Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00673:Itgbl1'

11510

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itgbl1

Ensembl Gene

ENSMUSG00000032925

Gene Name

integrin, beta-like 1

Synonyms

with EGF-like repeat domains, B930011D01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

IGL00673

Quality Score

Status

Chromosome

Chromosomal Location

123897383-124213030 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 124083844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121659 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049681] [ENSMUST00000132026] [ENSMUST00000142161]

AlphaFold

Q8VDV0

Predicted Effect

probably benign
Transcript: ENSMUST00000049681

SMART Domains

Protein: ENSMUSP00000059019
Gene: ENSMUSG00000032925

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
internal_repeat_1	62	164	7.9e-12	PROSPERO
EGF_like	184	217	6.95e1	SMART
EGF	275	311	2.25e1	SMART
low complexity region	335	348	N/A	INTRINSIC
Pfam:EGF_2	368	398	3.6e-8	PFAM
low complexity region	423	438	N/A	INTRINSIC
low complexity region	448	456	N/A	INTRINSIC
Blast:EGF_like	457	486	4e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000132026

SMART Domains

Protein: ENSMUSP00000115455
Gene: ENSMUSG00000032925

Domain	Start	End	E-Value	Type
internal_repeat_2	22	50	3.54e-8	PROSPERO
internal_repeat_1	23	87	7.45e-14	PROSPERO
low complexity region	101	126	N/A	INTRINSIC
EGF	151	187	2.25e1	SMART
low complexity region	211	224	N/A	INTRINSIC
Pfam:EGF_2	239	274	1.5e-7	PFAM
low complexity region	299	314	N/A	INTRINSIC
low complexity region	324	332	N/A	INTRINSIC
internal_repeat_2	334	362	3.54e-8	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000142161

SMART Domains

Protein: ENSMUSP00000121659
Gene: ENSMUSG00000032925

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
PDB:4G1E\|B	59	171	1e-17	PDB
Blast:EGF_like	90	127	5e-15	BLAST
low complexity region	178	192	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a beta integrin-related protein that is a member of the EGF-like protein family. The encoded protein contains integrin-like cysteine-rich repeats. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	T	C	9: 90,075,714 (GRCm39)	S1191P	possibly damaging	Het
Alg2	C	T	4: 47,472,329 (GRCm39)	D160N	probably damaging	Het
Cd177	A	T	7: 24,451,442 (GRCm39)	F487Y	possibly damaging	Het
Cdc27	A	G	11: 104,419,261 (GRCm39)	Y224H	probably damaging	Het
Cdhr1	A	G	14: 36,807,485 (GRCm39)	V385A	probably benign	Het
Cep128	G	T	12: 91,200,965 (GRCm39)	H31Q	probably benign	Het
Ehd4	A	G	2: 119,932,701 (GRCm39)	S242P	probably damaging	Het
Esco1	A	G	18: 10,582,078 (GRCm39)	F647L	probably damaging	Het
Kcnj3	G	T	2: 55,485,284 (GRCm39)	D461Y	possibly damaging	Het
Kcnq3	G	A	15: 65,867,120 (GRCm39)	T841M	probably damaging	Het
Kcnt2	T	G	1: 140,523,789 (GRCm39)	N1103K	possibly damaging	Het
Mib1	A	G	18: 10,798,490 (GRCm39)	S784G	probably benign	Het
Miga2	T	G	2: 30,257,729 (GRCm39)	M9R	probably benign	Het
Pals1	C	A	12: 78,876,573 (GRCm39)	R506S	possibly damaging	Het
Prl2a1	T	C	13: 27,992,436 (GRCm39)	S187P	probably damaging	Het
Psg28	A	G	7: 18,161,816 (GRCm39)	V229A	probably damaging	Het
Ptdss2	G	T	7: 140,723,038 (GRCm39)	C84F	probably benign	Het
Recql	T	A	6: 142,322,647 (GRCm39)	N85I	probably null	Het
Tex47	A	T	5: 7,355,211 (GRCm39)	I131F	probably damaging	Het
Tlk1	G	T	2: 70,575,860 (GRCm39)	Q323K	probably damaging	Het

Other mutations in Itgbl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01290:Itgbl1	APN	14	124,204,137 (GRCm39)	missense	probably benign	0.02
IGL01618:Itgbl1	APN	14	124,065,211 (GRCm39)	missense	possibly damaging	0.88
IGL02024:Itgbl1	APN	14	124,094,904 (GRCm39)	missense	probably damaging	1.00
IGL02192:Itgbl1	APN	14	124,081,338 (GRCm39)	missense	probably damaging	1.00
IGL02215:Itgbl1	APN	14	124,209,553 (GRCm39)	missense	probably benign	0.01
IGL02400:Itgbl1	APN	14	124,083,938 (GRCm39)	missense	probably damaging	1.00
IGL02483:Itgbl1	APN	14	124,065,155 (GRCm39)	splice site	probably benign
BB002:Itgbl1	UTSW	14	124,210,735 (GRCm39)	missense	possibly damaging	0.68
BB012:Itgbl1	UTSW	14	124,210,735 (GRCm39)	missense	possibly damaging	0.68
H8441:Itgbl1	UTSW	14	124,210,699 (GRCm39)	missense	probably damaging	1.00
R0137:Itgbl1	UTSW	14	124,078,098 (GRCm39)	critical splice donor site	probably null
R0193:Itgbl1	UTSW	14	124,083,958 (GRCm39)	missense	probably benign	0.09
R0355:Itgbl1	UTSW	14	124,077,997 (GRCm39)	nonsense	probably null
R0598:Itgbl1	UTSW	14	124,094,848 (GRCm39)	missense	possibly damaging	0.93
R0662:Itgbl1	UTSW	14	124,065,306 (GRCm39)	missense	probably damaging	1.00
R0689:Itgbl1	UTSW	14	124,065,259 (GRCm39)	missense	possibly damaging	0.65
R1385:Itgbl1	UTSW	14	123,898,923 (GRCm39)	splice site	probably null
R1957:Itgbl1	UTSW	14	124,204,090 (GRCm39)	missense	probably damaging	1.00
R3739:Itgbl1	UTSW	14	124,204,090 (GRCm39)	missense	probably damaging	1.00
R3842:Itgbl1	UTSW	14	124,077,977 (GRCm39)	missense	possibly damaging	0.92
R4434:Itgbl1	UTSW	14	124,209,611 (GRCm39)	missense	probably damaging	1.00
R4463:Itgbl1	UTSW	14	124,078,080 (GRCm39)	missense	probably damaging	0.97
R4696:Itgbl1	UTSW	14	124,204,120 (GRCm39)	missense	probably damaging	1.00
R4937:Itgbl1	UTSW	14	124,210,780 (GRCm39)	missense	probably benign	0.12
R5087:Itgbl1	UTSW	14	124,204,151 (GRCm39)	missense	possibly damaging	0.52
R5747:Itgbl1	UTSW	14	124,209,576 (GRCm39)	nonsense	probably null
R6020:Itgbl1	UTSW	14	124,083,977 (GRCm39)	missense	probably damaging	0.99
R6169:Itgbl1	UTSW	14	123,897,790 (GRCm39)	missense	probably benign	0.17
R6758:Itgbl1	UTSW	14	124,094,901 (GRCm39)	missense	probably benign	0.23
R7213:Itgbl1	UTSW	14	124,210,709 (GRCm39)	missense	probably damaging	1.00
R7259:Itgbl1	UTSW	14	124,081,316 (GRCm39)	missense	probably damaging	0.96
R7378:Itgbl1	UTSW	14	124,094,901 (GRCm39)	missense	probably benign	0.23
R7461:Itgbl1	UTSW	14	124,065,211 (GRCm39)	missense	possibly damaging	0.88
R7664:Itgbl1	UTSW	14	124,083,962 (GRCm39)	missense	probably damaging	1.00
R7841:Itgbl1	UTSW	14	124,209,645 (GRCm39)	critical splice donor site	probably null
R7925:Itgbl1	UTSW	14	124,210,735 (GRCm39)	missense	possibly damaging	0.68
R8115:Itgbl1	UTSW	14	124,094,955 (GRCm39)	missense	probably damaging	1.00
R8260:Itgbl1	UTSW	14	124,065,246 (GRCm39)	missense	probably benign	0.00
R8778:Itgbl1	UTSW	14	124,078,075 (GRCm39)	missense	probably benign	0.01
R8978:Itgbl1	UTSW	14	124,209,617 (GRCm39)	missense	probably damaging	1.00
R9186:Itgbl1	UTSW	14	124,094,970 (GRCm39)	missense	probably benign
V1024:Itgbl1	UTSW	14	124,210,699 (GRCm39)	missense	probably damaging	1.00
X0012:Itgbl1	UTSW	14	123,898,717 (GRCm39)	missense	probably benign	0.01
X0017:Itgbl1	UTSW	14	124,209,623 (GRCm39)	missense	possibly damaging	0.81
Z1176:Itgbl1	UTSW	14	124,192,084 (GRCm39)	missense	probably damaging	0.99

Posted On

2012-12-06