Mutagenetix > Incidental Mutations

Incidental Mutation 'R6133:Itgb4'

487246

Institutional Source

Beutler Lab

Gene Symbol

Itgb4

Ensembl Gene

ENSMUSG00000020758

Gene Name

integrin beta 4

Synonyms

CD104

MMRRC Submission

044280-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6133 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115974709-116008412 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 115984157 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 447 (R447W)

Ref Sequence

ENSEMBL: ENSMUSP00000127604 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021107] [ENSMUST00000068981] [ENSMUST00000106458] [ENSMUST00000106460] [ENSMUST00000106461] [ENSMUST00000169928]

Predicted Effect

probably benign
Transcript: ENSMUST00000021107
AA Change: R447W

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000021107
Gene: ENSMUSG00000020758
AA Change: R447W

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
PSI	30	74	3.89e-1	SMART
INB	38	457	4.23e-213	SMART
VWA	130	361	8.29e-1	SMART
EGF_like	544	576	3.23e1	SMART
Integrin_B_tail	628	712	1.32e-28	SMART
low complexity region	715	732	N/A	INTRINSIC
transmembrane domain	737	756	N/A	INTRINSIC
Calx_beta	980	1085	3.13e-35	SMART
FN3	1125	1203	3.15e-8	SMART
FN3	1218	1305	6.29e-8	SMART
low complexity region	1324	1332	N/A	INTRINSIC
FN3	1508	1589	1.79e-12	SMART
FN3	1621	1705	1.7e-13	SMART
low complexity region	1738	1751	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000068981
AA Change: R447W

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000070811
Gene: ENSMUSG00000020758
AA Change: R447W

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
PSI	30	74	3.89e-1	SMART
INB	38	457	4.23e-213	SMART
VWA	130	361	8.29e-1	SMART
EGF_like	544	576	3.23e1	SMART
Integrin_B_tail	628	713	7.06e-29	SMART
low complexity region	716	733	N/A	INTRINSIC
transmembrane domain	738	757	N/A	INTRINSIC
Calx_beta	981	1086	3.13e-35	SMART
FN3	1129	1207	3.15e-8	SMART
FN3	1222	1309	6.29e-8	SMART
low complexity region	1328	1336	N/A	INTRINSIC
FN3	1459	1540	1.79e-12	SMART
FN3	1572	1656	1.7e-13	SMART
low complexity region	1689	1702	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106458
AA Change: R447W

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102066
Gene: ENSMUSG00000020758
AA Change: R447W

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
PSI	30	74	3.89e-1	SMART
INB	38	457	4.23e-213	SMART
VWA	130	361	8.29e-1	SMART
EGF_like	544	576	3.23e1	SMART
Integrin_B_tail	628	713	7.06e-29	SMART
low complexity region	716	733	N/A	INTRINSIC
transmembrane domain	738	757	N/A	INTRINSIC
Calx_beta	981	1086	3.13e-35	SMART
FN3	1129	1207	3.15e-8	SMART
FN3	1222	1309	6.29e-8	SMART
low complexity region	1328	1336	N/A	INTRINSIC
low complexity region	1413	1425	N/A	INTRINSIC
FN3	1524	1605	1.79e-12	SMART
FN3	1637	1721	1.7e-13	SMART
low complexity region	1754	1767	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106460
AA Change: R447W

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102068
Gene: ENSMUSG00000020758
AA Change: R447W

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
PSI	30	74	3.89e-1	SMART
INB	38	457	4.23e-213	SMART
VWA	130	361	8.29e-1	SMART
EGF_like	544	576	3.23e1	SMART
Integrin_B_tail	628	713	7.06e-29	SMART
low complexity region	716	733	N/A	INTRINSIC
transmembrane domain	738	757	N/A	INTRINSIC
Calx_beta	981	1086	3.13e-35	SMART
FN3	1129	1207	3.15e-8	SMART
FN3	1222	1309	6.29e-8	SMART
low complexity region	1328	1336	N/A	INTRINSIC
FN3	1512	1593	1.79e-12	SMART
FN3	1625	1709	1.7e-13	SMART
low complexity region	1742	1755	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106461
AA Change: R447W

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102069
Gene: ENSMUSG00000020758
AA Change: R447W

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
PSI	30	74	3.89e-1	SMART
INB	38	457	4.23e-213	SMART
VWA	130	361	8.29e-1	SMART
EGF_like	544	576	3.23e1	SMART
Integrin_B_tail	628	713	7.06e-29	SMART
low complexity region	716	733	N/A	INTRINSIC
transmembrane domain	738	757	N/A	INTRINSIC
Calx_beta	981	1086	3.13e-35	SMART
FN3	1129	1207	3.15e-8	SMART
FN3	1222	1309	6.29e-8	SMART
low complexity region	1328	1336	N/A	INTRINSIC
low complexity region	1413	1425	N/A	INTRINSIC
FN3	1524	1605	1.79e-12	SMART
FN3	1637	1721	1.7e-13	SMART
low complexity region	1754	1767	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151691

Predicted Effect

probably benign
Transcript: ENSMUST00000169928
AA Change: R447W

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000127604
Gene: ENSMUSG00000020758
AA Change: R447W

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
PSI	30	74	3.89e-1	SMART
INB	38	457	4.23e-213	SMART
VWA	130	361	8.29e-1	SMART
EGF_like	544	576	3.23e1	SMART
Integrin_B_tail	628	712	1.32e-28	SMART
low complexity region	715	732	N/A	INTRINSIC
transmembrane domain	737	756	N/A	INTRINSIC
Calx_beta	980	1085	3.13e-35	SMART
FN3	1125	1203	3.15e-8	SMART
FN3	1218	1305	6.29e-8	SMART
low complexity region	1324	1332	N/A	INTRINSIC
FN3	1508	1589	1.79e-12	SMART
FN3	1621	1705	1.7e-13	SMART
low complexity region	1738	1751	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180782

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (47/47)

MGI Phenotype

FUNCTION: Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations die shortly after birth with extensive detachment of the epidermis and other squamus epithelia. Stratified tissues lack hemidesmosomes and simple epithelia are also defective in adherence. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	A	G	8: 88,325,439	T912A	possibly damaging	Het
Akap12	G	T	10: 4,355,178	G663C	probably benign	Het
Akap2	C	T	4: 57,855,516	Q525*	probably null	Het
Ankhd1	T	C	18: 36,625,126	S958P	possibly damaging	Het
Cmtm2a	T	C	8: 104,292,730	I76V	probably benign	Het
Cpxm2	G	A	7: 132,128,453	P146S	probably damaging	Het
Cubn	A	G	2: 13,308,618	V3047A	probably benign	Het
Dgkd	T	A	1: 87,938,240	V198E	possibly damaging	Het
Dnah3	A	T	7: 120,086,246	M181K	probably benign	Het
Dnah7a	T	C	1: 53,419,655	T3775A	probably benign	Het
Dsg2	A	G	18: 20,590,089	I391V	probably benign	Het
Ebi3	T	A	17: 55,954,311	V69E	probably benign	Het
Fn1	T	C	1: 71,597,727	T1998A	probably damaging	Het
Frmpd1	T	A	4: 45,284,915	H1245Q	probably benign	Het
Gm7145	T	A	1: 117,985,888	C167S	probably damaging	Het
Hydin	C	T	8: 110,601,276	T4805I	probably benign	Het
Kcnma1	C	T	14: 24,003,868	M21I	probably damaging	Het
Lrfn5	A	G	12: 61,843,788	D621G	probably benign	Het
Lrrc15	C	T	16: 30,274,236	G95D	probably benign	Het
Mex3d	A	G	10: 80,386,786	L212P	probably damaging	Het
Mmel1	C	T	4: 154,895,018	H728Y	probably damaging	Het
Naip1	A	G	13: 100,444,643	V32A	probably benign	Het
Nsl1	T	C	1: 191,071,206	L158P	probably damaging	Het
Olfr638	A	T	7: 104,003,325	T17S	possibly damaging	Het
Olfr771	G	A	10: 129,160,883	L34F	possibly damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Pcdh15	A	T	10: 74,645,973		probably null	Het
Pramef20	T	C	4: 144,377,777	R53G	possibly damaging	Het
Ptpn1	T	C	2: 167,967,796	V108A	possibly damaging	Het
Rad9b	T	C	5: 122,339,768	N182D	possibly damaging	Het
Rp1l1	C	T	14: 64,030,096	P1044S	probably damaging	Het
Scn2a	G	A	2: 65,743,104	V1433I	probably benign	Het
Ssrp1	T	G	2: 85,045,339		probably benign	Het
Suco	T	A	1: 161,835,183	K560*	probably null	Het
Tbx3	T	C	5: 119,680,953	V531A	probably benign	Het
Tmem30c	T	C	16: 57,277,737	Y107C	probably damaging	Het
Topbp1	T	A	9: 103,311,764		probably null	Het
Trpm5	A	T	7: 143,088,951	D86E	probably damaging	Het
Urb2	C	T	8: 124,028,561	Q336*	probably null	Het
Vmn2r43	A	G	7: 8,244,971	F731S	probably damaging	Het
Xkr9	A	G	1: 13,684,135	T118A	probably benign	Het
Zcchc2	A	C	1: 106,019,879	K117N	probably damaging	Het
Zfp52	T	C	17: 21,560,471	Y194H	probably damaging	Het
Zfp763	C	T	17: 33,018,701	C490Y	possibly damaging	Het
Zmynd19	G	T	2: 24,958,119	R148L	possibly damaging	Het

Other mutations in Itgb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01360:Itgb4	APN	11	115990940	missense	probably damaging	1.00
IGL01391:Itgb4	APN	11	115990920	missense	probably damaging	1.00
IGL01431:Itgb4	APN	11	116006457	splice site	probably benign
IGL01750:Itgb4	APN	11	115988926	missense	probably damaging	0.99
IGL01752:Itgb4	APN	11	115988926	missense	probably damaging	0.99
IGL01756:Itgb4	APN	11	115988926	missense	probably damaging	0.99
IGL01766:Itgb4	APN	11	115988926	missense	probably damaging	0.99
IGL01769:Itgb4	APN	11	115988926	missense	probably damaging	0.99
IGL02188:Itgb4	APN	11	116003387	missense	probably benign	0.08
IGL02262:Itgb4	APN	11	115988926	missense	probably damaging	0.99
IGL02293:Itgb4	APN	11	115988926	missense	probably damaging	0.99
IGL02318:Itgb4	APN	11	115988926	missense	probably damaging	0.99
IGL02319:Itgb4	APN	11	115988926	missense	probably damaging	0.99
IGL02338:Itgb4	APN	11	116007969	missense	probably damaging	1.00
IGL02734:Itgb4	APN	11	116005966	missense	probably benign
IGL02879:Itgb4	APN	11	115994352	missense	probably benign	0.05
IGL02889:Itgb4	APN	11	115988905	missense	probably damaging	1.00
IGL03183:Itgb4	APN	11	115988724	missense	probably damaging	1.00
IGL03054:Itgb4	UTSW	11	116000340	nonsense	probably null
R0021:Itgb4	UTSW	11	115979627	missense	possibly damaging	0.95
R0092:Itgb4	UTSW	11	115979124	missense	probably damaging	1.00
R0305:Itgb4	UTSW	11	115979412	missense	probably damaging	1.00
R0408:Itgb4	UTSW	11	116007602	missense	probably damaging	0.99
R0465:Itgb4	UTSW	11	115979756	missense	probably damaging	1.00
R0499:Itgb4	UTSW	11	115979695	missense	probably benign	0.00
R0535:Itgb4	UTSW	11	115991009	missense	possibly damaging	0.86
R0571:Itgb4	UTSW	11	115979768	missense	possibly damaging	0.94
R0613:Itgb4	UTSW	11	115993342	missense	probably damaging	0.98
R0838:Itgb4	UTSW	11	115998162	intron	probably benign
R1381:Itgb4	UTSW	11	115994337	missense	probably benign	0.00
R1451:Itgb4	UTSW	11	115990884	missense	probably damaging	1.00
R1459:Itgb4	UTSW	11	115979111	missense	probably benign	0.42
R1460:Itgb4	UTSW	11	115984164	missense	probably damaging	0.96
R1473:Itgb4	UTSW	11	115984047	missense	probably benign	0.01
R1484:Itgb4	UTSW	11	115999799	missense	probably benign	0.01
R1593:Itgb4	UTSW	11	115980991	missense	probably damaging	1.00
R1623:Itgb4	UTSW	11	115991316	nonsense	probably null
R1633:Itgb4	UTSW	11	116007760	missense	probably damaging	1.00
R1642:Itgb4	UTSW	11	116007357	missense	probably damaging	1.00
R1669:Itgb4	UTSW	11	115991330	missense	probably benign	0.07
R1713:Itgb4	UTSW	11	116003489	missense	probably damaging	1.00
R1732:Itgb4	UTSW	11	115988918	missense	probably damaging	1.00
R1791:Itgb4	UTSW	11	115988520	missense	probably damaging	1.00
R1847:Itgb4	UTSW	11	115983764	missense	probably benign	0.31
R1902:Itgb4	UTSW	11	115980738	missense	probably damaging	0.98
R1945:Itgb4	UTSW	11	115993453	nonsense	probably null
R2102:Itgb4	UTSW	11	116005735	missense	probably benign	0.23
R2184:Itgb4	UTSW	11	115979624	missense	probably damaging	0.96
R2334:Itgb4	UTSW	11	115993435	missense	probably damaging	1.00
R2401:Itgb4	UTSW	11	116006563	missense	possibly damaging	0.67
R3743:Itgb4	UTSW	11	116003670	missense	probably damaging	1.00
R3938:Itgb4	UTSW	11	116005926	missense	possibly damaging	0.92
R4134:Itgb4	UTSW	11	116006470	missense	probably benign	0.03
R4280:Itgb4	UTSW	11	115990935	missense	probably damaging	1.00
R4342:Itgb4	UTSW	11	115988729	missense	probably benign	0.01
R4434:Itgb4	UTSW	11	115999814	missense	probably benign	0.10
R4505:Itgb4	UTSW	11	115983261	splice site	silent
R4585:Itgb4	UTSW	11	115993325	missense	probably damaging	1.00
R4586:Itgb4	UTSW	11	115993325	missense	probably damaging	1.00
R4601:Itgb4	UTSW	11	116005722	missense	probably damaging	1.00
R4921:Itgb4	UTSW	11	116006605	missense	probably benign	0.12
R4962:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R5027:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R5029:Itgb4	UTSW	11	115988591	intron	probably benign
R5084:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R5085:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R5124:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R5125:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R5150:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R5175:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R5176:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R5179:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R5207:Itgb4	UTSW	11	116006539	missense	probably damaging	1.00
R5263:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R5264:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R5334:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R5337:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R5344:Itgb4	UTSW	11	115989749	missense	probably null	0.92
R5391:Itgb4	UTSW	11	115985068	missense	probably benign	0.05
R5437:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R5440:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R5653:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R5654:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R5655:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R5772:Itgb4	UTSW	11	115988432	intron	probably benign
R5812:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R5813:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R5814:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R5863:Itgb4	UTSW	11	115990922	missense	probably damaging	1.00
R5864:Itgb4	UTSW	11	115990922	missense	probably damaging	1.00
R5865:Itgb4	UTSW	11	115990922	missense	probably damaging	1.00
R5951:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R5954:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R5982:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R6043:Itgb4	UTSW	11	115979386	missense	probably benign	0.30
R6134:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R6135:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R6169:Itgb4	UTSW	11	115994276	missense	probably damaging	0.98
R6172:Itgb4	UTSW	11	116000411	missense	probably benign	0.23
R6255:Itgb4	UTSW	11	115998137	missense	possibly damaging	0.83
R6258:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R6259:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R6260:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
R6612:Itgb4	UTSW	11	115984071	missense	probably benign	0.00
R7037:Itgb4	UTSW	11	116005565	nonsense	probably null
R7371:Itgb4	UTSW	11	115998080	missense	probably benign	0.29
R7605:Itgb4	UTSW	11	116006476	missense	probably benign	0.01
R7659:Itgb4	UTSW	11	115979731	missense	probably damaging	1.00
R7759:Itgb4	UTSW	11	116003710	missense	possibly damaging	0.92
R7804:Itgb4	UTSW	11	116003684	missense	probably damaging	1.00
R7832:Itgb4	UTSW	11	116000261	missense	probably damaging	1.00
R7842:Itgb4	UTSW	11	115982705	missense	probably benign	0.18
R7923:Itgb4	UTSW	11	115982699	critical splice acceptor site	probably null
R8004:Itgb4	UTSW	11	115982705	missense	probably benign	0.00
R8143:Itgb4	UTSW	11	115993429	missense	probably damaging	1.00
R8427:Itgb4	UTSW	11	115991718	critical splice donor site	probably null
X0062:Itgb4	UTSW	11	115993452	missense	probably damaging	1.00
Z1176:Itgb4	UTSW	11	116006520	missense	probably damaging	1.00
Z1177:Itgb4	UTSW	11	115986811	missense	probably damaging	0.99
Z1177:Itgb4	UTSW	11	115998058	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAAGTCCCTGTCCATACACTG -3'
(R):5'- TCTCTGTGACTTGGGACAGC -3'

Sequencing Primer
(F):5'- TGAGCGAACAGGCTAATGTC -3'
(R):5'- TTTTACCCAGGGTCCTAG -3'

Posted On

2017-10-10