Mutagenetix > Incidental Mutation

Incidental Mutation 'R7133:Fmnl1'

552840

Institutional Source

Beutler Lab

Gene Symbol

Fmnl1

Ensembl Gene

ENSMUSG00000055805

Gene Name

formin-like 1

Synonyms

formin-related gene in leukocytes, 8030453N10Rik

MMRRC Submission

045218-MU

Accession Numbers

Essential gene?

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

Stock #

R7133 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103061933-103089727 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 103072610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000046296 (fasta)

Gene Model

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

AlphaFold

Q9JL26

Predicted Effect

probably null
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 null
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 null
Transcript: ENSMUST00000218163

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (91/93)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	A	10: 78,902,473 (GRCm39)	K614N	probably benign	Het
2610008E11Rik	T	G	10: 78,902,474 (GRCm39)	K614T	probably benign	Het
Ahsa1	T	A	12: 87,317,116 (GRCm39)	S120R	probably benign	Het
Anapc16	G	A	10: 59,832,302 (GRCm39)	T37I	possibly damaging	Het
Arid2	C	A	15: 96,276,756 (GRCm39)	P1606H	probably damaging	Het
Ash1l	TATCTCCTTTTCCAAAAA	TA	3: 88,890,764 (GRCm39)		probably null	Het
Asic1	T	A	15: 99,569,968 (GRCm39)	N96K	probably damaging	Het
Asph	A	T	4: 9,484,575 (GRCm39)	D582E	probably benign	Het
Astn1	A	G	1: 158,400,557 (GRCm39)	D528G	probably damaging	Het
Atp9b	A	G	18: 80,952,871 (GRCm39)	V164A		Het
Cbx6	C	T	15: 79,712,866 (GRCm39)	G187D	possibly damaging	Het
Cct7	A	G	6: 85,443,627 (GRCm39)	T332A	probably benign	Het
Clca4a	A	T	3: 144,667,651 (GRCm39)	L440*	probably null	Het
Crybg2	A	T	4: 133,792,754 (GRCm39)	I130F	probably benign	Het
Crybg3	T	C	16: 59,357,167 (GRCm39)	E798G	probably damaging	Het
Ctnnd2	A	G	15: 30,480,995 (GRCm39)	E81G	possibly damaging	Het
Cwc22	C	T	2: 77,759,822 (GRCm39)	R75H	possibly damaging	Het
Cym	T	G	3: 107,121,530 (GRCm39)	D254A	probably damaging	Het
Dcaf11	T	A	14: 55,806,383 (GRCm39)		probably null	Het
Dctn1	A	T	6: 83,157,026 (GRCm39)		probably null	Het
Dennd5a	C	T	7: 109,495,449 (GRCm39)		probably null	Het
Dmpk	T	A	7: 18,821,232 (GRCm39)	C217S	probably damaging	Het
Dnah1	C	A	14: 31,008,033 (GRCm39)	V2125L	probably benign	Het
Exoc4	G	A	6: 33,415,408 (GRCm39)	A427T	probably benign	Het
Farp2	G	T	1: 93,548,956 (GRCm39)	V1021F	probably damaging	Het
Flg2	T	C	3: 93,127,069 (GRCm39)	S1994P	unknown	Het
Frem2	T	A	3: 53,479,760 (GRCm39)	I1978F	possibly damaging	Het
Gan	T	A	8: 117,913,969 (GRCm39)	C122*	probably null	Het
Gpr25	T	A	1: 136,188,559 (GRCm39)	Y18F	probably damaging	Het
Hoxa7	C	T	6: 52,192,720 (GRCm39)	E223K	probably benign	Het
Hypk	A	G	2: 121,283,961 (GRCm39)		probably null	Het
Ibsp	A	T	5: 104,450,172 (GRCm39)	K27*	probably null	Het
Ighv6-5	T	A	12: 114,380,395 (GRCm39)	T41S	probably benign	Het
Ighv9-4	T	C	12: 114,263,757 (GRCm39)	M59V	probably benign	Het
Il17rb	T	C	14: 29,718,828 (GRCm39)	D418G	probably damaging	Het
Ints5	T	A	19: 8,872,923 (GRCm39)	V294E	probably damaging	Het
Irx6	G	A	8: 93,405,041 (GRCm39)	C303Y	probably damaging	Het
Itih3	T	A	14: 30,639,655 (GRCm39)	I389F	probably damaging	Het
Lama1	C	T	17: 68,089,141 (GRCm39)	T1604I		Het
Lama3	C	A	18: 12,672,843 (GRCm39)	Q873K	probably benign	Het
Lhx1	T	G	11: 84,410,746 (GRCm39)	S284R	probably benign	Het
Lrba	T	A	3: 86,302,238 (GRCm39)		probably null	Het
Lrg1	C	T	17: 56,427,592 (GRCm39)	G127R	possibly damaging	Het
Macir	G	A	1: 97,573,645 (GRCm39)	P140L	probably benign	Het
Mapre1	T	A	2: 153,606,883 (GRCm39)	L205H	probably benign	Het
Meltf	A	G	16: 31,711,617 (GRCm39)	N581S	probably damaging	Het
Mgat5	A	C	1: 127,292,926 (GRCm39)	M149L	probably benign	Het
Myh1	A	G	11: 67,093,412 (GRCm39)	T168A	probably benign	Het
Naalad2	C	T	9: 18,238,673 (GRCm39)	V681I	probably benign	Het
Or51e2	A	G	7: 102,391,524 (GRCm39)	S229P	probably damaging	Het
Or52r1c	T	A	7: 102,735,205 (GRCm39)	L155Q	probably damaging	Het
Pcnx2	T	C	8: 126,528,243 (GRCm39)	T1326A	probably benign	Het
Peg3	A	T	7: 6,711,944 (GRCm39)	C1093S	probably damaging	Het
Pidd1	T	C	7: 141,019,813 (GRCm39)	S650G	probably benign	Het
Pik3c2b	T	C	1: 133,017,972 (GRCm39)	S945P	possibly damaging	Het
Plec	T	C	15: 76,060,227 (GRCm39)	T3237A	possibly damaging	Het
Prpf3	A	T	3: 95,741,052 (GRCm39)		probably null	Het
Prpf4b	C	A	13: 35,085,477 (GRCm39)	H974Q	probably benign	Het
Ptpn3	T	C	4: 57,225,863 (GRCm39)	T451A	probably benign	Het
Ptprs	A	G	17: 56,724,429 (GRCm39)	Y1577H	probably damaging	Het
Rgr	C	T	14: 36,770,882 (GRCm39)	M1I	probably null	Het
Rxrg	A	T	1: 167,458,678 (GRCm39)	N257I	probably benign	Het
Sbno2	T	C	10: 79,922,146 (GRCm39)	D9G	probably damaging	Het
Scd1	T	C	19: 44,395,034 (GRCm39)	K64E	probably damaging	Het
Serpinb1a	T	A	13: 33,034,308 (GRCm39)	I28F	possibly damaging	Het
Sfmbt2	A	T	2: 10,406,818 (GRCm39)	E39V	probably damaging	Het
Slc29a1	A	G	17: 45,900,897 (GRCm39)	M89T	possibly damaging	Het
Slco4a1	T	A	2: 180,113,856 (GRCm39)	V431E	possibly damaging	Het
Smg1	C	T	7: 117,752,131 (GRCm39)	C2698Y	unknown	Het
Sptlc2	C	T	12: 87,397,151 (GRCm39)	D212N	probably benign	Het
St6galnac1	T	C	11: 116,657,899 (GRCm39)	T334A	possibly damaging	Het
Stim2	A	T	5: 54,156,263 (GRCm39)	D13V	possibly damaging	Het
Syne1	A	G	10: 5,181,592 (GRCm39)	W4248R	probably damaging	Het
Tanc1	T	C	2: 59,627,953 (GRCm39)	Y584H	probably benign	Het
Thoc6	C	A	17: 23,892,634 (GRCm39)		probably null	Het
Trim30a	T	A	7: 104,078,533 (GRCm39)	N181I	possibly damaging	Het
Trip11	T	A	12: 101,850,329 (GRCm39)	Q1245L	probably damaging	Het
Tshz3	A	G	7: 36,469,994 (GRCm39)	D661G	probably benign	Het
Ttll8	C	A	15: 88,799,630 (GRCm39)	V604L	probably damaging	Het
Ubtfl1	A	G	9: 18,320,931 (GRCm39)	D153G	probably damaging	Het
Ufsp2	C	A	8: 46,436,661 (GRCm39)	N137K	probably benign	Het
Ugt2a3	A	G	5: 87,473,393 (GRCm39)	I508T	possibly damaging	Het
Uso1	G	A	5: 92,306,324 (GRCm39)	E94K	probably benign	Het
Usp54	A	G	14: 20,611,310 (GRCm39)	S1169P	probably benign	Het
Vmn1r235	C	T	17: 21,482,292 (GRCm39)	P206S	probably benign	Het
Vmn1r69	T	C	7: 10,314,995 (GRCm39)		probably benign	Het
Zfp263	T	A	16: 3,567,255 (GRCm39)	C523*	probably null	Het
Zfp799	G	T	17: 33,039,210 (GRCm39)	T352K	probably benign	Het
Zfr	T	A	15: 12,180,724 (GRCm39)	V951E	probably damaging	Het
Zfyve26	T	C	12: 79,330,926 (GRCm39)	D431G	probably benign	Het
Zswim9	C	A	7: 12,993,664 (GRCm39)	A831S	probably damaging	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
R7030:Fmnl1	UTSW	11	103,085,600 (GRCm39)	unclassified	probably benign
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'- AAAGGCCTTGAATGTGTGTTGC -3'
(R):5'- GGCCTTGCCCCAGAATATAAC -3'

Sequencing Primer
(F):5'- CGGGTGGATACTTCTGGCC -3'
(R):5'- ACCCTCAAGAGACCCAGGG -3'

Posted On

2019-05-15