Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00987:Itgal'

306670

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 #

IGL00987

Quality Score

Status

Chromosome

Chromosomal Location

126895432-126934310 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126901183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 190 (F190L)

Ref Sequence

ENSEMBL: ENSMUSP00000131847 (fasta)

Gene Model

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

AlphaFold

P24063

Predicted Effect

probably damaging
Transcript: ENSMUST00000106306
AA Change: F190L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101913
Gene: ENSMUSG00000030830
AA Change: F190L

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: F190L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113946
Gene: ENSMUSG00000030830
AA Change: F190L

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: ENSMUST00000120857
AA Change: F190L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113396
Gene: ENSMUSG00000030830
AA Change: F190L

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: F190L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131847
Gene: ENSMUSG00000030830
AA Change: F190L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205695

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
Acot9	T	C	X: 154,078,177 (GRCm39)	I241T	probably benign	Het
Atp5mc3	T	A	2: 73,740,270 (GRCm39)	R19*	probably null	Het
Celf4	T	C	18: 25,620,007 (GRCm39)	D420G	probably damaging	Het
Cideb	C	A	14: 55,992,017 (GRCm39)	R179L	possibly damaging	Het
Cmtr1	G	A	17: 29,916,143 (GRCm39)	R591H	probably benign	Het
Dync1li2	A	T	8: 105,169,130 (GRCm39)	S34T	possibly damaging	Het
Eri2	A	G	7: 119,390,389 (GRCm39)	Y80H	probably damaging	Het
Eya2	A	G	2: 165,596,401 (GRCm39)	E304G	probably damaging	Het
Fam135a	A	C	1: 24,094,979 (GRCm39)	L130V	probably damaging	Het
Fancb	A	T	X: 163,774,594 (GRCm39)	K410N	probably damaging	Het
Gabpb2	A	C	3: 95,107,502 (GRCm39)	V191G	probably damaging	Het
Gfm1	A	G	3: 67,345,893 (GRCm39)	H197R	possibly damaging	Het
Gm11595	A	G	11: 99,663,365 (GRCm39)	V105A	unknown	Het
Hectd3	T	A	4: 116,856,840 (GRCm39)	D462E	probably damaging	Het
Herc1	G	T	9: 66,315,334 (GRCm39)	V1139L	probably benign	Het
Krt87	G	A	15: 101,336,327 (GRCm39)	H109Y	probably benign	Het
Lmf2	T	C	15: 89,238,771 (GRCm39)	Y115C	probably benign	Het
Papolg	T	A	11: 23,826,377 (GRCm39)	Y259F	possibly damaging	Het
Parn	T	C	16: 13,485,467 (GRCm39)	I10V	probably benign	Het
Pdcd11	T	A	19: 47,102,989 (GRCm39)		probably benign	Het
Phldb2	T	A	16: 45,583,465 (GRCm39)	Q1003L	possibly damaging	Het
Pigg	T	A	5: 108,489,944 (GRCm39)	F850I	probably damaging	Het
Pkp4	T	C	2: 59,138,701 (GRCm39)	L317P	probably damaging	Het
Polr2a	T	C	11: 69,634,620 (GRCm39)		probably benign	Het
Prdm16	G	A	4: 154,426,426 (GRCm39)	T453M	possibly damaging	Het
Rnf144b	A	T	13: 47,360,969 (GRCm39)	E36D	possibly damaging	Het
Ryr2	G	A	13: 11,750,388 (GRCm39)	T1961I	probably damaging	Het
Sash1	T	A	10: 8,627,177 (GRCm39)	K305I	probably damaging	Het
Tbc1d7	A	T	13: 43,312,797 (GRCm39)	I32N	probably damaging	Het
Thop1	T	C	10: 80,917,529 (GRCm39)	F623L	probably damaging	Het
Thsd7b	G	A	1: 129,541,016 (GRCm39)	G297R	probably damaging	Het
Tln1	C	A	4: 43,551,297 (GRCm39)		probably benign	Het
Vmn1r183	A	G	7: 23,754,649 (GRCm39)	N151D	probably damaging	Het

Other mutations in Itgal

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01300:Itgal	APN	7	126,913,290 (GRCm39)	missense	probably damaging	1.00
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

2015-04-16