Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03107:Itgae'

419045

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itgae

Ensembl Gene

ENSMUSG00000005947

Gene Name

integrin alpha E, epithelial-associated

Synonyms

CD103, alpha-E1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03107

Quality Score

Status

Chromosome

Chromosomal Location

73090583-73147446 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73113601 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 238 (Q238R)

Ref Sequence

ENSEMBL: ENSMUSP00000099596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006101] [ENSMUST00000102537]

AlphaFold

Q60677

Predicted Effect

probably damaging
Transcript: ENSMUST00000006101
AA Change: Q238R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000006101
Gene: ENSMUSG00000005947
AA Change: Q238R

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Blast:Int_alpha	36	118	1e-24	BLAST
VWA	193	380	1.13e-39	SMART
Int_alpha	448	496	1.49e-3	SMART
Int_alpha	502	559	6.83e-12	SMART
Int_alpha	565	626	1.79e-15	SMART
Int_alpha	633	685	6.29e0	SMART
transmembrane domain	1115	1137	N/A	INTRINSIC
Pfam:Integrin_alpha	1138	1152	1.1e-6	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000102537
AA Change: Q238R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099596
Gene: ENSMUSG00000005947
AA Change: Q238R

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Blast:Int_alpha	36	118	5e-25	BLAST
VWA	193	380	1.13e-39	SMART
Int_alpha	448	496	1.49e-3	SMART
Int_alpha	502	559	6.83e-12	SMART
Int_alpha	565	626	1.79e-15	SMART
Int_alpha	633	685	6.29e0	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy and light chains. In combination with the beta 7 integrin, this protein forms the E-cadherin binding integrin known as the human mucosal lymphocyte-1 antigen. This protein is preferentially expressed in human intestinal intraepithelial lymphocytes (IEL), and in addition to a role in adhesion, it may serve as an accessory molecule for IEL activation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reductions in the numbers of intestinal and vaginal intraepithelial lymphocytes and of T lymphocytes of the lamina propria. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931440F15Rik	T	A	11: 29,824,360 (GRCm38)	I366F	probably damaging	Het
A930003A15Rik	T	C	16: 19,883,768 (GRCm38)		noncoding transcript	Het
Angpt4	A	G	2: 151,943,422 (GRCm38)	M453V	probably benign	Het
Atr	T	A	9: 95,897,730 (GRCm38)	D1380E	probably benign	Het
Carmil1	A	T	13: 24,094,455 (GRCm38)	M177K	probably damaging	Het
Cenpk	T	A	13: 104,242,772 (GRCm38)	I203N	probably damaging	Het
Cerk	A	T	15: 86,142,813 (GRCm38)	N165K	probably benign	Het
Col27a1	G	A	4: 63,324,632 (GRCm38)		probably benign	Het
Crb2	A	T	2: 37,791,416 (GRCm38)	D757V	probably benign	Het
Csnk1a1	A	G	18: 61,568,305 (GRCm38)	D91G	probably damaging	Het
Dnajc6	G	T	4: 101,616,860 (GRCm38)	W486L	probably damaging	Het
Elmod1	C	T	9: 53,934,223 (GRCm38)		probably benign	Het
Ercc3	G	T	18: 32,248,307 (GRCm38)	R392L	possibly damaging	Het
Fam135b	C	T	15: 71,463,561 (GRCm38)	V595I	probably benign	Het
Fermt1	A	T	2: 132,933,139 (GRCm38)	S256T	probably damaging	Het
Fstl5	G	T	3: 76,536,311 (GRCm38)	C321F	probably damaging	Het
Gpatch1	T	G	7: 35,303,317 (GRCm38)	N256T	probably benign	Het
Gpd2	T	A	2: 57,355,569 (GRCm38)	S425R	probably damaging	Het
Igkv4-57-1	T	G	6: 69,544,590 (GRCm38)	M43L	probably benign	Het
Lats1	T	A	10: 7,712,746 (GRCm38)	D1042E	probably benign	Het
Lcn8	G	A	2: 25,655,365 (GRCm38)	G156D	probably damaging	Het
Loxl4	A	C	19: 42,605,279 (GRCm38)	V224G	probably benign	Het
Lrp2	T	A	2: 69,454,833 (GRCm38)	D3827V	probably damaging	Het
Neb	C	A	2: 52,183,825 (GRCm38)	R231S	probably benign	Het
Olfr123	G	A	17: 37,795,788 (GRCm38)	V115I	probably benign	Het
Olfr1458	A	T	19: 13,103,037 (GRCm38)	M89K	probably benign	Het
Olfr213	T	G	6: 116,540,939 (GRCm38)	M162R	possibly damaging	Het
Olfr801	A	G	10: 129,669,940 (GRCm38)	M193T	probably benign	Het
Olfr969	T	G	9: 39,796,179 (GRCm38)	M268R	probably benign	Het
Pappa	T	G	4: 65,204,703 (GRCm38)	S758R	probably damaging	Het
Pced1a	G	A	2: 130,422,835 (GRCm38)	T61I	possibly damaging	Het
Pik3cg	T	C	12: 32,200,595 (GRCm38)	D731G	probably damaging	Het
Plxnb1	G	A	9: 109,104,986 (GRCm38)	D761N	probably benign	Het
Pmp22	T	C	11: 63,158,309 (GRCm38)	V126A	probably benign	Het
Ppp6r2	G	T	15: 89,268,545 (GRCm38)	R296S	probably damaging	Het
Prkcq	A	C	2: 11,260,786 (GRCm38)	H438P	probably damaging	Het
Ryr1	T	A	7: 29,075,199 (GRCm38)	Y2339F	probably damaging	Het
Scaper	T	C	9: 55,858,402 (GRCm38)		probably benign	Het
Scp2	T	A	4: 108,098,115 (GRCm38)	I144F	probably benign	Het
Secisbp2	T	C	13: 51,652,757 (GRCm38)		probably null	Het
Sema5a	T	A	15: 32,669,408 (GRCm38)	Y693N	probably damaging	Het
Sin3b	T	A	8: 72,753,585 (GRCm38)	I905K	probably damaging	Het
Slc13a3	T	A	2: 165,437,307 (GRCm38)	M195L	probably benign	Het
Strada	A	G	11: 106,164,037 (GRCm38)		probably benign	Het
Stx18	G	A	5: 38,136,311 (GRCm38)	V294M	probably damaging	Het
Tbpl2	A	T	2: 24,093,833 (GRCm38)	N197K	probably benign	Het
Tdrd9	A	T	12: 112,042,840 (GRCm38)	H1060L	probably damaging	Het
Tm4sf5	G	A	11: 70,505,397 (GRCm38)	V23M	possibly damaging	Het
Tmem54	C	A	4: 129,110,912 (GRCm38)	L187I	probably damaging	Het
Tmprss5	A	G	9: 49,113,228 (GRCm38)	H281R	possibly damaging	Het
Trim30c	A	G	7: 104,382,613 (GRCm38)	Y332H	possibly damaging	Het
Uba6	T	A	5: 86,127,774 (GRCm38)		probably benign	Het
Unc80	C	A	1: 66,631,454 (GRCm38)	P1912Q	probably damaging	Het

Other mutations in Itgae

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Itgae	APN	11	73,145,635 (GRCm38)	missense	probably benign	0.17
IGL00472:Itgae	APN	11	73,113,694 (GRCm38)	missense	probably benign	0.06
IGL00821:Itgae	APN	11	73,123,148 (GRCm38)	missense	probably damaging	1.00
IGL01625:Itgae	APN	11	73,119,437 (GRCm38)	missense	probably benign	0.00
IGL01639:Itgae	APN	11	73,119,378 (GRCm38)	missense	probably benign	0.00
IGL01743:Itgae	APN	11	73,111,759 (GRCm38)	missense	probably benign	0.02
IGL01911:Itgae	APN	11	73,116,137 (GRCm38)	missense	probably damaging	1.00
IGL01949:Itgae	APN	11	73,118,184 (GRCm38)	missense	probably benign	0.29
IGL02149:Itgae	APN	11	73,103,894 (GRCm38)	missense	probably benign	0.04
IGL02179:Itgae	APN	11	73,134,018 (GRCm38)	missense	probably benign	0.06
IGL02231:Itgae	APN	11	73,090,622 (GRCm38)	missense	possibly damaging	0.88
IGL02292:Itgae	APN	11	73,118,535 (GRCm38)	missense	probably damaging	0.98
IGL02378:Itgae	APN	11	73,118,121 (GRCm38)	missense	probably benign	0.00
IGL02525:Itgae	APN	11	73,130,951 (GRCm38)	missense	probably damaging	0.98
IGL02576:Itgae	APN	11	73,118,505 (GRCm38)	missense	possibly damaging	0.95
IGL02729:Itgae	APN	11	73,118,203 (GRCm38)	splice site	probably benign
IGL02859:Itgae	APN	11	73,114,867 (GRCm38)	missense	probably damaging	1.00
IGL03074:Itgae	APN	11	73,125,310 (GRCm38)	missense	probably benign	0.00
IGL03264:Itgae	APN	11	73,115,574 (GRCm38)	missense	possibly damaging	0.73
IGL03272:Itgae	APN	11	73,133,854 (GRCm38)	splice site	probably null
IGL03352:Itgae	APN	11	73,131,730 (GRCm38)	missense	probably damaging	1.00
R0134:Itgae	UTSW	11	73,111,342 (GRCm38)	missense	probably benign	0.00
R0225:Itgae	UTSW	11	73,111,342 (GRCm38)	missense	probably benign	0.00
R0320:Itgae	UTSW	11	73,130,999 (GRCm38)	missense	possibly damaging	0.74
R0344:Itgae	UTSW	11	73,118,147 (GRCm38)	missense	probably benign	0.13
R0403:Itgae	UTSW	11	73,123,183 (GRCm38)	missense	possibly damaging	0.89
R0631:Itgae	UTSW	11	73,114,907 (GRCm38)	missense	probably damaging	1.00
R0833:Itgae	UTSW	11	73,129,206 (GRCm38)	missense	probably benign	0.02
R0836:Itgae	UTSW	11	73,129,206 (GRCm38)	missense	probably benign	0.02
R0973:Itgae	UTSW	11	73,138,509 (GRCm38)	nonsense	probably null
R1231:Itgae	UTSW	11	73,119,379 (GRCm38)	missense	probably benign	0.02
R1389:Itgae	UTSW	11	73,125,362 (GRCm38)	missense	probably damaging	1.00
R1433:Itgae	UTSW	11	73,115,592 (GRCm38)	missense	probably damaging	1.00
R1534:Itgae	UTSW	11	73,145,605 (GRCm38)	missense	possibly damaging	0.58
R1833:Itgae	UTSW	11	73,117,162 (GRCm38)	missense	possibly damaging	0.94
R1914:Itgae	UTSW	11	73,118,643 (GRCm38)	splice site	probably benign
R1915:Itgae	UTSW	11	73,118,643 (GRCm38)	splice site	probably benign
R2061:Itgae	UTSW	11	73,118,622 (GRCm38)	missense	probably benign	0.00
R2380:Itgae	UTSW	11	73,145,569 (GRCm38)	missense	probably benign	0.00
R2435:Itgae	UTSW	11	73,121,937 (GRCm38)	nonsense	probably null
R2680:Itgae	UTSW	11	73,114,926 (GRCm38)	missense	probably damaging	1.00
R2886:Itgae	UTSW	11	73,140,687 (GRCm38)	missense	probably benign	0.04
R3873:Itgae	UTSW	11	73,113,616 (GRCm38)	missense	probably damaging	1.00
R3923:Itgae	UTSW	11	73,116,143 (GRCm38)	missense	probably damaging	0.99
R4010:Itgae	UTSW	11	73,111,339 (GRCm38)	missense	probably benign	0.00
R4059:Itgae	UTSW	11	73,112,134 (GRCm38)	missense	probably benign
R4212:Itgae	UTSW	11	73,119,352 (GRCm38)	missense	probably benign
R4213:Itgae	UTSW	11	73,119,352 (GRCm38)	missense	probably benign
R4691:Itgae	UTSW	11	73,119,519 (GRCm38)	nonsense	probably null
R4736:Itgae	UTSW	11	73,114,880 (GRCm38)	missense	possibly damaging	0.79
R5152:Itgae	UTSW	11	73,130,995 (GRCm38)	missense	probably damaging	1.00
R5201:Itgae	UTSW	11	73,110,556 (GRCm38)	missense	probably benign	0.00
R5307:Itgae	UTSW	11	73,145,638 (GRCm38)	missense	probably benign	0.00
R5362:Itgae	UTSW	11	73,111,849 (GRCm38)	missense	probably damaging	1.00
R5448:Itgae	UTSW	11	73,133,908 (GRCm38)	critical splice donor site	probably null
R5645:Itgae	UTSW	11	73,129,248 (GRCm38)	missense	probably damaging	1.00
R5672:Itgae	UTSW	11	73,145,551 (GRCm38)	missense	possibly damaging	0.96
R6079:Itgae	UTSW	11	73,115,574 (GRCm38)	missense	possibly damaging	0.73
R6138:Itgae	UTSW	11	73,115,574 (GRCm38)	missense	possibly damaging	0.73
R6226:Itgae	UTSW	11	73,140,757 (GRCm38)	missense	probably benign	0.11
R6244:Itgae	UTSW	11	73,145,601 (GRCm38)	missense	probably damaging	0.96
R6326:Itgae	UTSW	11	73,131,693 (GRCm38)	missense	possibly damaging	0.88
R6332:Itgae	UTSW	11	73,111,402 (GRCm38)	splice site	probably null
R6502:Itgae	UTSW	11	73,145,592 (GRCm38)	missense	probably benign	0.10
R6825:Itgae	UTSW	11	73,118,496 (GRCm38)	missense	possibly damaging	0.89
R7016:Itgae	UTSW	11	73,119,516 (GRCm38)	missense	probably damaging	0.99
R7020:Itgae	UTSW	11	73,111,369 (GRCm38)	missense	probably damaging	1.00
R7069:Itgae	UTSW	11	73,116,143 (GRCm38)	missense	probably damaging	0.99
R7132:Itgae	UTSW	11	73,111,358 (GRCm38)	missense	possibly damaging	0.93
R7473:Itgae	UTSW	11	73,140,678 (GRCm38)	missense	possibly damaging	0.87
R7599:Itgae	UTSW	11	73,121,960 (GRCm38)	missense	possibly damaging	0.62
R7637:Itgae	UTSW	11	73,113,631 (GRCm38)	missense	probably damaging	1.00
R7763:Itgae	UTSW	11	73,123,269 (GRCm38)	critical splice donor site	probably null
R7829:Itgae	UTSW	11	73,138,792 (GRCm38)	missense	probably benign
R7860:Itgae	UTSW	11	73,120,273 (GRCm38)	critical splice acceptor site	probably null
R7978:Itgae	UTSW	11	73,134,087 (GRCm38)	missense	probably damaging	0.98
R8197:Itgae	UTSW	11	73,120,384 (GRCm38)	missense	probably benign
R8911:Itgae	UTSW	11	73,113,621 (GRCm38)	missense	probably damaging	1.00
R9155:Itgae	UTSW	11	73,125,263 (GRCm38)	missense	possibly damaging	0.94
R9284:Itgae	UTSW	11	73,121,926 (GRCm38)	missense	probably benign	0.25
R9355:Itgae	UTSW	11	73,116,080 (GRCm38)	missense	probably damaging	1.00
R9414:Itgae	UTSW	11	73,111,803 (GRCm38)	missense	possibly damaging	0.59
R9595:Itgae	UTSW	11	73,125,356 (GRCm38)	missense	probably damaging	0.99
R9618:Itgae	UTSW	11	73,120,345 (GRCm38)	missense	possibly damaging	0.78
U15987:Itgae	UTSW	11	73,115,574 (GRCm38)	missense	possibly damaging	0.73
X0024:Itgae	UTSW	11	73,111,376 (GRCm38)	missense	probably benign	0.01
Z1186:Itgae	UTSW	11	73,103,887 (GRCm38)	missense	possibly damaging	0.74
Z1186:Itgae	UTSW	11	73,134,127 (GRCm38)	missense	probably benign	0.36
Z1186:Itgae	UTSW	11	73,121,957 (GRCm38)	missense	probably benign	0.00
Z1186:Itgae	UTSW	11	73,121,931 (GRCm38)	missense	probably benign	0.00
Z1186:Itgae	UTSW	11	73,118,087 (GRCm38)	missense	probably benign	0.01
Z1186:Itgae	UTSW	11	73,115,640 (GRCm38)	missense	probably benign
Z1186:Itgae	UTSW	11	73,103,960 (GRCm38)	missense	probably damaging	1.00
Z1187:Itgae	UTSW	11	73,103,887 (GRCm38)	missense	possibly damaging	0.74
Z1187:Itgae	UTSW	11	73,103,960 (GRCm38)	missense	probably damaging	1.00
Z1187:Itgae	UTSW	11	73,115,640 (GRCm38)	missense	probably benign
Z1187:Itgae	UTSW	11	73,118,087 (GRCm38)	missense	probably benign	0.01
Z1187:Itgae	UTSW	11	73,121,931 (GRCm38)	missense	probably benign	0.00
Z1187:Itgae	UTSW	11	73,121,957 (GRCm38)	missense	probably benign	0.00
Z1187:Itgae	UTSW	11	73,134,127 (GRCm38)	missense	probably benign	0.36
Z1188:Itgae	UTSW	11	73,103,887 (GRCm38)	missense	possibly damaging	0.74
Z1188:Itgae	UTSW	11	73,134,127 (GRCm38)	missense	probably benign	0.36
Z1188:Itgae	UTSW	11	73,121,957 (GRCm38)	missense	probably benign	0.00
Z1188:Itgae	UTSW	11	73,121,931 (GRCm38)	missense	probably benign	0.00
Z1188:Itgae	UTSW	11	73,118,087 (GRCm38)	missense	probably benign	0.01
Z1188:Itgae	UTSW	11	73,115,640 (GRCm38)	missense	probably benign
Z1188:Itgae	UTSW	11	73,103,960 (GRCm38)	missense	probably damaging	1.00
Z1189:Itgae	UTSW	11	73,103,887 (GRCm38)	missense	possibly damaging	0.74
Z1189:Itgae	UTSW	11	73,134,127 (GRCm38)	missense	probably benign	0.36
Z1189:Itgae	UTSW	11	73,121,957 (GRCm38)	missense	probably benign	0.00
Z1189:Itgae	UTSW	11	73,121,931 (GRCm38)	missense	probably benign	0.00
Z1189:Itgae	UTSW	11	73,118,087 (GRCm38)	missense	probably benign	0.01
Z1189:Itgae	UTSW	11	73,115,640 (GRCm38)	missense	probably benign
Z1189:Itgae	UTSW	11	73,103,960 (GRCm38)	missense	probably damaging	1.00
Z1190:Itgae	UTSW	11	73,134,127 (GRCm38)	missense	probably benign	0.36
Z1190:Itgae	UTSW	11	73,121,957 (GRCm38)	missense	probably benign	0.00
Z1190:Itgae	UTSW	11	73,121,931 (GRCm38)	missense	probably benign	0.00
Z1190:Itgae	UTSW	11	73,118,087 (GRCm38)	missense	probably benign	0.01
Z1190:Itgae	UTSW	11	73,115,640 (GRCm38)	missense	probably benign
Z1190:Itgae	UTSW	11	73,103,960 (GRCm38)	missense	probably damaging	1.00
Z1190:Itgae	UTSW	11	73,103,887 (GRCm38)	missense	possibly damaging	0.74
Z1191:Itgae	UTSW	11	73,134,127 (GRCm38)	missense	probably benign	0.36
Z1191:Itgae	UTSW	11	73,121,957 (GRCm38)	missense	probably benign	0.00
Z1191:Itgae	UTSW	11	73,121,931 (GRCm38)	missense	probably benign	0.00
Z1191:Itgae	UTSW	11	73,118,087 (GRCm38)	missense	probably benign	0.01
Z1191:Itgae	UTSW	11	73,115,640 (GRCm38)	missense	probably benign
Z1191:Itgae	UTSW	11	73,103,960 (GRCm38)	missense	probably damaging	1.00
Z1191:Itgae	UTSW	11	73,103,887 (GRCm38)	missense	possibly damaging	0.74
Z1192:Itgae	UTSW	11	73,121,957 (GRCm38)	missense	probably benign	0.00
Z1192:Itgae	UTSW	11	73,121,931 (GRCm38)	missense	probably benign	0.00
Z1192:Itgae	UTSW	11	73,118,087 (GRCm38)	missense	probably benign	0.01
Z1192:Itgae	UTSW	11	73,115,640 (GRCm38)	missense	probably benign
Z1192:Itgae	UTSW	11	73,103,960 (GRCm38)	missense	probably damaging	1.00
Z1192:Itgae	UTSW	11	73,103,887 (GRCm38)	missense	possibly damaging	0.74
Z1192:Itgae	UTSW	11	73,134,127 (GRCm38)	missense	probably benign	0.36

Posted On

2016-08-02