Mutagenetix > Incidental Mutation

Incidental Mutation 'R8118:Inf2'

631358

Institutional Source

Beutler Lab

Gene Symbol

Inf2

Ensembl Gene

ENSMUSG00000037679

Gene Name

inverted formin, FH2 and WH2 domain containing

Synonyms

2610204M08Rik, EG629699

MMRRC Submission

067547-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8118 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112588784-112615557 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112601437 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 167 (H167L)

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: H167L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098591
Gene: ENSMUSG00000037679
AA Change: H167L

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

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.2%
20x: 91.1%

Validation Efficiency

97% (68/70)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	T	C	16: 85,795,933 (GRCm38)	D792G	probably damaging	Het
Adcy7	A	G	8: 88,315,756 (GRCm38)	H417R	probably damaging	Het
Agr2	A	G	12: 35,996,107 (GRCm38)	D79G	probably benign	Het
Ankle1	T	C	8: 71,407,635 (GRCm38)	S286P	probably benign	Het
Arhgef11	T	C	3: 87,735,857 (GRCm38)	S1488P	probably damaging	Het
Atp6v0a2	T	C	5: 124,712,773 (GRCm38)	M421T	probably damaging	Het
Cdk17	C	A	10: 93,216,390 (GRCm38)	Q111K	possibly damaging	Het
Cobl	A	G	11: 12,254,834 (GRCm38)	S623P	probably benign	Het
Dgka	C	T	10: 128,722,449 (GRCm38)		probably null	Het
Dsc2	C	T	18: 20,032,274 (GRCm38)	G881R	possibly damaging	Het
Dsg2	A	G	18: 20,582,801 (GRCm38)	I267V	probably benign	Het
Exoc4	T	C	6: 33,971,918 (GRCm38)	Y899H	probably damaging	Het
Fat3	A	G	9: 15,960,104 (GRCm38)	F3664L	probably benign	Het
Fbxo47	C	T	11: 97,879,515 (GRCm38)	C17Y	probably benign	Het
Gm2888	G	T	14: 3,037,628 (GRCm38)	V207F	probably benign	Het
Gm7030	C	T	17: 36,127,690 (GRCm38)	V270M	probably damaging	Het
Gpr61	A	G	3: 108,150,572 (GRCm38)	S258P	probably damaging	Het
Hectd4	C	T	5: 121,286,376 (GRCm38)	H700Y	probably benign	Het
Hs3st2	C	T	7: 121,397,428 (GRCm38)	T154I	probably benign	Het
Ints3	C	T	3: 90,400,299 (GRCm38)		probably null	Het
Ippk	C	T	13: 49,446,342 (GRCm38)	P226S		Het
Itgal	C	A	7: 127,311,245 (GRCm38)	Q509K	probably benign	Het
Klhl20	A	T	1: 161,098,401 (GRCm38)		probably null	Het
Krtap4-13	C	T	11: 99,809,398 (GRCm38)	C145Y	unknown	Het
Large1	A	G	8: 73,131,944 (GRCm38)	S99P	probably benign	Het
Lexm	T	A	4: 106,613,398 (GRCm38)	R192S	possibly damaging	Het
Lrba	A	T	3: 86,354,226 (GRCm38)	I1496L	probably benign	Het
Map2	A	T	1: 66,425,391 (GRCm38)	I1647F	probably damaging	Het
Map3k10	A	G	7: 27,673,417 (GRCm38)	V203A	possibly damaging	Het
Mcmdc2	T	A	1: 9,916,374 (GRCm38)	N166K	possibly damaging	Het
Mlxipl	T	G	5: 135,137,248 (GRCm38)	L828R	possibly damaging	Het
Mnat1	A	G	12: 73,219,090 (GRCm38)	I253V	probably benign	Het
Mtfp1	A	G	11: 4,093,910 (GRCm38)	S107P	probably damaging	Het
Nebl	T	A	2: 17,379,820 (GRCm38)	Y65F	possibly damaging	Het
Nelfb	A	T	2: 25,205,159 (GRCm38)	D339E	possibly damaging	Het
Nlrc3	T	A	16: 3,965,631 (GRCm38)	I20L	probably benign	Het
Nup205	T	A	6: 35,230,516 (GRCm38)	M1501K	probably benign	Het
Olfr1487	T	A	19: 13,619,745 (GRCm38)	N151K	probably damaging	Het
Olfr304	A	T	7: 86,385,768 (GRCm38)	C297*	probably null	Het
Olfr51	A	G	11: 51,007,500 (GRCm38)	H176R	probably damaging	Het
Olfr720	A	G	14: 14,175,863 (GRCm38)	I73T	probably damaging	Het
Olfr725	T	C	14: 50,035,151 (GRCm38)	D84G	probably benign	Het
Olfr998	T	A	2: 85,590,988 (GRCm38)	Y149*	probably null	Het
Palm3	A	G	8: 84,029,809 (GRCm38)	E650G	probably damaging	Het
Prps1l1	C	A	12: 34,985,341 (GRCm38)	L152M	probably damaging	Het
Rgs7bp	C	A	13: 105,053,121 (GRCm38)	V57F	probably damaging	Het
Scaf8	T	A	17: 3,164,183 (GRCm38)	V171D	unknown	Het
Sf3a2	T	C	10: 80,803,640 (GRCm38)	Y155H	probably damaging	Het
Sfrp1	T	G	8: 23,411,984 (GRCm38)	L67R	probably damaging	Het
Shank2	A	T	7: 144,409,875 (GRCm38)	I407L	probably benign	Het
Skint6	A	C	4: 113,156,494 (GRCm38)	S353R	possibly damaging	Het
Skint6	T	C	4: 112,865,675 (GRCm38)	T902A	possibly damaging	Het
Srrm2	T	A	17: 23,808,083 (GRCm38)	I87N	unknown	Het
Stard9	G	A	2: 120,704,430 (GRCm38)	G3723S	probably benign	Het
Svs3b	A	G	2: 164,256,006 (GRCm38)	S132P	probably damaging	Het
Tbc1d17	G	T	7: 44,843,002 (GRCm38)	F412L	probably benign	Het
Tex29	A	T	8: 11,854,263 (GRCm38)	E116D	unknown	Het
Tmem204	T	C	17: 25,080,338 (GRCm38)	D69G	possibly damaging	Het
Ttll10	G	A	4: 156,044,762 (GRCm38)	R308C	probably benign	Het
Ttn	T	A	2: 76,747,164 (GRCm38)	I24462F	probably damaging	Het
Tubg2	A	G	11: 101,161,478 (GRCm38)	E411G	probably damaging	Het
Ugt2b38	T	C	5: 87,423,771 (GRCm38)	N134S	probably damaging	Het
Usp31	T	C	7: 121,677,262 (GRCm38)	T351A	probably damaging	Het
Usp33	T	C	3: 152,360,359 (GRCm38)	L92S	probably damaging	Het
Vmn2r20	A	T	6: 123,396,470 (GRCm38)	I471N	probably damaging	Het
Wdfy4	G	A	14: 33,104,115 (GRCm38)	P1193L		Het
Wnk2	A	G	13: 49,090,983 (GRCm38)	V459A	probably damaging	Het

Other mutations in Inf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Inf2	APN	12	112,611,856 (GRCm38)	nonsense	probably null
IGL01582:Inf2	APN	12	112,610,559 (GRCm38)	missense	unknown
IGL02078:Inf2	APN	12	112,601,614 (GRCm38)	missense	probably damaging	1.00
IGL02534:Inf2	APN	12	112,610,496 (GRCm38)	missense	unknown
IGL03122:Inf2	APN	12	112,604,229 (GRCm38)	missense	probably benign	0.03
IGL03296:Inf2	APN	12	112,604,208 (GRCm38)	nonsense	probably null
Talon	UTSW	12	112,610,287 (GRCm38)	splice site	probably benign
R0413:Inf2	UTSW	12	112,601,676 (GRCm38)	missense	probably damaging	1.00
R0552:Inf2	UTSW	12	112,612,574 (GRCm38)	intron	probably benign
R0920:Inf2	UTSW	12	112,610,287 (GRCm38)	splice site	probably benign
R1240:Inf2	UTSW	12	112,610,776 (GRCm38)	missense	unknown
R1452:Inf2	UTSW	12	112,601,344 (GRCm38)	missense	probably damaging	0.99
R1974:Inf2	UTSW	12	112,608,337 (GRCm38)	missense	unknown
R2422:Inf2	UTSW	12	112,610,824 (GRCm38)	missense	unknown
R3877:Inf2	UTSW	12	112,610,830 (GRCm38)	missense	unknown
R4108:Inf2	UTSW	12	112,607,581 (GRCm38)	missense	unknown
R4490:Inf2	UTSW	12	112,600,204 (GRCm38)	missense	probably damaging	1.00
R5071:Inf2	UTSW	12	112,612,039 (GRCm38)	splice site	probably null
R5074:Inf2	UTSW	12	112,612,039 (GRCm38)	splice site	probably null
R5306:Inf2	UTSW	12	112,601,553 (GRCm38)	missense	probably benign	0.26
R5383:Inf2	UTSW	12	112,600,145 (GRCm38)	missense	probably damaging	0.99
R5569:Inf2	UTSW	12	112,601,679 (GRCm38)	missense	possibly damaging	0.80
R5664:Inf2	UTSW	12	112,611,728 (GRCm38)	missense	unknown
R6157:Inf2	UTSW	12	112,604,788 (GRCm38)	unclassified	probably benign
R6221:Inf2	UTSW	12	112,603,745 (GRCm38)	missense	possibly damaging	0.66
R6429:Inf2	UTSW	12	112,604,256 (GRCm38)	missense	probably benign	0.01
R6955:Inf2	UTSW	12	112,610,731 (GRCm38)	missense	unknown
R7423:Inf2	UTSW	12	112,609,738 (GRCm38)	missense	unknown
R7444:Inf2	UTSW	12	112,605,387 (GRCm38)	missense	unknown
R7496:Inf2	UTSW	12	112,600,318 (GRCm38)	missense	probably damaging	1.00
R7605:Inf2	UTSW	12	112,601,337 (GRCm38)	missense	probably damaging	1.00
R7678:Inf2	UTSW	12	112,606,994 (GRCm38)	missense	unknown
R7708:Inf2	UTSW	12	112,607,557 (GRCm38)	missense	unknown
R7752:Inf2	UTSW	12	112,609,684 (GRCm38)	missense	unknown
R7903:Inf2	UTSW	12	112,612,554 (GRCm38)	missense	unknown
R8024:Inf2	UTSW	12	112,608,902 (GRCm38)	missense	unknown
R8139:Inf2	UTSW	12	112,601,640 (GRCm38)	nonsense	probably null
R8229:Inf2	UTSW	12	112,611,596 (GRCm38)	missense	unknown
R8299:Inf2	UTSW	12	112,604,112 (GRCm38)	missense	probably benign	0.00
R8918:Inf2	UTSW	12	112,606,269 (GRCm38)	missense	unknown
R8955:Inf2	UTSW	12	112,610,564 (GRCm38)	missense	unknown
R8973:Inf2	UTSW	12	112,607,515 (GRCm38)	missense	unknown
R9171:Inf2	UTSW	12	112,601,531 (GRCm38)	nonsense	probably null
R9218:Inf2	UTSW	12	112,601,424 (GRCm38)	missense	possibly damaging	0.95
R9779:Inf2	UTSW	12	112,608,352 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGCTGTCACTCTAGTCTCTAGC -3'
(R):5'- CGTTGATCACACTGAGCAGG -3'

Sequencing Primer
(F):5'- TAGCCCTGGATTCAGATCGCAG -3'
(R):5'- TCACTCATGATGACGCTG -3'

Posted On

2020-06-30