Mutagenetix > Incidental Mutation

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: 0.108) 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 (GRCm38)

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]

AlphaFold

Q9JL26

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
archetypal	UTSW	11	103186627	missense	probably damaging	1.00
contractual	UTSW	11	103180915	missense	probably damaging	1.00
stylistic	UTSW	11	103193736	critical splice donor 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
R8921:Fmnl1	UTSW	11	103197141	missense	unknown
R8946:Fmnl1	UTSW	11	103180915	missense	probably damaging	1.00
R8968:Fmnl1	UTSW	11	103186618	small deletion	probably benign
R9114:Fmnl1	UTSW	11	103196501	missense	unknown

Posted On

2015-04-16