Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01520:Fmn1'

90485

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fmn1

Ensembl Gene

ENSMUSG00000044042

Gene Name

formin 1

Synonyms

formin-1, Fmn

Accession Numbers

Essential gene?

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

Stock #

IGL01520

Quality Score

Status

Chromosome

Chromosomal Location

113158081-113547112 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to A at 113274713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125052 (fasta)

Gene Model

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

AlphaFold

Q05860

Predicted Effect

unknown
Transcript: ENSMUST00000081349
AA Change: D466E

SMART Domains

Protein: ENSMUSP00000080093
Gene: ENSMUSG00000044042
AA Change: D466E

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

unknown
Transcript: ENSMUST00000099576
AA Change: D692E

SMART Domains

Protein: ENSMUSP00000097171
Gene: ENSMUSG00000044042
AA Change: D692E

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: D692E

SMART Domains

Protein: ENSMUSP00000099606
Gene: ENSMUSG00000044042
AA Change: D692E

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

noncoding transcript
Transcript: ENSMUST00000143525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148420

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185668
AA Change: D541E

Coding Region Coverage

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	A	7: 78,734,318 (GRCm39)	H58Q	probably damaging	Het
Atp6v1c2	A	T	12: 17,347,754 (GRCm39)	L149Q	probably damaging	Het
Bltp1	T	A	3: 37,027,409 (GRCm39)	Y2265*	probably null	Het
Cd40lg	A	G	X: 56,265,148 (GRCm39)	N132D	probably benign	Het
Cemip	G	T	7: 83,597,830 (GRCm39)	T1060K	probably benign	Het
Ces1a	G	T	8: 93,771,726 (GRCm39)	P24T	probably damaging	Het
Ces5a	A	T	8: 94,246,206 (GRCm39)	S328T	probably benign	Het
Cfap70	A	G	14: 20,470,755 (GRCm39)	C497R	probably benign	Het
Cndp2	T	C	18: 84,686,732 (GRCm39)	K430R	probably benign	Het
Cplane1	C	A	15: 8,251,395 (GRCm39)	T1889K	probably damaging	Het
Crlf3	T	C	11: 79,950,972 (GRCm39)	D126G	probably benign	Het
Cxcr1	A	T	1: 74,231,434 (GRCm39)	L196Q	probably damaging	Het
E330013P04Rik	A	G	19: 60,150,329 (GRCm39)		noncoding transcript	Het
Erbb2	C	T	11: 98,324,835 (GRCm39)	H810Y	probably benign	Het
Fpr3	A	G	17: 18,191,325 (GRCm39)	T199A	possibly damaging	Het
Gcsh	A	G	8: 117,710,688 (GRCm39)		probably benign	Het
Gm10073	T	A	8: 107,299,901 (GRCm39)	I28F	probably benign	Het
Gucy1a2	C	A	9: 3,759,561 (GRCm39)	Q456K	probably damaging	Het
Hgs	C	A	11: 120,369,174 (GRCm39)	P317T	probably damaging	Het
Inmt	C	A	6: 55,148,213 (GRCm39)	V139F	probably damaging	Het
Kcnma1	C	A	14: 23,551,211 (GRCm39)	M460I	possibly damaging	Het
Map9	A	T	3: 82,286,272 (GRCm39)	N359I	probably damaging	Het
Mavs	T	C	2: 131,087,263 (GRCm39)	S254P	probably benign	Het
Mcts1	T	A	X: 37,700,636 (GRCm39)		probably benign	Het
Mecp2	C	A	X: 73,079,447 (GRCm39)	R344L	possibly damaging	Het
Or1e32	T	G	11: 73,705,612 (GRCm39)	T99P	probably damaging	Het
Or4z4	A	G	19: 12,077,000 (GRCm39)	M1T	probably null	Het
Or5b3	G	T	19: 13,388,114 (GRCm39)	M60I	probably damaging	Het
Or8g36	T	C	9: 39,422,342 (GRCm39)	I225V	possibly damaging	Het
Or8g54	T	G	9: 39,706,674 (GRCm39)	M1R	probably null	Het
Or9g4	T	C	2: 85,504,701 (GRCm39)	T265A	probably benign	Het
Rasgrp1	T	C	2: 117,119,144 (GRCm39)	I498V	probably damaging	Het
Rbbp6	T	A	7: 122,584,898 (GRCm39)	S185T	possibly damaging	Het
Rd3	A	T	1: 191,717,283 (GRCm39)	H251L	possibly damaging	Het
Rnf180	T	A	13: 105,386,864 (GRCm39)	D148V	probably damaging	Het
Rnf43	C	A	11: 87,555,542 (GRCm39)	A34E	probably damaging	Het
Rslcan18	A	G	13: 67,250,172 (GRCm39)	V21A	probably benign	Het
Septin9	T	C	11: 117,243,469 (GRCm39)	V128A	probably damaging	Het
Slc36a1	A	G	11: 55,110,482 (GRCm39)	H103R	probably benign	Het
Spata6l	A	T	19: 28,873,532 (GRCm39)		probably null	Het
Ssh2	A	G	11: 77,340,732 (GRCm39)	D628G	probably damaging	Het
Tlcd3a	T	C	11: 76,098,051 (GRCm39)		probably null	Het
Tmem119	A	G	5: 113,933,546 (GRCm39)	F85S	probably damaging	Het
Tpp1	A	T	7: 105,396,936 (GRCm39)	I398N	probably benign	Het
Ttc3	T	C	16: 94,191,066 (GRCm39)	Y203H	probably benign	Het
Vars1	G	T	17: 35,232,849 (GRCm39)	V898L	probably benign	Het
Vmn1r85	A	C	7: 12,819,081 (GRCm39)	V21G	probably damaging	Het
Zfp521	T	C	18: 14,072,045 (GRCm39)	H65R	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
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
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

Posted On

2013-12-09