Mutagenetix > Incidental Mutations

Incidental Mutation 'R6979:Itfg2'

542614

Institutional Source

Beutler Lab

Gene Symbol

Itfg2

Ensembl Gene

ENSMUSG00000001518

Gene Name

integrin alpha FG-GAP repeat containing 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R6979 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128409444-128424931 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128411591 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 311 (D311G)

Ref Sequence

ENSEMBL: ENSMUSP00000145323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001559] [ENSMUST00000001561] [ENSMUST00000120405] [ENSMUST00000123867] [ENSMUST00000142615] [ENSMUST00000203026] [ENSMUST00000203374] [ENSMUST00000203853] [ENSMUST00000204223] [ENSMUST00000204836]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001559
AA Change: D343G

PolyPhen 2 Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000001559
Gene: ENSMUSG00000001518
AA Change: D343G

Domain	Start	End	E-Value	Type
Pfam:Itfg2	49	382	1e-158	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000001561

SMART Domains

Protein: ENSMUSP00000001561
Gene: ENSMUSG00000001520

Domain	Start	End	E-Value	Type
Pfam:Asp_protease	88	203	1.2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120405

SMART Domains

Protein: ENSMUSP00000113317
Gene: ENSMUSG00000001520

Domain	Start	End	E-Value	Type
Pfam:Asp_protease	88	202	1.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123867

SMART Domains

Protein: ENSMUSP00000122558
Gene: ENSMUSG00000001520

Domain	Start	End	E-Value	Type
Pfam:Asp_protease	105	218	4.1e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000142615
AA Change: D343G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000145111
Gene: ENSMUSG00000001518
AA Change: D343G

Domain	Start	End	E-Value	Type
Pfam:Itfg2	49	358	1e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147155

SMART Domains

Protein: ENSMUSP00000122305
Gene: ENSMUSG00000001520

Domain	Start	End	E-Value	Type
low complexity region	96	111	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203026

SMART Domains

Protein: ENSMUSP00000145388
Gene: ENSMUSG00000001518

Domain	Start	End	E-Value	Type
Pfam:Itfg2	49	130	3.9e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000203374
AA Change: D311G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145323
Gene: ENSMUSG00000001518
AA Change: D311G

Domain	Start	End	E-Value	Type
Pfam:Itfg2	21	350	1.3e-147	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203853

SMART Domains

Protein: ENSMUSP00000145282
Gene: ENSMUSG00000001518

Domain	Start	End	E-Value	Type
Pfam:Itfg2	49	85	3e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203984

Predicted Effect

probably benign
Transcript: ENSMUST00000204223

SMART Domains

Protein: ENSMUSP00000145012
Gene: ENSMUSG00000108011

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
low complexity region	190	201	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204836

SMART Domains

Protein: ENSMUSP00000144750
Gene: ENSMUSG00000001520

Domain	Start	End	E-Value	Type
Pfam:Asp_protease	28	141	8.9e-6	PFAM

Meta Mutation Damage Score

0.3043

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

100% (50/50)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap allele exhibit abnormal B cell differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	C	T	3: 60,040,003	T374M	probably benign	Het
Aspg	A	G	12: 112,120,944	D278G	possibly damaging	Het
Aspm	C	A	1: 139,480,485	A2370E	probably damaging	Het
Ccnt2	T	C	1: 127,775,136	M65T	probably damaging	Het
Cd163	A	G	6: 124,317,986	T670A	probably benign	Het
Cpne3	G	A	4: 19,533,098	T279I	probably benign	Het
Ctdspl	G	A	9: 119,040,530	V227M	probably damaging	Het
Ctnnd2	A	G	15: 30,619,230	E99G	probably damaging	Het
Dapk1	T	C	13: 60,748,281	S728P	probably damaging	Het
Dmxl2	A	G	9: 54,450,879	I512T	possibly damaging	Het
Dopey1	A	T	9: 86,521,642	T1630S	possibly damaging	Het
Dqx1	A	G	6: 83,061,011	D460G	probably damaging	Het
Foxg1	T	C	12: 49,384,784		probably benign	Het
H2-Q2	T	A	17: 35,345,647		probably null	Het
Hes6	T	C	1: 91,413,088	E17G	possibly damaging	Het
Ighv1-42	T	C	12: 114,937,228	Y79C	possibly damaging	Het
Itgb5	T	A	16: 33,919,986	C489S	probably damaging	Het
Map4k5	A	T	12: 69,822,848	C488S	probably damaging	Het
Mark1	C	T	1: 184,912,628	G377D	possibly damaging	Het
Mat2a	A	G	6: 72,435,113	V318A	probably damaging	Het
Mpp7	T	G	18: 7,355,049	N459T	possibly damaging	Het
Mrc2	C	A	11: 105,348,635	N1348K	probably damaging	Het
Mroh5	T	C	15: 73,793,129	K264R	probably benign	Het
Mtor	A	G	4: 148,524,473	M1529V	possibly damaging	Het
Mtrr	C	T	13: 68,570,003		probably null	Het
Nwd1	C	T	8: 72,667,660	P517L	probably damaging	Het
Olfr1100	A	G	2: 86,978,233	S188P	probably damaging	Het
Olfr1197	T	A	2: 88,729,184	R138S	probably benign	Het
Polr1c	A	G	17: 46,246,169	F63L	probably damaging	Het
Polrmt	C	T	10: 79,746,566		probably null	Het
Pomt2	T	C	12: 87,130,351	I287M	probably damaging	Het
Prkar2a	T	A	9: 108,733,143	N190K	possibly damaging	Het
Prl3d3	T	A	13: 27,157,562	Y59N	possibly damaging	Het
Prl5a1	T	A	13: 28,151,206	F199L	probably benign	Het
Prpf38b	A	G	3: 108,911,324	V40A	probably benign	Het
Ptchd1	T	A	X: 155,574,712	Y499F	probably damaging	Het
Ptgs1	A	G	2: 36,251,299	D586G	probably benign	Het
Slx4	T	C	16: 3,985,015	K1312E	probably damaging	Het
Smok3c	A	G	5: 138,064,725	D158G	probably benign	Het
Spen	A	T	4: 141,478,063	D1084E	unknown	Het
Tcp11l1	C	T	2: 104,706,439	G27D	probably benign	Het
Tep1	A	G	14: 50,838,637	S1679P	possibly damaging	Het
Tmem259	C	T	10: 79,978,557	V322I	possibly damaging	Het
Tmpo	A	T	10: 91,152,497		probably null	Het
Ttn	C	A	2: 76,724,793	A30623S	probably damaging	Het
Ube2l3	G	A	16: 17,159,977		probably benign	Het
Unkl	A	G	17: 25,199,916	D146G	probably damaging	Het
Vmn1r51	A	T	6: 90,129,204	H34L	possibly damaging	Het
Vmn2r17	A	G	5: 109,428,399	T379A	possibly damaging	Het
Zfp35	G	T	18: 24,003,870	G424C	probably benign	Het
Zfp420	T	A	7: 29,876,021	H555Q	probably damaging	Het

Other mutations in Itfg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02088:Itfg2	APN	6	128411606	missense	probably benign	0.02
IGL02111:Itfg2	APN	6	128410381	missense	probably benign	0.01
IGL02337:Itfg2	APN	6	128413570	missense	probably benign	0.02
IGL02611:Itfg2	APN	6	128424725	missense	probably damaging	1.00
R0492:Itfg2	UTSW	6	128413523	critical splice donor site	probably null
R1462:Itfg2	UTSW	6	128424728	missense	probably damaging	1.00
R1462:Itfg2	UTSW	6	128424728	missense	probably damaging	1.00
R2960:Itfg2	UTSW	6	128413552	missense	probably benign	0.33
R3110:Itfg2	UTSW	6	128411669	missense	probably damaging	1.00
R3112:Itfg2	UTSW	6	128411669	missense	probably damaging	1.00
R4067:Itfg2	UTSW	6	128410450	intron	probably benign
R4866:Itfg2	UTSW	6	128416316	intron	probably benign
R4900:Itfg2	UTSW	6	128416316	intron	probably benign
R6623:Itfg2	UTSW	6	128411657	missense	probably damaging	1.00
R7031:Itfg2	UTSW	6	128416054	missense	probably damaging	0.99
R7162:Itfg2	UTSW	6	128410583	missense	probably damaging	0.98
R7660:Itfg2	UTSW	6	128424746	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCCATGACCACTAGTGACAG -3'
(R):5'- CCAGAGTCAAGTTCATGGTCC -3'

Sequencing Primer
(F):5'- GCTAAGGAGCCCATTCAGG -3'
(R):5'- CAGAGTCAAGTTCATGGTCCTTTATG -3'

Posted On

2018-11-28