Mutagenetix > Incidental Mutation

Incidental Mutation 'R1602:Fmn1'

176189

Institutional Source

Beutler Lab

Gene Symbol

Fmn1

Ensembl Gene

ENSMUSG00000044042

Gene Name

formin 1

Synonyms

formin-1, Fmn

MMRRC Submission

039639-MU

Accession Numbers

Essential gene?

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

Stock #

R1602 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113158081-113547112 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 113355968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 803 (P803L)

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: P675L

SMART Domains

Protein: ENSMUSP00000080093
Gene: ENSMUSG00000044042
AA Change: P675L

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: P901L

SMART Domains

Protein: ENSMUSP00000097171
Gene: ENSMUSG00000044042
AA Change: P901L

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: P901L

SMART Domains

Protein: ENSMUSP00000099606
Gene: ENSMUSG00000044042
AA Change: P901L

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: P803L

SMART Domains

Protein: ENSMUSP00000125052
Gene: ENSMUSG00000044042
AA Change: P803L

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: P750L

Meta Mutation Damage Score

0.0875

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.4%

Validation Efficiency

91% (49/54)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd12	A	T	17: 66,290,683 (GRCm39)	Y1583*	probably null	Het
Ankrd34c	T	C	9: 89,611,058 (GRCm39)	T428A	possibly damaging	Het
Arfgef1	G	C	1: 10,275,115 (GRCm39)	I312M	probably benign	Het
Atr	T	C	9: 95,833,610 (GRCm39)	L2620P	probably damaging	Het
Ccdc110	A	G	8: 46,391,955 (GRCm39)	Y54C	probably benign	Het
Cecr2	T	C	6: 120,732,548 (GRCm39)	V480A	possibly damaging	Het
Chfr	A	G	5: 110,299,531 (GRCm39)	D308G	probably benign	Het
Cit	T	A	5: 116,135,789 (GRCm39)	I1919N	probably damaging	Het
Ctsc	T	A	7: 87,927,512 (GRCm39)	D34E	possibly damaging	Het
Diaph3	T	A	14: 87,328,594 (GRCm39)		probably benign	Het
Dnah6	T	A	6: 73,044,452 (GRCm39)	I3220F	probably damaging	Het
Eif1ad16	C	A	12: 87,985,134 (GRCm39)	E136D	probably benign	Het
Eif4a3l1	G	A	6: 136,305,778 (GRCm39)	A80T	probably damaging	Het
Elmod3	A	G	6: 72,546,242 (GRCm39)		probably null	Het
Fgd5	T	C	6: 92,043,165 (GRCm39)	V1215A	possibly damaging	Het
Filip1	T	C	9: 79,727,873 (GRCm39)	M249V	probably damaging	Het
Gcfc2	A	G	6: 81,921,401 (GRCm39)	K469R	probably damaging	Het
Itgad	A	G	7: 127,790,111 (GRCm39)	T637A	probably damaging	Het
Kank2	T	C	9: 21,681,133 (GRCm39)	S799G	probably damaging	Het
Kcnc4	A	T	3: 107,355,520 (GRCm39)	D309E	possibly damaging	Het
Lamc2	G	A	1: 153,002,774 (GRCm39)	T1069M	probably benign	Het
Lepr	T	A	4: 101,602,842 (GRCm39)	M210K	possibly damaging	Het
Lig3	T	C	11: 82,683,020 (GRCm39)		probably null	Het
Oat	G	T	7: 132,171,736 (GRCm39)	T33K	probably benign	Het
Or2ad1	T	C	13: 21,326,820 (GRCm39)	M136V	probably damaging	Het
Or4b1d	A	G	2: 89,969,399 (GRCm39)	F28S	probably damaging	Het
Or7c70	T	A	10: 78,682,802 (GRCm39)	M316L	probably benign	Het
Pcnx3	G	T	19: 5,722,543 (GRCm39)	A1383E	probably damaging	Het
Pctp	T	C	11: 89,879,561 (GRCm39)	Y100C	probably damaging	Het
Pex6	G	T	17: 47,023,063 (GRCm39)	R213L	probably benign	Het
Phlpp2	T	C	8: 110,660,655 (GRCm39)	L770S	possibly damaging	Het
Pkn2	A	T	3: 142,559,299 (GRCm39)	D75E	possibly damaging	Het
Pla2g12b	T	C	10: 59,257,375 (GRCm39)		probably null	Het
Plch2	C	T	4: 155,068,907 (GRCm39)	V1135I	probably damaging	Het
Pskh1	T	A	8: 106,639,453 (GRCm39)	S44R	probably benign	Het
Ptpra	G	T	2: 30,327,602 (GRCm39)	A119S	probably benign	Het
Shld2	A	G	14: 33,989,607 (GRCm39)	I433T	probably damaging	Het
Slfn3	A	G	11: 83,103,541 (GRCm39)	I137M	probably damaging	Het
St6galnac1	A	T	11: 116,660,113 (GRCm39)	S67T	probably benign	Het
Timd5	T	C	11: 46,426,415 (GRCm39)	I174T	probably benign	Het
Treml1	A	G	17: 48,671,917 (GRCm39)	E137G	probably damaging	Het
Ubr2	A	C	17: 47,251,987 (GRCm39)	C1518G	probably benign	Het
Vmn2r55	A	T	7: 12,386,571 (GRCm39)	C470S	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
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

Predicted Primers

PCR Primer
(F):5'- TGTGATGCTGAAAGCAAAGCAACC -3'
(R):5'- AGGACCTCCACTGTTAGGAAGAGC -3'

Sequencing Primer
(F):5'- TAGTACCCAAGAAGCTGACTATCTC -3'
(R):5'- CTAGGACATTGGGAAgtggtgg -3'

Posted On

2014-04-24