Mutagenetix > Incidental Mutation

Incidental Mutation 'R1170:Fmnl1'

99323

Institutional Source

Beutler Lab

Gene Symbol

Fmnl1

Ensembl Gene

ENSMUSG00000055805

Gene Name

formin-like 1

Synonyms

formin-related gene in leukocytes, 8030453N10Rik

MMRRC Submission

039243-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R1170 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103171107-103198901 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103197370 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 69 (G69D)

Ref Sequence

ENSEMBL: ENSMUSP00000133299 (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: G1012D

SMART Domains

Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
AA Change: G1012D

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: G1012D

SMART Domains

Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805
AA Change: G1012D

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
AA Change: G69D

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000133299
Gene: ENSMUSG00000055805
AA Change: G69D

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

noncoding transcript
Transcript: ENSMUST00000174079

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: G1018D

Meta Mutation Damage Score

0.0953

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

100% (105/105)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	A	G	1: 151,980,412 (GRCm38)		probably benign	Het
Akap9	G	A	5: 4,055,671 (GRCm38)	S2914N	probably benign	Het
Alk	T	C	17: 71,900,734 (GRCm38)	D1002G	probably damaging	Het
Ap3d1	A	G	10: 80,732,840 (GRCm38)		probably benign	Het
Asb15	T	C	6: 24,562,487 (GRCm38)		probably benign	Het
Asxl3	C	A	18: 22,524,507 (GRCm38)	P1858Q	probably benign	Het
Bltp1	T	C	3: 37,044,631 (GRCm38)	S1136P	probably damaging	Het
Bud31	T	A	5: 145,142,578 (GRCm38)		probably benign	Het
C1qtnf1	G	T	11: 118,448,269 (GRCm38)	R255L	probably damaging	Het
Cacna2d4	C	T	6: 119,307,286 (GRCm38)	R745W	probably damaging	Het
Cage1	C	T	13: 38,022,880 (GRCm38)	E330K	probably damaging	Het
Catsperz	T	A	19: 6,924,949 (GRCm38)	N59I	probably benign	Het
Ccdc110	G	T	8: 45,941,885 (GRCm38)	S271I	probably benign	Het
Ccdc88b	T	A	19: 6,853,213 (GRCm38)	E787V	probably damaging	Het
Ccna2	A	T	3: 36,568,970 (GRCm38)		probably benign	Het
Cd36	T	A	5: 17,813,088 (GRCm38)	D209V	probably damaging	Het
Cers4	T	A	8: 4,519,475 (GRCm38)	W161R	probably damaging	Het
Ces2f	T	A	8: 104,953,546 (GRCm38)	H442Q	probably damaging	Het
Chchd6	A	C	6: 89,384,687 (GRCm38)	C245G	probably damaging	Het
Cndp1	T	G	18: 84,611,625 (GRCm38)	Q481P	probably benign	Het
Col3a1	A	G	1: 45,327,601 (GRCm38)	R234G	unknown	Het
Col3a1	A	T	1: 45,347,724 (GRCm38)	N232I	probably damaging	Het
Colgalt2	A	T	1: 152,503,017 (GRCm38)	D398V	probably damaging	Het
Cxcl10	TACTCAC	TACTCACTCAC	5: 92,348,082 (GRCm38)		probably null	Het
Dcdc2a	C	A	13: 25,056,307 (GRCm38)	Q13K	probably benign	Het
Dzip3	A	T	16: 48,961,208 (GRCm38)	I240N	probably damaging	Het
Epb41l3	T	A	17: 69,259,180 (GRCm38)	L452*	probably null	Het
Fam193b	C	T	13: 55,541,705 (GRCm38)	A753T	probably damaging	Het
Fam47e	G	C	5: 92,565,922 (GRCm38)		probably benign	Het
Fastkd1	A	G	2: 69,708,649 (GRCm38)		probably benign	Het
Foxn2	A	G	17: 88,473,666 (GRCm38)		probably benign	Het
Fsip2	A	G	2: 82,991,500 (GRCm38)	E5859G	possibly damaging	Het
Gm9894	T	A	13: 67,764,701 (GRCm38)		noncoding transcript	Het
H2-T13	T	C	17: 36,081,091 (GRCm38)	N44S	possibly damaging	Het
Helz2	T	C	2: 181,229,815 (GRCm38)	Y2668C	probably damaging	Het
Hhipl1	T	A	12: 108,311,693 (GRCm38)	C93*	probably null	Het
Lig1	C	T	7: 13,292,153 (GRCm38)	A278V	probably benign	Het
Lipn	T	A	19: 34,071,758 (GRCm38)	I108K	probably benign	Het
Lsamp	A	G	16: 42,151,229 (GRCm38)		probably benign	Het
Map3k14	A	G	11: 103,238,917 (GRCm38)		probably benign	Het
Mdm4	A	G	1: 133,012,692 (GRCm38)	L33P	probably damaging	Het
Mdm4	A	T	1: 132,991,820 (GRCm38)	C436S	probably damaging	Het
Meiob	T	C	17: 24,836,484 (GRCm38)	W422R	probably damaging	Het
Mppe1	T	C	18: 67,227,706 (GRCm38)	Y254C	probably damaging	Het
Mterf1a	A	T	5: 3,890,964 (GRCm38)	N301K	probably benign	Het
Muc6	C	T	7: 141,644,233 (GRCm38)	S1210N	probably damaging	Het
Mycbp2	A	T	14: 103,200,152 (GRCm38)	Y2091*	probably null	Het
Mylk	G	A	16: 34,874,039 (GRCm38)	R156H	probably benign	Het
Myo15a	G	T	11: 60,479,407 (GRCm38)	D998Y	probably benign	Het
Neb	A	T	2: 52,196,357 (GRCm38)	Y5235N	probably damaging	Het
Nop58	A	G	1: 59,704,211 (GRCm38)		probably benign	Het
Nr4a3	A	G	4: 48,083,324 (GRCm38)	K619R	probably benign	Het
Nr4a3	A	G	4: 48,051,564 (GRCm38)	H135R	probably damaging	Het
Nrg1	T	C	8: 31,837,667 (GRCm38)		probably benign	Het
Odr4	T	A	1: 150,386,391 (GRCm38)	E99D	probably benign	Het
Or4f59	A	T	2: 112,042,215 (GRCm38)	D272E	probably benign	Het
Or5b122	T	C	19: 13,586,213 (GRCm38)	V260A	probably benign	Het
Or5m8	A	T	2: 85,992,696 (GRCm38)	N293I	probably damaging	Het
Or8g24	T	A	9: 39,078,229 (GRCm38)	D172V	possibly damaging	Het
Parp3	T	C	9: 106,476,005 (GRCm38)		probably benign	Het
Pde2a	A	G	7: 101,484,543 (GRCm38)	E103G	probably benign	Het
Pds5a	A	T	5: 65,635,302 (GRCm38)		probably benign	Het
Pip4k2c	A	G	10: 127,211,393 (GRCm38)	V40A	unknown	Het
Pitrm1	T	C	13: 6,552,744 (GRCm38)		probably benign	Het
Plk4	A	G	3: 40,801,847 (GRCm38)	I64M	probably damaging	Het
Ppp1r16a	C	T	15: 76,693,669 (GRCm38)	Q328*	probably null	Het
Ppp2r1a	T	C	17: 20,951,331 (GRCm38)		probably benign	Het
Ppp4r3b	T	A	11: 29,209,426 (GRCm38)	N172K	probably damaging	Het
Prkcg	G	A	7: 3,319,661 (GRCm38)	R357Q	probably damaging	Het
Prmt3	T	C	7: 49,848,547 (GRCm38)		probably null	Het
Prx	T	A	7: 27,518,007 (GRCm38)	C644*	probably null	Het
Ptpru	A	G	4: 131,808,527 (GRCm38)		probably benign	Het
Rbm5	A	T	9: 107,742,497 (GRCm38)	D738E	probably damaging	Het
Recql5	A	T	11: 115,897,234 (GRCm38)	Y420N	probably damaging	Het
Rnf17	T	C	14: 56,425,631 (GRCm38)	I152T	probably benign	Het
Rnpepl1	A	G	1: 92,919,195 (GRCm38)	S580G	possibly damaging	Het
Ryr3	C	T	2: 112,946,987 (GRCm38)	G275D	probably damaging	Het
Serpinb9e	T	A	13: 33,257,752 (GRCm38)	Y222*	probably null	Het
Shld2	A	T	14: 34,268,491 (GRCm38)	S153T	possibly damaging	Het
Slc10a1	T	A	12: 80,956,028 (GRCm38)	I279F	probably damaging	Het
Slc12a8	G	T	16: 33,662,977 (GRCm38)	G584V	probably damaging	Het
Slc35b3	T	A	13: 38,937,331 (GRCm38)	Y311F	probably benign	Het
Slc44a5	A	G	3: 154,257,720 (GRCm38)		probably null	Het
Slc6a9	A	G	4: 117,864,806 (GRCm38)	E422G	possibly damaging	Het
Smpd2	A	G	10: 41,488,732 (GRCm38)		probably null	Het
Spast	A	G	17: 74,381,968 (GRCm38)		probably null	Het
Spink5	A	T	18: 43,983,563 (GRCm38)	E208V	probably benign	Het
Stag1	T	C	9: 100,888,453 (GRCm38)		probably benign	Het
Stambp	A	G	6: 83,563,821 (GRCm38)		probably null	Het
Sult3a2	A	T	10: 33,777,192 (GRCm38)	M184K	possibly damaging	Het
Tcp11	T	C	17: 28,071,662 (GRCm38)	D162G	probably damaging	Het
Themis	A	C	10: 28,668,748 (GRCm38)	E30A	possibly damaging	Het
Tmc7	G	A	7: 118,551,260 (GRCm38)	S350L	probably benign	Het
Tmem131	A	T	1: 36,834,898 (GRCm38)	Y271*	probably null	Het
Trim35	T	A	14: 66,308,799 (GRCm38)	S338R	probably benign	Het
Trim42	C	A	9: 97,363,620 (GRCm38)	V376F	probably benign	Het
Tshr	A	T	12: 91,538,097 (GRCm38)	K11M	probably damaging	Het
Vps8	A	G	16: 21,459,820 (GRCm38)		probably benign	Het
Wdr11	T	C	7: 129,607,107 (GRCm38)		probably benign	Het
Wdr26	A	T	1: 181,181,294 (GRCm38)		probably benign	Het
Wdtc1	A	G	4: 133,297,546 (GRCm38)	Y447H	probably damaging	Het
Zfp687	C	T	3: 95,008,473 (GRCm38)	C996Y	probably damaging	Het
Zfp984	A	T	4: 147,755,989 (GRCm38)	V135E	probably benign	Het
Zranb2	T	C	3: 157,541,865 (GRCm38)		probably benign	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
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
R8968:Fmnl1	UTSW	11	103,186,618 (GRCm38)	small deletion	probably benign
R9114:Fmnl1	UTSW	11	103,196,501 (GRCm38)	missense	unknown
R9696:Fmnl1	UTSW	11	103,195,471 (GRCm38)	missense	unknown

Predicted Primers

Posted On

2014-01-15