Mutagenetix > Incidental Mutation

Incidental Mutation 'R0689:Itgbl1'

61296

Institutional Source

Beutler Lab

Gene Symbol

Itgbl1

Ensembl Gene

ENSMUSG00000032925

Gene Name

integrin, beta-like 1

Synonyms

with EGF-like repeat domains, B930011D01Rik

MMRRC Submission

038874-MU

Accession Numbers

Essential gene?

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

Stock #

R0689 (G1)

Quality Score

117

Status

Validated

Chromosome

Chromosomal Location

123897383-124213030 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124065259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 61 (I61F)

Ref Sequence

ENSEMBL: ENSMUSP00000115455 (fasta)

Gene Model

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

AlphaFold

Q8VDV0

Predicted Effect

probably benign
Transcript: ENSMUST00000049681
AA Change: I138F

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000059019
Gene: ENSMUSG00000032925
AA Change: I138F

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

possibly damaging
Transcript: ENSMUST00000132026
AA Change: I61F

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115455
Gene: ENSMUSG00000032925
AA Change: I61F

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

possibly damaging
Transcript: ENSMUST00000142161
AA Change: I138F

PolyPhen 2 Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121659
Gene: ENSMUSG00000032925
AA Change: I138F

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.4%
20x: 91.1%

Validation Efficiency

99% (80/81)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	C	A	7: 28,596,474 (GRCm39)	G674W	probably damaging	Het
Adcy9	A	G	16: 4,130,668 (GRCm39)		probably benign	Het
Adgrv1	C	T	13: 81,623,224 (GRCm39)	V3800I	possibly damaging	Het
Agl	A	G	3: 116,587,277 (GRCm39)	Y93H	probably damaging	Het
Aldh1a3	T	A	7: 66,051,753 (GRCm39)	D400V	probably benign	Het
Bpifc	A	G	10: 85,796,411 (GRCm39)		probably benign	Het
Cachd1	G	T	4: 100,832,073 (GRCm39)	R745L	probably damaging	Het
Cadm3	T	A	1: 173,172,019 (GRCm39)	T185S	possibly damaging	Het
Cep85l	G	T	10: 53,224,943 (GRCm39)	D215E	probably damaging	Het
Ces1g	A	G	8: 94,055,035 (GRCm39)	S221P	probably damaging	Het
Cfap206	C	T	4: 34,722,668 (GRCm39)	V138M	probably benign	Het
Csmd3	A	T	15: 47,619,421 (GRCm39)	F1714I	probably benign	Het
Cyp4f18	A	G	8: 72,749,812 (GRCm39)	L279P	probably benign	Het
Dnah7a	G	A	1: 53,659,840 (GRCm39)	Q723*	probably null	Het
Dnaja2	A	G	8: 86,273,347 (GRCm39)		probably benign	Het
Dnajc6	T	C	4: 101,468,450 (GRCm39)	V162A	possibly damaging	Het
Dok4	T	C	8: 95,597,547 (GRCm39)	T3A	probably benign	Het
Efcab7	T	C	4: 99,761,981 (GRCm39)	W424R	probably damaging	Het
Fah	A	T	7: 84,242,392 (GRCm39)		probably null	Het
Fam120a	T	C	13: 49,121,114 (GRCm39)	D64G	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gas8	T	G	8: 124,250,845 (GRCm39)	L106R	probably damaging	Het
Gykl1	T	G	18: 52,827,123 (GRCm39)	N110K	possibly damaging	Het
Hsd3b3	G	T	3: 98,649,295 (GRCm39)	L343I	possibly damaging	Het
Itch	T	A	2: 155,024,098 (GRCm39)	S234T	possibly damaging	Het
Klf6	T	A	13: 5,915,115 (GRCm39)	S185T	probably damaging	Het
Klk1b1	A	C	7: 43,620,143 (GRCm39)	K202T	probably benign	Het
Liph	T	C	16: 21,786,818 (GRCm39)	Y268C	probably damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Myo9b	G	A	8: 71,783,400 (GRCm39)	D574N	probably damaging	Het
Nfyb	G	A	10: 82,590,836 (GRCm39)	A65V	possibly damaging	Het
Nipbl	A	G	15: 8,322,562 (GRCm39)		probably null	Het
Olfm3	T	A	3: 114,916,194 (GRCm39)	N355K	probably benign	Het
Or4k15c	A	T	14: 50,321,689 (GRCm39)	F150I	probably benign	Het
Pcdhb21	A	G	18: 37,648,370 (GRCm39)	T500A	probably benign	Het
Pclo	A	G	5: 14,764,033 (GRCm39)	I4169V	unknown	Het
Pde4d	T	C	13: 109,877,078 (GRCm39)	S144P	possibly damaging	Het
Pgghg	T	C	7: 140,523,191 (GRCm39)	Y157H	probably benign	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pla2g12a	T	C	3: 129,674,947 (GRCm39)		probably null	Het
Ppp1r14d	T	C	2: 119,060,093 (GRCm39)	D63G	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Sgip1	A	T	4: 102,823,449 (GRCm39)	D690V	probably damaging	Het
Skp1	T	C	11: 52,134,592 (GRCm39)		probably benign	Het
Slc25a12	T	C	2: 71,141,837 (GRCm39)	Y272C	possibly damaging	Het
Slc37a2	A	G	9: 37,146,846 (GRCm39)		probably benign	Het
Snx6	A	T	12: 54,810,441 (GRCm39)	S112T	probably benign	Het
Sox6	A	G	7: 115,085,786 (GRCm39)	V685A	probably damaging	Het
Taf2	A	T	15: 54,926,461 (GRCm39)	V163E	possibly damaging	Het
Tg	A	T	15: 66,711,253 (GRCm39)		probably benign	Het
Tmem30c	A	G	16: 57,090,536 (GRCm39)	Y224H	probably damaging	Het
Tmem45b	T	C	9: 31,339,879 (GRCm39)	N173D	probably benign	Het
Traf5	T	C	1: 191,729,837 (GRCm39)	T405A	probably benign	Het
Trerf1	C	T	17: 47,630,300 (GRCm39)		noncoding transcript	Het
Triobp	A	T	15: 78,844,188 (GRCm39)	K135*	probably null	Het
Ttll9	T	A	2: 152,825,047 (GRCm39)	D75E	probably benign	Het
Vmn1r63	T	C	7: 5,806,609 (GRCm39)	I8V	probably benign	Het
Vmn2r77	A	T	7: 86,460,872 (GRCm39)	I733F	probably damaging	Het
Vmn2r98	T	C	17: 19,300,782 (GRCm39)	S595P	possibly damaging	Het
Zcchc2	C	T	1: 105,958,234 (GRCm39)	Q504*	probably null	Het
Zfp2	T	C	11: 50,791,734 (GRCm39)	D103G	probably benign	Het
Zfp59	A	G	7: 27,553,142 (GRCm39)	K198R	probably benign	Het
Zfp64	C	A	2: 168,777,121 (GRCm39)		probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACCATTGTCTTGAAGCATCAACCCC -3'
(R):5'- GGCAGCACATGAGTCTGAGAGTC -3'

Sequencing Primer
(F):5'- CATGGGAGTCTTTATTAACATAGACC -3'
(R):5'- cacacacacacacacacac -3'

Posted On

2013-07-30