Mutagenetix > Incidental Mutation

Incidental Mutation 'R6958:Fmnl1'

541596

Institutional Source

Beutler Lab

Gene Symbol

Fmnl1

Ensembl Gene

ENSMUSG00000055805

Gene Name

formin-like 1

Synonyms

formin-related gene in leukocytes, 8030453N10Rik

MMRRC Submission

045009-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R6958 (G1)

Quality Score

119.008

Status

Not validated

Chromosome

Chromosomal Location

103171107-103198901 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 103171314 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000151439 (fasta)

Gene Model

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

AlphaFold

Q9JL26

Predicted Effect

probably null
Transcript: ENSMUST00000042286
AA Change: M1K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
AA Change: M1K

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 null
Transcript: ENSMUST00000107027
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805
AA Change: M1K

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 null
Transcript: ENSMUST00000218163
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.9%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	A	G	3: 145,943,803	D159G	probably benign	Het
Ahnak	A	G	19: 9,015,215	N4621S	possibly damaging	Het
Ankrd16	C	T	2: 11,779,793	A144V	probably damaging	Het
BC080695	A	T	4: 143,571,259	D83V	probably damaging	Het
Ccdc14	T	C	16: 34,690,806	V2A	probably damaging	Het
Ccdc187	C	T	2: 26,289,719	V243I	probably benign	Het
Cdk12	A	T	11: 98,241,699	I985F	unknown	Het
Cfap65	T	C	1: 74,931,899	T87A	possibly damaging	Het
Cilp2	G	A	8: 69,882,540	P603S	probably benign	Het
Cntnap5b	A	G	1: 100,274,472	E348G	probably benign	Het
Cpa6	C	T	1: 10,595,688	V42M	probably damaging	Het
Cpsf4	A	G	5: 145,175,592	I115V	probably benign	Het
Dnah11	G	T	12: 117,933,809	P3562Q	probably damaging	Het
Dnah9	A	G	11: 66,076,341	F1664L	probably damaging	Het
Dpysl3	T	C	18: 43,438,002	Q69R	probably benign	Het
Dusp27	T	A	1: 166,107,996	D211V	probably damaging	Het
Ebf3	T	C	7: 137,199,265	T455A	possibly damaging	Het
Eif2ak3	T	A	6: 70,892,683	C785S	probably benign	Het
Elk4	T	A	1: 132,017,832	F149L	probably damaging	Het
Fgf14	A	G	14: 124,676,597	W41R	probably benign	Het
Foxk2	A	T	11: 121,299,737	Q568L	probably benign	Het
Fryl	T	G	5: 73,073,929	I1602L	possibly damaging	Het
Gfm2	A	G	13: 97,146,236	I75V	probably damaging	Het
Gm3233	T	A	10: 77,759,535		probably benign	Het
Gm5096	G	A	18: 87,756,922	E190K	probably benign	Het
Gnb1	G	T	4: 155,543,194		probably null	Het
Gphn	G	T	12: 78,680,299	V662L	possibly damaging	Het
Il3	A	C	11: 54,267,111	V47G	probably benign	Het
Iqgap3	A	G	3: 88,113,366	D401G	possibly damaging	Het
Kdm3b	T	A	18: 34,808,283	S276T	probably benign	Het
Krtap6-2	A	G	16: 89,419,810	S90P	unknown	Het
Lars	C	T	18: 42,236,639	V394I	probably damaging	Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Lrp10	A	G	14: 54,469,821		probably benign	Het
Ltn1	A	T	16: 87,397,791	C1407S	probably benign	Het
Lzts2	G	T	19: 45,024,143		probably benign	Het
Msantd2	A	G	9: 37,523,457	E331G	probably damaging	Het
Myo15	G	A	11: 60,503,625	G1218S	probably benign	Het
Myom2	G	A	8: 15,117,741	A1109T	probably null	Het
Nhp2	A	G	11: 51,623,107	T118A	probably benign	Het
Nup155	A	G	15: 8,147,154	Y972C	probably damaging	Het
Nxpe2	A	T	9: 48,326,266	C230S	probably damaging	Het
Olfr103	T	C	17: 37,336,417	I272V	probably benign	Het
Olfr1151	T	C	2: 87,857,951	Y259H	probably damaging	Het
Olfr577	A	G	7: 102,973,884	L36P	possibly damaging	Het
Pfkfb4	A	T	9: 109,010,547	N244I	probably damaging	Het
Pi4ka	C	T	16: 17,325,227	R24Q	probably damaging	Het
Pkd2l2	C	A	18: 34,409,490	Y8*	probably null	Het
Ptprb	T	A	10: 116,277,248	N44K	probably benign	Het
Sds	G	A	5: 120,481,472	V149M	probably damaging	Het
Slc22a30	A	G	19: 8,386,701	F204L	probably damaging	Het
Slc26a7	C	T	4: 14,506,442	A636T	probably benign	Het
Slc27a1	C	T	8: 71,585,439	A577V	possibly damaging	Het
Spata13	A	T	14: 60,751,851	T319S	possibly damaging	Het
Tdrd3	A	G	14: 87,457,096	D29G	probably damaging	Het
Tex15	A	T	8: 33,570,871	I110L	probably benign	Het
Treml2	A	G	17: 48,308,152	T222A	probably damaging	Het
Trpd52l3	A	T	19: 30,004,146	L100F	probably damaging	Het
Ttf2	C	T	3: 100,945,932	E975K	probably benign	Het
Vmn1r193	T	A	13: 22,219,974		probably benign	Het
Xpo1	A	G	11: 23,285,855	T648A	probably benign	Het
Zfp641	C	T	15: 98,292,951	V71I	possibly damaging	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
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
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'- AGTTCGAAAATCGCCGAGG -3'
(R):5'- AAGATGACAGTGTTACTCCTACCC -3'

Sequencing Primer
(F):5'- AACCCTACTTCCTCCCCGAG -3'
(R):5'- TGGACCAGGGATCTCCAAG -3'

Posted On

2018-11-28