Mutagenetix > Incidental Mutations

Incidental Mutation 'R5646:Fmnl1'

441177

Institutional Source

Beutler Lab

Gene Symbol

Fmnl1

Ensembl Gene

ENSMUSG00000055805

Gene Name

formin-like 1

Synonyms

formin-related gene in leukocytes, 8030453N10Rik

MMRRC Submission

043294-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5646 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103171107-103198901 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 103196512 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134292 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021323] [ENSMUST00000042286] [ENSMUST00000107026] [ENSMUST00000107027] [ENSMUST00000129726] [ENSMUST00000172850] [ENSMUST00000174567] [ENSMUST00000218163]

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: S894G

SMART Domains

Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
AA Change: S894G

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: S894G

SMART Domains

Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805
AA Change: S894G

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

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: ENSMUST00000140559

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

probably benign
Transcript: ENSMUST00000174567

SMART Domains

Protein: ENSMUSP00000134292
Gene: ENSMUSG00000020940

Domain	Start	End	E-Value	Type
SCOP:d1mr8a_	153	209	5e-8	SMART
Blast:EFh	159	187	4e-12	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000218163
AA Change: S900G

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	G	10: 82,283,776	S4467P	probably damaging	Het
Add1	C	A	5: 34,630,680	A691D	probably benign	Het
Agap3	C	A	5: 24,483,397	D394E	probably benign	Het
Arhgef11	T	C	3: 87,684,486	V59A	possibly damaging	Het
Atp2a1	A	G	7: 126,453,105	V402A	probably benign	Het
Bbs9	T	C	9: 22,578,715	F261L	probably benign	Het
Bsn	A	T	9: 108,110,432		probably benign	Het
Camk1	A	G	6: 113,339,340	V81A	probably damaging	Het
Cass4	T	G	2: 172,416,245	C54W	probably damaging	Het
Ccdc39	A	T	3: 33,825,550	F456L	probably damaging	Het
Cdc42bpa	A	G	1: 180,106,094	E766G	probably damaging	Het
Cdcp2	T	C	4: 107,105,142	C171R	probably damaging	Het
Cdh9	G	A	15: 16,823,285	E118K	probably damaging	Het
Col4a2	G	A	8: 11,441,281	G1227R	probably damaging	Het
Cyp2d9	A	G	15: 82,452,464	T5A	probably benign	Het
Dlg5	T	A	14: 24,158,699	D813V	probably damaging	Het
Dmtf1	G	A	5: 9,124,515	S405F	possibly damaging	Het
Drd2	A	G	9: 49,404,912	K324R	probably benign	Het
Ergic1	T	C	17: 26,614,358	S29P	probably damaging	Het
Foxd2	C	T	4: 114,908,635	A63T	unknown	Het
Gfap	T	C	11: 102,891,456	I409M	probably benign	Het
Gfpt1	A	G	6: 87,042,999	M1V	probably null	Het
H2-T23	C	G	17: 36,031,803	E148Q	possibly damaging	Het
Hip1	G	A	5: 135,428,741	R704W	probably damaging	Het
Kif19a	A	C	11: 114,779,654	D130A	probably damaging	Het
Lin7b	T	C	7: 45,369,193	D14G	probably damaging	Het
Meioc	T	A	11: 102,675,257	N510K	possibly damaging	Het
Mettl5	C	A	2: 69,881,319	G68*	probably null	Het
Mitf	A	T	6: 98,013,694	I184F	probably damaging	Het
Mmp9	T	A	2: 164,949,050	H119Q	probably benign	Het
Mycbp2	T	A	14: 103,169,910	H2768L	probably benign	Het
Myh2	A	T	11: 67,188,812	I1032F	probably benign	Het
Myo3b	T	C	2: 70,314,430	I1110T	probably damaging	Het
Nde1	T	C	16: 14,169,514	F8L	probably damaging	Het
Olfr1317	T	C	2: 112,142,683	V246A	possibly damaging	Het
Olfr202	C	T	16: 59,283,979	V173I	probably benign	Het
Olfr432	C	T	1: 174,051,287	Q305*	probably null	Het
Olfr447	A	G	6: 42,911,523		probably null	Het
Olfr550	A	C	7: 102,579,305	Y270S	possibly damaging	Het
Olfr753-ps1	T	C	17: 37,169,917	I244V	probably benign	Het
Olfr771	T	C	10: 129,160,837	D49G	possibly damaging	Het
Pcdhga8	A	G	18: 37,726,770	H293R	probably benign	Het
Pde7a	A	T	3: 19,233,773	L244Q	probably damaging	Het
Pex14	T	C	4: 148,961,453	D340G	probably benign	Het
Pfkfb4	A	T	9: 109,008,421	I195F	probably damaging	Het
Pik3c2a	C	A	7: 116,405,951	G361W	probably damaging	Het
Prkcg	T	A	7: 3,329,081	M517K	probably damaging	Het
Prob1	A	T	18: 35,654,114	F362L	probably benign	Het
Rims4	C	T	2: 163,864,017	W232*	probably null	Het
Robo2	T	C	16: 73,961,819	D688G	probably damaging	Het
Sec24c	C	A	14: 20,679,573	A73E	probably benign	Het
Slc15a3	A	G	19: 10,843,210	N64D	probably benign	Het
Smg1	A	T	7: 118,212,559	N65K	probably benign	Het
Sptb	G	T	12: 76,587,441	D2165E	probably benign	Het
Sptbn5	A	T	2: 120,048,811		noncoding transcript	Het
Syt12	A	T	19: 4,456,541	M192K	possibly damaging	Het
Tas2r107	A	G	6: 131,659,708	V126A	probably benign	Het
Thbs3	T	C	3: 89,219,098	L242P	probably damaging	Het
Timp2	A	T	11: 118,317,532		probably null	Het
Tmtc1	G	A	6: 148,246,831	A751V	probably damaging	Het
Tnni2	A	T	7: 142,443,913	D85V	probably damaging	Het
Ttc39b	G	A	4: 83,244,070	P319L	probably damaging	Het
Ttc6	A	T	12: 57,576,019	K68M	probably damaging	Het
Usp25	G	A	16: 77,050,472	R156Q	probably benign	Het
Vill	A	T	9: 119,071,162	D365V	probably damaging	Het
Vmn1r65	T	A	7: 6,009,224	T4S	probably benign	Het
Vmn2r76	C	A	7: 86,226,053	C572F	probably damaging	Het
Vps26a	A	C	10: 62,468,298	N181K	probably damaging	Het
Xirp2	T	C	2: 67,510,790	L1125P	probably damaging	Het
Zbtb41	T	G	1: 139,423,763	S205A	probably benign	Het
Zfp438	T	C	18: 5,214,526	D144G	probably benign	Het
Zfp600	T	C	4: 146,195,100	S113P	probably damaging	Het
Zfp84	C	T	7: 29,776,393	T170M	probably benign	Het
Zmiz2	T	A	11: 6,402,837	D654E	probably damaging	Het
Zswim4	A	T	8: 84,231,110		probably null	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- CCTATGGTTTCCGACTTCAGAG -3'
(R):5'- TCATCTTGCCGCACAAACTC -3'

Sequencing Primer
(F):5'- ACTTCAGAGTCTGGATGCGG -3'
(R):5'- GCACAAACTCTCTCTGCGTCAG -3'

Posted On

2016-11-08