Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02318:Itgb4'

288125

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itgb4

Ensembl Gene

ENSMUSG00000020758

Gene Name

integrin beta 4

Synonyms

CD104

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02318

Quality Score

Status

Chromosome

Chromosomal Location

115974709-116008412 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 115988926 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 635 (V635I)

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: V635I

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000021107
Gene: ENSMUSG00000020758
AA Change: V635I

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 damaging
Transcript: ENSMUST00000068981
AA Change: V635I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000070811
Gene: ENSMUSG00000020758
AA Change: V635I

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 damaging
Transcript: ENSMUST00000106458
AA Change: V635I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102066
Gene: ENSMUSG00000020758
AA Change: V635I

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 damaging
Transcript: ENSMUST00000106460
AA Change: V635I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102068
Gene: ENSMUSG00000020758
AA Change: V635I

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 damaging
Transcript: ENSMUST00000106461
AA Change: V635I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102069
Gene: ENSMUSG00000020758
AA Change: V635I

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: ENSMUST00000127523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130286

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151691

Predicted Effect

probably benign
Transcript: ENSMUST00000169928
AA Change: V635I

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000127604
Gene: ENSMUSG00000020758
AA Change: V635I

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

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	A	G	5: 138,563,576	F116S	probably damaging	Het
2410089E03Rik	A	G	15: 8,175,025	K96E	probably damaging	Het
4930467E23Rik	T	C	8: 19,747,799		probably null	Het
Abhd18	G	A	3: 40,930,227		probably null	Het
Akr1c6	G	T	13: 4,438,497	C34F	probably benign	Het
Ankef1	T	A	2: 136,544,775	I180N	possibly damaging	Het
Ap1b1	G	A	11: 5,019,294	V217I	probably benign	Het
Arhgap27	T	C	11: 103,333,163	Q608R	probably benign	Het
Arhgap32	A	G	9: 32,259,331	T1136A	probably benign	Het
Ascc3	T	A	10: 50,728,154	Y1323*	probably null	Het
Bsx	A	C	9: 40,874,221	Q15P	probably benign	Het
Cdh20	A	G	1: 104,954,039	I410V	probably null	Het
Col20a1	A	G	2: 181,007,159	D945G	probably damaging	Het
Cox20	A	G	1: 178,322,478		probably null	Het
Cpne9	A	G	6: 113,293,738	D305G	possibly damaging	Het
Cyp2d12	A	G	15: 82,555,243	T33A	probably benign	Het
Dvl3	A	G	16: 20,523,743	R149G	possibly damaging	Het
Dysf	A	G	6: 84,186,464	I1624V	possibly damaging	Het
Echs1	A	T	7: 140,111,710	L167Q	probably damaging	Het
Ect2	A	T	3: 27,138,719	N358K	probably benign	Het
Eml4	A	G	17: 83,441,366	I230V	probably benign	Het
Fut10	A	G	8: 31,236,258	Y347C	probably damaging	Het
Gfm2	C	A	13: 97,162,975	N401K	probably damaging	Het
Gm4788	T	A	1: 139,781,097	E24D	probably benign	Het
Gm4795	C	T	10: 45,006,639		noncoding transcript	Het
Gm5592	C	A	7: 41,286,788	T238N	probably benign	Het
Gm9892	T	C	8: 52,196,225		noncoding transcript	Het
Greb1l	G	T	18: 10,469,388	M134I	possibly damaging	Het
Grk3	A	G	5: 112,937,803	Y314H	probably damaging	Het
Hrh2	T	C	13: 54,214,650	I215T	probably damaging	Het
Ilkap	A	G	1: 91,385,238		probably null	Het
Inpp4a	T	C	1: 37,368,303	Y233H	probably damaging	Het
Lmo7	C	T	14: 101,900,066		probably benign	Het
Luc7l3	C	T	11: 94,292,993	R440Q	probably benign	Het
Mis18bp1	A	C	12: 65,158,741	I219S	probably benign	Het
Myo9b	G	A	8: 71,354,124	E1581K	probably damaging	Het
Nfs1	T	A	2: 156,124,271	Q458L	probably damaging	Het
Numb	A	T	12: 83,831,918		probably null	Het
Nxf1	G	A	19: 8,764,150		probably null	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Olfr67	A	G	7: 103,788,268	V3A	probably benign	Het
Pde2a	A	T	7: 101,503,343	Y371F	possibly damaging	Het
Phlpp2	G	T	8: 109,939,873	L1011F	probably benign	Het
Prss27	G	T	17: 24,045,597	V245L	probably benign	Het
Rbm7	T	C	9: 48,494,111	N56S	probably damaging	Het
Rftn1	T	C	17: 50,036,970	I97V	possibly damaging	Het
Ric3	T	C	7: 109,048,080	T178A	probably damaging	Het
Rock1	A	G	18: 10,104,323		probably benign	Het
Sall2	T	C	14: 52,315,565	T56A	probably damaging	Het
Sgk1	T	C	10: 21,995,541	S60P	probably damaging	Het
Smarcad1	G	A	6: 65,073,239	A281T	probably damaging	Het
Spta1	A	G	1: 174,174,463	H53R	possibly damaging	Het
Thbs4	T	C	13: 92,763,584	D468G	probably damaging	Het
Tmem108	A	T	9: 103,499,782	V156E	probably benign	Het
Tmem206	A	G	1: 191,348,408	E275G	possibly damaging	Het
Tnfaip3	T	G	10: 19,004,467	R617S	probably benign	Het
Traf3	A	G	12: 111,237,597	M7V	probably benign	Het
Ubr3	T	A	2: 69,979,397	I1237N	probably damaging	Het
Vmn2r23	T	C	6: 123,741,836	V716A	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
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
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
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
R9450:Itgb4	UTSW	11	115983271	missense	probably damaging	1.00
R9649:Itgb4	UTSW	11	115994345	missense	possibly damaging	0.78
R9779:Itgb4	UTSW	11	115991659	missense	probably damaging	1.00
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

Posted On

2015-04-16