Mutagenetix > Incidental Mutations

Incidental Mutation 'R4996:Fmnl1'

385279

Institutional Source

Beutler Lab

Gene Symbol

Fmnl1

Ensembl Gene

ENSMUSG00000055805

Gene Name

formin-like 1

Synonyms

formin-related gene in leukocytes, 8030453N10Rik

MMRRC Submission

042590-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4996 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103171107-103198901 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103182656 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 167 (S167N)

Ref Sequence

ENSEMBL: ENSMUSP00000046296 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042286
AA Change: S167N

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
AA Change: S167N

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
AA Change: S167N

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805
AA Change: S167N

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

noncoding transcript
Transcript: ENSMUST00000154871

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218163
AA Change: S167N

PolyPhen 2 Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.5%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
Actl11	A	G	9: 107,931,735	I1086V	possibly damaging	Het
Adgrv1	T	C	13: 81,578,734	S500G	probably benign	Het
Ahcyl1	A	T	3: 107,668,287	V394E	probably damaging	Het
Alg9	T	C	9: 50,808,705	F494L	probably damaging	Het
Ankrd55	C	A	13: 112,356,088	D264E	possibly damaging	Het
Asb14	A	G	14: 26,912,116	N426S	possibly damaging	Het
Atm	A	T	9: 53,524,507	F168I	probably benign	Het
Atp13a4	A	T	16: 29,472,004	I209N	probably damaging	Het
BB014433	A	T	8: 15,042,166	L229Q	probably benign	Het
C130026I21Rik	G	T	1: 85,247,094	A240E	probably benign	Het
Calml3	T	C	13: 3,804,142	D21G	probably damaging	Het
Capn10	A	G	1: 92,945,136	N528S	probably damaging	Het
Ccnl2	T	A	4: 155,813,524	D141E	possibly damaging	Het
Cd163	A	G	6: 124,319,147	I817V	probably benign	Het
Cgnl1	CTTGCCCAGGTT	CTT	9: 71,724,826		probably benign	Het
Cln6	T	A	9: 62,850,655	I232N	probably damaging	Het
Col22a1	A	C	15: 72,007,161	V49G	probably damaging	Het
Csmd1	A	T	8: 15,910,452	M3321K	probably damaging	Het
Cyp2u1	T	A	3: 131,298,284	M196L	probably benign	Het
Dlec1	T	G	9: 119,146,050	L1566R	probably damaging	Het
Dnajc3	A	G	14: 118,972,427	T305A	probably benign	Het
Drp2	G	A	X: 134,441,316	R567H	probably damaging	Homo
Efhd1	G	T	1: 87,264,558	G37W	possibly damaging	Het
Exph5	G	C	9: 53,375,610	E1330D	possibly damaging	Het
Fam207a	A	T	10: 77,515,533	W14R	probably null	Het
Fbln2	A	T	6: 91,266,010	Y913F	probably benign	Het
Frs3	A	G	17: 47,701,710	E114G	probably damaging	Het
Gm960	T	A	19: 4,626,084	K673N	probably benign	Het
Gmpr2	T	C	14: 55,676,795	I169T	probably damaging	Het
Gria2	A	G	3: 80,707,141	S531P	probably damaging	Het
Hace1	G	A	10: 45,649,950	A296T	probably benign	Het
Hrasls	G	A	16: 29,217,704	W31*	probably null	Het
Inhbb	A	C	1: 119,420,818	L90R	probably damaging	Het
Insr	C	T	8: 3,192,665	R18Q	probably null	Het
Kdm6b	G	T	11: 69,405,731	P570Q	probably damaging	Het
Lama3	T	C	18: 12,518,743	V1803A	probably benign	Het
Lpin3	T	A	2: 160,905,287	L811Q	probably damaging	Het
Lrrc8e	C	T	8: 4,235,166	L464F	probably damaging	Het
Micall2	A	G	5: 139,710,589	S729P	probably benign	Het
Naca	C	T	10: 128,042,429		probably benign	Het
Nav1	A	T	1: 135,465,971	S1010T	probably damaging	Het
Nefm	T	C	14: 68,121,121		probably benign	Het
Nlrp9c	A	T	7: 26,385,747	F136I	possibly damaging	Het
Nup210	A	T	6: 91,053,436	F137Y	probably benign	Het
Olfr1079	T	C	2: 86,538,271	I215V	probably benign	Het
Olfr402	A	G	11: 74,155,331	H59R	probably damaging	Het
Olfr98	A	G	17: 37,262,867	S266P	probably benign	Het
Otog	C	A	7: 46,298,606	H2344N	possibly damaging	Het
Otog	C	A	7: 46,305,510	C517*	probably null	Het
Pcdhac1	C	T	18: 37,092,527	Q798*	probably null	Het
Pdhx	T	C	2: 103,030,312	D330G	probably damaging	Het
Peg10	ACATCAGGATCC	ACATCAGGATCCCCATCAGGATCC	6: 4,756,454		probably benign	Het
Pgr	C	A	9: 8,900,913	P149Q	probably damaging	Het
Ppm1h	A	T	10: 122,941,340	I504F	probably damaging	Het
Ppp6r3	A	G	19: 3,473,833	S556P	probably damaging	Het
Ranbp9	G	A	13: 43,425,094	Q168*	probably null	Het
Relb	A	T	7: 19,615,603	L259Q	probably benign	Het
Rfx5	G	A	3: 94,955,815	V73I	probably benign	Het
Rgcc	T	C	14: 79,290,276	D125G	possibly damaging	Het
Rmnd5b	A	G	11: 51,627,908	V86A	probably damaging	Het
Slc15a5	G	A	6: 138,043,585	T250M	probably damaging	Het
Slc7a2	A	T	8: 40,912,562	K477*	probably null	Het
Smc2	T	A	4: 52,461,042		probably null	Het
Sox5	A	T	6: 144,028,344	L226*	probably null	Het
Syne2	A	G	12: 75,943,950	E1903G	possibly damaging	Het
Tenm3	A	T	8: 48,235,826	I2226N	probably damaging	Het
Tmtc3	A	T	10: 100,447,224	I823N	probably damaging	Het
Tor3a	T	C	1: 156,655,772	Y360C	probably damaging	Het
Trpc3	T	C	3: 36,662,818	E357G	probably benign	Het
Ttc30a1	C	T	2: 75,979,922	G606S	probably benign	Het
Tubgcp6	A	T	15: 89,103,490	N1093K	possibly damaging	Het
Vmn1r64	T	A	7: 5,884,053	T164S	probably benign	Het
Vmn2r40	T	A	7: 8,908,167	Q709L	probably damaging	Het
Vmn2r81	A	T	10: 79,293,413	I713L	probably benign	Het
Washc5	T	C	15: 59,333,635	T686A	probably benign	Het
Wipf1	GCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCC	2: 73,440,074		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
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

Predicted Primers

PCR Primer
(F):5'- CCTCACTGTGCTCACCATAG -3'
(R):5'- TGTTTACATGTGGCAACGGG -3'

Sequencing Primer
(F):5'- GCCTGATCTACATAATGAGAGCCTG -3'
(R):5'- CAACGGGGGTCTCTGTTCTC -3'

Posted On

2016-05-10