Mutagenetix > Incidental Mutation

Incidental Mutation 'R8024:Inf2'

617602

Institutional Source

Beutler Lab

Gene Symbol

Inf2

Ensembl Gene

ENSMUSG00000037679

Gene Name

inverted formin, FH2 and WH2 domain containing

Synonyms

2610204M08Rik, EG629699

MMRRC Submission

067463-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8024 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112555218-112581991 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 112575336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 856 (P856S)

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: P856S

SMART Domains

Protein: ENSMUSP00000098591
Gene: ENSMUSG00000037679
AA Change: P856S

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

probably benign
Transcript: ENSMUST00000222275
AA Change: P313S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (74/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,760,713 (GRCm39)	N1257Y	probably benign	Het
2310057J18Rik	A	T	10: 28,858,591 (GRCm39)	Y133*	probably null	Het
2310057J18Rik	A	C	10: 28,862,213 (GRCm39)	S26A	possibly damaging	Het
9930012K11Rik	G	T	14: 70,394,116 (GRCm39)	P220T	probably damaging	Het
Adam1b	A	C	5: 121,638,986 (GRCm39)	S686R	probably benign	Het
Adam8	T	C	7: 139,567,489 (GRCm39)	D418G	probably damaging	Het
Adcy8	A	G	15: 64,792,095 (GRCm39)	L287P	probably damaging	Het
Adhfe1	T	A	1: 9,634,080 (GRCm39)	M373K	probably benign	Het
Alpk2	T	C	18: 65,438,106 (GRCm39)	S1096G	probably benign	Het
Ankmy1	A	G	1: 92,812,716 (GRCm39)	V531A	probably benign	Het
Ano3	C	T	2: 110,498,128 (GRCm39)	E738K	probably damaging	Het
Ano4	T	A	10: 88,807,194 (GRCm39)	I796F	probably damaging	Het
Apeh	T	C	9: 107,969,790 (GRCm39)	E190G	probably benign	Het
Atpsckmt	T	C	15: 31,608,317 (GRCm39)	Y123H	probably damaging	Het
Cadm3	A	G	1: 173,165,622 (GRCm39)	L346P	probably damaging	Het
Ccdc9b	A	G	2: 118,591,005 (GRCm39)		probably null	Het
Clec2e	G	A	6: 129,071,388 (GRCm39)	H150Y	possibly damaging	Het
Cnga4	A	T	7: 105,056,042 (GRCm39)	N318Y	probably damaging	Het
Cnr2	T	A	4: 135,644,196 (GRCm39)	F91L	probably damaging	Het
Diaph3	T	A	14: 86,893,835 (GRCm39)	E1147V	probably damaging	Het
Elmo2	T	C	2: 165,133,775 (GRCm39)	T738A	unknown	Het
Exoc4	T	A	6: 33,324,866 (GRCm39)	W387R	probably damaging	Het
Focad	T	C	4: 88,315,237 (GRCm39)	V1379A	unknown	Het
Frmd4a	T	C	2: 4,608,513 (GRCm39)	S794P	probably damaging	Het
Ftl1-ps1	A	G	13: 74,555,170 (GRCm39)	T150A	probably benign	Het
Gm43517	A	T	12: 49,436,409 (GRCm39)		probably benign	Het
Gm5773	C	T	3: 93,680,475 (GRCm39)	A49V	probably benign	Het
Helz	T	A	11: 107,577,247 (GRCm39)	L1867Q	unknown	Het
Il22ra1	A	G	4: 135,461,589 (GRCm39)	H118R	probably benign	Het
Ints5	T	A	19: 8,873,504 (GRCm39)	L488I	probably damaging	Het
Iqca1l	A	G	5: 24,755,634 (GRCm39)	M296T	possibly damaging	Het
Kifc1	G	A	17: 34,102,177 (GRCm39)	R479C	probably damaging	Het
Lrba	T	A	3: 86,202,708 (GRCm39)	C289*	probably null	Het
Mael	A	G	1: 166,054,196 (GRCm39)	L196S	probably damaging	Het
Med23	T	A	10: 24,755,581 (GRCm39)	S229R	possibly damaging	Het
Mroh9	T	C	1: 162,866,802 (GRCm39)	N645D	probably benign	Het
Myom3	G	A	4: 135,529,059 (GRCm39)	V1132I	probably benign	Het
Naalad2	T	G	9: 18,308,769 (GRCm39)		probably benign	Het
Ndufa13	A	T	8: 70,347,187 (GRCm39)	L71H	probably damaging	Het
Nepro	A	T	16: 44,551,778 (GRCm39)	H212L	probably benign	Het
Nmd3	T	A	3: 69,637,298 (GRCm39)		probably benign	Het
Nox4	T	A	7: 86,954,118 (GRCm39)	L141Q	probably damaging	Het
Or4a81	T	C	2: 89,619,390 (GRCm39)	E102G	probably benign	Het
Or5p53	T	C	7: 107,533,645 (GRCm39)	V306A	probably benign	Het
Or5p58	T	A	7: 107,694,496 (GRCm39)	T94S	probably benign	Het
Or6c215	T	G	10: 129,637,812 (GRCm39)	E194A	probably damaging	Het
Or8s2	T	A	15: 98,276,878 (GRCm39)	M38L	probably benign	Het
Pfpl	A	G	19: 12,407,570 (GRCm39)	D607G	possibly damaging	Het
Pkd1l2	A	T	8: 117,802,921 (GRCm39)	F233L	possibly damaging	Het
Prl6a1	A	G	13: 27,502,678 (GRCm39)		probably benign	Het
Ptprz1	A	T	6: 23,042,750 (GRCm39)	E2058V	probably damaging	Het
Rag1	A	T	2: 101,472,852 (GRCm39)	N763K	probably damaging	Het
Rhbg	A	C	3: 88,155,760 (GRCm39)	D63E	probably damaging	Het
Rrm1	T	A	7: 102,106,472 (GRCm39)	F330L	probably benign	Het
Scaf8	A	T	17: 3,209,568 (GRCm39)	Q97L	unknown	Het
Sdr9c7	G	A	10: 127,734,751 (GRCm39)	V80I	probably benign	Het
Slc18a1	A	G	8: 69,527,799 (GRCm39)	V4A	probably benign	Het
Slco3a1	T	A	7: 74,204,218 (GRCm39)	I41F	probably benign	Het
Slirp	T	C	12: 87,494,370 (GRCm39)	V45A	probably damaging	Het
Spata31	A	T	13: 65,070,618 (GRCm39)	Q922L	probably benign	Het
Spg11	A	G	2: 121,927,802 (GRCm39)	S661P	possibly damaging	Het
Stab2	G	T	10: 86,681,916 (GRCm39)	T2495K	probably benign	Het
Supt16	A	G	14: 52,408,332 (GRCm39)	I871T	probably damaging	Het
Sval2	A	G	6: 41,837,298 (GRCm39)	Q9R	probably damaging	Het
Syngap1	A	T	17: 27,160,426 (GRCm39)	M1L	probably benign	Het
Tfpi	A	T	2: 84,284,266 (GRCm39)	M62K	possibly damaging	Het
Tm4sf1	A	T	3: 57,195,186 (GRCm39)	Y200*	probably null	Het
Tmc1	A	T	19: 20,878,181 (GRCm39)	W105R	probably damaging	Het
Tmtc2	T	C	10: 105,025,987 (GRCm39)	E827G	probably benign	Het
Tollip	T	C	7: 141,446,563 (GRCm39)	I33V	probably benign	Het
Unc80	T	A	1: 66,645,803 (GRCm39)	V1493D	possibly damaging	Het
Vmn2r6	G	A	3: 64,467,245 (GRCm39)	R85W	probably benign	Het
Vwa5a	C	A	9: 38,647,316 (GRCm39)	S565*	probably null	Het
Xbp1	T	A	11: 5,471,910 (GRCm39)	V12D	probably benign	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
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'- TCTTGAGACTGAGCCACAAC -3'
(R):5'- TATAGCTGACACAGTCCTGACC -3'

Sequencing Primer
(F):5'- CCCCCATACATGTTGGGACAG -3'
(R):5'- GTCCTGACCCACCATAAGCGTC -3'

Posted On

2020-01-23