Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01618:Itgbl1'

92467

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itgbl1

Ensembl Gene

ENSMUSG00000032925

Gene Name

integrin, beta-like 1

Synonyms

B930011D01Rik, with EGF-like repeat domains

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

IGL01618

Quality Score

Status

Chromosome

Chromosomal Location

123659971-123975618 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 123827799 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 122 (S122T)

Ref Sequence

ENSEMBL: ENSMUSP00000121659 (fasta)

Gene Model

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

AlphaFold

Q8VDV0

Predicted Effect

probably benign
Transcript: ENSMUST00000049681
AA Change: S122T

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000059019
Gene: ENSMUSG00000032925
AA Change: S122T

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
AA Change: S45T

PolyPhen 2 Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000115455
Gene: ENSMUSG00000032925
AA Change: S45T

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: S122T

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121659
Gene: ENSMUSG00000032925
AA Change: S122T

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	C	T	19: 55,272,833	A74V	probably benign	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Aldh1a3	G	A	7: 66,409,230	T239I	probably damaging	Het
Anxa9	A	G	3: 95,300,536		probably null	Het
Atp5k	C	A	5: 108,434,033	K28N	probably damaging	Het
C9	T	G	15: 6,459,668	Y169D	probably benign	Het
Cbwd1	T	C	19: 24,940,776	E210G	possibly damaging	Het
Chat	T	A	14: 32,446,892		probably null	Het
Csmd3	C	T	15: 48,011,083	E706K	probably benign	Het
Ctbs	A	G	3: 146,455,112	K145E	probably benign	Het
Dennd5a	A	G	7: 109,934,095	M156T	probably damaging	Het
Dhx29	A	G	13: 112,965,222	Y1275C	probably damaging	Het
Dpp10	A	T	1: 123,367,867	F517Y	probably benign	Het
Dst	G	A	1: 34,188,909	W1536*	probably null	Het
Galc	T	C	12: 98,252,081	T171A	possibly damaging	Het
Gsap	T	C	5: 21,226,248	I190T	probably damaging	Het
Hars2	A	T	18: 36,789,577	R388*	probably null	Het
Igsf21	C	T	4: 140,107,364	G66S	possibly damaging	Het
Jhy	G	T	9: 40,960,964	T83K	possibly damaging	Het
Kcne4	A	T	1: 78,817,808	M58L	possibly damaging	Het
Lamc3	T	A	2: 31,912,107	I509N	probably damaging	Het
Lpar6	T	C	14: 73,239,066	S156P	probably damaging	Het
Man2c1	T	C	9: 57,141,556		probably benign	Het
March11	T	C	15: 26,409,199	I328T	possibly damaging	Het
Mc3r	T	A	2: 172,249,370	C171S	probably benign	Het
Muc4	A	T	16: 32,756,627	Q2167L	unknown	Het
Myom1	T	C	17: 71,099,993	V1135A	possibly damaging	Het
Nectin1	C	T	9: 43,791,258	R101*	probably null	Het
Nxpe4	T	C	9: 48,394,140	S277P	possibly damaging	Het
Olfr1152	A	C	2: 87,868,144	D51A	probably damaging	Het
Olfr1459	T	A	19: 13,146,250	K136N	probably benign	Het
Olfr395	T	C	11: 73,907,477	N5S	probably damaging	Het
Olfr437	T	A	6: 43,167,703	V215E	probably damaging	Het
Olfr584	G	A	7: 103,086,375	V281I	probably benign	Het
Pappa2	G	T	1: 158,857,378	N730K	probably damaging	Het
Prepl	A	G	17: 85,066,281	V586A	probably damaging	Het
Prrc2a	T	C	17: 35,149,553	Y2098C	probably damaging	Het
Rdh16	G	A	10: 127,801,307	C37Y	probably damaging	Het
Rnd1	A	T	15: 98,673,865	M100K	probably benign	Het
Sema3c	A	G	5: 17,672,506	N204D	probably damaging	Het
Susd4	A	G	1: 182,858,461		probably null	Het
Taar7f	G	T	10: 24,050,341	A278S	possibly damaging	Het
Tle4	T	A	19: 14,544,814	M122L	probably benign	Het
Trim9	C	T	12: 70,248,351	V662I	probably benign	Het
Vmn2r10	C	A	5: 109,002,479	C233F	probably damaging	Het
Vmn2r98	A	C	17: 19,065,259	T114P	possibly damaging	Het
Zfyve21	C	T	12: 111,827,813		probably benign	Het

Other mutations in Itgbl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00673:Itgbl1	APN	14	123846432	splice site	probably benign
IGL01290:Itgbl1	APN	14	123966725	missense	probably benign	0.02
IGL02024:Itgbl1	APN	14	123857492	missense	probably damaging	1.00
IGL02192:Itgbl1	APN	14	123843926	missense	probably damaging	1.00
IGL02215:Itgbl1	APN	14	123972141	missense	probably benign	0.01
IGL02400:Itgbl1	APN	14	123846526	missense	probably damaging	1.00
IGL02483:Itgbl1	APN	14	123827743	splice site	probably benign
BB002:Itgbl1	UTSW	14	123973323	missense	possibly damaging	0.68
BB012:Itgbl1	UTSW	14	123973323	missense	possibly damaging	0.68
H8441:Itgbl1	UTSW	14	123973287	missense	probably damaging	1.00
R0137:Itgbl1	UTSW	14	123840686	critical splice donor site	probably null
R0193:Itgbl1	UTSW	14	123846546	missense	probably benign	0.09
R0355:Itgbl1	UTSW	14	123840585	nonsense	probably null
R0598:Itgbl1	UTSW	14	123857436	missense	possibly damaging	0.93
R0662:Itgbl1	UTSW	14	123827894	missense	probably damaging	1.00
R0689:Itgbl1	UTSW	14	123827847	missense	possibly damaging	0.65
R1385:Itgbl1	UTSW	14	123661511	splice site	probably null
R1957:Itgbl1	UTSW	14	123966678	missense	probably damaging	1.00
R3739:Itgbl1	UTSW	14	123966678	missense	probably damaging	1.00
R3842:Itgbl1	UTSW	14	123840565	missense	possibly damaging	0.92
R4434:Itgbl1	UTSW	14	123972199	missense	probably damaging	1.00
R4463:Itgbl1	UTSW	14	123840668	missense	probably damaging	0.97
R4696:Itgbl1	UTSW	14	123966708	missense	probably damaging	1.00
R4937:Itgbl1	UTSW	14	123973368	missense	probably benign	0.12
R5087:Itgbl1	UTSW	14	123966739	missense	possibly damaging	0.52
R5747:Itgbl1	UTSW	14	123972164	nonsense	probably null
R6020:Itgbl1	UTSW	14	123846565	missense	probably damaging	0.99
R6169:Itgbl1	UTSW	14	123660378	missense	probably benign	0.17
R6758:Itgbl1	UTSW	14	123857489	missense	probably benign	0.23
R7213:Itgbl1	UTSW	14	123973297	missense	probably damaging	1.00
R7259:Itgbl1	UTSW	14	123843904	missense	probably damaging	0.96
R7378:Itgbl1	UTSW	14	123857489	missense	probably benign	0.23
R7461:Itgbl1	UTSW	14	123827799	missense	possibly damaging	0.88
R7664:Itgbl1	UTSW	14	123846550	missense	probably damaging	1.00
R7841:Itgbl1	UTSW	14	123972233	critical splice donor site	probably null
R7925:Itgbl1	UTSW	14	123973323	missense	possibly damaging	0.68
R8115:Itgbl1	UTSW	14	123857543	missense	probably damaging	1.00
R8260:Itgbl1	UTSW	14	123827834	missense	probably benign	0.00
R8778:Itgbl1	UTSW	14	123840663	missense	probably benign	0.01
R8978:Itgbl1	UTSW	14	123972205	missense	probably damaging	1.00
R9186:Itgbl1	UTSW	14	123857558	missense	probably benign
V1024:Itgbl1	UTSW	14	123973287	missense	probably damaging	1.00
X0012:Itgbl1	UTSW	14	123661305	missense	probably benign	0.01
X0017:Itgbl1	UTSW	14	123972211	missense	possibly damaging	0.81
Z1176:Itgbl1	UTSW	14	123954672	missense	probably damaging	0.99

Posted On

2013-12-09