Mutagenetix > Incidental Mutation

Incidental Mutation 'R8921:Fmnl1'

679271

Institutional Source

Beutler Lab

Gene Symbol

Fmnl1

Ensembl Gene

ENSMUSG00000055805

Gene Name

formin-like 1

Synonyms

formin-related gene in leukocytes, 8030453N10Rik

MMRRC Submission

068707-MU

Accession Numbers

Essential gene?

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

Stock #

R8921 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103171107-103198901 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103197141 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 981 (F981L)

Ref Sequence

ENSEMBL: ENSMUSP00000046296 (fasta)

Gene Model

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

AlphaFold

Q9JL26

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: F981L

SMART Domains

Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
AA Change: F981L

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: F981L

SMART Domains

Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805
AA Change: F981L

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 damaging
Transcript: ENSMUST00000129726
AA Change: F38L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133299
Gene: ENSMUSG00000055805
AA Change: F38L

Domain	Start	End	E-Value	Type
Pfam:FH2	1	50	8.2e-10	PFAM
low complexity region	124	139	N/A	INTRINSIC

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

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: F987L

Meta Mutation Damage Score

0.8596

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (79/79)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	T	A	11: 3,894,933	E52V	probably benign	Het
4930516K23Rik	G	A	7: 104,058,876	T242M	probably damaging	Het
Abcg5	T	A	17: 84,682,825	I17F	probably benign	Het
Adam25	T	A	8: 40,754,673	Y325*	probably null	Het
Adamts16	C	T	13: 70,791,791		probably benign	Het
Akr1b3	A	T	6: 34,312,704	V57E	probably benign	Het
Api5	A	G	2: 94,425,029	L267P	probably damaging	Het
Asap3	T	C	4: 136,236,415	Y329H	probably benign	Het
Atp13a4	C	T	16: 29,454,774	R442K		Het
Cadps2	T	C	6: 23,302,301	D1129G	probably benign	Het
Cd79b	T	A	11: 106,312,806	Q145L	probably benign	Het
Cdh23	C	T	10: 60,305,129	E3147K	probably damaging	Het
Col4a4	A	G	1: 82,453,812	W1584R	unknown	Het
Cops8	T	C	1: 90,604,433	L46P	probably damaging	Het
Cpne1	T	C	2: 156,072,045	Y146C	probably benign	Het
Ctdnep1	T	A	11: 69,984,485	V80E	probably damaging	Het
Cttnbp2	A	G	6: 18,434,878	I327T	probably benign	Het
Cyp4a32	T	C	4: 115,611,263	V314A	probably damaging	Het
Dlgap3	C	A	4: 127,233,670	H710Q	probably damaging	Het
Dnah9	T	C	11: 65,911,921	M3448V	probably benign	Het
E030018B13Rik	C	A	7: 63,919,979	Q84K	unknown	Het
Efna5	A	G	17: 62,881,058	S25P	possibly damaging	Het
Egfl8	T	G	17: 34,614,777	T76P	probably damaging	Het
Endod1	A	G	9: 14,357,646	L181P	probably damaging	Het
Epha3	A	G	16: 63,652,475	L349P	possibly damaging	Het
Fam161b	T	A	12: 84,348,282	T553S	probably benign	Het
Galr2	T	A	11: 116,283,147	V201E	probably damaging	Het
Gm10436	T	C	12: 88,177,182	E295G	probably benign	Het
Gm13023	C	T	4: 143,792,752	Q28*	probably null	Het
Gpr137b	T	C	13: 13,359,406	Y355C		Het
Greb1l	T	C	18: 10,541,825	S1191P	probably benign	Het
Hmg20b	T	C	10: 81,348,987	R84G	probably damaging	Het
Inppl1	T	C	7: 101,823,386	D1234G	possibly damaging	Het
Insl5	A	G	4: 103,026,563	S54P	probably damaging	Het
Itpr1	T	A	6: 108,378,198	F483L	possibly damaging	Het
Kif21a	T	C	15: 90,971,727	E609G	probably benign	Het
Kpna7	A	T	5: 145,005,030	V150D	probably damaging	Het
L1td1	T	A	4: 98,733,938	C246S	possibly damaging	Het
Laptm4a	T	A	12: 8,938,139	M292K	possibly damaging	Het
Lefty2	C	G	1: 180,897,478	P258A	possibly damaging	Het
Map4k1	G	A	7: 29,001,627	V719M	probably damaging	Het
Nbas	T	A	12: 13,413,589	H1292Q	probably benign	Het
Nfkbia	C	T	12: 55,490,555	G250S	probably damaging	Het
Nkain3	T	C	4: 20,245,902	T163A	unknown	Het
Npcd	T	C	15: 79,828,962	E88G	probably benign	Het
Oas1f	A	T	5: 120,851,493	Y165F	probably benign	Het
Olfr589	T	C	7: 103,155,453	D98G	probably benign	Het
Olfr611	A	G	7: 103,517,823	I187T	possibly damaging	Het
Olfr963	T	A	9: 39,669,441	L128*	probably null	Het
Phtf2	T	C	5: 20,803,277	I135M	probably benign	Het
Pi4ka	T	C	16: 17,307,740	E1177G		Het
Polr3gl	A	T	3: 96,578,517	D214E	probably damaging	Het
Prkar1a	C	A	11: 109,665,918	Q275K	probably benign	Het
Ptprc	A	G	1: 138,126,301		probably null	Het
Pwwp2a	C	A	11: 43,705,517	P503Q	probably damaging	Het
Rad17	T	C	13: 100,617,684		probably benign	Het
Rapgef6	T	C	11: 54,679,239	L1146S	probably benign	Het
Rara	C	A	11: 98,973,626	Q460K	unknown	Het
Rassf4	C	T	6: 116,661,936		probably benign	Het
Rere	A	G	4: 150,612,014	D492G	unknown	Het
Selenon	T	G	4: 134,540,842	K460T	possibly damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,570		probably benign	Het
Slc35e1	T	C	8: 72,488,144	T245A	probably benign	Het
Stat4	C	T	1: 52,105,733	A726V	probably benign	Het
Stim1	G	T	7: 102,421,390	V277L	probably damaging	Het
Strbp	A	G	2: 37,624,491		probably null	Het
Tln2	T	C	9: 67,266,823	Y860C	probably damaging	Het
Tmod4	T	A	3: 95,125,978		probably null	Het
Tpm3-rs7	T	C	14: 113,315,061	V129A	probably benign	Het
Trp53bp2	C	T	1: 182,446,406	P41S		Het
Tubal3	G	A	13: 3,933,428	D403N	probably damaging	Het
Wdr66	A	G	5: 123,286,418	D722G	possibly damaging	Het
Zfp369	T	C	13: 65,296,230	S396P	possibly damaging	Het
Zfp976	G	A	7: 42,613,151	H422Y	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
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
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'- ACCATCCTGTGTGGGAGAAC -3'
(R):5'- AATCCCATTCCTGAGCCTGG -3'

Sequencing Primer
(F):5'- CCTGTGTGGGAGAACAGGGATG -3'
(R):5'- CTGAGGTATCAGCAGCTGC -3'

Posted On

2021-08-02