Mutagenetix > Incidental Mutations

Incidental Mutation 'R1452:Inf2'

161094

Institutional Source

Beutler Lab

Gene Symbol

Inf2

Ensembl Gene

ENSMUSG00000037679

Gene Name

inverted formin, FH2 and WH2 domain containing

Synonyms

2610204M08Rik, EG629699

MMRRC Submission

039507-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1452 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112588784-112615557 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112601344 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 136 (N136S)

Ref Sequence

ENSEMBL: ENSMUSP00000098591 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101029] [ENSMUST00000220786]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000101029
AA Change: N136S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098591
Gene: ENSMUSG00000037679
AA Change: N136S

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: ENSMUST00000220786

Predicted Effect

probably benign
Transcript: ENSMUST00000222275

Meta Mutation Damage Score

0.1254

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.8%
20x: 87.5%

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	T	C	1: 93,152,939	Y415C	probably damaging	Het
2810474O19Rik	A	T	6: 149,326,632	K392I	probably damaging	Het
A2m	A	G	6: 121,678,056	I1446M	probably benign	Het
Acaca	T	A	11: 84,295,059		probably benign	Het
Adgre4	A	T	17: 55,784,996	E85D	probably benign	Het
Akt3	A	T	1: 177,131,067	Y26N	possibly damaging	Het
Arl15	T	C	13: 113,967,783	V132A	probably benign	Het
Atp6v1h	A	G	1: 5,098,137		probably benign	Het
Atrip	T	A	9: 109,072,659	D110V	probably damaging	Het
Bahcc1	T	G	11: 120,282,239		probably benign	Het
Cd53	C	T	3: 106,768,959	G31S	probably damaging	Het
Cdk14	T	C	5: 4,888,927	S404G	possibly damaging	Het
Cers3	A	T	7: 66,783,404	K156N	probably damaging	Het
Colgalt2	C	A	1: 152,504,153	L448M	probably damaging	Het
Cox15	G	T	19: 43,746,905	T141K	probably damaging	Het
Csnk2a2	C	T	8: 95,457,375		probably benign	Het
Cyp2b10	A	T	7: 25,925,388		probably benign	Het
Cyp2c55	A	G	19: 39,011,090	Y80C	probably damaging	Het
Depdc1a	A	G	3: 159,526,691	Y693C	possibly damaging	Het
Des	T	C	1: 75,363,477	S343P	probably damaging	Het
Dync1i2	T	C	2: 71,249,863		probably benign	Het
Eif3m	T	A	2: 105,006,777	Q199L	probably damaging	Het
Emsy	G	T	7: 98,600,674	T802K	probably damaging	Het
Endov	A	G	11: 119,491,825	T33A	probably damaging	Het
Epb41l5	G	A	1: 119,549,166	T728I	probably damaging	Het
Fbxo39	A	G	11: 72,318,402	I363V	probably benign	Het
Gm8674	C	T	13: 49,900,517		noncoding transcript	Het
Gm9733	G	T	3: 15,332,152	T24K	unknown	Het
Il6st	T	A	13: 112,481,464	N137K	possibly damaging	Het
Iqub	A	T	6: 24,491,559	I376N	probably benign	Het
Kansl3	A	G	1: 36,354,793		probably benign	Het
Kbtbd2	A	T	6: 56,781,924	H71Q	probably damaging	Het
Lgals8	G	T	13: 12,453,327	Y140*	probably null	Het
Macf1	T	A	4: 123,493,998	I924L	probably benign	Het
Mcoln2	A	T	3: 146,181,814	T329S	possibly damaging	Het
Mex3d	A	T	10: 80,381,520	L621Q	probably damaging	Het
Mut	A	G	17: 40,937,468		probably benign	Het
Ncor1	T	C	11: 62,334,631	H1038R	probably damaging	Het
Neb	A	G	2: 52,271,297		probably null	Het
Ngrn	A	G	7: 80,264,772	T224A	probably benign	Het
Nin	G	A	12: 70,017,650	R2019*	probably null	Het
Nphp4	C	G	4: 152,547,018	Q792E	probably damaging	Het
Olfr1047	T	A	2: 86,228,455	N172I	probably damaging	Het
Olfr1166	C	T	2: 88,124,311	V225I	probably benign	Het
Olfr140	C	T	2: 90,051,671	V218I	possibly damaging	Het
Olfr373	C	T	8: 72,100,176	Q139*	probably null	Het
Olfr70	C	T	4: 43,696,823	V117M	probably benign	Het
Pde4dip	C	A	3: 97,724,102	V1164L	probably damaging	Het
Plppr1	A	G	4: 49,301,067		probably benign	Het
Pole2	G	A	12: 69,207,929	L381F	probably benign	Het
Ppp2r5e	A	G	12: 75,469,536		probably benign	Het
Prim2	T	A	1: 33,630,404	E163D	probably benign	Het
Prrc2b	A	T	2: 32,194,985	D296V	probably damaging	Het
Pter	A	G	2: 12,978,621		probably benign	Het
Robo2	C	A	16: 73,961,910	V662L	probably damaging	Het
Slco1b2	A	T	6: 141,672,200	I424F	probably benign	Het
Snx29	A	T	16: 11,631,471	H260L	probably damaging	Het
Stil	A	G	4: 115,039,195	N959S	probably benign	Het
Taar8c	A	T	10: 24,101,610	D101E	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trpc6	G	A	9: 8,653,147	M573I	probably damaging	Het
Tsr1	A	T	11: 74,899,599	D171V	probably benign	Het
Ube4b	T	C	4: 149,371,169	T348A	probably damaging	Het
Vmn1r85	A	T	7: 13,084,881	I112N	probably damaging	Het
Vps36	A	G	8: 22,218,210		probably null	Het
Wdfy3	G	A	5: 101,937,738	A630V	possibly damaging	Het
Wdsub1	A	T	2: 59,876,800	D14E	probably null	Het
Ylpm1	T	C	12: 85,030,383	I1294T	possibly damaging	Het
Zdhhc17	A	G	10: 110,955,075	F378L	probably benign	Het

Other mutations in Inf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Inf2	APN	12	112611856	nonsense	probably null
IGL01582:Inf2	APN	12	112610559	missense	unknown
IGL02078:Inf2	APN	12	112601614	missense	probably damaging	1.00
IGL02534:Inf2	APN	12	112610496	missense	unknown
IGL03122:Inf2	APN	12	112604229	missense	probably benign	0.03
IGL03296:Inf2	APN	12	112604208	nonsense	probably null
Talon	UTSW	12	112610287	splice site	probably benign
R0413:Inf2	UTSW	12	112601676	missense	probably damaging	1.00
R0552:Inf2	UTSW	12	112612574	intron	probably benign
R0920:Inf2	UTSW	12	112610287	splice site	probably benign
R1240:Inf2	UTSW	12	112610776	missense	unknown
R1974:Inf2	UTSW	12	112608337	missense	unknown
R2422:Inf2	UTSW	12	112610824	missense	unknown
R3877:Inf2	UTSW	12	112610830	missense	unknown
R4108:Inf2	UTSW	12	112607581	missense	unknown
R4490:Inf2	UTSW	12	112600204	missense	probably damaging	1.00
R5071:Inf2	UTSW	12	112612039	splice site	probably null
R5074:Inf2	UTSW	12	112612039	splice site	probably null
R5306:Inf2	UTSW	12	112601553	missense	probably benign	0.26
R5383:Inf2	UTSW	12	112600145	missense	probably damaging	0.99
R5569:Inf2	UTSW	12	112601679	missense	possibly damaging	0.80
R5664:Inf2	UTSW	12	112611728	missense	unknown
R6157:Inf2	UTSW	12	112604788	unclassified	probably benign
R6221:Inf2	UTSW	12	112603745	missense	possibly damaging	0.66
R6429:Inf2	UTSW	12	112604256	missense	probably benign	0.01
R6955:Inf2	UTSW	12	112610731	missense	unknown
R7423:Inf2	UTSW	12	112609738	missense	unknown
R7444:Inf2	UTSW	12	112605387	missense	unknown
R7496:Inf2	UTSW	12	112600318	missense	probably damaging	1.00
R7605:Inf2	UTSW	12	112601337	missense	probably damaging	1.00
R7678:Inf2	UTSW	12	112606994	missense	unknown
R7708:Inf2	UTSW	12	112607557	missense	unknown
R7752:Inf2	UTSW	12	112609684	missense	unknown
R7903:Inf2	UTSW	12	112612554	missense	unknown
R8024:Inf2	UTSW	12	112608902	missense	unknown
R8118:Inf2	UTSW	12	112601437	missense	probably damaging	0.99
R8139:Inf2	UTSW	12	112601640	nonsense	probably null
R8229:Inf2	UTSW	12	112611596	missense	unknown
R8299:Inf2	UTSW	12	112604112	missense	probably benign	0.00
R8918:Inf2	UTSW	12	112606269	missense	unknown
R8955:Inf2	UTSW	12	112610564	missense	unknown
R8973:Inf2	UTSW	12	112607515	missense	unknown
R9171:Inf2	UTSW	12	112601531	nonsense	probably null
R9218:Inf2	UTSW	12	112601424	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TTTCCTGAAACGGCCTGCCTTGAC -3'
(R):5'- ACACTGAGCAGGGTGACCACATAG -3'

Sequencing Primer
(F):5'- CTTGACCCGAGAGGAGAAGTC -3'
(R):5'- ACATAGGGCACGTTGTCACTG -3'

Posted On

2014-03-14