Mutagenetix > Incidental Mutation

Incidental Mutation 'R9779:Inf2'

733931

Institutional Source

Beutler Lab

Gene Symbol

Inf2

Ensembl Gene

ENSMUSG00000037679

Gene Name

inverted formin, FH2 and WH2 domain containing

Synonyms

2610204M08Rik, EG629699

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9779 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112555218-112581991 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 112574786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 786 (P786T)

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: P786T

SMART Domains

Protein: ENSMUSP00000098591
Gene: ENSMUSG00000037679
AA Change: P786T

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: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.6%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	T	G	11: 53,263,734 (GRCm39)	Y251*	probably null	Het
Amdhd1	G	T	10: 93,370,474 (GRCm39)	F121L	possibly damaging	Het
Apon	A	T	10: 128,091,065 (GRCm39)	T248S	probably benign	Het
Arhgap28	A	T	17: 68,152,764 (GRCm39)	I719K	probably benign	Het
Atf7ip2	A	T	16: 10,055,044 (GRCm39)	K270N	possibly damaging	Het
Atp2c1	A	G	9: 105,291,919 (GRCm39)	V881A	probably damaging	Het
Atp6v0a1	C	T	11: 100,924,938 (GRCm39)	T341M	probably damaging	Het
Cep192	T	C	18: 67,968,348 (GRCm39)	V944A	probably damaging	Het
Cplane1	C	A	15: 8,230,786 (GRCm39)	T1021K	possibly damaging	Het
Cyp26b1	T	C	6: 84,552,113 (GRCm39)	T342A	probably benign	Het
Cyp2c37	A	G	19: 39,998,323 (GRCm39)	E405G	probably benign	Het
Dab2	T	C	15: 6,460,525 (GRCm39)	S478P	probably benign	Het
Diablo	A	G	5: 123,662,132 (GRCm39)		probably null	Het
Dnajc8	A	G	4: 132,277,737 (GRCm39)	E174G	possibly damaging	Het
Eif4g1	T	C	16: 20,498,251 (GRCm39)	V336A	probably damaging	Het
Eif5a	C	T	11: 69,810,021 (GRCm39)	V41I	probably benign	Het
Epb41l5	C	T	1: 119,545,093 (GRCm39)		probably null	Het
F12	A	C	13: 55,566,012 (GRCm39)	V565G	probably damaging	Het
Fras1	C	A	5: 96,717,353 (GRCm39)	T389N	probably damaging	Het
Galnt13	T	A	2: 54,623,062 (GRCm39)	D69E	probably benign	Het
Golph3l	C	T	3: 95,499,041 (GRCm39)	T61I	probably damaging	Het
Grm3	A	T	5: 9,561,656 (GRCm39)	N731K	possibly damaging	Het
Hmgxb4	C	T	8: 75,750,629 (GRCm39)	S484F	possibly damaging	Het
Hsd17b11	C	A	5: 104,157,771 (GRCm39)	V114F	probably damaging	Het
Hspa1a	C	T	17: 35,190,778 (GRCm39)	V42M	probably damaging	Het
Igf1r	A	G	7: 67,654,065 (GRCm39)	Y201C	probably damaging	Het
Ints12	T	G	3: 132,812,752 (GRCm39)	V236G	probably benign	Het
Itga2b	T	C	11: 102,348,147 (GRCm39)	N818S	probably damaging	Het
Itgb4	T	C	11: 115,882,485 (GRCm39)	L853P	probably damaging	Het
Kap	A	G	6: 133,829,006 (GRCm39)	V42A	probably benign	Het
Kcnk1	T	C	8: 126,751,807 (GRCm39)	S138P	probably damaging	Het
Klra2	G	A	6: 131,198,801 (GRCm39)	P247S	unknown	Het
Lrba	T	C	3: 86,233,078 (GRCm39)	I813T	probably damaging	Het
Lrrc27	A	T	7: 138,816,886 (GRCm39)	Q428L	possibly damaging	Het
Macf1	G	A	4: 123,348,789 (GRCm39)	T4046I	probably benign	Het
Mast3	T	C	8: 71,238,127 (GRCm39)	T521A	probably damaging	Het
Meox1	T	C	11: 101,769,470 (GRCm39)	E242G	probably benign	Het
Neo1	A	T	9: 58,886,009 (GRCm39)	L316*	probably null	Het
Notch3	A	G	17: 32,372,757 (GRCm39)	Y605H	probably damaging	Het
Nsf	T	C	11: 103,719,352 (GRCm39)	D650G	probably damaging	Het
Obscn	C	A	11: 59,026,441 (GRCm39)	R254L	probably benign	Het
Odam	G	A	5: 88,037,327 (GRCm39)		probably null	Het
Or5v1b	A	T	17: 37,841,048 (GRCm39)	Y60F	probably damaging	Het
Or7g12	A	T	9: 18,900,135 (GRCm39)	M284L	probably benign	Het
Pcdhb9	A	T	18: 37,535,253 (GRCm39)	M416L	probably benign	Het
Plcz1	A	T	6: 139,947,882 (GRCm39)	I500N	possibly damaging	Het
Prkn	T	C	17: 11,854,318 (GRCm39)	S285P	possibly damaging	Het
Rab14	G	A	2: 35,080,047 (GRCm39)	T50I		Het
Rag1	A	T	2: 101,474,153 (GRCm39)	Y330N	probably damaging	Het
Rapgef3	T	C	15: 97,643,479 (GRCm39)	I911V	probably damaging	Het
Rasgrf1	G	T	9: 89,873,551 (GRCm39)	C620F	probably damaging	Het
Rhbdl3	A	G	11: 80,214,317 (GRCm39)	T143A	probably damaging	Het
Robo2	A	C	16: 73,767,965 (GRCm39)	M609R	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Slc49a4	T	C	16: 35,543,186 (GRCm39)	D316G	probably benign	Het
Sod3	G	A	5: 52,525,435 (GRCm39)	V45I	probably benign	Het
Ticrr	A	G	7: 79,328,802 (GRCm39)	D647G	probably benign	Het
Tmem119	G	A	5: 113,933,204 (GRCm39)	S199L	possibly damaging	Het
Tmem63c	T	A	12: 87,104,419 (GRCm39)	I80N	probably damaging	Het
Trp53bp1	A	T	2: 121,066,469 (GRCm39)	D752E	probably damaging	Het
Ttn	A	G	2: 76,550,570 (GRCm39)	S31571P	probably damaging	Het
Ttn	A	T	2: 76,667,146 (GRCm39)	S11487T	unknown	Het
Vmn1r123	T	C	7: 20,896,111 (GRCm39)	M1T	probably null	Het
Vmn1r85	A	T	7: 12,818,308 (GRCm39)	S279T	probably benign	Het
Vps13d	A	G	4: 144,798,972 (GRCm39)	V3635A		Het
Wdr95	A	G	5: 149,505,293 (GRCm39)	D358G	probably benign	Het
Zfp1005	A	G	2: 150,108,064 (GRCm39)	D8G	possibly damaging	Het
Zfp764l1	A	T	7: 126,991,469 (GRCm39)	C173S	probably damaging	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
R7444:Inf2	UTSW	12	112,571,821 (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

Predicted Primers

PCR Primer
(F):5'- ATACACCTGCTGAAGCTGAGG -3'
(R):5'- TCTGTGAGCTTCAGCAAGG -3'

Sequencing Primer
(F):5'- GTCCAGCAGACGTGAACACTG -3'
(R):5'- GGTGCTAATCTTGAAACCATCTGC -3'

Posted On

2022-11-14