Mutagenetix > Incidental Mutation

Incidental Mutation 'R0374:Apbb1ip'

38493

Institutional Source

Beutler Lab

Gene Symbol

Apbb1ip

Ensembl Gene

ENSMUSG00000026786

Gene Name

amyloid beta precursor protein binding family B member 1 interacting protein

Synonyms

proline-rich protein 48, Prp48, 9930118P07Rik

MMRRC Submission

038580-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0374 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22664106-22765665 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 22709717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000014290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014290]

AlphaFold

Q8R5A3

PDB Structure

Crystal structure of the Ras-associating and pleckstrin-homology domains of RIAM [X-RAY DIFFRACTION]
Crystal structure of RIAM RA-PH domains in complex with GTP bound Rap1 [X-RAY DIFFRACTION]
Crystal structure of RIAM TBS1 in complex with talin R7R8 domains [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000014290

SMART Domains

Protein: ENSMUSP00000014290
Gene: ENSMUSG00000026786

Domain	Start	End	E-Value	Type
PDB:3ZDL\|B	1	31	1e-11	PDB
low complexity region	32	39	N/A	INTRINSIC
coiled coil region	62	88	N/A	INTRINSIC
low complexity region	102	118	N/A	INTRINSIC
RA	179	266	1.15e-22	SMART
low complexity region	280	299	N/A	INTRINSIC
PH	314	424	2.05e-10	SMART
low complexity region	516	532	N/A	INTRINSIC
low complexity region	553	570	N/A	INTRINSIC
low complexity region	577	598	N/A	INTRINSIC
low complexity region	622	636	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131195

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132993

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148315

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

99% (69/70)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and healthy with no apparent defects in platelet integrin activation and function, hemostasis, or arterial thrombus formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano9	A	G	7: 140,687,727 (GRCm39)	I267T	probably damaging	Het
Anxa6	T	A	11: 54,896,654 (GRCm39)	N168I	probably benign	Het
Aqr	G	A	2: 113,961,092 (GRCm39)	H723Y	probably damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
Car13	A	G	3: 14,721,357 (GRCm39)		probably benign	Het
Casp9	T	A	4: 141,534,484 (GRCm39)	I298N	possibly damaging	Het
Ccdc66	T	C	14: 27,220,430 (GRCm39)	E261G	probably damaging	Het
Cep192	T	A	18: 67,951,954 (GRCm39)	Y376*	probably null	Het
Cped1	T	A	6: 22,222,545 (GRCm39)		probably benign	Het
Ctbp2	A	T	7: 132,601,073 (GRCm39)	S563R	possibly damaging	Het
Ctdp1	A	G	18: 80,490,637 (GRCm39)		probably null	Het
Dgka	G	C	10: 128,556,952 (GRCm39)		probably benign	Het
Drd2	A	G	9: 49,311,084 (GRCm39)	T112A	probably benign	Het
Dusp1	A	G	17: 26,727,143 (GRCm39)	V52A	probably damaging	Het
Eea1	T	A	10: 95,875,634 (GRCm39)		probably benign	Het
Etfrf1	T	C	6: 145,161,288 (GRCm39)	V86A	probably benign	Het
Fbn1	A	T	2: 125,163,596 (GRCm39)	C2087S	possibly damaging	Het
Fosb	T	G	7: 19,041,075 (GRCm39)	R139S	probably damaging	Het
Foxm1	C	T	6: 128,349,566 (GRCm39)	R362W	probably damaging	Het
Frem2	A	G	3: 53,561,381 (GRCm39)	V1042A	probably damaging	Het
Gbe1	A	G	16: 70,280,802 (GRCm39)	H401R	probably benign	Het
Gm10549	C	T	18: 33,597,235 (GRCm39)		probably benign	Het
Golga7b	A	T	19: 42,251,758 (GRCm39)		probably benign	Het
H2-DMb1	T	C	17: 34,378,399 (GRCm39)	V235A	probably benign	Het
Hr	A	G	14: 70,793,916 (GRCm39)	T59A	probably benign	Het
Itpr2	C	A	6: 146,260,890 (GRCm39)	A588S	probably benign	Het
Kmt2c	G	A	5: 25,514,706 (GRCm39)	P3046S	probably damaging	Het
Lamc1	G	A	1: 153,126,811 (GRCm39)		probably benign	Het
Lrp2	A	G	2: 69,260,651 (GRCm39)	Y4527H	probably damaging	Het
Map3k2	G	A	18: 32,345,226 (GRCm39)		probably null	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Nfs1	C	G	2: 155,974,580 (GRCm39)	G212R	probably damaging	Het
Nol8	C	T	13: 49,815,923 (GRCm39)	A677V	possibly damaging	Het
Nrap	T	A	19: 56,340,054 (GRCm39)	Y740F	probably damaging	Het
Nup205	T	A	6: 35,185,772 (GRCm39)	M859K	probably damaging	Het
Nxf1	T	C	19: 8,745,103 (GRCm39)	F451S	possibly damaging	Het
Or5an1c	A	T	19: 12,218,505 (GRCm39)	N173K	probably damaging	Het
Or6c6c	G	A	10: 129,541,516 (GRCm39)	M256I	probably benign	Het
Pcdhac2	T	C	18: 37,278,720 (GRCm39)	Y567H	probably damaging	Het
Phlpp2	C	T	8: 110,634,145 (GRCm39)	R242W	probably damaging	Het
Pi4ka	A	G	16: 17,100,796 (GRCm39)		probably benign	Het
Pmpcb	A	G	5: 21,953,829 (GRCm39)	D359G	probably damaging	Het
Poll	T	G	19: 45,546,309 (GRCm39)	S244R	probably benign	Het
Prkd3	T	C	17: 79,264,644 (GRCm39)	D657G	probably null	Het
Prune2	G	A	19: 17,098,274 (GRCm39)	M1259I	probably benign	Het
Ptpra	T	A	2: 130,379,541 (GRCm39)	M329K	probably damaging	Het
Rbm10	GGGAGGAGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGGAG	GGGAGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGGAG	X: 20,503,798 (GRCm39)		probably benign	Het
Rbm15	G	T	3: 107,237,880 (GRCm39)	D839E	probably damaging	Het
Sap30bp	T	A	11: 115,855,103 (GRCm39)	I271N	probably damaging	Het
Scart2	T	A	7: 139,828,874 (GRCm39)	C178S	probably damaging	Het
Scn3a	A	T	2: 65,338,918 (GRCm39)	V587E	probably damaging	Het
Setdb1	A	T	3: 95,232,164 (GRCm39)		probably benign	Het
Sgk3	T	A	1: 9,949,306 (GRCm39)		probably null	Het
Shox2	A	T	3: 66,881,184 (GRCm39)	H265Q	probably damaging	Het
Slc9a2	T	C	1: 40,783,017 (GRCm39)	F427S	possibly damaging	Het
Smarca5	T	A	8: 81,463,360 (GRCm39)	Q69H	probably benign	Het
Specc1l	T	A	10: 75,084,293 (GRCm39)	F672Y	probably damaging	Het
Ssh2	T	A	11: 77,298,969 (GRCm39)	S105R	probably damaging	Het
Syne2	C	T	12: 75,968,000 (GRCm39)	R917*	probably null	Het
Tbc1d2	G	A	4: 46,649,913 (GRCm39)	T41M	possibly damaging	Het
Tbx18	T	A	9: 87,606,408 (GRCm39)	I246F	probably damaging	Het
Tcf4	T	A	18: 69,814,883 (GRCm39)		probably benign	Het
Tmed2	C	A	5: 124,679,502 (GRCm39)		probably null	Het
Tmem243	A	T	5: 9,151,361 (GRCm39)	D15V	possibly damaging	Het
Vmn2r87	T	A	10: 130,307,848 (GRCm39)	S797C	probably damaging	Het
Vps13c	T	A	9: 67,793,528 (GRCm39)		probably benign	Het
Wls	T	A	3: 159,603,074 (GRCm39)	C162*	probably null	Het
Zbtb7c	C	T	18: 76,270,464 (GRCm39)	T184I	probably benign	Het
Zc3h13	A	G	14: 75,546,405 (GRCm39)	K169E	probably damaging	Het

Other mutations in Apbb1ip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Apbb1ip	APN	2	22,748,292 (GRCm39)	missense	possibly damaging	0.59
IGL01447:Apbb1ip	APN	2	22,743,194 (GRCm39)	missense	probably damaging	1.00
IGL02987:Apbb1ip	APN	2	22,757,649 (GRCm39)	nonsense	probably null
IGL03329:Apbb1ip	APN	2	22,757,729 (GRCm39)	missense	possibly damaging	0.92
intelligence	UTSW	2	22,725,943 (GRCm39)	missense	probably damaging	1.00
psyops	UTSW	2	22,743,132 (GRCm39)	nonsense	probably null
Simulacrum	UTSW	2	22,757,005 (GRCm39)	critical splice donor site	probably null
Tangles	UTSW	2	22,713,610 (GRCm39)	critical splice donor site	probably null
R0842:Apbb1ip	UTSW	2	22,757,678 (GRCm39)	missense	possibly damaging	0.85
R1678:Apbb1ip	UTSW	2	22,764,892 (GRCm39)	splice site	probably null
R3855:Apbb1ip	UTSW	2	22,765,187 (GRCm39)	missense	unknown
R3971:Apbb1ip	UTSW	2	22,713,506 (GRCm39)	missense	unknown
R4335:Apbb1ip	UTSW	2	22,761,574 (GRCm39)	critical splice donor site	probably null
R4569:Apbb1ip	UTSW	2	22,739,556 (GRCm39)	missense	probably damaging	1.00
R4742:Apbb1ip	UTSW	2	22,716,928 (GRCm39)	missense	unknown
R4804:Apbb1ip	UTSW	2	22,713,610 (GRCm39)	critical splice donor site	probably null
R4820:Apbb1ip	UTSW	2	22,765,265 (GRCm39)	missense	unknown
R4854:Apbb1ip	UTSW	2	22,743,214 (GRCm39)	missense	possibly damaging	0.94
R4899:Apbb1ip	UTSW	2	22,713,361 (GRCm39)	missense	unknown
R4920:Apbb1ip	UTSW	2	22,709,696 (GRCm39)	missense	unknown
R5283:Apbb1ip	UTSW	2	22,757,683 (GRCm39)	missense	probably benign	0.16
R5445:Apbb1ip	UTSW	2	22,725,960 (GRCm39)	missense	possibly damaging	0.90
R6346:Apbb1ip	UTSW	2	22,757,005 (GRCm39)	critical splice donor site	probably null
R6495:Apbb1ip	UTSW	2	22,743,132 (GRCm39)	nonsense	probably null
R6542:Apbb1ip	UTSW	2	22,764,972 (GRCm39)	missense	probably benign	0.04
R6550:Apbb1ip	UTSW	2	22,748,245 (GRCm39)	missense	probably damaging	1.00
R7011:Apbb1ip	UTSW	2	22,725,943 (GRCm39)	missense	probably damaging	1.00
R7304:Apbb1ip	UTSW	2	22,743,147 (GRCm39)	splice site	probably null
R7554:Apbb1ip	UTSW	2	22,713,558 (GRCm39)	missense	unknown
R7690:Apbb1ip	UTSW	2	22,706,996 (GRCm39)	missense	unknown
R7723:Apbb1ip	UTSW	2	22,761,574 (GRCm39)	critical splice donor site	probably null
R7831:Apbb1ip	UTSW	2	22,756,933 (GRCm39)	missense	probably damaging	1.00
R7861:Apbb1ip	UTSW	2	22,706,990 (GRCm39)	missense	unknown
R8270:Apbb1ip	UTSW	2	22,765,004 (GRCm39)	missense	unknown
R8523:Apbb1ip	UTSW	2	22,709,648 (GRCm39)	missense	unknown
R9158:Apbb1ip	UTSW	2	22,764,951 (GRCm39)	missense	probably benign	0.01
R9696:Apbb1ip	UTSW	2	22,725,989 (GRCm39)	missense	probably benign	0.11
X0014:Apbb1ip	UTSW	2	22,713,566 (GRCm39)	small deletion	probably benign
Z1177:Apbb1ip	UTSW	2	22,765,115 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCCTTCACCAAGTCAGCAAAGTTTCTC -3'
(R):5'- GGAAGCGGGTCTTCTCTTTCATCATAG -3'

Sequencing Primer
(F):5'- CTCGTTATTTTCGAGTAGCACAG -3'
(R):5'- GTCCAGGGTTTACACACTGT -3'

Posted On

2013-05-23