Mutagenetix > Incidental Mutation

Incidental Mutation 'R7637:Itgae'

590020

Institutional Source

Beutler Lab

Gene Symbol

Itgae

Ensembl Gene

ENSMUSG00000005947

Gene Name

integrin alpha E, epithelial-associated

Synonyms

CD103, alpha-E1

MMRRC Submission

045695-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7637 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73090583-73147446 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73113631 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 248 (D248V)

Ref Sequence

ENSEMBL: ENSMUSP00000006101 (fasta)

Gene Model

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

AlphaFold

Q60677

Predicted Effect

probably damaging
Transcript: ENSMUST00000006101
AA Change: D248V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000006101
Gene: ENSMUSG00000005947
AA Change: D248V

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: D248V

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

SMART Domains

Protein: ENSMUSP00000099596
Gene: ENSMUSG00000005947
AA Change: D248V

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

Meta Mutation Damage Score

0.5259

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,218,952 (GRCm38)	Q651L	probably benign	Het
Adam8	C	T	7: 139,985,430 (GRCm38)	V624I	probably damaging	Het
Cltc	T	C	11: 86,730,332 (GRCm38)	H287R	probably damaging	Het
Cmya5	T	C	13: 93,083,212 (GRCm38)	K3243R	possibly damaging	Het
Dock5	G	A	14: 67,786,340 (GRCm38)	T1124M	possibly damaging	Het
Fam8a1	A	T	13: 46,671,247 (GRCm38)	M237L	probably benign	Het
Fars2	G	T	13: 36,204,775 (GRCm38)	K82N	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713 (GRCm38)		probably benign	Het
Gm57858	T	A	3: 36,046,876 (GRCm38)	Q49L	probably damaging	Het
Gnat3	A	G	5: 18,003,772 (GRCm38)	D158G		Het
Grhl2	A	C	15: 37,328,330 (GRCm38)	N400T	probably damaging	Het
Grin2c	A	T	11: 115,256,259 (GRCm38)		probably null	Het
Hipk4	A	G	7: 27,523,548 (GRCm38)	Y11C	probably damaging	Het
Hspa9	G	T	18: 34,938,687 (GRCm38)	A620E	not run	Het
Igkv12-89	A	G	6: 68,835,099 (GRCm38)	S29P	probably benign	Het
Itga8	A	T	2: 12,109,187 (GRCm38)	D1039E	probably damaging	Het
Kmt2c	T	C	5: 25,315,095 (GRCm38)	K2006E	probably damaging	Het
Litafd	C	T	16: 8,683,646 (GRCm38)	P59L	unknown	Het
Mdga1	C	T	17: 29,832,379 (GRCm38)	G934R	probably benign	Het
Mov10	T	C	3: 104,795,885 (GRCm38)	N896S	probably benign	Het
Ndufb6	A	T	4: 40,273,080 (GRCm38)		probably null	Het
Nlk	T	C	11: 78,591,005 (GRCm38)		probably null	Het
Notch2	T	A	3: 98,146,623 (GRCm38)	S2201T	probably damaging	Het
Or5i1	A	T	2: 87,783,434 (GRCm38)	D298V	probably damaging	Het
Pank1	A	C	19: 34,821,988 (GRCm38)		probably null	Het
Pdlim3	T	C	8: 45,909,065 (GRCm38)	F126S	probably damaging	Het
Pds5a	C	A	5: 65,638,604 (GRCm38)	G648C	probably benign	Het
Plekhh3	T	C	11: 101,164,327 (GRCm38)	I567V	unknown	Het
Ppfia2	T	C	10: 106,865,403 (GRCm38)		probably null	Het
Prl3d1	A	G	13: 27,100,069 (GRCm38)	D207G	probably damaging	Het
Prss23	T	A	7: 89,510,246 (GRCm38)	D205V	probably benign	Het
Pygl	C	T	12: 70,197,795 (GRCm38)		probably null	Het
Qsox2	A	G	2: 26,221,020 (GRCm38)	F111S	probably damaging	Het
Sart3	T	C	5: 113,771,352 (GRCm38)	N95S	probably benign	Het
Scpep1	A	G	11: 88,929,220 (GRCm38)	F414S	probably damaging	Het
Selenbp1	C	A	3: 94,937,348 (GRCm38)	Y105*	probably null	Het
Sirpa	A	G	2: 129,616,445 (GRCm38)	D327G	probably benign	Het
Sowahc	G	A	10: 59,222,183 (GRCm38)	R47H	probably damaging	Het
Szt2	T	C	4: 118,393,828 (GRCm38)	Y361C	probably damaging	Het
Taf3	A	G	2: 9,940,993 (GRCm38)	V600A	probably benign	Het
Tie1	T	C	4: 118,472,978 (GRCm38)	I1042M	probably damaging	Het
Tmem132e	T	A	11: 82,434,516 (GRCm38)	L114Q	probably damaging	Het
Tmx3	A	G	18: 90,537,109 (GRCm38)	T317A	probably damaging	Het
Tppp3	A	G	8: 105,468,292 (GRCm38)	V69A	probably benign	Het
Tpr	T	C	1: 150,423,516 (GRCm38)	Y1156H	probably damaging	Het
Trank1	A	C	9: 111,365,296 (GRCm38)	D796A	possibly damaging	Het
Tsc2	G	A	17: 24,607,492 (GRCm38)	P928S	probably benign	Het
Unc80	G	T	1: 66,672,684 (GRCm38)	V2722F	possibly damaging	Het
Vmn1r199	G	T	13: 22,382,675 (GRCm38)	L46F	probably benign	Het
Vps13a	A	T	19: 16,750,149 (GRCm38)	H196Q	probably benign	Het
Wnt10a	T	A	1: 74,793,474 (GRCm38)	C75*	probably null	Het
Zfp335	A	G	2: 164,892,539 (GRCm38)		probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGCCTCCCTTTGCATTAGTG -3'
(R):5'- AGCATCTAACAGCAGGAAGC -3'

Sequencing Primer
(F):5'- GTCTCCTTGTGTTCAGGGACATC -3'
(R):5'- GCAGGAAGCCCTTGAGG -3'

Posted On

2019-10-24