Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02579:Itfg1'

299305

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itfg1

Ensembl Gene

ENSMUSG00000031703

Gene Name

integrin alpha FG-GAP repeat containing 1

Synonyms

D8Wsu49e, 2310047C21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

IGL02579

Quality Score

Status

Chromosome

Chromosomal Location

86444207-86567550 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86507194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 222 (T222M)

Ref Sequence

ENSEMBL: ENSMUSP00000034140 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034140]

AlphaFold

Q99KW9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034140
AA Change: T222M

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034140
Gene: ENSMUSG00000031703
AA Change: T222M

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
SCOP:d1m1xa4	46	232	5e-3	SMART
low complexity region	482	496	N/A	INTRINSIC
transmembrane domain	564	586	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	G	5: 9,005,537 (GRCm39)	E1140G	probably damaging	Het
Alcam	T	C	16: 52,091,135 (GRCm39)	E461G	probably damaging	Het
Bahcc1	A	G	11: 120,176,175 (GRCm39)		probably benign	Het
Calhm6	C	A	10: 34,003,423 (GRCm39)	M161I	probably benign	Het
Dnmt1	A	G	9: 20,829,416 (GRCm39)	M729T	possibly damaging	Het
Enpep	G	A	3: 129,077,739 (GRCm39)	T626M	probably benign	Het
Gje1	A	T	10: 14,592,492 (GRCm39)	C97S	probably benign	Het
Igkv4-58	T	A	6: 69,477,385 (GRCm39)	I71F	probably damaging	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Mtmr6	T	A	14: 60,519,378 (GRCm39)		probably benign	Het
Nwd1	A	T	8: 73,434,155 (GRCm39)	I1251F	probably damaging	Het
Or5b101	T	C	19: 13,004,892 (GRCm39)	D267G	probably damaging	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Pold1	T	C	7: 44,192,703 (GRCm39)	E53G	probably damaging	Het
Prkdc	A	T	16: 15,488,465 (GRCm39)	D529V	possibly damaging	Het
Rgl2	A	G	17: 34,156,134 (GRCm39)	T741A	probably benign	Het
Tex44	A	G	1: 86,354,169 (GRCm39)	N26S	probably benign	Het
Traf5	G	T	1: 191,731,848 (GRCm39)	P28Q	probably damaging	Het
Ttn	A	G	2: 76,589,433 (GRCm39)	Y21274H	probably damaging	Het
Vmn2r76	T	A	7: 85,877,961 (GRCm39)	K479*	probably null	Het
Zfp322a	A	T	13: 23,541,613 (GRCm39)	V43E	probably damaging	Het
Zfp385c	C	A	11: 100,521,605 (GRCm39)	G152C	probably damaging	Het
Zfpm2	A	T	15: 40,962,868 (GRCm39)	N177Y	possibly damaging	Het

Other mutations in Itfg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02803:Itfg1	APN	8	86,452,140 (GRCm39)	splice site	probably null
R0368:Itfg1	UTSW	8	86,491,036 (GRCm39)	missense	probably damaging	1.00
R0755:Itfg1	UTSW	8	86,452,834 (GRCm39)	missense	possibly damaging	0.90
R1183:Itfg1	UTSW	8	86,507,152 (GRCm39)	missense	probably benign	0.04
R1529:Itfg1	UTSW	8	86,537,243 (GRCm39)	missense	probably benign	0.02
R1789:Itfg1	UTSW	8	86,452,141 (GRCm39)	critical splice donor site	probably null
R1953:Itfg1	UTSW	8	86,557,860 (GRCm39)	missense	probably benign	0.31
R2206:Itfg1	UTSW	8	86,502,827 (GRCm39)	missense	probably benign	0.17
R2207:Itfg1	UTSW	8	86,502,827 (GRCm39)	missense	probably benign	0.17
R2260:Itfg1	UTSW	8	86,449,306 (GRCm39)	missense	probably damaging	1.00
R2358:Itfg1	UTSW	8	86,464,758 (GRCm39)	missense	probably damaging	1.00
R2876:Itfg1	UTSW	8	86,507,139 (GRCm39)	splice site	probably benign
R2990:Itfg1	UTSW	8	86,561,678 (GRCm39)	missense	possibly damaging	0.82
R4484:Itfg1	UTSW	8	86,452,878 (GRCm39)	missense	probably damaging	1.00
R4762:Itfg1	UTSW	8	86,459,070 (GRCm39)	missense	possibly damaging	0.95
R5146:Itfg1	UTSW	8	86,445,497 (GRCm39)	makesense	probably null
R5796:Itfg1	UTSW	8	86,445,522 (GRCm39)	missense	probably damaging	1.00
R5805:Itfg1	UTSW	8	86,493,601 (GRCm39)	missense	probably benign	0.04
R6084:Itfg1	UTSW	8	86,452,799 (GRCm39)	missense	probably benign	0.01
R6187:Itfg1	UTSW	8	86,563,094 (GRCm39)	missense	probably damaging	1.00
R6319:Itfg1	UTSW	8	86,567,258 (GRCm39)	missense	probably damaging	1.00
R6463:Itfg1	UTSW	8	86,462,780 (GRCm39)	missense	probably benign	0.03
R6490:Itfg1	UTSW	8	86,466,930 (GRCm39)	missense	probably benign	0.08
R6492:Itfg1	UTSW	8	86,466,978 (GRCm39)	missense	probably benign	0.14
R6588:Itfg1	UTSW	8	86,462,759 (GRCm39)	missense	probably benign
R6753:Itfg1	UTSW	8	86,561,707 (GRCm39)	missense	probably benign	0.04
R7489:Itfg1	UTSW	8	86,493,630 (GRCm39)	missense	probably damaging	1.00
R7665:Itfg1	UTSW	8	86,490,979 (GRCm39)	missense	probably benign
R7912:Itfg1	UTSW	8	86,490,909 (GRCm39)	missense	probably damaging	1.00
R7985:Itfg1	UTSW	8	86,452,197 (GRCm39)	missense	probably damaging	1.00
R8927:Itfg1	UTSW	8	86,567,420 (GRCm39)	unclassified	probably benign
R8928:Itfg1	UTSW	8	86,567,420 (GRCm39)	unclassified	probably benign
R9080:Itfg1	UTSW	8	86,466,874 (GRCm39)	missense	possibly damaging	0.82
R9456:Itfg1	UTSW	8	86,565,566 (GRCm39)	missense	probably benign	0.01
R9513:Itfg1	UTSW	8	86,490,875 (GRCm39)	missense	possibly damaging	0.92
R9577:Itfg1	UTSW	8	86,502,798 (GRCm39)	missense	probably benign	0.01
R9761:Itfg1	UTSW	8	86,563,031 (GRCm39)	missense	probably benign	0.00
X0067:Itfg1	UTSW	8	86,567,382 (GRCm39)	unclassified	probably benign

Posted On

2015-04-16