Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02192:Itgbl1'

283912

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 #

IGL02192

Quality Score

Status

Chromosome

Chromosomal Location

123897383-124213030 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 124081338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 239 (C239F)

Ref Sequence

ENSEMBL: ENSMUSP00000059019 (fasta)

Gene Model

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

AlphaFold

Q8VDV0

Predicted Effect

probably damaging
Transcript: ENSMUST00000049681
AA Change: C239F

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

SMART Domains

Protein: ENSMUSP00000059019
Gene: ENSMUSG00000032925
AA Change: C239F

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,597,825 (GRCm39)	M545K	possibly damaging	Het
Adamtsl1	A	G	4: 86,146,253 (GRCm39)	E303G	probably damaging	Het
Anxa13	A	T	15: 58,220,628 (GRCm39)		noncoding transcript	Het
Ap2b1	C	T	11: 83,237,592 (GRCm39)	T552I	possibly damaging	Het
Cars1	T	C	7: 143,125,325 (GRCm39)	S388G	probably damaging	Het
Cdh18	A	T	15: 23,460,402 (GRCm39)	D544V	probably damaging	Het
Chat	T	C	14: 32,145,279 (GRCm39)	R377G	possibly damaging	Het
Col14a1	A	G	15: 55,225,798 (GRCm39)	T154A	unknown	Het
Col9a1	C	T	1: 24,261,068 (GRCm39)	P311S	probably damaging	Het
Cpsf3	G	T	12: 21,360,194 (GRCm39)		probably benign	Het
Cpsf3	G	T	12: 21,360,197 (GRCm39)		probably null	Het
Dock8	T	C	19: 25,055,569 (GRCm39)		probably null	Het
Eml6	A	G	11: 29,755,743 (GRCm39)	I837T	probably benign	Het
Epb41	T	C	4: 131,657,028 (GRCm39)	T792A	probably damaging	Het
Exph5	A	T	9: 53,287,625 (GRCm39)	R1569*	probably null	Het
F13b	A	T	1: 139,445,071 (GRCm39)	T574S	probably damaging	Het
Fam184b	G	T	5: 45,695,062 (GRCm39)	D727E	probably benign	Het
Fhip1a	A	G	3: 85,580,633 (GRCm39)	L524P	possibly damaging	Het
Fhod3	T	C	18: 25,189,415 (GRCm39)	L619P	probably damaging	Het
Fsd1l	A	G	4: 53,647,754 (GRCm39)	I66V	probably benign	Het
Fv1	A	G	4: 147,954,712 (GRCm39)	D426G	possibly damaging	Het
Gm3371	A	T	14: 44,641,235 (GRCm39)		probably benign	Het
Hnf1a	A	T	5: 115,098,177 (GRCm39)	S142T	probably damaging	Het
Itgb3	A	G	11: 104,534,765 (GRCm39)	I541V	probably benign	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Larp1b	G	T	3: 40,921,929 (GRCm39)	S116I	probably benign	Het
Lmtk3	A	G	7: 45,443,933 (GRCm39)		probably benign	Het
Mapk10	T	C	5: 103,137,513 (GRCm39)	I235V	probably damaging	Het
Mctp1	C	T	13: 76,879,887 (GRCm39)		probably benign	Het
Megf8	G	A	7: 25,053,285 (GRCm39)	D1819N	probably damaging	Het
Muc6	T	C	7: 141,217,717 (GRCm39)	T2254A	possibly damaging	Het
Nbr1	T	A	11: 101,460,417 (GRCm39)	S444T	probably damaging	Het
Ncor2	A	T	5: 125,101,301 (GRCm39)	D1956E	probably damaging	Het
Ndufaf5	T	C	2: 140,030,663 (GRCm39)	V183A	probably benign	Het
Nfasc	G	A	1: 132,498,219 (GRCm39)	T1155M	probably damaging	Het
Nol12	A	G	15: 78,821,374 (GRCm39)	E78G	probably damaging	Het
Npy5r	T	A	8: 67,133,998 (GRCm39)	H265L	probably benign	Het
Or10j2	T	A	1: 173,098,417 (GRCm39)	L225H	probably damaging	Het
Or8k16	G	A	2: 85,520,472 (GRCm39)	G233D	possibly damaging	Het
Pop1	A	G	15: 34,529,217 (GRCm39)	E749G	probably benign	Het
Ppil3	T	C	1: 58,477,547 (GRCm39)	I66V	probably damaging	Het
Prl4a1	C	A	13: 28,202,554 (GRCm39)	T43K	possibly damaging	Het
Prop1	A	G	11: 50,844,113 (GRCm39)		probably benign	Het
Qrsl1	A	T	10: 43,761,010 (GRCm39)	I218N	probably damaging	Het
Rbm22	T	A	18: 60,697,484 (GRCm39)	M63K	possibly damaging	Het
Rictor	T	C	15: 6,815,895 (GRCm39)	S1056P	probably benign	Het
Rps6kb2	T	C	19: 4,207,587 (GRCm39)	T388A	probably damaging	Het
Slc7a5	A	G	8: 122,613,129 (GRCm39)		probably benign	Het
Sp100	A	T	1: 85,635,722 (GRCm39)	D509V	probably damaging	Het
Spata18	G	T	5: 73,829,861 (GRCm39)		probably null	Het
Sspo	C	A	6: 48,436,502 (GRCm39)	T1254K	possibly damaging	Het
Stk19	A	G	17: 35,051,134 (GRCm39)		probably benign	Het
Taar8b	T	A	10: 23,967,262 (GRCm39)	I311F	probably damaging	Het
Themis2	C	A	4: 132,510,658 (GRCm39)		probably null	Het
Tll2	T	C	19: 41,074,702 (GRCm39)	Y937C	possibly damaging	Het
Trim34a	T	A	7: 103,896,939 (GRCm39)	M1K	probably null	Het
Usp50	G	A	2: 126,619,958 (GRCm39)	T118I	possibly damaging	Het
Vps13d	G	A	4: 144,875,428 (GRCm39)	S1693F	probably benign	Het
Vps16	T	A	2: 130,282,852 (GRCm39)	I467N	probably damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het

Other mutations in Itgbl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00673:Itgbl1	APN	14	124,083,844 (GRCm39)	splice site	probably benign
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
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

2015-04-16