Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01300:Itgal'

75240

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itgal

Ensembl Gene

ENSMUSG00000030830

Gene Name

integrin alpha L

Synonyms

Ly-21, Ly-15, Cd11a, LFA-1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

IGL01300

Quality Score

Status

Chromosome

Chromosomal Location

126895432-126934310 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126913290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 629 (V629E)

Ref Sequence

ENSEMBL: ENSMUSP00000131847 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106306] [ENSMUST00000117762] [ENSMUST00000118405] [ENSMUST00000120857] [ENSMUST00000170971]

AlphaFold

P24063

Predicted Effect

probably damaging
Transcript: ENSMUST00000106306
AA Change: V629E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101913
Gene: ENSMUSG00000030830
AA Change: V629E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Int_alpha	38	81	5.01e0	SMART
VWA	151	327	2.68e-32	SMART
Int_alpha	398	450	1.27e-6	SMART
Int_alpha	454	509	9.6e-7	SMART
Int_alpha	515	568	3.58e-15	SMART
Int_alpha	575	624	1.28e1	SMART
low complexity region	1043	1059	N/A	INTRINSIC
transmembrane domain	1087	1109	N/A	INTRINSIC
Pfam:Integrin_alpha	1110	1124	5.8e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000117762
AA Change: V629E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113946
Gene: ENSMUSG00000030830
AA Change: V629E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Int_alpha	38	81	5.01e0	SMART
VWA	151	327	2.68e-32	SMART
Int_alpha	398	450	1.27e-6	SMART
Int_alpha	454	509	9.6e-7	SMART
Int_alpha	515	568	3.58e-15	SMART
Int_alpha	575	624	1.28e1	SMART
low complexity region	1042	1058	N/A	INTRINSIC
transmembrane domain	1086	1108	N/A	INTRINSIC
Pfam:Integrin_alpha	1109	1123	5.8e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000118405
AA Change: V233E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112591
Gene: ENSMUSG00000030830
AA Change: V233E

Domain	Start	End	E-Value	Type
Int_alpha	2	54	4.21e-3	SMART
Int_alpha	58	113	9.6e-7	SMART
Int_alpha	119	172	3.58e-15	SMART
Int_alpha	179	228	1.28e1	SMART
low complexity region	646	662	N/A	INTRINSIC
transmembrane domain	690	712	N/A	INTRINSIC
Pfam:Integrin_alpha	713	727	2.1e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000120857
AA Change: V629E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113396
Gene: ENSMUSG00000030830
AA Change: V629E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Int_alpha	38	81	5.01e0	SMART
VWA	151	327	2.68e-32	SMART
Int_alpha	398	450	1.27e-6	SMART
Int_alpha	454	509	9.6e-7	SMART
Int_alpha	515	568	3.58e-15	SMART
Int_alpha	575	624	1.28e1	SMART
low complexity region	1042	1058	N/A	INTRINSIC
transmembrane domain	1086	1108	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000170971
AA Change: V629E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131847
Gene: ENSMUSG00000030830
AA Change: V629E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Int_alpha	38	81	5.01e0	SMART
VWA	151	327	2.68e-32	SMART
Int_alpha	398	450	1.27e-6	SMART
Int_alpha	454	509	9.6e-7	SMART
Int_alpha	515	568	3.58e-15	SMART
Int_alpha	575	624	1.28e1	SMART
low complexity region	1042	1058	N/A	INTRINSIC
transmembrane domain	1086	1108	N/A	INTRINSIC
Pfam:Integrin_alpha	1109	1123	1.2e-6	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ITGAL encodes the integrin alpha L chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form the integrin lymphocyte function-associated antigen-1 (LFA-1), which is expressed on all leukocytes. LFA-1 plays a central role in leukocyte intercellular adhesion through interactions with its ligands, ICAMs 1-3 (intercellular adhesion molecules 1 through 3), and also functions in lymphocyte costimulatory signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mutations of this gene lead to increased leukocyte cell number, alter T cell activation, leukocyte migration and adhesion, spleen and lymph node morphology, and may affect humoral immune responses, metastatic potential, and susceptibility to endotoxin shock. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa8	A	G	14: 33,821,700 (GRCm39)	D300G	probably benign	Het
Cacna1g	T	C	11: 94,324,738 (GRCm39)	H1161R	probably benign	Het
Col14a1	G	A	15: 55,331,372 (GRCm39)	R1471Q	unknown	Het
Gm14496	A	T	2: 181,642,753 (GRCm39)	E808V	probably damaging	Het
Gm1968	T	C	16: 29,781,038 (GRCm39)		noncoding transcript	Het
Gzmb	G	A	14: 56,497,653 (GRCm39)	R196C	probably benign	Het
Hkdc1	A	G	10: 62,231,040 (GRCm39)		probably benign	Het
Jak2	T	A	19: 29,287,083 (GRCm39)	Y1050N	probably damaging	Het
Lrrc69	C	T	4: 14,773,663 (GRCm39)		probably benign	Het
Mmd	T	C	11: 90,140,537 (GRCm39)	M1T	probably null	Het
Myh6	A	G	14: 55,200,548 (GRCm39)	V191A	possibly damaging	Het
Mynn	A	G	3: 30,667,755 (GRCm39)	N485S	probably damaging	Het
Naa30	C	T	14: 49,410,714 (GRCm39)	T214M	probably damaging	Het
Ncoa3	A	T	2: 165,910,381 (GRCm39)	T1265S	probably benign	Het
Or10al2	C	A	17: 37,983,778 (GRCm39)	T288K	probably damaging	Het
Or1j10	T	C	2: 36,267,054 (GRCm39)	S89P	probably benign	Het
Prex1	A	G	2: 166,480,327 (GRCm39)	C138R	possibly damaging	Het
Prom2	A	T	2: 127,377,009 (GRCm39)	L535H	probably benign	Het
Pros1	T	C	16: 62,734,174 (GRCm39)	F327L	possibly damaging	Het
Ros1	A	G	10: 51,977,809 (GRCm39)	M1479T	probably benign	Het
Scn9a	G	A	2: 66,318,397 (GRCm39)	Q1465*	probably null	Het
Serpinb3b	A	G	1: 107,083,573 (GRCm39)		probably benign	Het
Sipa1l3	G	A	7: 29,099,253 (GRCm39)	Q339*	probably null	Het
Slc34a2	A	C	5: 53,225,469 (GRCm39)		probably null	Het
Smc3	T	A	19: 53,630,283 (GRCm39)		probably benign	Het
Tmem30a	A	G	9: 79,682,382 (GRCm39)		probably null	Het
Trappc11	A	T	8: 47,954,903 (GRCm39)	D878E	probably benign	Het
Trrap	C	T	5: 144,741,628 (GRCm39)	T1325M	probably damaging	Het
Ttc12	A	T	9: 49,359,222 (GRCm39)		probably benign	Het
Vmn1r237	T	A	17: 21,534,337 (GRCm39)	I20N	probably damaging	Het
Vmn2r115	T	A	17: 23,578,755 (GRCm39)	S743T	probably damaging	Het
Vmn2r74	A	G	7: 85,606,414 (GRCm39)	Y311H	probably benign	Het
Vnn3	T	A	10: 23,740,263 (GRCm39)	F189I	possibly damaging	Het

Other mutations in Itgal

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00987:Itgal	APN	7	126,901,183 (GRCm39)	missense	probably damaging	0.99
IGL01345:Itgal	APN	7	126,900,128 (GRCm39)	missense	possibly damaging	0.56
IGL01826:Itgal	APN	7	126,901,318 (GRCm39)	missense	probably benign	0.16
IGL02202:Itgal	APN	7	126,929,351 (GRCm39)	nonsense	probably null
IGL02212:Itgal	APN	7	126,900,152 (GRCm39)	missense	probably benign	0.00
IGL02513:Itgal	APN	7	126,927,844 (GRCm39)	missense	possibly damaging	0.78
IGL02608:Itgal	APN	7	126,909,416 (GRCm39)	missense	probably damaging	1.00
IGL02946:Itgal	APN	7	126,913,540 (GRCm39)	missense	probably damaging	0.99
sunglow	UTSW	7	126,927,919 (GRCm39)	missense	probably null	0.89
R0069:Itgal	UTSW	7	126,909,503 (GRCm39)	missense	probably benign	0.44
R0069:Itgal	UTSW	7	126,909,503 (GRCm39)	missense	probably benign	0.44
R0107:Itgal	UTSW	7	126,927,731 (GRCm39)	splice site	probably benign
R0331:Itgal	UTSW	7	126,905,853 (GRCm39)	splice site	probably null
R0350:Itgal	UTSW	7	126,921,253 (GRCm39)	missense	probably damaging	1.00
R0380:Itgal	UTSW	7	126,909,923 (GRCm39)	nonsense	probably null
R0537:Itgal	UTSW	7	126,910,445 (GRCm39)	missense	possibly damaging	0.61
R0546:Itgal	UTSW	7	126,909,486 (GRCm39)	missense	probably benign	0.00
R0594:Itgal	UTSW	7	126,913,232 (GRCm39)	missense	probably damaging	1.00
R1167:Itgal	UTSW	7	126,900,111 (GRCm39)	missense	probably damaging	1.00
R1377:Itgal	UTSW	7	126,921,089 (GRCm39)	missense	probably damaging	1.00
R1575:Itgal	UTSW	7	126,900,060 (GRCm39)	critical splice acceptor site	probably null
R1690:Itgal	UTSW	7	126,901,289 (GRCm39)	missense	possibly damaging	0.56
R1693:Itgal	UTSW	7	126,904,453 (GRCm39)	missense	probably damaging	1.00
R1702:Itgal	UTSW	7	126,904,197 (GRCm39)	missense	probably benign	0.00
R1720:Itgal	UTSW	7	126,906,099 (GRCm39)	missense	probably benign	0.00
R1774:Itgal	UTSW	7	126,908,794 (GRCm39)	critical splice donor site	probably null
R1824:Itgal	UTSW	7	126,913,232 (GRCm39)	missense	probably damaging	1.00
R1878:Itgal	UTSW	7	126,909,843 (GRCm39)	missense	probably benign	0.44
R1951:Itgal	UTSW	7	126,929,317 (GRCm39)	missense	probably damaging	1.00
R2265:Itgal	UTSW	7	126,905,873 (GRCm39)	missense	possibly damaging	0.63
R2267:Itgal	UTSW	7	126,905,873 (GRCm39)	missense	possibly damaging	0.63
R2269:Itgal	UTSW	7	126,905,873 (GRCm39)	missense	possibly damaging	0.63
R2276:Itgal	UTSW	7	126,927,919 (GRCm39)	missense	probably null	0.89
R2570:Itgal	UTSW	7	126,913,268 (GRCm39)	missense	probably damaging	1.00
R3925:Itgal	UTSW	7	126,923,709 (GRCm39)	splice site	probably benign
R4225:Itgal	UTSW	7	126,904,484 (GRCm39)	missense	probably damaging	1.00
R4377:Itgal	UTSW	7	126,927,453 (GRCm39)	missense	probably benign	0.00
R4466:Itgal	UTSW	7	126,927,684 (GRCm39)	missense	possibly damaging	0.93
R4579:Itgal	UTSW	7	126,904,466 (GRCm39)	missense	possibly damaging	0.83
R4656:Itgal	UTSW	7	126,921,725 (GRCm39)	missense	probably damaging	1.00
R4771:Itgal	UTSW	7	126,927,405 (GRCm39)	missense	probably damaging	1.00
R5012:Itgal	UTSW	7	126,898,802 (GRCm39)	critical splice donor site	probably null
R5328:Itgal	UTSW	7	126,910,847 (GRCm39)	critical splice donor site	probably null
R5365:Itgal	UTSW	7	126,904,522 (GRCm39)	missense	probably damaging	0.98
R5579:Itgal	UTSW	7	126,906,101 (GRCm39)	missense	probably benign	0.10
R5849:Itgal	UTSW	7	126,916,492 (GRCm39)	missense	probably benign	0.27
R5955:Itgal	UTSW	7	126,904,161 (GRCm39)	missense	possibly damaging	0.82
R6254:Itgal	UTSW	7	126,924,375 (GRCm39)	missense	probably damaging	1.00
R6269:Itgal	UTSW	7	126,929,389 (GRCm39)	missense	probably null	1.00
R6520:Itgal	UTSW	7	126,929,503 (GRCm39)	missense	probably benign	0.01
R6541:Itgal	UTSW	7	126,910,734 (GRCm39)	missense	probably damaging	0.99
R7049:Itgal	UTSW	7	126,895,573 (GRCm39)	unclassified	probably benign
R7168:Itgal	UTSW	7	126,929,385 (GRCm39)	missense	probably benign
R7419:Itgal	UTSW	7	126,906,047 (GRCm39)	missense	probably benign	0.01
R7424:Itgal	UTSW	7	126,916,537 (GRCm39)	missense	probably benign	0.00
R7454:Itgal	UTSW	7	126,926,936 (GRCm39)	missense	probably benign	0.00
R7567:Itgal	UTSW	7	126,898,960 (GRCm39)	missense	probably benign	0.00
R7696:Itgal	UTSW	7	126,929,356 (GRCm39)	missense	probably damaging	1.00
R7977:Itgal	UTSW	7	126,927,470 (GRCm39)	missense	possibly damaging	0.88
R7987:Itgal	UTSW	7	126,927,470 (GRCm39)	missense	possibly damaging	0.88
R8118:Itgal	UTSW	7	126,910,417 (GRCm39)	missense	probably benign	0.08
R8297:Itgal	UTSW	7	126,929,638 (GRCm39)	missense	unknown
R8418:Itgal	UTSW	7	126,929,454 (GRCm39)	missense	probably benign	0.02
R8477:Itgal	UTSW	7	126,900,105 (GRCm39)	missense	probably damaging	1.00
R8507:Itgal	UTSW	7	126,928,607 (GRCm39)	missense	probably benign	0.26
R8789:Itgal	UTSW	7	126,904,421 (GRCm39)	missense	probably benign	0.05
R8838:Itgal	UTSW	7	126,910,433 (GRCm39)	missense	probably damaging	1.00
R8881:Itgal	UTSW	7	126,929,541 (GRCm39)	missense	probably benign	0.11
R8923:Itgal	UTSW	7	126,895,533 (GRCm39)	unclassified	probably benign
R9070:Itgal	UTSW	7	126,927,873 (GRCm39)	missense	probably null	0.98
R9104:Itgal	UTSW	7	126,910,794 (GRCm39)	missense	probably damaging	1.00
R9173:Itgal	UTSW	7	126,896,789 (GRCm39)	critical splice acceptor site	probably null
R9179:Itgal	UTSW	7	126,905,883 (GRCm39)	missense	probably benign	0.33
R9407:Itgal	UTSW	7	126,921,796 (GRCm39)	critical splice donor site	probably null
R9545:Itgal	UTSW	7	126,929,422 (GRCm39)	missense	probably damaging	1.00
R9681:Itgal	UTSW	7	126,929,422 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07