Het
Ubr2	C	T	17: 47,284,952 (GRCm39)	R522H	probably damaging	Het
Vwf	A	T	6: 125,616,242 (GRCm39)	E1185D	possibly damaging	Het
Wwp2	A	G	8: 108,244,547 (GRCm39)	T194A	probably benign	Het
Zfp36	A	G	7: 28,077,071 (GRCm39)	V279A	probably damaging	Het
Zfp870	C	A	17: 33,101,778 (GRCm39)	R517L	possibly 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
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'- AAGATTCAGGAACCATCTGCCC -3'
(R):5'- TTATGGCCACTCTGCGGTAG -3'

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

Posted On

2014-07-14