Mutagenetix > Incidental Mutations

Incidental Mutation 'R7713:Fmn1'

594718

Institutional Source

Beutler Lab

Gene Symbol

Fmn1

Ensembl Gene

ENSMUSG00000044042

Gene Name

formin 1

Synonyms

Fmn, formin-1

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.282) question?

Stock #

R7713 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113327736-113716767 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 113525814 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 965 (P965S)

Ref Sequence

ENSEMBL: ENSMUSP00000099606 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000081349
AA Change: P739S

SMART Domains

Protein: ENSMUSP00000080093
Gene: ENSMUSG00000044042
AA Change: P739S

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: P965S

SMART Domains

Protein: ENSMUSP00000097171
Gene: ENSMUSG00000044042
AA Change: P965S

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: P965S

SMART Domains

Protein: ENSMUSP00000099606
Gene: ENSMUSG00000044042
AA Change: P965S

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: P867S

SMART Domains

Protein: ENSMUSP00000125052
Gene: ENSMUSG00000044042
AA Change: P867S

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,230,311	S119P	possibly damaging	Het
Agtpbp1	T	A	13: 59,514,152	I282F	probably damaging	Het
Armh1	A	T	4: 117,214,228	M355K	possibly damaging	Het
BC067074	T	G	13: 113,346,541	V1559G		Het
Cep128	A	T	12: 91,019,322	D1013E	probably benign	Het
Clock	A	T	5: 76,245,420		probably null	Het
D630003M21Rik	G	A	2: 158,216,778	Q401*	probably null	Het
Dnah17	C	A	11: 118,025,171	V4302L	probably benign	Het
Drc3	A	G	11: 60,370,560	Y179C	probably benign	Het
Erbb3	T	C	10: 128,574,449	T647A	probably benign	Het
Esrp2	T	C	8: 106,134,276	T205A	probably benign	Het
Fbxw7	T	C	3: 84,967,565		probably null	Het
Fndc7	C	T	3: 108,870,663	V412M	possibly damaging	Het
G2e3	C	A	12: 51,369,056	A525E	probably damaging	Het
Gcfc2	C	T	6: 81,941,390	R354C	probably damaging	Het
Ggt1	T	A	10: 75,585,674	N510K	probably damaging	Het
Gnas	C	T	2: 174,299,027	T389I	unknown	Het
Hapln3	C	T	7: 79,117,373	R306H	probably benign	Het
Hydin	T	C	8: 110,593,812	L4496P	possibly damaging	Het
Iqgap2	T	A	13: 95,731,444	I219L	probably benign	Het
Kcnj2	T	C	11: 111,072,483	S234P	probably benign	Het
Lipf	T	A	19: 33,973,065	S286T	probably damaging	Het
Lrrc32	G	T	7: 98,499,338	G442W	probably damaging	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,293,999		probably benign	Het
Mtmr4	T	C	11: 87,597,724	V68A	probably damaging	Het
Mug2	T	C	6: 122,078,795	S1146P	possibly damaging	Het
Naa35	T	C	13: 59,598,105	I75T	probably benign	Het
Nepn	T	A	10: 52,401,178	F337I	probably benign	Het
Nf1	A	G	11: 79,425,606	M496V	probably benign	Het
Nthl1	A	T	17: 24,638,657	I277F	possibly damaging	Het
Olfr1208	T	C	2: 88,897,778		probably benign	Het
Olfr518	A	C	7: 108,880,682	I308S	probably damaging	Het
Osr1	A	T	12: 9,579,253	Y42F	probably damaging	Het
Rad54l2	G	A	9: 106,717,223	R369W	probably damaging	Het
Ryr3	T	A	2: 112,635,346	T4828S	probably benign	Het
Slc25a54	T	A	3: 109,102,817	C211S	probably damaging	Het
Ube4b	C	T	4: 149,398,781	R10Q	possibly damaging	Het
Usp9y	G	A	Y: 1,304,411	Q2440*	probably null	Het
Yars	G	T	4: 129,210,498	V312L	probably benign	Het
Zfp26	G	A	9: 20,441,334	T145I	probably benign	Het
Zic5	T	C	14: 122,464,113	N402S	unknown	Het

Other mutations in Fmn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Fmn1	APN	2	113444467	intron	probably benign
IGL01520:Fmn1	APN	2	113444368	intron	probably benign
IGL02039:Fmn1	APN	2	113365080	missense	unknown
IGL02222:Fmn1	APN	2	113593109	missense	probably damaging	1.00
IGL02238:Fmn1	APN	2	113582125	missense	possibly damaging	0.90
IGL02373:Fmn1	APN	2	113364126	missense	unknown
IGL02490:Fmn1	APN	2	113529472	splice site	probably benign
IGL02506:Fmn1	APN	2	113525295	missense	unknown
IGL02684:Fmn1	APN	2	113525277	missense	unknown
IGL03008:Fmn1	APN	2	113365100	missense	unknown
IGL03058:Fmn1	APN	2	113441814	intron	probably benign
IGL03076:Fmn1	APN	2	113584092	missense	probably damaging	0.99
FR4304:Fmn1	UTSW	2	113525774	small insertion	probably benign
FR4304:Fmn1	UTSW	2	113525783	small insertion	probably benign
FR4342:Fmn1	UTSW	2	113525783	small insertion	probably benign
FR4589:Fmn1	UTSW	2	113525773	small insertion	probably benign
FR4589:Fmn1	UTSW	2	113525774	small insertion	probably benign
FR4737:Fmn1	UTSW	2	113525778	small insertion	probably benign
FR4737:Fmn1	UTSW	2	113525781	small insertion	probably benign
FR4737:Fmn1	UTSW	2	113525784	small insertion	probably benign
R0349:Fmn1	UTSW	2	113365796	missense	unknown
R0452:Fmn1	UTSW	2	113636779	missense	possibly damaging	0.46
R0529:Fmn1	UTSW	2	113707853	splice site	probably benign
R1215:Fmn1	UTSW	2	113693030	nonsense	probably null
R1471:Fmn1	UTSW	2	113693094	missense	possibly damaging	0.95
R1489:Fmn1	UTSW	2	113365212	missense	unknown
R1491:Fmn1	UTSW	2	113596369	missense	probably damaging	1.00
R1551:Fmn1	UTSW	2	113525862	missense	possibly damaging	0.70
R1558:Fmn1	UTSW	2	113693118	missense	possibly damaging	0.46
R1588:Fmn1	UTSW	2	113365698	missense	unknown
R1602:Fmn1	UTSW	2	113525623	missense	unknown
R1690:Fmn1	UTSW	2	113525482	missense	unknown
R1772:Fmn1	UTSW	2	113365355	missense	unknown
R1867:Fmn1	UTSW	2	113709438	missense	probably damaging	1.00
R1923:Fmn1	UTSW	2	113429721	intron	probably benign
R1941:Fmn1	UTSW	2	113365143	missense	unknown
R2019:Fmn1	UTSW	2	113364480	missense	unknown
R2140:Fmn1	UTSW	2	113595048	missense	probably benign	0.45
R2164:Fmn1	UTSW	2	113365617	missense	unknown
R2395:Fmn1	UTSW	2	113365181	missense	unknown
R2999:Fmn1	UTSW	2	113365094	missense	unknown
R3405:Fmn1	UTSW	2	113364348	missense	unknown
R3407:Fmn1	UTSW	2	113365055	missense	unknown
R3771:Fmn1	UTSW	2	113582118	missense	probably damaging	1.00
R3772:Fmn1	UTSW	2	113582118	missense	probably damaging	1.00
R3773:Fmn1	UTSW	2	113582118	missense	probably damaging	1.00
R3777:Fmn1	UTSW	2	113365122	missense	unknown
R4166:Fmn1	UTSW	2	113636735	missense	probably benign	0.33
R4477:Fmn1	UTSW	2	113444399	intron	probably benign
R4614:Fmn1	UTSW	2	113365149	missense	unknown
R4701:Fmn1	UTSW	2	113584071	missense	possibly damaging	0.76
R4867:Fmn1	UTSW	2	113584120	critical splice donor site	probably null
R5063:Fmn1	UTSW	2	113364921	missense	unknown
R5224:Fmn1	UTSW	2	113365125	missense	unknown
R5510:Fmn1	UTSW	2	113596369	missense	probably damaging	1.00
R6083:Fmn1	UTSW	2	113364303	missense	unknown
R6234:Fmn1	UTSW	2	113365655	missense	unknown
R6266:Fmn1	UTSW	2	113596338	missense	probably damaging	1.00
R6764:Fmn1	UTSW	2	113525215	missense	unknown
R7054:Fmn1	UTSW	2	113365008	missense	unknown
R7311:Fmn1	UTSW	2	113525680	missense	unknown
R7439:Fmn1	UTSW	2	113441611	missense	unknown
R7440:Fmn1	UTSW	2	113441611	missense	unknown
R7441:Fmn1	UTSW	2	113441611	missense	unknown
R7444:Fmn1	UTSW	2	113441611	missense	unknown
R7461:Fmn1	UTSW	2	113364071	missense	unknown
R7526:Fmn1	UTSW	2	113688134	missense	probably damaging	0.99
R7540:Fmn1	UTSW	2	113529310	splice site	probably null
R7576:Fmn1	UTSW	2	113365008	missense	unknown
R7657:Fmn1	UTSW	2	113525193	missense	unknown
R7669:Fmn1	UTSW	2	113365477	missense	unknown
R7841:Fmn1	UTSW	2	113529465	critical splice donor site	probably null
R7924:Fmn1	UTSW	2	113529465	critical splice donor site	probably null
R8041:Fmn1	UTSW	2	113364594	missense	unknown
RF003:Fmn1	UTSW	2	113525786	small insertion	probably benign
RF023:Fmn1	UTSW	2	113525786	small insertion	probably benign
Z1088:Fmn1	UTSW	2	113441925	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- ATACCACCTGTGTGTCCTGTG -3'
(R):5'- GGTGCTACCCAATGTAAATACTGAAC -3'

Sequencing Primer
(F):5'- GTGTGTCCTGTGTCGCCAC -3'
(R):5'- GCGTTGCTTGGGAAGAACC -3'

Posted On

2019-11-12