Mutagenetix > Incidental Mutation

Incidental Mutation 'R8968:Fmnl1'

682875

Institutional Source

Beutler Lab

Gene Symbol

Fmnl1

Ensembl Gene

ENSMUSG00000055805

Gene Name

formin-like 1

Synonyms

formin-related gene in leukocytes, 8030453N10Rik

MMRRC Submission

068802-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R8968 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

103171107-103198901 bp(+) (GRCm38)

Type of Mutation

small deletion (2 aa in frame mutation)

DNA Base Change (assembly)

AGGCTCTGG to AGG at 103186618 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151439 (fasta)

Gene Model

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

AlphaFold

Q9JL26

Predicted Effect

probably benign
Transcript: ENSMUST00000042286

SMART Domains

Protein: ENSMUSP00000046296
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
low complexity region	1074	1087	N/A	INTRINSIC

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: ENSMUST00000218163

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,332,310 (GRCm38)	L1153*	probably null	Het
2410089E03Rik	A	T	15: 8,201,281 (GRCm38)	H1014L	possibly damaging	Het
2810474O19Rik	T	A	6: 149,327,166 (GRCm38)	V570D	probably damaging	Het
Adamts2	T	C	11: 50,792,723 (GRCm38)	I944T	possibly damaging	Het
Aqp9	A	T	9: 71,138,203 (GRCm38)	C67*	probably null	Het
Armt1	G	T	10: 4,454,150 (GRCm38)	G412W	probably damaging	Het
B4galt1	T	C	4: 40,807,243 (GRCm38)	D381G	probably benign	Het
Bmp5	A	T	9: 75,873,297 (GRCm38)	H292L	probably benign	Het
Brpf1	T	C	6: 113,322,549 (GRCm38)	F1181S	probably damaging	Het
Btbd7	C	A	12: 102,812,766 (GRCm38)	G414C	probably damaging	Het
Ccdc65	A	T	15: 98,718,842 (GRCm38)	K204*	probably null	Het
Cdk5	T	A	5: 24,422,381 (GRCm38)	K88M	probably damaging	Het
Cdrt4	T	A	11: 62,992,808 (GRCm38)	L112Q	probably damaging	Het
Cenpb	T	C	2: 131,178,627 (GRCm38)	E417G	unknown	Het
Cep135	T	C	5: 76,606,729 (GRCm38)	I351T	possibly damaging	Het
Ces1d	A	T	8: 93,187,755 (GRCm38)	S226R	probably damaging	Het
Cfap97	T	A	8: 46,170,077 (GRCm38)	V168E	possibly damaging	Het
CN725425	T	C	15: 91,245,887 (GRCm38)	C318R	possibly damaging	Het
Cnga3	T	A	1: 37,261,379 (GRCm38)	D393E	probably benign	Het
Cpsf1	G	A	15: 76,601,969 (GRCm38)	R358*	probably null	Het
Cyp2b23	G	A	7: 26,679,538 (GRCm38)	P167L	probably damaging	Het
Cyp2c70	A	T	19: 40,153,615 (GRCm38)	H477Q	probably benign	Het
D930020B18Rik	A	C	10: 121,654,816 (GRCm38)	Y107S	probably damaging	Het
Dhrs1	A	T	14: 55,740,735 (GRCm38)	F216I	probably benign	Het
Dmgdh	A	T	13: 93,709,259 (GRCm38)	K474*	probably null	Het
Dsp	T	C	13: 38,151,620 (GRCm38)	I11T	possibly damaging	Het
Erh	G	T	12: 80,637,508 (GRCm38)	A65E	probably benign	Het
Grid2	A	C	6: 64,666,155 (GRCm38)	H967P	probably benign	Het
Hc	A	G	2: 35,032,305 (GRCm38)	I503T	possibly damaging	Het
Herc3	T	C	6: 58,890,198 (GRCm38)	L824S	probably damaging	Het
Hfm1	T	C	5: 106,917,573 (GRCm38)	D80G	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277 (GRCm38)		probably benign	Het
Hspa1l	A	G	17: 34,977,254 (GRCm38)	K90E	possibly damaging	Het
Impa2	G	A	18: 67,318,427 (GRCm38)	V264I	probably benign	Het
Ipmk	C	T	10: 71,363,503 (GRCm38)	R65W	probably damaging	Het
Klhl38	C	T	15: 58,322,104 (GRCm38)	V410I	probably benign	Het
Lcn4	A	G	2: 26,668,348 (GRCm38)	I175T	possibly damaging	Het
Lipo2	C	A	19: 33,749,517 (GRCm38)	W40L	probably damaging	Het
Mgam	A	T	6: 40,757,811 (GRCm38)		probably null	Het
Myo16	T	A	8: 10,569,700 (GRCm38)	I1417N	unknown	Het
Olfr1052	G	A	2: 86,298,182 (GRCm38)	R122H	probably benign	Het
Olfr1196	T	A	2: 88,700,793 (GRCm38)	I179F	probably benign	Het
Olfr136	A	T	17: 38,335,429 (GRCm38)	T91S	possibly damaging	Het
Olfr603	A	T	7: 103,383,460 (GRCm38)	C181S	probably damaging	Het
Pcdha11	A	G	18: 37,012,254 (GRCm38)	N466S	probably damaging	Het
Pif1	C	T	9: 65,591,794 (GRCm38)	T432M	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669 (GRCm38)		probably null	Het
Pkd1l3	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	8: 109,623,788 (GRCm38)		probably benign	Het
Pole	T	C	5: 110,312,083 (GRCm38)	S1118P	possibly damaging	Het
Ppp4r4	T	C	12: 103,600,447 (GRCm38)	M652T	probably benign	Het
Prex2	A	T	1: 11,110,338 (GRCm38)	K376*	probably null	Het
Prps1l1	A	T	12: 34,985,206 (GRCm38)	I107F	probably damaging	Het
Rfc1	C	T	5: 65,275,435 (GRCm38)	V761I	probably benign	Het
Ripk4	T	C	16: 97,746,003 (GRCm38)	E353G	probably benign	Het
Robo2	C	A	16: 73,971,053 (GRCm38)		probably null	Het
Rrm1	C	T	7: 102,468,338 (GRCm38)	A745V	probably benign	Het
Sash1	A	T	10: 8,730,415 (GRCm38)	V737D	probably benign	Het
Sel1l2	T	C	2: 140,285,289 (GRCm38)	K101E	probably benign	Het
Selenbp2	A	T	3: 94,700,030 (GRCm38)	I253F	probably benign	Het
Setd1a	C	T	7: 127,786,107 (GRCm38)	P662L	possibly damaging	Het
Slc16a6	C	T	11: 109,454,950 (GRCm38)	V496I	possibly damaging	Het
Slc4a4	A	T	5: 89,084,653 (GRCm38)	M239L	probably benign	Het
Slc7a8	G	C	14: 54,781,293 (GRCm38)	A12G	probably benign	Het
Snx30	T	C	4: 59,886,517 (GRCm38)	S309P	possibly damaging	Het
Spen	T	C	4: 141,470,390 (GRCm38)	N3389S	probably benign	Het
Spg11	T	C	2: 122,092,206 (GRCm38)	T921A	probably damaging	Het
Tanc2	T	A	11: 105,867,574 (GRCm38)	D720E	possibly damaging	Het
Tmprss9	A	T	10: 80,894,329 (GRCm38)	I688F	possibly damaging	Het
Trap1	A	G	16: 4,044,626 (GRCm38)	V596A	possibly damaging	Het
Ttc32	G	T	12: 9,030,187 (GRCm38)	R44L	probably benign	Het
Tusc3	T	A	8: 39,130,744 (GRCm38)	N288K	probably benign	Het
Ush2a	G	A	1: 188,395,759 (GRCm38)	G656E	probably damaging	Het
Vill	T	C	9: 119,063,603 (GRCm38)		probably null	Het
Vmn1r5	A	T	6: 56,986,197 (GRCm38)	R286*	probably null	Het
Vmn2r14	T	C	5: 109,217,667 (GRCm38)	T514A	probably benign	Het
Vmn2r32	G	A	7: 7,474,205 (GRCm38)	H396Y	probably benign	Het
Vmn2r75	A	T	7: 86,171,557 (GRCm38)	Y56*	probably null	Het
Wdfy3	C	T	5: 101,864,117 (GRCm38)	S2668N	probably benign	Het
Wdr72	G	A	9: 74,152,447 (GRCm38)	D392N	probably benign	Het
Zfp518a	A	C	19: 40,913,426 (GRCm38)	K600Q	possibly damaging	Het

Other mutations in Fmnl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Fmnl1	APN	11	103,197,340 (GRCm38)	nonsense	probably null
IGL00972:Fmnl1	APN	11	103,180,955 (GRCm38)	missense	probably damaging	1.00
IGL01406:Fmnl1	APN	11	103,194,690 (GRCm38)	unclassified	probably benign
IGL01417:Fmnl1	APN	11	103,196,694 (GRCm38)	unclassified	probably benign
IGL01599:Fmnl1	APN	11	103,186,656 (GRCm38)	missense	probably damaging	1.00
IGL02151:Fmnl1	APN	11	103,192,772 (GRCm38)	missense	probably benign	0.38
IGL02324:Fmnl1	APN	11	103,179,538 (GRCm38)	missense	probably damaging	1.00
IGL02812:Fmnl1	APN	11	103,196,766 (GRCm38)	unclassified	probably benign
IGL03369:Fmnl1	APN	11	103,197,182 (GRCm38)	splice site	probably null
archetypal	UTSW	11	103,186,627 (GRCm38)	missense	probably damaging	1.00
contractual	UTSW	11	103,180,915 (GRCm38)	missense	probably damaging	1.00
stylistic	UTSW	11	103,193,736 (GRCm38)	critical splice donor site	probably null
R0077:Fmnl1	UTSW	11	103,189,969 (GRCm38)	missense	probably damaging	1.00
R0241:Fmnl1	UTSW	11	103,182,170 (GRCm38)	critical splice donor site	probably null
R0241:Fmnl1	UTSW	11	103,182,170 (GRCm38)	critical splice donor site	probably null
R0413:Fmnl1	UTSW	11	103,194,063 (GRCm38)	splice site	probably benign
R1170:Fmnl1	UTSW	11	103,197,370 (GRCm38)	missense	probably benign	0.02
R1389:Fmnl1	UTSW	11	103,186,709 (GRCm38)	splice site	probably null
R1794:Fmnl1	UTSW	11	103,197,147 (GRCm38)	missense	probably benign	0.00
R2082:Fmnl1	UTSW	11	103,192,025 (GRCm38)	missense	probably damaging	1.00
R2105:Fmnl1	UTSW	11	103,194,692 (GRCm38)	missense	probably benign	0.39
R3611:Fmnl1	UTSW	11	103,194,765 (GRCm38)	unclassified	probably benign
R3883:Fmnl1	UTSW	11	103,182,114 (GRCm38)	missense	probably damaging	1.00
R3893:Fmnl1	UTSW	11	103,196,757 (GRCm38)	unclassified	probably benign
R4658:Fmnl1	UTSW	11	103,197,694 (GRCm38)	missense	probably damaging	1.00
R4689:Fmnl1	UTSW	11	103,193,736 (GRCm38)	critical splice donor site	probably null
R4812:Fmnl1	UTSW	11	103,198,564 (GRCm38)	unclassified	probably benign
R4996:Fmnl1	UTSW	11	103,182,656 (GRCm38)	missense	possibly damaging	0.58
R5646:Fmnl1	UTSW	11	103,196,512 (GRCm38)	unclassified	probably benign
R5702:Fmnl1	UTSW	11	103,185,665 (GRCm38)	missense	probably damaging	1.00
R5850:Fmnl1	UTSW	11	103,195,285 (GRCm38)	unclassified	probably benign
R5903:Fmnl1	UTSW	11	103,171,444 (GRCm38)	splice site	probably null
R6254:Fmnl1	UTSW	11	103,196,315 (GRCm38)	unclassified	probably benign
R6958:Fmnl1	UTSW	11	103,171,314 (GRCm38)	start codon destroyed	probably null	1.00
R7030:Fmnl1	UTSW	11	103,194,774 (GRCm38)	unclassified	probably benign
R7133:Fmnl1	UTSW	11	103,181,784 (GRCm38)	critical splice donor site	probably null
R7171:Fmnl1	UTSW	11	103,190,398 (GRCm38)	missense	probably damaging	1.00
R7224:Fmnl1	UTSW	11	103,182,769 (GRCm38)	critical splice donor site	probably null
R7282:Fmnl1	UTSW	11	103,196,265 (GRCm38)	missense	unknown
R7448:Fmnl1	UTSW	11	103,186,627 (GRCm38)	missense	probably damaging	1.00
R7463:Fmnl1	UTSW	11	103,193,128 (GRCm38)	missense	probably damaging	1.00
R7831:Fmnl1	UTSW	11	103,198,173 (GRCm38)	missense	unknown
R7862:Fmnl1	UTSW	11	103,180,930 (GRCm38)	missense	probably damaging	1.00
R7973:Fmnl1	UTSW	11	103,171,158 (GRCm38)	start gained	probably benign
R8177:Fmnl1	UTSW	11	103,189,959 (GRCm38)	missense	probably damaging	0.98
R8273:Fmnl1	UTSW	11	103,186,699 (GRCm38)	missense	probably damaging	1.00
R8345:Fmnl1	UTSW	11	103,186,614 (GRCm38)	missense	possibly damaging	0.88
R8507:Fmnl1	UTSW	11	103,194,033 (GRCm38)	missense	unknown
R8921:Fmnl1	UTSW	11	103,197,141 (GRCm38)	missense	unknown
R8946:Fmnl1	UTSW	11	103,180,915 (GRCm38)	missense	probably damaging	1.00
R9114:Fmnl1	UTSW	11	103,196,501 (GRCm38)	missense	unknown
R9696:Fmnl1	UTSW	11	103,195,471 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTTGTTATGAACCACCCAGCC -3'
(R):5'- GTCTCCACATGCCCTATCAG -3'

Sequencing Primer
(F):5'- CCTGTGTCAATGAGATCGCTCTAAG -3'
(R):5'- AGGCTACAATTTCTGGCAGC -3'

Posted On

2021-10-11