Mutagenetix > Incidental Mutation

Incidental Mutation 'R4812:Fmnl1'

369576

Institutional Source

Beutler Lab

Gene Symbol

Fmnl1

Ensembl Gene

ENSMUSG00000055805

Gene Name

formin-like 1

Synonyms

formin-related gene in leukocytes, 8030453N10Rik

MMRRC Submission

042431-MU

Accession Numbers

Essential gene?

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

Stock #

R4812 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103171107-103198901 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 103198564 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134292 (fasta)

Gene Model

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

AlphaFold

Q9JL26

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000021322

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: V1088A

SMART Domains

Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
AA Change: V1088A

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

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: ENSMUST00000129726

SMART Domains

Protein: ENSMUSP00000133299
Gene: ENSMUSG00000055805

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140559

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: V1094A

Meta Mutation Damage Score

0.1050

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

93% (124/133)

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: 128 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017G19Rik	C	T	3: 40,521,484		noncoding transcript	Het
2410089E03Rik	T	G	15: 8,201,123		probably null	Het
Abca5	T	C	11: 110,301,821	D681G	probably damaging	Het
Actl11	T	C	9: 107,931,130	V884A	probably damaging	Het
Akr1c14	G	A	13: 4,079,165	V187M	probably damaging	Het
Apbb1	A	T	7: 105,574,025	N126K	probably damaging	Het
Armc4	T	G	18: 7,288,634	T78P	possibly damaging	Het
Bmt2	G	T	6: 13,677,800	R12S	unknown	Het
Btrc	G	A	19: 45,423,164	C9Y	possibly damaging	Het
C5ar1	A	C	7: 16,248,333		probably null	Het
C8a	C	T	4: 104,862,591		probably null	Het
Cabin1	A	G	10: 75,646,594	S2172P	possibly damaging	Het
Calcoco2	T	C	11: 96,107,450	D49G	probably damaging	Het
Camta1	C	T	4: 151,131,542	D974N	probably null	Het
Car6	T	C	4: 150,197,415	E47G	probably damaging	Het
Ccdc105	T	C	10: 78,749,216	H262R	probably benign	Het
Ccnd3	G	A	17: 47,597,580		probably null	Het
Celf5	A	T	10: 81,470,739	V30E	probably damaging	Het
Cfap46	T	A	7: 139,636,000	D1513V	probably damaging	Het
Cinp	T	C	12: 110,879,740	Y84C	probably damaging	Het
Cnih1	A	G	14: 46,776,544	I154T	probably damaging	Het
Col15a1	C	T	4: 47,262,479	P511L	possibly damaging	Het
Col4a4	C	T	1: 82,462,153	V1364M	unknown	Het
Crtam	A	G	9: 40,984,325	L38P	probably damaging	Het
Ctnna1	T	A	18: 35,239,477	V495D	probably damaging	Het
Cubn	T	C	2: 13,459,076	Y606C	probably damaging	Het
Cyp4f16	C	T	17: 32,546,678	A345V	probably null	Het
Dctn1	A	T	6: 83,189,937	M160L	probably benign	Het
Dip2c	T	A	13: 9,637,130	C366*	probably null	Het
Dnajc2	G	A	5: 21,763,486	S401L	probably benign	Het
Dnmt3l	A	G	10: 78,057,294	I302V	probably benign	Het
Dvl2	T	C	11: 70,011,293		probably benign	Het
Edn1	T	G	13: 42,303,640	S50A	probably benign	Het
Efhc1	A	T	1: 20,990,647	R636W	probably damaging	Het
Epg5	T	A	18: 77,979,184	H1047Q	probably benign	Het
Etv1	T	G	12: 38,861,288	V371G	probably damaging	Het
Fam71e2	G	A	7: 4,759,072	T295M	probably damaging	Het
Fap	T	A	2: 62,519,021	I475F	probably damaging	Het
Fbxw15	T	C	9: 109,559,922	I140V	probably benign	Het
Fer	A	G	17: 63,934,297	T311A	probably benign	Het
Fh1	A	G	1: 175,601,459	W497R	probably damaging	Het
Flot2	T	A	11: 78,053,365	L45Q	probably damaging	Het
Flt1	C	A	5: 147,683,939	A132S	probably benign	Het
Ggta1	C	T	2: 35,402,723	V203I	probably benign	Het
Gm19345	C	T	7: 19,857,873	V204M	probably damaging	Het
Gm4204	T	A	1: 135,232,489		noncoding transcript	Het
Gm6124	C	G	7: 39,222,895		noncoding transcript	Het
Gprin3	T	A	6: 59,353,365	K652N	possibly damaging	Het
Gucy1b2	T	C	14: 62,415,897		probably null	Het
Hace1	C	A	10: 45,686,603	A738E	probably benign	Het
Hectd1	C	T	12: 51,827,351		probably null	Het
Hnrnpdl	T	C	5: 100,036,472		probably benign	Het
Hyou1	T	C	9: 44,387,121		probably benign	Het
Ifi44l	G	A	3: 151,759,699	A138V	probably benign	Het
Igkv16-104	A	T	6: 68,425,845	I41F	possibly damaging	Het
Ints7	T	A	1: 191,594,430	D171E	possibly damaging	Het
Kmt2a	A	T	9: 44,831,354		probably benign	Het
Kmt2e	T	C	5: 23,502,587	V1716A	possibly damaging	Het
Krtap5-1	G	A	7: 142,296,891	S60F	unknown	Het
Lama4	G	A	10: 39,072,769	V843I	probably benign	Het
Laptm5	A	G	4: 130,913,438		probably null	Het
Lbhd1	G	A	19: 8,889,174	A193T	probably damaging	Het
Lce3f	C	T	3: 92,992,940	P23S	unknown	Het
Lrmp	G	A	6: 145,148,011	G120S	probably damaging	Het
Mecom	A	C	3: 30,140,368	M1R	probably null	Het
Mindy4	A	C	6: 55,279,103	T531P	possibly damaging	Het
Mrpl3	A	G	9: 105,073,824	N263S	probably damaging	Het
Myo18b	T	C	5: 112,809,718	K1460E	possibly damaging	Het
Myof	A	G	19: 37,916,559	Y852H	probably damaging	Het
Nefl	T	G	14: 68,084,285	V108G	probably damaging	Het
Nid1	T	A	13: 13,506,468	L1061*	probably null	Het
Nim1k	T	A	13: 119,712,384	M325L	probably benign	Het
Nlrp1c-ps	T	C	11: 71,252,305		noncoding transcript	Het
Npsr1	C	T	9: 24,289,956	T59I	probably damaging	Het
Nr2c1	A	G	10: 94,188,252	T440A	probably benign	Het
Nup160	C	T	2: 90,725,691	T1245I	probably damaging	Het
Nup88	T	A	11: 70,965,726	T194S	probably damaging	Het
Oas3	A	G	5: 120,761,147		probably benign	Het
Olfr1129	A	G	2: 87,575,743	I220V	probably benign	Het
Olfr1274-ps	T	A	2: 90,401,096	M145K	probably benign	Het
Olfr1393	T	A	11: 49,280,457	I103K	possibly damaging	Het
Opn1sw	A	T	6: 29,378,039	M252K	probably damaging	Het
Oprm1	T	G	10: 6,832,698		probably benign	Het
Pcdha2	T	A	18: 36,939,808	V164E	probably benign	Het
Pclo	A	G	5: 14,540,025	T780A	unknown	Het
Pcnx2	T	A	8: 125,865,939	Q762L	probably benign	Het
Pcyt2	A	T	11: 120,614,425		probably benign	Het
Pdpr	A	G	8: 111,116,717	N294D	probably benign	Het
Perm1	T	A	4: 156,218,736	V579E	possibly damaging	Het
Pgk2	T	A	17: 40,207,390	K382N	possibly damaging	Het
Plcb4	T	A	2: 136,007,881	L205Q	probably damaging	Het
Plekha3	C	T	2: 76,686,631	T109I	probably damaging	Het
Pnn	T	A	12: 59,071,618	V329E	possibly damaging	Het
Ptpn13	A	G	5: 103,523,615	I469M	probably benign	Het
Rapgef3	A	G	15: 97,753,803	V603A	probably benign	Het
Rbms1	C	T	2: 60,792,769	V75I	possibly damaging	Het
Rbp3	T	A	14: 33,954,774	D226E	probably damaging	Het
Robo2	A	T	16: 73,916,288	N1189K	probably benign	Het
Rragd	A	G	4: 33,018,766	T270A	probably benign	Het
Rxfp1	T	A	3: 79,650,582	T530S	probably benign	Het
Ryr3	T	C	2: 112,912,236	E479G	probably damaging	Het
Scd2	A	T	19: 44,301,402	I279F	probably damaging	Het
Sh3d19	A	T	3: 86,123,767	D746V	probably damaging	Het
Shroom4	A	G	X: 6,624,126	K1133E	probably benign	Het
Sirpb1c	A	G	3: 15,833,222	V151A	probably damaging	Het
Slc26a2	A	T	18: 61,202,021	I120N	probably damaging	Het
Slco1a1	A	G	6: 141,918,593	S494P	probably damaging	Het
Srebf2	A	T	15: 82,203,825	T1061S	probably damaging	Het
Sspo	T	C	6: 48,490,510	L4202P	probably benign	Het
Synj2	G	A	17: 6,010,664	G215E	probably damaging	Het
Tbc1d19	T	C	5: 53,809,806	V16A	probably damaging	Het
Tiparp	T	C	3: 65,552,769	I495T	possibly damaging	Het
Tipin	A	G	9: 64,304,412	H260R	probably benign	Het
Tle1	A	G	4: 72,145,354	S221P	probably damaging	Het
Tmem94	T	A	11: 115,796,112	L1101*	probably null	Het
Trim43b	C	T	9: 89,091,480	D67N	probably benign	Het
Ubn2	T	A	6: 38,463,726	C178S	probably benign	Het
Vmn1r54	T	C	6: 90,269,325	F74L	probably benign	Het
Vmn2r24	A	G	6: 123,779,185	H72R	probably benign	Het
Wdr66	G	A	5: 123,287,305	V776I	probably benign	Het
Wnk1	C	T	6: 119,952,771	V850I	probably benign	Het
Zan	T	G	5: 137,456,285	Y1419S	unknown	Het
Zbtb14	T	A	17: 69,387,582	Y92N	probably damaging	Het
Zfand5	A	G	19: 21,277,737	K116E	probably benign	Het
Zfhx3	A	G	8: 108,947,961	E1881G	possibly damaging	Het
Zfp280b	A	G	10: 76,039,090	K268E	probably benign	Het
Zfp541	A	G	7: 16,079,110	I563V	probably benign	Het
Zfy2	T	A	Y: 2,106,334	I767L	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
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
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'- AAATGAGTGTCCCCTTCCACG -3'
(R):5'- CTCAGGCTGAGTATGGCTATTG -3'

Sequencing Primer
(F):5'- CACGTGTACAAAATCAAGTCCTTAG -3'
(R):5'- AGGGTGCTACGACCAGTTTTTG -3'

Posted On

2016-02-04