Mutagenetix > Incidental Mutation

Incidental Mutation 'R5365:Itgal'

423085

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

042943-MU

Accession Numbers

Essential gene?

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

Stock #

R5365 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

126895432-126934310 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126904522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 332 (I332V)

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: I332V

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101913
Gene: ENSMUSG00000030830
AA Change: I332V

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: I332V

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113946
Gene: ENSMUSG00000030830
AA Change: I332V

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 benign
Transcript: ENSMUST00000120857
AA Change: I332V

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113396
Gene: ENSMUSG00000030830
AA Change: I332V

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: I332V

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131847
Gene: ENSMUSG00000030830
AA Change: I332V

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

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,578,629 (GRCm39)	E4877G	probably damaging	Het
Acss3	C	T	10: 106,840,589 (GRCm39)	A391T	probably damaging	Het
Bcan	T	C	3: 87,896,542 (GRCm39)	Y718C	probably damaging	Het
Bnc2	T	C	4: 84,329,666 (GRCm39)		probably benign	Het
Bpnt2	G	A	4: 4,776,385 (GRCm39)	T190I	probably damaging	Het
Card6	A	G	15: 5,134,888 (GRCm39)	V105A	possibly damaging	Het
Ceacam5	A	G	7: 17,493,473 (GRCm39)	Y832C	probably damaging	Het
Ces2e	T	C	8: 105,653,846 (GRCm39)		probably null	Het
Cpt1b	A	T	15: 89,304,310 (GRCm39)	I480N	possibly damaging	Het
Csmd3	T	C	15: 47,868,145 (GRCm39)	T792A	possibly damaging	Het
Ctsq	T	A	13: 61,185,632 (GRCm39)	I170F	possibly damaging	Het
Cyfip2	A	G	11: 46,138,457 (GRCm39)	S772P	probably damaging	Het
Cyp3a16	A	C	5: 145,389,597 (GRCm39)	M256R	probably damaging	Het
Dgkd	C	T	1: 87,863,138 (GRCm39)	R62C	probably damaging	Het
Ephx3	A	G	17: 32,408,223 (GRCm39)	L67P	probably damaging	Het
Gpc2	A	G	5: 138,273,885 (GRCm39)	Y438H	probably damaging	Het
Hnrnpul2	T	A	19: 8,798,080 (GRCm39)	H145Q	probably benign	Het
Igkv9-120	T	C	6: 68,027,433 (GRCm39)	S116P	probably benign	Het
Lrit1	A	G	14: 36,784,099 (GRCm39)	T476A	probably benign	Het
Lrp1b	T	C	2: 40,537,137 (GRCm39)	H50R	possibly damaging	Het
Marchf7	T	C	2: 60,064,258 (GRCm39)	V178A	possibly damaging	Het
Mbtps2	G	A	X: 156,351,295 (GRCm39)	T157M	possibly damaging	Het
Mdn1	C	T	4: 32,723,690 (GRCm39)	P2542L	probably damaging	Het
Mill2	T	C	7: 18,592,339 (GRCm39)	V320A	probably benign	Het
Mtor	G	A	4: 148,634,587 (GRCm39)	V2403M	probably damaging	Het
Nectin3	T	A	16: 46,284,469 (GRCm39)	K71*	probably null	Het
Or2g25	T	A	17: 37,970,586 (GRCm39)	I213F	probably damaging	Het
Otof	T	C	5: 30,539,144 (GRCm39)	Y1090C	probably damaging	Het
Pigf	A	T	17: 87,331,136 (GRCm39)	V62E	possibly damaging	Het
Pla1a	A	G	16: 38,237,569 (GRCm39)	L43P	probably benign	Het
Rptor	G	A	11: 119,734,539 (GRCm39)	G514D	probably damaging	Het
Sbno1	TCCC	TCC	5: 124,519,929 (GRCm39)		probably null	Het
Tgm4	A	C	9: 122,895,866 (GRCm39)	K223N	probably damaging	Het
Ttn	G	T	2: 76,744,990 (GRCm39)	A5353E	probably damaging	Het
Ywhaq	T	C	12: 21,446,389 (GRCm39)	E159G	possibly damaging	Het
Zdhhc12	A	G	2: 29,983,521 (GRCm39)	V27A	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
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
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'- AAACTAGTCAGAGATTTTGGGGTG -3'
(R):5'- TGGCTGCCTAGGGAAATGTC -3'

Sequencing Primer
(F):5'- TGGGGTGCTGCAGCTCTC -3'
(R):5'- GGAAATGTCCCCTCCCTTATCAG -3'

Posted On

2016-08-04