Mutagenetix > Incidental Mutation

Incidental Mutation 'R2990:Itfg1'

257886

Institutional Source

Beutler Lab

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 #

R2990 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86444207-86567550 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86561678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 152 (T152A)

Ref Sequence

ENSEMBL: ENSMUSP00000034140 (fasta)

Gene Model

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

AlphaFold

Q99KW9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034140
AA Change: T152A

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034140
Gene: ENSMUSG00000031703
AA Change: T152A

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

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cul7	C	G	17: 46,962,526 (GRCm39)	D52E	probably benign	Het
Eipr1	C	T	12: 28,909,267 (GRCm39)	T178I	probably benign	Het
Fzd1	A	G	5: 4,805,758 (GRCm39)	V608A	probably damaging	Het
Gimap3	G	T	6: 48,742,785 (GRCm39)	F48L	probably damaging	Het
Katnbl1	G	T	2: 112,234,585 (GRCm39)	K22N	probably damaging	Het
Lipm	A	G	19: 34,093,886 (GRCm39)	I268V	probably benign	Het
Mapk8ip3	T	C	17: 25,124,266 (GRCm39)	I516V	probably benign	Het
Myo9a	T	C	9: 59,832,172 (GRCm39)	L2567P	possibly damaging	Het
Npy	A	G	6: 49,804,492 (GRCm39)	E71G	possibly damaging	Het
Parp2	A	G	14: 51,054,457 (GRCm39)	T203A	probably benign	Het
Rprd1a	A	C	18: 24,639,896 (GRCm39)	L262V	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Stat5b	T	C	11: 100,699,188 (GRCm39)		probably null	Het
Syde2	T	C	3: 145,707,252 (GRCm39)	F664S	probably damaging	Het
Tenm4	G	T	7: 96,542,332 (GRCm39)		probably null	Het
Wapl	A	G	14: 34,458,665 (GRCm39)	N909S	probably damaging	Het

Other mutations in Itfg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02579:Itfg1	APN	8	86,507,194 (GRCm39)	missense	possibly damaging	0.95
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
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

Predicted Primers

PCR Primer
(F):5'- CACTATGTAATCCTGCATATAGGTTCC -3'
(R):5'- TCTCCTTAGTGATAGCTATTGCAG -3'

Sequencing Primer
(F):5'- TACTGGGGCATCAAGTCTTCACAG -3'
(R):5'- TGCAGGAAATTAGAGATGAATCTTG -3'

Posted On

2015-01-11