Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02525:Itgae'

297012

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 #

IGL02525

Quality Score

Status

Chromosome

Chromosomal Location

73090583-73147446 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73130951 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 886 (D886G)

Ref Sequence

ENSEMBL: ENSMUSP00000099596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006101] [ENSMUST00000052140] [ENSMUST00000102537]

AlphaFold

Q60677

Predicted Effect

probably damaging
Transcript: ENSMUST00000006101
AA Change: D886G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000006101
Gene: ENSMUSG00000005947
AA Change: D886G

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 benign
Transcript: ENSMUST00000052140

SMART Domains

Protein: ENSMUSP00000055806
Gene: ENSMUSG00000050107

Domain	Start	End	E-Value	Type
low complexity region	61	67	N/A	INTRINSIC
low complexity region	74	89	N/A	INTRINSIC
low complexity region	95	106	N/A	INTRINSIC
low complexity region	357	378	N/A	INTRINSIC
SCOP:d1h8fa_	437	619	1e-8	SMART
DUF3635	664	753	3.83e-45	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000102537
AA Change: D886G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099596
Gene: ENSMUSG00000005947
AA Change: D886G

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	G	8: 24,641,767 (GRCm38)		probably benign	Het
Adam18	C	T	8: 24,611,044 (GRCm38)	V701I	probably benign	Het
Adamts20	G	T	15: 94,283,078 (GRCm38)		probably null	Het
Adgrf5	G	T	17: 43,449,963 (GRCm38)	V850F	probably damaging	Het
Agap2	T	A	10: 127,083,201 (GRCm38)		probably null	Het
Ap4b1	G	A	3: 103,812,848 (GRCm38)	R62K	probably damaging	Het
Atp2a3	C	A	11: 72,975,339 (GRCm38)	H262N	probably benign	Het
Ccdc12	T	A	9: 110,711,101 (GRCm38)	D120E	probably damaging	Het
Ccdc22	A	G	X: 7,595,010 (GRCm38)	S529P	probably damaging	Het
Col1a2	A	G	6: 4,531,355 (GRCm38)		probably benign	Het
Ddx59	A	T	1: 136,417,005 (GRCm38)	Q138L	probably benign	Het
Dlc1	A	T	8: 36,579,646 (GRCm38)	F1091L	probably damaging	Het
Dnah1	C	T	14: 31,305,833 (GRCm38)	V682M	probably benign	Het
Dock9	C	T	14: 121,640,126 (GRCm38)	D404N	probably damaging	Het
Eif2b4	A	G	5: 31,189,618 (GRCm38)	V402A	probably damaging	Het
Erlin1	T	C	19: 44,039,195 (GRCm38)	H268R	probably benign	Het
Ermard	T	C	17: 15,059,339 (GRCm38)		probably benign	Het
Fam43a	A	G	16: 30,600,778 (GRCm38)	K60R	probably benign	Het
Frmd4b	T	A	6: 97,412,533 (GRCm38)	D78V	probably damaging	Het
Gabrq	A	G	X: 72,836,824 (GRCm38)	T308A	possibly damaging	Het
Gipr	A	G	7: 19,159,765 (GRCm38)	C328R	possibly damaging	Het
Gm17078	T	C	14: 51,611,223 (GRCm38)	N19S	possibly damaging	Het
Gm17541	T	C	12: 4,689,907 (GRCm38)		probably benign	Het
Gm21759	T	C	5: 8,179,967 (GRCm38)		probably benign	Het
Gm7964	A	G	7: 83,756,042 (GRCm38)		noncoding transcript	Het
Gspt1	A	G	16: 11,230,990 (GRCm38)	V318A	probably damaging	Het
Gtf2ird2	A	G	5: 134,216,477 (GRCm38)	S526G	probably benign	Het
Hey2	A	G	10: 30,842,647 (GRCm38)	M1T	probably null	Het
Hipk3	T	C	2: 104,471,412 (GRCm38)	D145G	probably damaging	Het
Ick	A	G	9: 78,160,393 (GRCm38)	K390E	probably benign	Het
Ktn1	T	A	14: 47,724,743 (GRCm38)		probably null	Het
Med12l	A	G	3: 59,068,368 (GRCm38)	K239R	probably benign	Het
Milr1	A	T	11: 106,765,275 (GRCm38)	M124L	probably benign	Het
Mon1b	G	T	8: 113,638,823 (GRCm38)	R261L	possibly damaging	Het
Mterf1a	G	A	5: 3,891,583 (GRCm38)	S95F	probably benign	Het
Myef2	C	A	2: 125,114,058 (GRCm38)		probably benign	Het
Nfrkb	T	A	9: 31,414,516 (GRCm38)	I1085N	possibly damaging	Het
Olfr275	A	T	4: 52,825,616 (GRCm38)	Y73F	probably damaging	Het
Olfr924	T	A	9: 38,848,240 (GRCm38)	M42K	possibly damaging	Het
Prodh	G	A	16: 18,072,468 (GRCm38)	Q430*	probably null	Het
Pstk	G	T	7: 131,371,193 (GRCm38)	R7L	probably benign	Het
Ptgr1	C	A	4: 58,978,067 (GRCm38)	E108D	probably benign	Het
Ptpn9	T	A	9: 57,036,725 (GRCm38)	Y294*	probably null	Het
Rnls	C	T	19: 33,138,214 (GRCm38)	V153M	possibly damaging	Het
Ros1	T	C	10: 52,116,042 (GRCm38)	T1362A	possibly damaging	Het
Samt3	G	A	X: 86,046,921 (GRCm38)	A140T	possibly damaging	Het
Sbpl	T	A	17: 23,954,863 (GRCm38)	M16L	unknown	Het
Sephs1	G	A	2: 4,906,596 (GRCm38)	C327Y	probably damaging	Het
Slc13a1	A	T	6: 24,137,136 (GRCm38)	I93N	probably damaging	Het
Slc34a1	T	C	13: 55,403,238 (GRCm38)		probably benign	Het
Slc7a9	T	C	7: 35,453,435 (GRCm38)	S93P	probably damaging	Het
Slx4	A	G	16: 3,980,597 (GRCm38)	S1444P	probably damaging	Het
Stk32b	C	T	5: 37,531,633 (GRCm38)	V116M	probably damaging	Het
Supt5	A	G	7: 28,318,947 (GRCm38)		probably benign	Het
Syne2	T	A	12: 76,101,003 (GRCm38)	S6439T	probably damaging	Het
Taar7d	A	G	10: 24,028,096 (GRCm38)	D292G	possibly damaging	Het
Tal2	A	T	4: 53,785,971 (GRCm38)	I51F	probably damaging	Het
Thegl	T	A	5: 77,016,553 (GRCm38)	D134E	probably benign	Het
Tk2	A	T	8: 104,243,400 (GRCm38)	N77K	probably benign	Het
Tmprss3	T	A	17: 31,194,891 (GRCm38)		probably benign	Het
Tnfrsf10b	T	C	14: 69,782,376 (GRCm38)	M319T	probably damaging	Het
Trim24	A	G	6: 37,945,718 (GRCm38)	R417G	probably damaging	Het
Ttn	C	A	2: 76,764,314 (GRCm38)	G18717*	probably null	Het
Vmn2r102	A	G	17: 19,681,185 (GRCm38)	T525A	probably benign	Het
Wdr38	A	T	2: 38,998,412 (GRCm38)	N7I	probably damaging	Het
Wnt3	C	T	11: 103,812,470 (GRCm38)	R260W	probably damaging	Het
Xdh	T	A	17: 73,924,995 (GRCm38)	Q240L	possibly damaging	Het
Zbtb5	T	C	4: 44,994,731 (GRCm38)	T218A	probably benign	Het
Znfx1	C	T	2: 167,037,537 (GRCm38)	E776K	probably benign	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
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
IGL03107:Itgae	APN	11	73,113,601 (GRCm38)	missense	probably damaging	1.00
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

2015-04-16