Mutagenetix > Incidental Mutations

Incidental Mutation 'R6255:Itgb4'

506068

Institutional Source

Beutler Lab

Gene Symbol

Itgb4

Ensembl Gene

ENSMUSG00000020758

Gene Name

integrin beta 4

Synonyms

CD104

MMRRC Submission

044372-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6255 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115974709-116008412 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115998137 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1102 (V1102A)

Ref Sequence

ENSEMBL: ENSMUSP00000102069 (fasta)

Gene Model

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

AlphaFold

A2A863

Predicted Effect

probably benign
Transcript: ENSMUST00000021107
AA Change: V1101A

PolyPhen 2 Score 0.419 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000021107
Gene: ENSMUSG00000020758
AA Change: V1101A

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

possibly damaging
Transcript: ENSMUST00000068981
AA Change: V1102A

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000070811
Gene: ENSMUSG00000020758
AA Change: V1102A

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

possibly damaging
Transcript: ENSMUST00000106458
AA Change: V1102A

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102066
Gene: ENSMUSG00000020758
AA Change: V1102A

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

possibly damaging
Transcript: ENSMUST00000106460
AA Change: V1102A

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102068
Gene: ENSMUSG00000020758
AA Change: V1102A

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

possibly damaging
Transcript: ENSMUST00000106461
AA Change: V1102A

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102069
Gene: ENSMUSG00000020758
AA Change: V1102A

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: ENSMUST00000130286

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151691

Predicted Effect

probably benign
Transcript: ENSMUST00000169928
AA Change: V1101A

PolyPhen 2 Score 0.419 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000127604
Gene: ENSMUSG00000020758
AA Change: V1101A

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (58/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,466,123	V7E	possibly damaging	Het
Aars2	G	A	17: 45,514,609	G333S	probably damaging	Het
Aen	T	A	7: 78,905,844	I85N	probably damaging	Het
Ahnak	C	A	19: 9,008,025	H2224Q	possibly damaging	Het
Aldh18a1	C	T	19: 40,580,043	R41H	possibly damaging	Het
Bpifb9b	T	A	2: 154,309,364	W2R	probably damaging	Het
Caprin2	A	G	6: 148,877,892	I139T	probably benign	Het
Cdhr3	T	A	12: 33,053,475	N381I	probably damaging	Het
Cecr2	A	G	6: 120,758,050	Y721C	probably damaging	Het
Cherp	G	T	8: 72,470,881	A125D	probably damaging	Het
Cped1	G	A	6: 22,138,715		probably null	Het
Ctdp1	T	A	18: 80,459,297		probably null	Het
Cyp2c55	T	C	19: 39,018,667	I169T	probably benign	Het
Cyp4a31	T	C	4: 115,574,920	L418P	possibly damaging	Het
Efcab7	T	C	4: 99,829,390		probably benign	Het
Efcab8	T	C	2: 153,810,268	W466R	possibly damaging	Het
Ehd3	C	A	17: 73,805,413	N57K	probably benign	Het
Ern2	C	A	7: 122,173,272	K654N	probably damaging	Het
Fbxo18	A	T	2: 11,748,446	F879L	probably benign	Het
Gde1	T	C	7: 118,691,781	D92G	probably null	Het
Gm4788	A	T	1: 139,753,011	C256*	probably null	Het
Heatr5b	A	G	17: 78,803,434	V995A	probably damaging	Het
Ifrd2	A	G	9: 107,592,091	E346G	probably damaging	Het
Ism1	AACGGACCCGTTCTTGTGGCTATGCA	AA	2: 139,746,042		probably benign	Het
Itgb6	A	T	2: 60,605,276	I710N	probably damaging	Het
Kif1a	T	C	1: 93,019,983	K1578E	probably damaging	Het
Kif9	T	C	9: 110,517,834		probably null	Het
Kitl	T	C	10: 100,089,233	*57Q	probably null	Het
Lrat	C	A	3: 82,903,505	V70F	probably damaging	Het
Lrrc9	T	A	12: 72,487,023	M1022K	probably benign	Het
Muc16	T	C	9: 18,655,599	T1875A	unknown	Het
Mup4	T	A	4: 59,957,890	N171I	probably damaging	Het
Npas4	G	A	19: 4,986,375	T587I	probably damaging	Het
Oas3	A	G	5: 120,771,230	V217A	probably benign	Het
Olfr786	A	G	10: 129,437,688	N292S	possibly damaging	Het
Osbp	C	A	19: 11,977,953	A323D	possibly damaging	Het
Panx2	G	A	15: 89,067,618	R96H	probably damaging	Het
Pcdhb18	G	A	18: 37,490,484	R289Q	probably benign	Het
Piezo2	T	C	18: 63,121,270	R385G	possibly damaging	Het
Pkn2	T	C	3: 142,811,599	T476A	probably damaging	Het
Plekha4	T	C	7: 45,553,802		probably benign	Het
Ppfibp2	T	C	7: 107,681,762	S94P	probably damaging	Het
Pramel7	T	A	2: 87,489,663	I429L	probably benign	Het
Rif1	A	G	2: 52,085,053	K325E	probably damaging	Het
Ror2	T	C	13: 53,110,542	Y826C	probably damaging	Het
Rsph10b	G	A	5: 143,959,746	G19R	probably damaging	Het
Slc20a1	A	G	2: 129,208,004	N361D	probably damaging	Het
Slc26a9	A	G	1: 131,763,909	D630G	probably benign	Het
Smtnl2	G	A	11: 72,401,399	A274V	probably damaging	Het
Trank1	T	C	9: 111,352,246		probably null	Het
Tspan10	T	A	11: 120,444,542	C159*	probably null	Het
Uba6	G	A	5: 86,164,765	T23I	probably benign	Het
Vmn2r74	T	C	7: 85,952,451	T660A	possibly damaging	Het
Vwa5b1	T	C	4: 138,578,672	N905S	probably benign	Het
Zfp831	T	C	2: 174,646,421	L963P	possibly damaging	Het
Zfp990	T	A	4: 145,537,789	N452K	probably benign	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
R6133:Itgb4	UTSW	11	115984157	missense	probably benign	0.00
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
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
R8857:Itgb4	UTSW	11	115981027	missense	probably benign	0.04
R8863:Itgb4	UTSW	11	115985072	nonsense	probably null
R8932:Itgb4	UTSW	11	115988469	missense	probably benign	0.01
R9153:Itgb4	UTSW	11	115984053	missense	probably benign	0.00
R9207:Itgb4	UTSW	11	116007097	missense	probably damaging	1.00
R9239:Itgb4	UTSW	11	116007304	missense	probably damaging	1.00
R9267:Itgb4	UTSW	11	115979639	missense	probably benign
R9289:Itgb4	UTSW	11	115994361	missense	probably benign	0.01
R9328:Itgb4	UTSW	11	115989799	missense	probably benign	0.00
R9435:Itgb4	UTSW	11	116005029	missense	probably benign	0.01
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'- AGAGCTGCTGTTCCATCCTG -3'
(R):5'- CCAAGACTATATAGTGAGACAGCATC -3'

Sequencing Primer
(F):5'- TGTTCCATCCTGGGGAGAC -3'
(R):5'- TCCAGATATTGCAGGAAGACACTTG -3'

Posted On

2018-02-28