Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02324:Fmnl1'

288370

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fmnl1

Ensembl Gene

ENSMUSG00000055805

Gene Name

formin-like 1

Synonyms

formin-related gene in leukocytes, 8030453N10Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

IGL02324

Quality Score

Status

Chromosome

Chromosomal Location

103171107-103198901 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103179538 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 51 (D51G)

Ref Sequence

ENSEMBL: ENSMUSP00000151439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042286] [ENSMUST00000107027] [ENSMUST00000218163]

Predicted Effect

probably damaging
Transcript: ENSMUST00000042286
AA Change: D51G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
AA Change: D51G

Domain	Start	End	E-Value	Type
Drf_GBD	27	280	1.04e-87	SMART
Drf_FH3	283	632	2.29e-75	SMART
FH2	627	1057	4.35e-142	SMART
low complexity region	1074	1087	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107027
AA Change: D51G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805
AA Change: D51G

Domain	Start	End	E-Value	Type
Drf_GBD	27	280	1.04e-87	SMART
Drf_FH3	283	632	2.29e-75	SMART
FH2	627	1057	4.35e-142	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126425

Predicted Effect

probably damaging
Transcript: ENSMUST00000218163
AA Change: D51G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Constitutive homozygous KO is embryonic lethal. Conditional homozygous KO in myeloid cells leads to reduced macrophage migration and podosome formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	A	3: 151,497,874	C124S	probably damaging	Het
Aldh1a7	T	C	19: 20,727,004	N42S	probably damaging	Het
Arhgef1	T	C	7: 24,923,815	L667P	probably damaging	Het
C1qb	C	A	4: 136,880,500	R184L	possibly damaging	Het
Cacna1s	A	G	1: 136,075,176		probably benign	Het
Cdk20	A	G	13: 64,437,920	E244G	probably benign	Het
Copg2	C	A	6: 30,863,534		probably null	Het
Cyp2d40	A	T	15: 82,760,948		probably benign	Het
Cyp2j6	A	G	4: 96,525,933	I365T	probably damaging	Het
Dhx29	A	G	13: 112,927,808	K6E	probably damaging	Het
Dpp10	T	A	1: 123,367,802	T539S	probably benign	Het
Ehbp1	A	T	11: 22,096,048	I542K	probably damaging	Het
Fat1	A	G	8: 45,040,556	Y3913C	probably damaging	Het
Flt4	C	T	11: 49,645,995	T1264I	probably benign	Het
Gm17093	A	G	14: 44,518,350	T25A	unknown	Het
Gpatch2	A	G	1: 187,225,739	E97G	probably damaging	Het
Hcn1	T	C	13: 117,902,886	L446P	unknown	Het
Hpse2	A	T	19: 42,931,599	L354I	probably damaging	Het
Hspa4	A	G	11: 53,300,058		probably null	Het
Krtap16-1	C	T	11: 99,986,303	V92M	probably damaging	Het
Med23	A	T	10: 24,897,341	Q281L	probably damaging	Het
Megf8	T	C	7: 25,340,448	S963P	probably benign	Het
Mical1	G	A	10: 41,486,664	E932K	possibly damaging	Het
Mycbp2	A	G	14: 103,242,207	S1217P	probably damaging	Het
Myocd	C	A	11: 65,178,658	L785F	probably benign	Het
Nell2	T	C	15: 95,229,101	T798A	probably damaging	Het
Nfat5	T	C	8: 107,366,176		probably benign	Het
Olfm5	T	C	7: 104,154,095		probably null	Het
Olfr385	A	G	11: 73,589,255	V161A	probably benign	Het
P2ry1	A	T	3: 61,003,778	N113Y	possibly damaging	Het
Pan3	A	G	5: 147,530,123		probably null	Het
Pappa	A	G	4: 65,196,808	R714G	probably damaging	Het
Plcd1	A	G	9: 119,072,642	F579L	probably damaging	Het
Ptprb	T	C	10: 116,319,333	V664A	probably benign	Het
Slc27a5	T	A	7: 12,997,560	Q168L	probably benign	Het
Spag8	T	C	4: 43,651,781	E395G	probably damaging	Het
Stfa2l1	T	C	16: 36,161,768	Y70H	probably damaging	Het
Taf2	T	C	15: 55,028,376	N1017S	probably benign	Het
Tnfrsf25	C	A	4: 152,119,322	Q296K	probably damaging	Het
Trpm3	T	A	19: 22,698,779	I103N	probably benign	Het

Other mutations in Fmnl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Fmnl1	APN	11	103197340	nonsense	probably null
IGL00972:Fmnl1	APN	11	103180955	missense	probably damaging	1.00
IGL01406:Fmnl1	APN	11	103194690	unclassified	probably benign
IGL01417:Fmnl1	APN	11	103196694	unclassified	probably benign
IGL01599:Fmnl1	APN	11	103186656	missense	probably damaging	1.00
IGL02151:Fmnl1	APN	11	103192772	missense	probably benign	0.38
IGL02812:Fmnl1	APN	11	103196766	unclassified	probably benign
IGL03369:Fmnl1	APN	11	103197182	splice site	probably null
R0077:Fmnl1	UTSW	11	103189969	missense	probably damaging	1.00
R0241:Fmnl1	UTSW	11	103182170	critical splice donor site	probably null
R0241:Fmnl1	UTSW	11	103182170	critical splice donor site	probably null
R0413:Fmnl1	UTSW	11	103194063	splice site	probably benign
R1170:Fmnl1	UTSW	11	103197370	missense	probably benign	0.02
R1389:Fmnl1	UTSW	11	103186709	splice site	probably null
R1794:Fmnl1	UTSW	11	103197147	missense	probably benign	0.00
R2082:Fmnl1	UTSW	11	103192025	missense	probably damaging	1.00
R2105:Fmnl1	UTSW	11	103194692	missense	probably benign	0.39
R3611:Fmnl1	UTSW	11	103194765	unclassified	probably benign
R3883:Fmnl1	UTSW	11	103182114	missense	probably damaging	1.00
R3893:Fmnl1	UTSW	11	103196757	unclassified	probably benign
R4658:Fmnl1	UTSW	11	103197694	missense	probably damaging	1.00
R4689:Fmnl1	UTSW	11	103193736	critical splice donor site	probably null
R4812:Fmnl1	UTSW	11	103198564	unclassified	probably benign
R4996:Fmnl1	UTSW	11	103182656	missense	possibly damaging	0.58
R5646:Fmnl1	UTSW	11	103196512	unclassified	probably benign
R5702:Fmnl1	UTSW	11	103185665	missense	probably damaging	1.00
R5850:Fmnl1	UTSW	11	103195285	unclassified	probably benign
R5903:Fmnl1	UTSW	11	103171444	splice site	probably null
R6254:Fmnl1	UTSW	11	103196315	unclassified	probably benign
R6958:Fmnl1	UTSW	11	103171314	start codon destroyed	probably null	1.00
R7030:Fmnl1	UTSW	11	103194774	unclassified	probably benign
R7133:Fmnl1	UTSW	11	103181784	critical splice donor site	probably null
R7171:Fmnl1	UTSW	11	103190398	missense	probably damaging	1.00
R7224:Fmnl1	UTSW	11	103182769	critical splice donor site	probably null
R7282:Fmnl1	UTSW	11	103196265	missense	unknown
R7448:Fmnl1	UTSW	11	103186627	missense	probably damaging	1.00
R7463:Fmnl1	UTSW	11	103193128	missense	probably damaging	1.00
R7831:Fmnl1	UTSW	11	103198173	missense	unknown
R7862:Fmnl1	UTSW	11	103180930	missense	probably damaging	1.00
R7973:Fmnl1	UTSW	11	103171158	start gained	probably benign
R8177:Fmnl1	UTSW	11	103189959	missense	probably damaging	0.98
R8273:Fmnl1	UTSW	11	103186699	missense	probably damaging	1.00
R8345:Fmnl1	UTSW	11	103186614	missense	possibly damaging	0.88
R8507:Fmnl1	UTSW	11	103194033	missense	unknown

Posted On

2015-04-16