Mutagenetix > Incidental Mutation

Incidental Mutation 'R8955:Inf2'

681955

Institutional Source

Beutler Lab

Gene Symbol

Inf2

Ensembl Gene

ENSMUSG00000037679

Gene Name

inverted formin, FH2 and WH2 domain containing

Synonyms

2610204M08Rik, EG629699

MMRRC Submission

068791-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8955 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112555218-112581991 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112576998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 991 (I991V)

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: I991V

SMART Domains

Protein: ENSMUSP00000098591
Gene: ENSMUSG00000037679
AA Change: I991V

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: 99.9%
10x: 99.6%
20x: 98.7%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	C	T	15: 64,576,554 (GRCm39)	V1003I	possibly damaging	Het
Adgra3	T	A	5: 50,118,731 (GRCm39)	Y939F	probably benign	Het
Adra2b	T	C	2: 127,205,504 (GRCm39)	V2A	probably benign	Het
Aga	T	A	8: 53,974,164 (GRCm39)	Y296N	possibly damaging	Het
Apc	A	G	18: 34,401,370 (GRCm39)	Q52R	probably damaging	Het
Arfgef1	A	T	1: 10,270,062 (GRCm39)	S362R	probably benign	Het
Arhgef7	C	T	8: 11,808,451 (GRCm39)		probably benign	Het
Bmp5	A	T	9: 75,805,835 (GRCm39)	M446L	probably damaging	Het
Carmil3	C	T	14: 55,733,534 (GRCm39)	T350I	probably damaging	Het
Cd44	T	A	2: 102,683,363 (GRCm39)	T224S	probably damaging	Het
Cep112	A	T	11: 108,643,260 (GRCm39)	I7F	possibly damaging	Het
Chrna2	G	A	14: 66,379,681 (GRCm39)	A7T	probably benign	Het
Cldn16	G	A	16: 26,301,270 (GRCm39)	V193I	probably benign	Het
Clec4a3	G	A	6: 122,943,479 (GRCm39)	E100K	possibly damaging	Het
Cntln	C	T	4: 84,986,110 (GRCm39)	T1026I	possibly damaging	Het
Cyp4v3	T	A	8: 45,761,564 (GRCm39)	I420F	probably benign	Het
Dcbld2	G	A	16: 58,271,125 (GRCm39)	A301T		Het
Dnah1	A	T	14: 31,007,950 (GRCm39)	D2152E	probably benign	Het
Dpy19l4	A	G	4: 11,290,195 (GRCm39)	V179A	probably benign	Het
Dusp4	T	A	8: 35,284,462 (GRCm39)	I259N	probably damaging	Het
Enpp1	T	A	10: 24,544,926 (GRCm39)	I318F	probably benign	Het
Entpd6	T	C	2: 150,595,005 (GRCm39)	V15A	possibly damaging	Het
Epb41l1	C	G	2: 156,363,923 (GRCm39)	Q811E	probably benign	Het
Epb41l5	T	C	1: 119,570,292 (GRCm39)	H32R	probably damaging	Het
Fam135b	C	T	15: 71,334,063 (GRCm39)	V1044I	possibly damaging	Het
Fat4	A	T	3: 39,037,778 (GRCm39)	H3810L	probably benign	Het
Fbxw28	T	A	9: 109,167,857 (GRCm39)		probably null	Het
Flnb	T	G	14: 7,892,874 (GRCm38)	V648G	probably damaging	Het
Flnb	T	A	14: 7,904,688 (GRCm38)	Y1030*	probably null	Het
Fndc3a	T	C	14: 72,794,410 (GRCm39)	T787A	probably benign	Het
Gli2	T	A	1: 118,783,187 (GRCm39)	H106L	probably damaging	Het
Gm10283	T	A	8: 60,954,390 (GRCm39)		probably null	Het
Gm3336	C	T	8: 71,174,545 (GRCm39)	R67*	probably null	Het
Gsr	T	G	8: 34,183,936 (GRCm39)	I399M	possibly damaging	Het
Gtf2ird2	T	A	5: 134,245,596 (GRCm39)	M618K	probably damaging	Het
Gtf3c3	T	A	1: 54,462,722 (GRCm39)	D347V	probably benign	Het
Hspa12a	T	C	19: 58,788,058 (GRCm39)	Y588C	probably damaging	Het
Il20ra	A	G	10: 19,635,160 (GRCm39)	E467G	possibly damaging	Het
Irag2	A	T	6: 145,117,390 (GRCm39)	M376L	probably benign	Het
Irx6	T	C	8: 93,405,040 (GRCm39)	C303R	probably damaging	Het
Kcnmb4	T	A	10: 116,309,381 (GRCm39)	K16*	probably null	Het
Kirrel3	T	C	9: 34,855,738 (GRCm39)	L86P	probably damaging	Het
Lipo5	A	C	19: 33,450,530 (GRCm39)	F21V		Het
Lrrc31	T	A	3: 30,733,267 (GRCm39)	R482S	probably benign	Het
Lrrc3b	C	T	14: 15,358,159 (GRCm38)	C149Y	probably damaging	Het
Lrrk1	A	G	7: 65,919,573 (GRCm39)	M446T	probably benign	Het
Macroh2a2	A	T	10: 61,593,610 (GRCm39)	I22N	probably damaging	Het
Mettl14	C	T	3: 123,167,693 (GRCm39)	D222N	probably benign	Het
Mfsd4b3-ps	G	A	10: 39,824,072 (GRCm39)	H63Y	probably benign	Het
Myo16	T	C	8: 10,426,175 (GRCm39)	W311R	probably damaging	Het
Nccrp1	A	T	7: 28,245,628 (GRCm39)	N151K	probably benign	Het
Obsl1	T	C	1: 75,480,493 (GRCm39)	D377G	probably damaging	Het
Or5b97	T	A	19: 12,878,578 (GRCm39)	T189S	probably benign	Het
Or5p80	T	A	7: 108,229,506 (GRCm39)	C102*	probably null	Het
Or7c19	T	A	8: 85,957,913 (GRCm39)	I263N	probably benign	Het
Or7c70	G	T	10: 78,683,576 (GRCm39)	P58T	probably damaging	Het
Pigb	T	C	9: 72,945,983 (GRCm39)	N63S	probably damaging	Het
Plch2	T	C	4: 155,077,023 (GRCm39)	E577G	probably benign	Het
Prkab2	T	C	3: 97,573,943 (GRCm39)	V194A	probably benign	Het
Psd3	T	C	8: 68,416,461 (GRCm39)	I479V	probably benign	Het
Ralgapb	C	A	2: 158,279,264 (GRCm39)	P117T	probably benign	Het
Ralgapb	C	G	2: 158,337,389 (GRCm39)	T1116R	probably damaging	Het
Rpap2	T	A	5: 107,768,361 (GRCm39)	S400T	possibly damaging	Het
Rpgrip1l	C	A	8: 92,007,456 (GRCm39)	W378L	possibly damaging	Het
Rps20	T	A	4: 3,834,617 (GRCm39)	M82L	probably benign	Het
Rps5	T	C	7: 12,659,440 (GRCm39)	M77T	possibly damaging	Het
Scaf11	A	G	15: 96,318,371 (GRCm39)	S398P	probably damaging	Het
Sdf2	T	A	11: 78,145,763 (GRCm39)	D153E	probably benign	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Slc12a9	T	C	5: 137,329,270 (GRCm39)	N128S	probably damaging	Het
Slc25a32	C	A	15: 38,960,946 (GRCm39)	G246C	probably damaging	Het
Slc38a4	C	T	15: 96,914,662 (GRCm39)	A64T	probably benign	Het
Slit3	T	C	11: 35,589,207 (GRCm39)	V1254A	probably damaging	Het
Slx4	T	C	16: 3,808,111 (GRCm39)	K481R	probably benign	Het
Tcea1	A	G	1: 4,959,732 (GRCm39)	T136A	probably benign	Het
Thra	A	G	11: 98,644,449 (GRCm39)	D13G	possibly damaging	Het
Tmed9	G	A	13: 55,744,775 (GRCm39)	S227N	probably benign	Het
Trim80	C	A	11: 115,331,538 (GRCm39)	T20K	probably benign	Het
Trmt61a	G	T	12: 111,649,256 (GRCm39)	V276L	probably benign	Het
Trpc4ap	T	C	2: 155,508,171 (GRCm39)	D160G	possibly damaging	Het
Ubr5	C	T	15: 38,029,825 (GRCm39)	E467K		Het
Vars2	C	A	17: 35,972,541 (GRCm39)	G26W	probably damaging	Het
Vmn1r226	G	T	17: 20,908,287 (GRCm39)	R173L	possibly damaging	Het
Vmn1r29	G	T	6: 58,284,284 (GRCm39)	M1I	probably null	Het
Vmn2r3	G	T	3: 64,168,803 (GRCm39)	P578Q	possibly damaging	Het
Vmn2r57	A	T	7: 41,049,571 (GRCm39)	I726N	possibly damaging	Het
Zfp39	A	T	11: 58,780,946 (GRCm39)	Y605*	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
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
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'- TGCCCGTTTGTTCCAAGCTG -3'
(R):5'- CTGTCTTCCGTAGCTGGAAG -3'

Sequencing Primer
(F):5'- CTAGGTATGCGCCATGTGTCC -3'
(R):5'- AAGCCCTTCCTGATGTCGG -3'

Posted On

2021-08-31