Mutagenetix > Incidental Mutation

Incidental Mutation 'R7304:Itgb3bp'

567151

Institutional Source

Beutler Lab

Gene Symbol

Itgb3bp

Ensembl Gene

ENSMUSG00000028549

Gene Name

integrin beta 3 binding protein (beta3-endonexin)

Synonyms

4930471O16Rik

MMRRC Submission

045365-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7304 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99655643-99717403 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 99657758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glutamine at position 169 (E169Q)

Ref Sequence

ENSEMBL: ENSMUSP00000117153 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000146258]

AlphaFold

Q9CQ82

Predicted Effect

probably damaging
Transcript: ENSMUST00000146258
AA Change: E169Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117153
Gene: ENSMUSG00000028549
AA Change: E169Q

Domain	Start	End	E-Value	Type
Pfam:CENP-R	25	162	1e-63	PFAM

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional coregulator that binds to and enhances the activity of members of the nuclear receptor families, thyroid hormone receptors and retinoid X receptors. This protein also acts as a corepressor of NF-kappaB-dependent signaling. This protein induces apoptosis in breast cancer cells through a caspase 2-mediated signaling pathway. This protein is also a component of the centromere-specific histone H3 variant nucleosome associated complex (CENP-NAC) and may be involved in mitotic progression by recruiting the histone H3 variant CENP-A to the centromere. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,247,203 (GRCm39)	S2317G	probably benign	Het
Acap2	A	C	16: 30,926,934 (GRCm39)	L502R	probably benign	Het
Amotl2	A	G	9: 102,605,549 (GRCm39)	E467G	probably damaging	Het
Apbb1ip	A	T	2: 22,743,147 (GRCm39)		probably null	Het
Armc9	C	G	1: 86,090,437 (GRCm39)	D77E	probably benign	Het
Art1	T	A	7: 101,755,531 (GRCm39)	S8T	possibly damaging	Het
Asic5	G	A	3: 81,916,872 (GRCm39)	A321T	possibly damaging	Het
Astn2	A	G	4: 66,103,612 (GRCm39)	I267T	unknown	Het
Bmp8a	T	C	4: 123,236,182 (GRCm39)	N107S	probably benign	Het
Card14	T	A	11: 119,228,573 (GRCm39)	L633Q	probably damaging	Het
Chpf	C	T	1: 75,455,698 (GRCm39)	V18M	possibly damaging	Het
Cog7	T	C	7: 121,536,362 (GRCm39)	I493V	probably benign	Het
Col3a1	A	T	1: 45,386,971 (GRCm39)	N1394I	unknown	Het
Crybg1	C	T	10: 43,873,254 (GRCm39)	D1285N	probably benign	Het
Depdc7	A	G	2: 104,553,463 (GRCm39)	V395A	possibly damaging	Het
Dido1	G	A	2: 180,329,286 (GRCm39)	L379F	probably damaging	Het
Dnajc13	G	T	9: 104,115,713 (GRCm39)	T32N	probably benign	Het
Dok2	T	A	14: 71,013,468 (GRCm39)	S133R	probably benign	Het
Ehbp1l1	C	T	19: 5,766,410 (GRCm39)	R1311H	probably damaging	Het
Gm3099	A	T	14: 15,346,488 (GRCm39)	N118I	probably damaging	Het
Gtse1	A	G	15: 85,755,748 (GRCm39)	T471A	probably benign	Het
Heg1	G	A	16: 33,581,160 (GRCm39)	A13T	possibly damaging	Het
Ifi209	A	T	1: 173,470,156 (GRCm39)	Y248F	possibly damaging	Het
Irag1	T	C	7: 110,498,931 (GRCm39)	T367A	possibly damaging	Het
Kcna2	A	G	3: 107,012,066 (GRCm39)	T216A	probably benign	Het
Kcnj6	A	T	16: 94,742,042 (GRCm39)	M10K	probably benign	Het
Krt17	T	G	11: 100,148,163 (GRCm39)	Q397P	probably benign	Het
Lrtm1	T	A	14: 28,744,075 (GRCm39)	M181K	probably damaging	Het
Map3k5	A	G	10: 19,975,301 (GRCm39)	H741R	probably damaging	Het
Mier1	T	A	4: 102,996,599 (GRCm39)	Y120*	probably null	Het
Myh14	T	A	7: 44,279,415 (GRCm39)	T922S	probably benign	Het
Nfkbie	A	T	17: 45,871,067 (GRCm39)	I240F	possibly damaging	Het
Npas3	C	A	12: 54,115,824 (GRCm39)	H915Q	probably damaging	Het
Nrg2	A	T	18: 36,178,994 (GRCm39)	V314E	probably benign	Het
Or2z9	T	A	8: 72,854,190 (GRCm39)	Y195*	probably null	Het
Pds5a	T	C	5: 65,777,077 (GRCm39)	N28S	probably damaging	Het
Pira1	T	C	7: 3,740,493 (GRCm39)	T243A	probably damaging	Het
Pkhd1l1	A	T	15: 44,361,878 (GRCm39)	N517I	possibly damaging	Het
Plekhb1	T	C	7: 100,294,874 (GRCm39)	Y99C	probably benign	Het
Plpp6	T	C	19: 28,941,617 (GRCm39)	S73P	probably benign	Het
Polb	T	C	8: 23,129,975 (GRCm39)	N199S	probably benign	Het
Ppp1r13b	T	C	12: 111,838,840 (GRCm39)	N13D	possibly damaging	Het
Prorp	A	G	12: 55,351,429 (GRCm39)	D246G	probably damaging	Het
Ptprn2	T	A	12: 117,212,164 (GRCm39)	V862D	probably damaging	Het
Rassf4	T	C	6: 116,617,278 (GRCm39)	I242M	probably damaging	Het
Rnf19a	G	A	15: 36,254,598 (GRCm39)	T320I	probably damaging	Het
Sctr	A	T	1: 119,949,970 (GRCm39)	E53V	probably damaging	Het
Srcin1	T	C	11: 97,442,519 (GRCm39)	D103G	probably benign	Het
St3gal3	T	C	4: 117,814,633 (GRCm39)	Q220R		Het
Stk40	G	A	4: 126,019,483 (GRCm39)	E86K	probably benign	Het
Tas2r104	T	A	6: 131,662,005 (GRCm39)	I235F	possibly damaging	Het
Terf2ip	T	C	8: 112,738,280 (GRCm39)	V56A	possibly damaging	Het
Thsd7b	A	G	1: 130,030,890 (GRCm39)	N1075S	probably benign	Het
Trak1	A	G	9: 121,245,278 (GRCm39)	Y51C	probably benign	Het
Trav16n	T	A	14: 53,588,859 (GRCm39)	V45E	probably benign	Het
Ttc6	T	C	12: 57,622,837 (GRCm39)	S79P	probably damaging	Het
Unc79	C	T	12: 103,029,449 (GRCm39)	T484M	probably damaging	Het
Usp49	T	C	17: 47,983,796 (GRCm39)	V267A	possibly damaging	Het
Vldlr	T	A	19: 27,216,004 (GRCm39)	D305E	possibly damaging	Het
Vmn1r226	G	T	17: 20,908,011 (GRCm39)	C81F	probably damaging	Het
Vmn1r73	T	C	7: 11,490,824 (GRCm39)	V214A	probably damaging	Het
Vmn2r5	T	C	3: 64,411,671 (GRCm39)	N299S	probably damaging	Het
Vwa3b	T	C	1: 37,203,586 (GRCm39)	L55S	probably damaging	Het
Wdr90	T	C	17: 26,070,480 (GRCm39)	D1105G	probably benign	Het
Zbtb38	A	G	9: 96,569,480 (GRCm39)	S535P	probably damaging	Het
Zfp329	T	C	7: 12,544,826 (GRCm39)	I233V	probably damaging	Het
Zfp579	T	A	7: 4,997,582 (GRCm39)	T110S	probably benign	Het

Other mutations in Itgb3bp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02939:Itgb3bp	APN	4	99,690,373 (GRCm39)	missense	probably null	0.13
IGL03190:Itgb3bp	APN	4	99,677,923 (GRCm39)	splice site	probably benign
IGL03375:Itgb3bp	APN	4	99,657,724 (GRCm39)	splice site	probably benign
R0437:Itgb3bp	UTSW	4	99,670,126 (GRCm39)	missense	probably damaging	1.00
R0739:Itgb3bp	UTSW	4	99,690,433 (GRCm39)	missense	probably benign	0.19
R1017:Itgb3bp	UTSW	4	99,657,724 (GRCm39)	splice site	probably benign
R2005:Itgb3bp	UTSW	4	99,702,295 (GRCm39)	missense	probably benign	0.00
R3855:Itgb3bp	UTSW	4	99,686,957 (GRCm39)	missense	possibly damaging	0.90
R7104:Itgb3bp	UTSW	4	99,702,335 (GRCm39)	missense	probably damaging	0.99
X0020:Itgb3bp	UTSW	4	99,669,041 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGTATGCTACAGCCAGCTACTAG -3'
(R):5'- ACTGCATCACACCAGTGCTC -3'

Sequencing Primer
(F):5'- TGCTACAGCCAGCTACTAGAAAAAGG -3'
(R):5'- CCCTTAGAGCCAGAGTTGCATATG -3'

Posted On

2019-06-26