Mutagenetix > Incidental Mutations

Incidental Mutation 'R7973:Fmnl1'

650729

Institutional Source

Beutler Lab

Gene Symbol

Fmnl1

Ensembl Gene

ENSMUSG00000055805

Gene Name

formin-like 1

Synonyms

formin-related gene in leukocytes, 8030453N10Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R7973 (G1)

Quality Score

83.0076

Status

Not validated

Chromosome

Chromosomal Location

103171107-103198901 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

G to T at 103171158 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151439 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000042286

SMART Domains

Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805

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: ENSMUST00000107027

SMART Domains

Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805

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: ENSMUST00000218163

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (53/54)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016L21Rik	A	G	5: 114,946,053	D76G	probably benign	Het
Abcg1	T	C	17: 31,104,158	V237A	probably damaging	Het
Adgrv1	A	T	13: 81,440,225	V4414E	possibly damaging	Het
Akap11	A	T	14: 78,515,066	H122Q		Het
Amotl2	C	T	9: 102,723,769	T345I	probably benign	Het
Arhgef4	C	T	1: 34,724,437	R925W	possibly damaging	Het
Arid1a	C	T	4: 133,753,070	G181D	probably damaging	Het
Ash1l	T	A	3: 89,052,857	S2299T	probably benign	Het
Atf7ip	C	T	6: 136,561,064	Q432*	probably null	Het
B430306N03Rik	T	A	17: 48,316,455	S10T	probably benign	Het
Bckdk	A	G	7: 127,906,367	I221V	probably benign	Het
Brinp2	T	C	1: 158,246,487	Y688C	probably damaging	Het
Caml	C	T	13: 55,631,971	L286F	probably benign	Het
Ccdc125	C	T	13: 100,669,823		probably benign	Het
Cdh24	A	T	14: 54,639,020	V116E	possibly damaging	Het
Cenpe	T	A	3: 135,223,250	I305N	probably damaging	Het
Cep41	C	T	6: 30,680,131	G33S	probably damaging	Het
Clec4b2	A	T	6: 123,204,189	I178L	probably benign	Het
Dao	AGG	AG	5: 114,015,209		probably benign	Het
Dapk1	T	A	13: 60,761,563	L1330Q	probably damaging	Het
Evl	C	T	12: 108,681,524	R295*	probably null	Het
Galk1	A	G	11: 116,012,609	F24L	possibly damaging	Het
Hyal4	T	A	6: 24,755,786	M1K	probably null	Het
Ighe	T	C	12: 113,273,057	T64A		Het
Iqch	A	G	9: 63,524,946	I389T	possibly damaging	Het
Ism2	G	T	12: 87,286,995	T92K	possibly damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,436,913		probably benign	Het
Kdm1b	T	C	13: 47,077,446	S650P	probably benign	Het
Mapkapk5	T	G	5: 121,525,713	N426T	possibly damaging	Het
Mroh5	G	T	15: 73,792,765	Y90*	probably null	Het
Ncan	T	G	8: 70,097,575	I1184L	probably benign	Het
Nectin3	T	C	16: 46,396,121	T439A	probably benign	Het
Neo1	G	T	9: 58,990,193	A160E	probably damaging	Het
Nosip	T	C	7: 45,077,360	S295P	possibly damaging	Het
Nup205	T	A	6: 35,245,339	F1979L	probably benign	Het
Nxpe2	A	T	9: 48,319,868	D400E	probably damaging	Het
Olfr1246	T	A	2: 89,590,987	I43F	probably damaging	Het
Pfkfb4	G	A	9: 109,025,111	R351Q	probably damaging	Het
Psg29	T	C	7: 17,210,537	I324T	probably benign	Het
Ptprh	G	T	7: 4,580,888	T235N	possibly damaging	Het
Ralgapa2	T	A	2: 146,388,561	N981I	possibly damaging	Het
Ralgps1	T	C	2: 33,146,639	Y421C	probably damaging	Het
Sf3b3	T	C	8: 110,816,290	E845G	possibly damaging	Het
Sgk1	G	T	10: 21,994,155	S31I	probably benign	Het
Sim1	T	G	10: 50,981,323	Y390D	probably damaging	Het
Slain2	T	A	5: 72,955,436	Y271*	probably null	Het
Slc12a4	G	A	8: 105,951,605	R319W	possibly damaging	Het
St6gal1	G	A	16: 23,357,835	A393T	probably benign	Het
Stab1	A	T	14: 31,159,633		probably null	Het
Supv3l1	A	T	10: 62,449,423	L88Q	probably damaging	Het
Syt2	C	A	1: 134,740,832		probably null	Het
Tpr	C	T	1: 150,403,887	R256C	probably damaging	Het
Tubg1	G	T	11: 101,124,028	A199S	probably benign	Het
Usp32	A	G	11: 85,022,808	I899T	probably damaging	Het
Usp6nl	G	T	2: 6,408,951	R96M	probably damaging	Het
Vmn1r75	A	G	7: 11,881,034	D231G	probably benign	Het
Vmn2r42	T	C	7: 8,194,873	E249G	probably benign	Het
Zbtb34	C	T	2: 33,411,519	G337R	probably benign	Het
Zfp457	T	A	13: 67,293,818	H231L	probably benign	Het
Zfp715	C	T	7: 43,299,897	G213D	possibly damaging	Het
Zfp760	T	G	17: 21,722,103	H86Q	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
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
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
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'- AGAGCTGCGGTTCTAGGACC -3'
(R):5'- GCGCATCAGGTCACACTCAC -3'

Sequencing Primer
(F):5'- CGGAGAACTGCGGTTTGC -3'
(R):5'- GCGTGAACCTCTCCTCCAG -3'

Posted On

2020-09-15