Mutagenetix > Incidental Mutation

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: 0.173) 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 (GRCm38)

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]

AlphaFold

Q9JL26

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: 46,305,510	C517*	probably null	Het
Otog	C	A	7: 46,298,606	H2344N	possibly damaging	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
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
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

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