Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01406:Fmnl1'

79817

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

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

IGL01406

Quality Score

Status

Chromosome

Chromosomal Location

103171107-103198901 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 103194690 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021323] [ENSMUST00000042286] [ENSMUST00000107026] [ENSMUST00000107027] [ENSMUST00000129726] [ENSMUST00000172850] [ENSMUST00000218163]

AlphaFold

Q9JL26

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000021322

Predicted Effect

probably benign
Transcript: ENSMUST00000021323

SMART Domains

Protein: ENSMUSP00000021323
Gene: ENSMUSG00000020940

Domain	Start	End	E-Value	Type
EFh	109	137	7.23e1	SMART
EFh	145	173	6.68e-1	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000042286
AA Change: I687T

SMART Domains

Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
AA Change: I687T

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 benign
Transcript: ENSMUST00000107026

SMART Domains

Protein: ENSMUSP00000102641
Gene: ENSMUSG00000020940

Domain	Start	End	E-Value	Type
EFh	40	68	7.23e1	SMART
EFh	76	104	6.68e-1	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000107027
AA Change: I687T

SMART Domains

Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805
AA Change: I687T

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 benign
Transcript: ENSMUST00000129726

SMART Domains

Protein: ENSMUSP00000133299
Gene: ENSMUSG00000055805

Domain	Start	End	E-Value	Type
Pfam:FH2	1	50	8.2e-10	PFAM
low complexity region	124	139	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154871

Predicted Effect

probably benign
Transcript: ENSMUST00000172850

SMART Domains

Protein: ENSMUSP00000139837
Gene: ENSMUSG00000020940

Domain	Start	End	E-Value	Type
EFh	109	137	3.5e-1	SMART
EFh	145	173	3.2e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174079

Predicted Effect

unknown
Transcript: ENSMUST00000218163
AA Change: I693T

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	G	A	5: 8,130,212	Q558*	probably null	Het
Adam29	A	T	8: 55,871,839	Y527N	probably damaging	Het
Atm	T	C	9: 53,439,746	*3067W	probably null	Het
B3galt2	A	T	1: 143,647,106	I327L	possibly damaging	Het
Cadm2	C	A	16: 66,815,304		probably null	Het
Cd6	G	T	19: 10,791,137	A496E	possibly damaging	Het
Cdh16	A	T	8: 104,618,412	I415N	possibly damaging	Het
Ces1b	T	C	8: 93,071,994	N188S	probably damaging	Het
Col4a1	T	C	8: 11,218,898	D980G	probably damaging	Het
Dmgdh	G	A	13: 93,687,031		probably benign	Het
Emb	A	T	13: 117,268,930	D296V	probably damaging	Het
Fbln2	T	C	6: 91,266,392	S917P	probably damaging	Het
Frem2	T	C	3: 53,525,896	Y2669C	probably damaging	Het
Gm3115	T	A	14: 4,087,137		probably benign	Het
Hnf1b	C	T	11: 83,889,124	P402S	probably benign	Het
Il7r	T	A	15: 9,508,214	R341*	probably null	Het
Krt75	T	C	15: 101,568,025	Y435C	probably damaging	Het
Malrd1	G	A	2: 16,101,957		probably null	Het
Musk	T	C	4: 58,367,539	Y578H	probably damaging	Het
Naa20	A	G	2: 145,915,806		probably null	Het
Ncoa7	T	C	10: 30,690,840	D565G	probably damaging	Het
Pgap1	C	T	1: 54,533,414		probably null	Het
Plekha5	G	A	6: 140,572,950	R172H	probably damaging	Het
Snx17	A	G	5: 31,195,994	Y77C	probably damaging	Het
Spdye4b	C	T	5: 143,202,411	P220S	probably benign	Het
Tbx18	T	A	9: 87,713,543	D326V	probably damaging	Het
Tlr12	A	T	4: 128,616,339	L706*	probably null	Het
Tnfrsf21	T	A	17: 43,037,946	C150S	probably damaging	Het
Togaram1	A	G	12: 64,995,578	D1187G	possibly damaging	Het
Trav5-1	T	C	14: 52,622,987	L83P	probably damaging	Het
Vmn2r75	T	A	7: 86,163,292		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
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
IGL02324:Fmnl1	APN	11	103179538	missense	probably damaging	1.00
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
R9696:Fmnl1	UTSW	11	103195471	missense	unknown

Posted On

2013-11-05