Mutagenetix > Incidental Mutation

Incidental Mutation 'R7030:Fmnl1'

546261

Institutional Source

Beutler Lab

Gene Symbol

Fmnl1

Ensembl Gene

ENSMUSG00000055805

Gene Name

formin-like 1

Synonyms

formin-related gene in leukocytes, 8030453N10Rik

MMRRC Submission

045131-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R7030 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103061933-103089727 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to G at 103085600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021323] [ENSMUST00000042286] [ENSMUST00000107026] [ENSMUST00000107027] [ENSMUST00000129726] [ENSMUST00000172850] [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: I715S

SMART Domains

Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
AA Change: I715S

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: I715S

SMART Domains

Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805
AA Change: I715S

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

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

unknown
Transcript: ENSMUST00000218163
AA Change: I721S

Meta Mutation Damage Score

0.9210

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (92/94)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	G	T	4: 144,430,173 (GRCm39)	A272D	possibly damaging	Het
Abr	A	T	11: 76,350,038 (GRCm39)	I347N	probably damaging	Het
Acbd4	T	A	11: 102,994,985 (GRCm39)	L50Q	probably damaging	Het
Acsl5	T	G	19: 55,261,251 (GRCm39)	Y69*	probably null	Het
Agtpbp1	G	A	13: 59,652,108 (GRCm39)	T401I	probably damaging	Het
Ap3m2	C	T	8: 23,289,807 (GRCm39)	E99K	probably damaging	Het
Arhgef28	A	T	13: 98,124,769 (GRCm39)	S504R	possibly damaging	Het
Arsj	T	A	3: 126,232,752 (GRCm39)	D499E	probably damaging	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Camk2b	T	C	11: 5,939,575 (GRCm39)	D232G	probably damaging	Het
Casc3	C	T	11: 98,713,359 (GRCm39)	P258S	possibly damaging	Het
Catspere2	T	A	1: 177,845,280 (GRCm39)	I100N	probably damaging	Het
Ccdc80	T	A	16: 44,943,252 (GRCm39)	N787K	possibly damaging	Het
Celsr1	C	A	15: 85,789,679 (GRCm39)	C2653F	probably damaging	Het
Cep170	T	C	1: 176,584,051 (GRCm39)	E11G	probably damaging	Het
Chia1	A	C	3: 106,022,641 (GRCm39)	N12H	probably damaging	Het
Chrna4	T	C	2: 180,671,334 (GRCm39)	T141A	probably damaging	Het
Col25a1	T	C	3: 130,272,671 (GRCm39)		probably null	Het
Dcstamp	A	T	15: 39,622,929 (GRCm39)	I417F	probably damaging	Het
Dnah5	A	G	15: 28,238,738 (GRCm39)	I427V	probably benign	Het
Dnah5	A	G	15: 28,333,208 (GRCm39)	E2203G	probably benign	Het
Dnmt3c	A	T	2: 153,559,345 (GRCm39)	S409C	probably damaging	Het
Dock6	A	T	9: 21,724,375 (GRCm39)	M1541K	probably damaging	Het
Dzip1l	C	T	9: 99,547,888 (GRCm39)	T714I	probably benign	Het
Exoc6b	T	C	6: 84,825,807 (GRCm39)	R535G	probably damaging	Het
Fam83h	A	G	15: 75,876,588 (GRCm39)	S250P	probably benign	Het
Fat4	C	T	3: 39,036,107 (GRCm39)	T3253I	probably damaging	Het
Fer1l6	T	A	15: 58,501,227 (GRCm39)	F1302I	probably damaging	Het
Gckr	C	A	5: 31,459,554 (GRCm39)	F201L	possibly damaging	Het
Gm10036	A	G	18: 15,966,292 (GRCm39)	T148A	probably benign	Het
Gm5142	G	A	14: 59,415,909 (GRCm39)	S83F	probably benign	Het
Gpr37	A	T	6: 25,689,004 (GRCm39)	V31D	possibly damaging	Het
Gramd2b	A	T	18: 56,618,321 (GRCm39)	Y207F	probably damaging	Het
Hr	T	C	14: 70,801,124 (GRCm39)		probably null	Het
Igf2r	A	G	17: 12,952,753 (GRCm39)	L231P	probably damaging	Het
Ighv1-66	A	T	12: 115,557,157 (GRCm39)	W3R	probably damaging	Het
Insyn2b	T	A	11: 34,352,030 (GRCm39)	V24E	probably damaging	Het
Kcnu1	T	C	8: 26,408,491 (GRCm39)	S101P	probably benign	Het
Klhl23	T	G	2: 69,664,310 (GRCm39)	V553G	probably damaging	Het
Lrp1	T	C	10: 127,388,745 (GRCm39)	I3235V	probably damaging	Het
Mb	A	T	15: 76,900,256 (GRCm39)	I57N	probably damaging	Het
Micu1	T	C	10: 59,624,843 (GRCm39)	I295T	possibly damaging	Het
Mink1	G	A	11: 70,498,601 (GRCm39)	V589I	possibly damaging	Het
Mndal	T	C	1: 173,703,160 (GRCm39)	K82E	probably damaging	Het
Mroh1	A	C	15: 76,321,517 (GRCm39)	K1066T	probably benign	Het
Muc5b	T	A	7: 141,396,192 (GRCm39)	N149K	unknown	Het
Myo7b	G	T	18: 32,104,626 (GRCm39)	L1404I	probably damaging	Het
Nlrc4	A	G	17: 74,753,001 (GRCm39)	S461P	probably damaging	Het
Nudt12	A	T	17: 59,310,348 (GRCm39)	D418E	probably benign	Het
Or2g7	T	A	17: 38,378,948 (GRCm39)	D295E	probably benign	Het
Or5g27	G	T	2: 85,409,746 (GRCm39)	R54S	possibly damaging	Het
Pcdha1	A	G	18: 37,292,326 (GRCm39)	H817R	probably damaging	Het
Pcdha4	A	G	18: 37,087,080 (GRCm39)	Y421C	probably damaging	Het
Pcf11	T	C	7: 92,306,886 (GRCm39)	D1094G	probably benign	Het
Pck2	A	T	14: 55,785,223 (GRCm39)	D427V	probably damaging	Het
Pclo	A	G	5: 14,726,421 (GRCm39)	T1760A	probably benign	Het
Pdzk1ip1	T	A	4: 114,950,188 (GRCm39)	Y83N	probably damaging	Het
Pgs1	T	C	11: 117,893,312 (GRCm39)	I213T	probably damaging	Het
Plin4	T	A	17: 56,410,969 (GRCm39)	T1021S	probably damaging	Het
Plxnb1	T	A	9: 108,941,375 (GRCm39)	I1677N	probably damaging	Het
Pm20d2	T	C	4: 33,174,752 (GRCm39)	E378G	possibly damaging	Het
Prkcq	T	G	2: 11,231,661 (GRCm39)		probably null	Het
Psmd2	C	T	16: 20,480,883 (GRCm39)	P780L	probably damaging	Het
Pvr	A	G	7: 19,639,105 (GRCm39)	S392P	possibly damaging	Het
Rad51ap2	G	C	12: 11,507,432 (GRCm39)	L451F	possibly damaging	Het
Rbm20	A	G	19: 53,823,197 (GRCm39)	E598G	probably damaging	Het
Rho	A	T	6: 115,912,504 (GRCm39)	N123Y	possibly damaging	Het
Rictor	T	C	15: 6,737,934 (GRCm39)		probably null	Het
Rilpl2	T	G	5: 124,606,656 (GRCm39)	K186T	probably damaging	Het
Rps6ka4	A	C	19: 6,816,992 (GRCm39)	L61R	probably damaging	Het
Sds	C	A	5: 120,618,890 (GRCm39)	Q118K	probably benign	Het
Septin1	C	T	7: 126,816,157 (GRCm39)	R91K	probably benign	Het
Sf3a3	A	G	4: 124,616,673 (GRCm39)	Y185C	probably damaging	Het
Shtn1	T	C	19: 58,998,266 (GRCm39)	M376V	possibly damaging	Het
Slc6a9	A	G	4: 117,714,633 (GRCm39)	T189A	possibly damaging	Het
Slc7a6	T	G	8: 106,922,606 (GRCm39)	V464G	possibly damaging	Het
Smg8	T	A	11: 86,975,919 (GRCm39)	D554V	probably damaging	Het
Sox8	A	G	17: 25,789,082 (GRCm39)		probably null	Het
Spata31e4	G	T	13: 50,857,019 (GRCm39)	V886L	possibly damaging	Het
Spats2l	T	A	1: 57,918,689 (GRCm39)	V41D	probably damaging	Het
Sult2a3	A	T	7: 13,801,493 (GRCm39)	F282Y	probably damaging	Het
Svs3a	T	G	2: 164,132,091 (GRCm39)	Y220D	probably damaging	Het
Teddm1a	T	A	1: 153,768,369 (GRCm39)	Y278N	probably damaging	Het
Tlk1	T	C	2: 70,552,272 (GRCm39)	Y526C	probably damaging	Het
Tmc3	T	A	7: 83,266,025 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,596,583 (GRCm39)	E20110V	probably damaging	Het
Tulp4	A	G	17: 6,264,941 (GRCm39)	D235G	probably damaging	Het
Usp50	T	C	2: 126,622,395 (GRCm39)	Y55C	possibly damaging	Het
Vmn1r224	T	C	17: 20,639,789 (GRCm39)	L122P	probably benign	Het
Vmn2r62	A	G	7: 42,438,473 (GRCm39)	L121P	possibly damaging	Het
Whrn	G	T	4: 63,413,368 (GRCm39)		probably benign	Het
Zer1	G	T	2: 30,001,033 (GRCm39)	H129Q	probably benign	Het
Zfand4	G	A	6: 116,282,618 (GRCm39)	A64T	probably benign	Het

Other mutations in Fmnl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Fmnl1	APN	11	103,088,166 (GRCm39)	nonsense	probably null
IGL00972:Fmnl1	APN	11	103,071,781 (GRCm39)	missense	probably damaging	1.00
IGL01406:Fmnl1	APN	11	103,085,516 (GRCm39)	unclassified	probably benign
IGL01417:Fmnl1	APN	11	103,087,520 (GRCm39)	unclassified	probably benign
IGL01599:Fmnl1	APN	11	103,077,482 (GRCm39)	missense	probably damaging	1.00
IGL02151:Fmnl1	APN	11	103,083,598 (GRCm39)	missense	probably benign	0.38
IGL02324:Fmnl1	APN	11	103,070,364 (GRCm39)	missense	probably damaging	1.00
IGL02812:Fmnl1	APN	11	103,087,592 (GRCm39)	unclassified	probably benign
IGL03369:Fmnl1	APN	11	103,088,008 (GRCm39)	splice site	probably null
archetypal	UTSW	11	103,077,453 (GRCm39)	missense	probably damaging	1.00
contractual	UTSW	11	103,071,741 (GRCm39)	missense	probably damaging	1.00
stylistic	UTSW	11	103,084,562 (GRCm39)	critical splice donor site	probably null
R0077:Fmnl1	UTSW	11	103,080,795 (GRCm39)	missense	probably damaging	1.00
R0241:Fmnl1	UTSW	11	103,072,996 (GRCm39)	critical splice donor site	probably null
R0241:Fmnl1	UTSW	11	103,072,996 (GRCm39)	critical splice donor site	probably null
R0413:Fmnl1	UTSW	11	103,084,889 (GRCm39)	splice site	probably benign
R1170:Fmnl1	UTSW	11	103,088,196 (GRCm39)	missense	probably benign	0.02
R1389:Fmnl1	UTSW	11	103,077,535 (GRCm39)	splice site	probably null
R1794:Fmnl1	UTSW	11	103,087,973 (GRCm39)	missense	probably benign	0.00
R2082:Fmnl1	UTSW	11	103,082,851 (GRCm39)	missense	probably damaging	1.00
R2105:Fmnl1	UTSW	11	103,085,518 (GRCm39)	missense	probably benign	0.39
R3611:Fmnl1	UTSW	11	103,085,591 (GRCm39)	unclassified	probably benign
R3883:Fmnl1	UTSW	11	103,072,940 (GRCm39)	missense	probably damaging	1.00
R3893:Fmnl1	UTSW	11	103,087,583 (GRCm39)	unclassified	probably benign
R4658:Fmnl1	UTSW	11	103,088,520 (GRCm39)	missense	probably damaging	1.00
R4689:Fmnl1	UTSW	11	103,084,562 (GRCm39)	critical splice donor site	probably null
R4812:Fmnl1	UTSW	11	103,089,390 (GRCm39)	unclassified	probably benign
R4996:Fmnl1	UTSW	11	103,073,482 (GRCm39)	missense	possibly damaging	0.58
R5646:Fmnl1	UTSW	11	103,087,338 (GRCm39)	unclassified	probably benign
R5702:Fmnl1	UTSW	11	103,076,491 (GRCm39)	missense	probably damaging	1.00
R5850:Fmnl1	UTSW	11	103,086,111 (GRCm39)	unclassified	probably benign
R5903:Fmnl1	UTSW	11	103,062,270 (GRCm39)	splice site	probably null
R6254:Fmnl1	UTSW	11	103,087,141 (GRCm39)	unclassified	probably benign
R6958:Fmnl1	UTSW	11	103,062,140 (GRCm39)	start codon destroyed	probably null	1.00
R7133:Fmnl1	UTSW	11	103,072,610 (GRCm39)	critical splice donor site	probably null
R7171:Fmnl1	UTSW	11	103,081,224 (GRCm39)	missense	probably damaging	1.00
R7224:Fmnl1	UTSW	11	103,073,595 (GRCm39)	critical splice donor site	probably null
R7282:Fmnl1	UTSW	11	103,087,091 (GRCm39)	missense	unknown
R7448:Fmnl1	UTSW	11	103,077,453 (GRCm39)	missense	probably damaging	1.00
R7463:Fmnl1	UTSW	11	103,083,954 (GRCm39)	missense	probably damaging	1.00
R7831:Fmnl1	UTSW	11	103,088,999 (GRCm39)	missense	unknown
R7862:Fmnl1	UTSW	11	103,071,756 (GRCm39)	missense	probably damaging	1.00
R7973:Fmnl1	UTSW	11	103,061,984 (GRCm39)	start gained	probably benign
R8177:Fmnl1	UTSW	11	103,080,785 (GRCm39)	missense	probably damaging	0.98
R8273:Fmnl1	UTSW	11	103,077,525 (GRCm39)	missense	probably damaging	1.00
R8345:Fmnl1	UTSW	11	103,077,440 (GRCm39)	missense	possibly damaging	0.88
R8507:Fmnl1	UTSW	11	103,084,859 (GRCm39)	missense	unknown
R8921:Fmnl1	UTSW	11	103,087,967 (GRCm39)	missense	unknown
R8946:Fmnl1	UTSW	11	103,071,741 (GRCm39)	missense	probably damaging	1.00
R8968:Fmnl1	UTSW	11	103,077,444 (GRCm39)	small deletion	probably benign
R9114:Fmnl1	UTSW	11	103,087,327 (GRCm39)	missense	unknown
R9696:Fmnl1	UTSW	11	103,086,297 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GATGGCTAGATTAACATCCCAGGAG -3'
(R):5'- AGACAATGCTCCCTGACCAG -3'

Sequencing Primer
(F):5'- AGACTCGGCTGCACTCAG -3'
(R):5'- TCTTGCCTAGCCTAGTGA -3'

Posted On

2019-05-13