Mutagenetix > Incidental Mutation

Incidental Mutation 'R4225:Itgal'

320007

Institutional Source

Beutler Lab

Gene Symbol

Itgal

Ensembl Gene

ENSMUSG00000030830

Gene Name

integrin alpha L

Synonyms

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

MMRRC Submission

041045-MU

Accession Numbers

Essential gene?

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

Stock #

R4225 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126895432-126934310 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126904484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 319 (K319M)

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: K319M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101913
Gene: ENSMUSG00000030830
AA Change: K319M

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: K319M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113946
Gene: ENSMUSG00000030830
AA Change: K319M

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 benign
Transcript: ENSMUST00000118405

SMART Domains

Protein: ENSMUSP00000112591
Gene: ENSMUSG00000030830

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: K319M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113396
Gene: ENSMUSG00000030830
AA Change: K319M

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: K319M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131847
Gene: ENSMUSG00000030830
AA Change: K319M

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

100% (38/38)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,085,106 (GRCm39)	I569V	possibly damaging	Het
Aif1l	A	T	2: 31,852,251 (GRCm39)	S40C	probably damaging	Het
Arhgef26	A	G	3: 62,288,343 (GRCm39)	D471G	probably benign	Het
Atp2a2	A	G	5: 122,607,789 (GRCm39)	V240A	probably benign	Het
Bsn	A	G	9: 107,983,932 (GRCm39)	M3374T	unknown	Het
Ccdc66	A	G	14: 27,212,736 (GRCm39)	L529P	probably damaging	Het
Ctif	A	G	18: 75,568,308 (GRCm39)	I610T	probably benign	Het
Ecpas	A	T	4: 58,847,027 (GRCm39)	Y512N	probably damaging	Het
Eif3c	C	G	7: 126,165,471 (GRCm39)		probably benign	Het
Esyt1	T	C	10: 128,356,517 (GRCm39)	Y376C	probably damaging	Het
Gba2	A	T	4: 43,569,464 (GRCm39)		probably benign	Het
Grin1	T	C	2: 25,187,332 (GRCm39)		probably benign	Het
Herc2	A	G	7: 55,814,735 (GRCm39)	E2696G	probably damaging	Het
Lama3	T	C	18: 12,583,460 (GRCm39)	C683R	probably damaging	Het
Lrig1	T	A	6: 94,599,639 (GRCm39)	I348F	probably damaging	Het
Mc3r	G	A	2: 172,090,954 (GRCm39)	V59M	probably damaging	Het
Msh3	T	C	13: 92,422,431 (GRCm39)	K575R	probably benign	Het
Musk	A	T	4: 58,373,240 (GRCm39)	M714L	probably damaging	Het
Odad2	A	G	18: 7,181,732 (GRCm39)		probably null	Het
Pcdhgb7	T	A	18: 37,886,856 (GRCm39)	D675E	probably benign	Het
Pkd1	T	C	17: 24,812,497 (GRCm39)	I3810T	possibly damaging	Het
Pou2f1	T	C	1: 165,738,889 (GRCm39)	I177V	possibly damaging	Het
Rb1	T	C	14: 73,506,631 (GRCm39)	M373V	possibly damaging	Het
Ric1	A	G	19: 29,580,131 (GRCm39)	N1311D	possibly damaging	Het
Scn3a	A	G	2: 65,366,771 (GRCm39)	Y84H	probably damaging	Het
Slc25a45	A	T	19: 5,930,146 (GRCm39)	I39F	probably damaging	Het
Slc8a1	A	G	17: 81,956,781 (GRCm39)	F86L	probably damaging	Het
Spdya	G	A	17: 71,869,519 (GRCm39)	V105I	probably benign	Het
Sspo	G	T	6: 48,428,091 (GRCm39)	V313L	possibly damaging	Het
Stard9	A	G	2: 120,495,472 (GRCm39)	T116A	possibly damaging	Het
Stpg2	G	A	3: 138,921,053 (GRCm39)	R86Q	probably damaging	Het
Tdrd6	C	T	17: 43,936,864 (GRCm39)	D1395N	probably damaging	Het
Vmn2r101	T	A	17: 19,831,951 (GRCm39)	I649N	probably damaging	Het
Zcchc18	A	T	X: 135,895,415 (GRCm39)	N10I	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTTCTGAGGCCTAAGCTCC -3'
(R):5'- AACCTCTTTGTATTCTAGGTCAGGAG -3'

Sequencing Primer
(F):5'- CCAAGGTCTTCTGGCTGATAGAAAAC -3'
(R):5'- TGAAGGACTGGTGAACCT -3'

Posted On

2015-06-12