Mutagenetix > Incidental Mutation

Incidental Mutation 'R7444:Inf2'

577184

Institutional Source

Beutler Lab

Gene Symbol

Inf2

Ensembl Gene

ENSMUSG00000037679

Gene Name

inverted formin, FH2 and WH2 domain containing

Synonyms

2610204M08Rik, EG629699

MMRRC Submission

045520-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7444 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112555218-112581991 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112571821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 617 (W617R)

Ref Sequence

ENSEMBL: ENSMUSP00000098591 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101029]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000101029
AA Change: W617R

SMART Domains

Protein: ENSMUSP00000098591
Gene: ENSMUSG00000037679
AA Change: W617R

Domain	Start	End	E-Value	Type
Drf_GBD	1	152	3.47e-34	SMART
Drf_FH3	156	343	2.18e-58	SMART
low complexity region	359	382	N/A	INTRINSIC
low complexity region	420	518	N/A	INTRINSIC
low complexity region	525	557	N/A	INTRINSIC
FH2	587	1030	1.96e-53	SMART
WH2	1005	1020	1.68e-2	SMART
Blast:FH2	1049	1179	3e-28	BLAST

Predicted Effect

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a null allele display placental vasculopathy, restricted fetal growth, increased gestational length and transient increase in maternal blood pressure in the late stages of pregnancy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,984,787 (GRCm39)	M2024V	probably benign	Het
Ahnak2	T	A	12: 112,745,831 (GRCm39)	Q1673L		Het
Atic	G	T	1: 71,602,946 (GRCm39)	V107L	probably benign	Het
B2m	A	G	2: 121,981,416 (GRCm39)	N44D	probably damaging	Het
Bud13	A	G	9: 46,209,799 (GRCm39)	D636G	probably damaging	Het
Cenpk	T	C	13: 104,386,025 (GRCm39)	*307Q	probably null	Het
Cep68	A	G	11: 20,189,438 (GRCm39)	S525P	probably benign	Het
Clca3a1	A	G	3: 144,733,193 (GRCm39)	L105P	probably damaging	Het
Cntnap5a	A	T	1: 116,220,079 (GRCm39)	M630L	probably benign	Het
Cpb2	A	G	14: 75,520,782 (GRCm39)	Y399C	probably damaging	Het
Dars2	G	T	1: 160,874,454 (GRCm39)	P412T	possibly damaging	Het
E2f8	A	T	7: 48,517,927 (GRCm39)	I665N	probably damaging	Het
Epha4	A	T	1: 77,364,553 (GRCm39)	I652N	probably damaging	Het
Ermn	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	2: 57,938,079 (GRCm39)		probably benign	Het
Flrt3	T	C	2: 140,502,387 (GRCm39)	T414A	probably benign	Het
Fmn1	A	T	2: 113,271,956 (GRCm39)	Q108L	unknown	Het
Fosb	T	C	7: 19,041,199 (GRCm39)	D98G	possibly damaging	Het
Gm5773	T	C	3: 93,680,850 (GRCm39)	L174S	probably damaging	Het
Hectd3	T	A	4: 116,854,124 (GRCm39)	V258E	possibly damaging	Het
Irf7	T	A	7: 140,843,599 (GRCm39)	I358F	probably damaging	Het
Lipo3	A	G	19: 33,535,663 (GRCm39)		probably null	Het
Lrig2	A	T	3: 104,404,829 (GRCm39)	L93*	probably null	Het
Lzts1	C	T	8: 69,588,331 (GRCm39)	V542M	probably damaging	Het
Mefv	T	A	16: 3,533,386 (GRCm39)	H295L	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 67,313,200 (GRCm39)		probably benign	Het
Nat8f6	G	C	6: 85,786,112 (GRCm39)	S12R	probably benign	Het
Nipal4	G	T	11: 46,057,062 (GRCm39)	N14K	probably benign	Het
Nlrp4c	T	A	7: 6,095,595 (GRCm39)	C824*	probably null	Het
Npat	T	C	9: 53,460,210 (GRCm39)	S53P	probably damaging	Het
Nrxn3	A	G	12: 89,477,464 (GRCm39)	E549G	probably damaging	Het
Or10a5	T	C	7: 106,635,554 (GRCm39)	L64P	probably damaging	Het
Or12e8	T	A	2: 87,188,444 (GRCm39)	L219I	possibly damaging	Het
Or1r1	T	C	11: 73,874,576 (GRCm39)	N286S	probably damaging	Het
Or4a80	T	C	2: 89,583,103 (GRCm39)	K23R	probably benign	Het
Or4f62	A	T	2: 111,987,060 (GRCm39)	I255F	probably damaging	Het
Or5p55	T	A	7: 107,566,811 (GRCm39)	V69E	probably damaging	Het
Or6c6b	T	C	10: 129,147,559 (GRCm39)	M61T	probably benign	Het
Or6z6	C	A	7: 6,490,919 (GRCm39)	W311L	probably benign	Het
Pcdhb11	T	A	18: 37,555,672 (GRCm39)	I334K	probably damaging	Het
Pcdhb4	T	C	18: 37,442,505 (GRCm39)	L605P	probably damaging	Het
Pced1a	G	T	2: 130,263,979 (GRCm39)	H224Q	probably damaging	Het
Pde6b	C	A	5: 108,575,008 (GRCm39)	S623*	probably null	Het
Pgr	T	C	9: 8,946,883 (GRCm39)	L708P	probably damaging	Het
Pnpla1	T	C	17: 29,097,455 (GRCm39)	I207T	possibly damaging	Het
Prkag3	A	T	1: 74,786,425 (GRCm39)	D173E	probably benign	Het
Prrt4	A	G	6: 29,176,516 (GRCm39)	F270L	probably benign	Het
Ptdss2	C	A	7: 140,732,997 (GRCm39)	P260Q	possibly damaging	Het
Rftn1	T	A	17: 50,354,435 (GRCm39)	N309I	probably damaging	Het
Rgs12	T	C	5: 35,183,287 (GRCm39)	V978A	possibly damaging	Het
Rnf111	T	C	9: 70,348,125 (GRCm39)	Y816C	probably damaging	Het
Rnf208	C	T	2: 25,133,326 (GRCm39)	P7S	probably damaging	Het
Rnf24	T	C	2: 131,155,215 (GRCm39)	D4G	probably damaging	Het
Ryr2	T	A	13: 11,570,349 (GRCm39)	I4925L	probably benign	Het
S1pr5	A	T	9: 21,156,378 (GRCm39)	V16D	possibly damaging	Het
Scgb1b24	A	G	7: 33,443,566 (GRCm39)	D75G	possibly damaging	Het
Setdb2	A	T	14: 59,660,794 (GRCm39)	C116*	probably null	Het
Sh3rf2	G	A	18: 42,234,604 (GRCm39)	R129Q	probably damaging	Het
Spata31d1d	C	T	13: 59,875,007 (GRCm39)	V843I	probably benign	Het
Steap3	A	C	1: 120,169,248 (GRCm39)	F350V	probably benign	Het
Tecrl	T	A	5: 83,502,915 (GRCm39)		probably benign	Het
Tex15	T	A	8: 34,066,590 (GRCm39)	S2007T	possibly damaging	Het
Tomm7	C	A	5: 24,049,155 (GRCm39)		probably benign	Het
Trpv1	A	C	11: 73,135,030 (GRCm39)	N409T	possibly damaging	Het
Try5	T	A	6: 41,288,299 (GRCm39)	Y218F	probably benign	Het
Tspan5	A	T	3: 138,603,883 (GRCm39)	I196F	possibly damaging	Het
Wdhd1	A	T	14: 47,489,405 (GRCm39)	C709*	probably null	Het

Other mutations in Inf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Inf2	APN	12	112,578,290 (GRCm39)	nonsense	probably null
IGL01582:Inf2	APN	12	112,576,993 (GRCm39)	missense	unknown
IGL02078:Inf2	APN	12	112,568,048 (GRCm39)	missense	probably damaging	1.00
IGL02534:Inf2	APN	12	112,576,930 (GRCm39)	missense	unknown
IGL03122:Inf2	APN	12	112,570,663 (GRCm39)	missense	probably benign	0.03
IGL03296:Inf2	APN	12	112,570,642 (GRCm39)	nonsense	probably null
Talon	UTSW	12	112,576,721 (GRCm39)	splice site	probably benign
R0413:Inf2	UTSW	12	112,568,110 (GRCm39)	missense	probably damaging	1.00
R0552:Inf2	UTSW	12	112,579,008 (GRCm39)	intron	probably benign
R0920:Inf2	UTSW	12	112,576,721 (GRCm39)	splice site	probably benign
R1240:Inf2	UTSW	12	112,577,210 (GRCm39)	missense	unknown
R1452:Inf2	UTSW	12	112,567,778 (GRCm39)	missense	probably damaging	0.99
R1974:Inf2	UTSW	12	112,574,771 (GRCm39)	missense	unknown
R2422:Inf2	UTSW	12	112,577,258 (GRCm39)	missense	unknown
R3877:Inf2	UTSW	12	112,577,264 (GRCm39)	missense	unknown
R4108:Inf2	UTSW	12	112,574,015 (GRCm39)	missense	unknown
R4490:Inf2	UTSW	12	112,566,638 (GRCm39)	missense	probably damaging	1.00
R5071:Inf2	UTSW	12	112,578,473 (GRCm39)	splice site	probably null
R5074:Inf2	UTSW	12	112,578,473 (GRCm39)	splice site	probably null
R5306:Inf2	UTSW	12	112,567,987 (GRCm39)	missense	probably benign	0.26
R5383:Inf2	UTSW	12	112,566,579 (GRCm39)	missense	probably damaging	0.99
R5569:Inf2	UTSW	12	112,568,113 (GRCm39)	missense	possibly damaging	0.80
R5664:Inf2	UTSW	12	112,578,162 (GRCm39)	missense	unknown
R6157:Inf2	UTSW	12	112,571,222 (GRCm39)	unclassified	probably benign
R6221:Inf2	UTSW	12	112,570,179 (GRCm39)	missense	possibly damaging	0.66
R6429:Inf2	UTSW	12	112,570,690 (GRCm39)	missense	probably benign	0.01
R6955:Inf2	UTSW	12	112,577,165 (GRCm39)	missense	unknown
R7423:Inf2	UTSW	12	112,576,172 (GRCm39)	missense	unknown
R7496:Inf2	UTSW	12	112,566,752 (GRCm39)	missense	probably damaging	1.00
R7605:Inf2	UTSW	12	112,567,771 (GRCm39)	missense	probably damaging	1.00
R7678:Inf2	UTSW	12	112,573,428 (GRCm39)	missense	unknown
R7708:Inf2	UTSW	12	112,573,991 (GRCm39)	missense	unknown
R7752:Inf2	UTSW	12	112,576,118 (GRCm39)	missense	unknown
R7903:Inf2	UTSW	12	112,578,988 (GRCm39)	missense	unknown
R8024:Inf2	UTSW	12	112,575,336 (GRCm39)	missense	unknown
R8118:Inf2	UTSW	12	112,567,871 (GRCm39)	missense	probably damaging	0.99
R8139:Inf2	UTSW	12	112,568,074 (GRCm39)	nonsense	probably null
R8229:Inf2	UTSW	12	112,578,030 (GRCm39)	missense	unknown
R8299:Inf2	UTSW	12	112,570,546 (GRCm39)	missense	probably benign	0.00
R8918:Inf2	UTSW	12	112,572,703 (GRCm39)	missense	unknown
R8955:Inf2	UTSW	12	112,576,998 (GRCm39)	missense	unknown
R8973:Inf2	UTSW	12	112,573,949 (GRCm39)	missense	unknown
R9171:Inf2	UTSW	12	112,567,965 (GRCm39)	nonsense	probably null
R9218:Inf2	UTSW	12	112,567,858 (GRCm39)	missense	possibly damaging	0.95
R9779:Inf2	UTSW	12	112,574,786 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACATGTGTACATAGCGTGGAGG -3'
(R):5'- CCATTTAGCTGGTATCTGGAGG -3'

Sequencing Primer
(F):5'- GGTGGATGATGCATTCAACCC -3'
(R):5'- GGCAGAGGATGTCTCACACAC -3'

Posted On

2019-10-07