Mutagenetix > Incidental Mutation

Incidental Mutation 'R7124:Itgb8'

552226

Institutional Source

Beutler Lab

Gene Symbol

Itgb8

Ensembl Gene

ENSMUSG00000025321

Gene Name

integrin beta 8

Synonyms

4832412O06Rik

MMRRC Submission

045212-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7124 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119121757-119202537 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 119166159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 124 (S124*)

Ref Sequence

ENSEMBL: ENSMUSP00000026360 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026360]

AlphaFold

Q0VBD0

Predicted Effect

probably null
Transcript: ENSMUST00000026360
AA Change: S124*

SMART Domains

Protein: ENSMUSP00000026360
Gene: ENSMUSG00000025321
AA Change: S124*

Domain	Start	End	E-Value	Type
Blast:INB	1	44	9e-8	BLAST
PSI	46	95	6.65e-9	SMART
INB	54	469	4.31e-237	SMART
VWA	146	352	2.15e-1	SMART
Blast:INB	494	532	9e-12	BLAST
EGF	551	583	1.53e1	SMART
transmembrane domain	680	702	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

97% (72/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the integrin beta chain family and encodes a single-pass type I membrane protein with a VWFA domain and four cysteine-rich repeats. This protein noncovalently binds to an alpha subunit to form a heterodimeric integrin complex. In general, integrin complexes mediate cell-cell and cell-extracellular matrix interactions and this complex plays a role in human airway epithelial proliferation. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruption of this gene either die before E11.5 as a result of circulatory abnormalities in the placenta or die within the first for days after birth and display intracerebral hemorrhaging. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	C	3: 124,208,042 (GRCm39)	S212R	probably benign	Het
4930562C15Rik	T	C	16: 4,682,196 (GRCm39)	S170P	probably benign	Het
9330182O14Rik	G	A	15: 40,008,303 (GRCm39)	C59Y	unknown	Het
AA986860	A	G	1: 130,670,624 (GRCm39)	E282G	possibly damaging	Het
Adam1a	G	T	5: 121,657,397 (GRCm39)	T632K	probably benign	Het
Aspg	G	T	12: 112,089,417 (GRCm39)	A402S	probably damaging	Het
Capn7	C	T	14: 31,058,642 (GRCm39)		probably benign	Het
Card9	C	T	2: 26,246,896 (GRCm39)		probably null	Het
Cdh13	T	C	8: 119,694,912 (GRCm39)	V254A	probably damaging	Het
Colec10	T	C	15: 54,325,767 (GRCm39)	V199A	probably damaging	Het
Copb2	T	C	9: 98,459,106 (GRCm39)	S283P	probably damaging	Het
Csmd1	G	T	8: 15,953,202 (GRCm39)	S3426R	probably damaging	Het
Cyp4f14	A	G	17: 33,133,562 (GRCm39)	V98A	probably benign	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dysf	A	G	6: 84,167,883 (GRCm39)		probably null	Het
Efcab3	T	C	11: 104,629,100 (GRCm39)	F926S	probably benign	Het
Eif4ebp1	T	C	8: 27,763,447 (GRCm39)	V80A	probably damaging	Het
Eloa	T	A	4: 135,736,452 (GRCm39)	I565F	probably damaging	Het
Espn	G	T	4: 152,215,721 (GRCm39)	H513N	probably benign	Het
Fam83c	C	T	2: 155,671,491 (GRCm39)	S648N	probably benign	Het
Fdxr	C	T	11: 115,160,403 (GRCm39)	V351M	probably benign	Het
Fras1	A	T	5: 96,862,260 (GRCm39)	D2213V	probably damaging	Het
Gbp4	T	A	5: 105,267,825 (GRCm39)	I474F	possibly damaging	Het
Golgb1	T	C	16: 36,734,035 (GRCm39)	V1135A	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Hipk2	A	T	6: 38,795,413 (GRCm39)	Y285*	probably null	Het
Ifi27l2b	T	C	12: 103,417,579 (GRCm39)	I203V	probably damaging	Het
Itga10	T	A	3: 96,559,081 (GRCm39)	M390K	probably damaging	Het
Klhdc10	T	A	6: 30,441,826 (GRCm39)	F173I	probably damaging	Het
Kng2	T	G	16: 22,830,805 (GRCm39)	N168T	probably damaging	Het
Krtap24-1	T	C	16: 88,408,434 (GRCm39)	T231A	probably damaging	Het
Lbx2	A	T	6: 83,065,045 (GRCm39)	D194V	probably damaging	Het
Lrrc39	C	A	3: 116,359,562 (GRCm39)	Q36K	probably benign	Het
Madd	T	C	2: 90,992,393 (GRCm39)	E1093G	possibly damaging	Het
Mfap3l	A	G	8: 61,124,303 (GRCm39)	T182A	probably damaging	Het
Myo9b	T	A	8: 71,786,345 (GRCm39)	Y670*	probably null	Het
Nbea	A	G	3: 55,899,865 (GRCm39)	L1428P	probably damaging	Het
Nkx2-3	T	C	19: 43,603,245 (GRCm39)	Y284H	possibly damaging	Het
Nphp4	A	G	4: 152,640,141 (GRCm39)	D1009G	probably benign	Het
Npy2r	G	A	3: 82,448,490 (GRCm39)	A95V	probably damaging	Het
Nuggc	A	G	14: 65,846,251 (GRCm39)	E70G	probably damaging	Het
Or5ap2	T	C	2: 85,680,254 (GRCm39)	S153P	probably benign	Het
Or5m11	T	A	2: 85,781,817 (GRCm39)	S137T	possibly damaging	Het
Palld	A	T	8: 61,969,679 (GRCm39)	V1215D	unknown	Het
Pard6g	T	C	18: 80,160,340 (GRCm39)	I151T	possibly damaging	Het
Parp12	T	C	6: 39,088,670 (GRCm39)	I189V	probably benign	Het
Parp4	A	G	14: 56,840,256 (GRCm39)	I554V	probably benign	Het
Pcnx2	G	A	8: 126,480,356 (GRCm39)	P1984S	probably damaging	Het
Piwil4	T	C	9: 14,648,196 (GRCm39)	M128V	probably benign	Het
Polr2a	C	A	11: 69,628,288 (GRCm39)	E1302*	probably null	Het
Psg17	C	A	7: 18,548,421 (GRCm39)	G450V	probably damaging	Het
Psg17	C	G	7: 18,548,422 (GRCm39)	G450R	probably damaging	Het
Rag1	T	C	2: 101,474,128 (GRCm39)	E338G	probably damaging	Het
Rev3l	A	T	10: 39,698,163 (GRCm39)	K887*	probably null	Het
Rragd	T	C	4: 32,996,027 (GRCm39)	F124S	possibly damaging	Het
Scube1	A	T	15: 83,513,712 (GRCm39)		probably null	Het
Sfpq	A	T	4: 126,919,725 (GRCm39)	D490V	possibly damaging	Het
Smc1b	G	T	15: 84,955,798 (GRCm39)	Q1034K	probably damaging	Het
Smg7	T	C	1: 152,753,831 (GRCm39)	N5S	probably benign	Het
Spata31d1a	A	C	13: 59,850,301 (GRCm39)	L609R	probably damaging	Het
Ssh2	A	G	11: 77,345,164 (GRCm39)	K1050E	probably benign	Het
Stab1	G	A	14: 30,882,824 (GRCm39)	T393I	possibly damaging	Het
Sult2a4	C	T	7: 13,722,320 (GRCm39)	W49*	probably null	Het
Thrap3	A	T	4: 126,074,231 (GRCm39)	S172T	unknown	Het
Tmem130	A	G	5: 144,687,721 (GRCm39)	V205A	probably damaging	Het
Ube2d2b	A	G	5: 107,978,717 (GRCm39)	I123V	probably benign	Het
Unc79	G	T	12: 103,027,652 (GRCm39)	L414F	probably damaging	Het
Vmn2r30	C	T	7: 7,337,183 (GRCm39)	S151N	probably benign	Het
Vmn2r54	T	A	7: 12,356,078 (GRCm39)	T443S	probably benign	Het
Zfp229	T	A	17: 21,961,597 (GRCm39)	S51T	probably damaging	Het
Zfp617	T	C	8: 72,686,384 (GRCm39)	L238P	probably damaging	Het
Zfp707	T	A	15: 75,845,398 (GRCm39)	C87*	probably null	Het
Zfp853	T	C	5: 143,275,362 (GRCm39)	K101R	unknown	Het

Other mutations in Itgb8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Itgb8	APN	12	119,153,561 (GRCm39)	missense	probably damaging	0.99
IGL01859:Itgb8	APN	12	119,153,680 (GRCm39)	missense	probably damaging	1.00
IGL02555:Itgb8	APN	12	119,153,616 (GRCm39)	missense	probably damaging	1.00
IGL02665:Itgb8	APN	12	119,130,600 (GRCm39)	splice site	probably benign
IGL02732:Itgb8	APN	12	119,127,088 (GRCm39)	missense	probably benign	0.09
R0090:Itgb8	UTSW	12	119,166,298 (GRCm39)	missense	probably benign	0.00
R0245:Itgb8	UTSW	12	119,154,290 (GRCm39)	missense	probably damaging	1.00
R0629:Itgb8	UTSW	12	119,166,216 (GRCm39)	missense	probably benign	0.38
R1158:Itgb8	UTSW	12	119,166,231 (GRCm39)	missense	probably damaging	1.00
R1355:Itgb8	UTSW	12	119,134,738 (GRCm39)	missense	probably benign	0.03
R1370:Itgb8	UTSW	12	119,134,738 (GRCm39)	missense	probably benign	0.03
R1604:Itgb8	UTSW	12	119,166,265 (GRCm39)	missense	probably damaging	1.00
R1689:Itgb8	UTSW	12	119,134,555 (GRCm39)	missense	probably benign	0.38
R1782:Itgb8	UTSW	12	119,155,853 (GRCm39)	missense	probably damaging	0.99
R1789:Itgb8	UTSW	12	119,166,190 (GRCm39)	missense	probably benign
R2113:Itgb8	UTSW	12	119,154,347 (GRCm39)	missense	probably damaging	1.00
R2301:Itgb8	UTSW	12	119,166,190 (GRCm39)	missense	probably benign
R3696:Itgb8	UTSW	12	119,140,746 (GRCm39)	missense	probably damaging	0.99
R3797:Itgb8	UTSW	12	119,127,204 (GRCm39)	missense	possibly damaging	0.92
R3911:Itgb8	UTSW	12	119,131,740 (GRCm39)	missense	possibly damaging	0.65
R4904:Itgb8	UTSW	12	119,134,606 (GRCm39)	missense	probably benign	0.00
R5391:Itgb8	UTSW	12	119,134,476 (GRCm39)	missense	probably damaging	1.00
R5395:Itgb8	UTSW	12	119,134,476 (GRCm39)	missense	probably damaging	1.00
R5444:Itgb8	UTSW	12	119,201,573 (GRCm39)	utr 5 prime	probably benign
R5461:Itgb8	UTSW	12	119,131,740 (GRCm39)	missense	probably benign	0.28
R5610:Itgb8	UTSW	12	119,134,429 (GRCm39)	missense	probably damaging	1.00
R5669:Itgb8	UTSW	12	119,154,363 (GRCm39)	missense	probably damaging	1.00
R5877:Itgb8	UTSW	12	119,166,271 (GRCm39)	missense	probably benign	0.37
R6581:Itgb8	UTSW	12	119,126,950 (GRCm39)	missense	probably benign	0.41
R6597:Itgb8	UTSW	12	119,137,133 (GRCm39)	missense	possibly damaging	0.94
R6631:Itgb8	UTSW	12	119,144,712 (GRCm39)	nonsense	probably null
R6971:Itgb8	UTSW	12	119,154,366 (GRCm39)	missense	probably damaging	1.00
R7246:Itgb8	UTSW	12	119,131,785 (GRCm39)	missense	probably damaging	1.00
R7282:Itgb8	UTSW	12	119,201,443 (GRCm39)	missense	probably benign	0.00
R7299:Itgb8	UTSW	12	119,166,196 (GRCm39)	missense	probably benign	0.00
R7340:Itgb8	UTSW	12	119,155,939 (GRCm39)	missense	probably benign	0.45
R7373:Itgb8	UTSW	12	119,166,210 (GRCm39)	missense	probably benign	0.01
R7766:Itgb8	UTSW	12	119,127,094 (GRCm39)	missense	probably damaging	1.00
R7855:Itgb8	UTSW	12	119,130,507 (GRCm39)	missense	probably benign
R8195:Itgb8	UTSW	12	119,131,905 (GRCm39)	missense	probably damaging	1.00
R8354:Itgb8	UTSW	12	119,134,513 (GRCm39)	missense	probably benign	0.01
R8454:Itgb8	UTSW	12	119,134,513 (GRCm39)	missense	probably benign	0.01
R9151:Itgb8	UTSW	12	119,130,535 (GRCm39)	missense	probably benign	0.30
R9583:Itgb8	UTSW	12	119,153,708 (GRCm39)	missense	possibly damaging	0.91
R9588:Itgb8	UTSW	12	119,140,754 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AGTTTAGCTACAAACATGACAGGG -3'
(R):5'- AAGGTTTCTTAAGTTGTCACAGAGG -3'

Sequencing Primer
(F):5'- GACAAGATCTGAGCTCAGTAGACTTC -3'
(R):5'- GATAAGCAAAGGCTGTCC -3'

Posted On

2019-05-15