Mutagenetix > Incidental Mutation

Incidental Mutation 'R6764:Fmn1'

531806

Institutional Source

Beutler Lab

Gene Symbol

Fmn1

Ensembl Gene

ENSMUSG00000044042

Gene Name

formin 1

Synonyms

formin-1, Fmn

MMRRC Submission

044880-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

R6764 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113158081-113547112 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113355560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 667 (E667G)

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: E539G

SMART Domains

Protein: ENSMUSP00000080093
Gene: ENSMUSG00000044042
AA Change: E539G

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: E765G

SMART Domains

Protein: ENSMUSP00000097171
Gene: ENSMUSG00000044042
AA Change: E765G

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: E765G

SMART Domains

Protein: ENSMUSP00000099606
Gene: ENSMUSG00000044042
AA Change: E765G

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

unknown
Transcript: ENSMUST00000161731
AA Change: E667G

SMART Domains

Protein: ENSMUSP00000125052
Gene: ENSMUSG00000044042
AA Change: E667G

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (39/39)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	G	T	11: 53,290,657 (GRCm39)	R539L	probably damaging	Het
Aox1	T	A	1: 58,389,441 (GRCm39)	Y1147N	probably damaging	Het
Arhgef25	A	G	10: 127,019,970 (GRCm39)	F423L	probably damaging	Het
Atp1a2	A	T	1: 172,112,181 (GRCm39)	D571E	probably benign	Het
Bank1	A	G	3: 135,948,701 (GRCm39)	S159P	probably damaging	Het
Bcan	C	A	3: 87,895,685 (GRCm39)	R817L	probably damaging	Het
Cacna1g	A	G	11: 94,304,014 (GRCm39)	S1990P	possibly damaging	Het
Ccna1	G	A	3: 54,953,499 (GRCm39)	T368M	probably damaging	Het
Chia1	T	C	3: 106,038,056 (GRCm39)		probably null	Het
Ctbp1	T	C	5: 33,416,589 (GRCm39)	H136R	possibly damaging	Het
Dner	T	G	1: 84,472,502 (GRCm39)	D366A	probably damaging	Het
Eif3d	A	T	15: 77,845,886 (GRCm39)	D378E	probably damaging	Het
Evpl	A	G	11: 116,113,770 (GRCm39)	S1307P	probably damaging	Het
Fgd5	T	A	6: 91,966,402 (GRCm39)	N720K	probably damaging	Het
Gm4846	A	G	1: 166,319,121 (GRCm39)	C206R	probably benign	Het
Grpel1	G	A	5: 36,622,569 (GRCm39)	R11H	probably benign	Het
Gsn	A	G	2: 35,174,056 (GRCm39)	Y55C	probably damaging	Het
Hephl1	G	A	9: 15,000,217 (GRCm39)	T345I	possibly damaging	Het
Ints2	T	A	11: 86,103,605 (GRCm39)	K1150N	probably benign	Het
Itga4	C	A	2: 79,155,958 (GRCm39)	H975N	probably benign	Het
Musk	T	C	4: 58,354,027 (GRCm39)	V360A	probably damaging	Het
Naalad2	A	T	9: 18,314,185 (GRCm39)		probably benign	Het
Ninj2	G	T	6: 120,175,011 (GRCm39)	A51S	probably benign	Het
Nscme3l	A	G	19: 5,552,900 (GRCm39)	S294P	probably damaging	Het
Pcdhac1	T	C	18: 37,223,732 (GRCm39)	Y182H	probably damaging	Het
Pitpnm3	A	G	11: 71,942,059 (GRCm39)	F916S	probably damaging	Het
Sfrp5	T	A	19: 42,188,238 (GRCm39)	M194L	probably benign	Het
Sigirr	C	T	7: 140,673,155 (GRCm39)	V99I	probably benign	Het
Smco2	A	G	6: 146,772,827 (GRCm39)	D343G	probably damaging	Het
Snap91	A	G	9: 86,674,234 (GRCm39)	I584T	probably benign	Het
Syne1	G	A	10: 5,179,011 (GRCm39)	Q4488*	probably null	Het
Tbc1d24	A	C	17: 24,404,754 (GRCm39)	F130C	possibly damaging	Het
Trpm7	A	G	2: 126,686,340 (GRCm39)	V296A	possibly damaging	Het
Ttll11	T	C	2: 35,780,460 (GRCm39)		probably null	Het
Vmn2r115	A	G	17: 23,565,046 (GRCm39)	D311G	probably damaging	Het
Vmn2r63	A	G	7: 42,552,695 (GRCm39)	S854P	probably damaging	Het
Zfp330	C	T	8: 83,493,934 (GRCm39)	C109Y	probably damaging	Het
Zfp534	C	T	4: 147,759,175 (GRCm39)	G498D	probably benign	Het
Zfp62	A	G	11: 49,105,996 (GRCm39)	D29G	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
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
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'- TGGCCCCTAGATGTTTGTTC -3'
(R):5'- TTTCAGCATCACAGGGCTTG -3'

Sequencing Primer
(F):5'- TGGATTCTTGAACAAATGTCTCC -3'
(R):5'- CAGGGCTTGAGGAAGGTCTCTC -3'

Posted On

2018-08-29