Mutagenetix > Incidental Mutation

Incidental Mutation 'R4854:Apbb1ip'

373763

Institutional Source

Beutler Lab

Gene Symbol

Apbb1ip

Ensembl Gene

ENSMUSG00000026786

Gene Name

amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein

Synonyms

9930118P07Rik, Prp48, proline-rich protein 48

MMRRC Submission

042465-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4854 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22774094-22875653 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22853202 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 349 (K349E)

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

possibly damaging
Transcript: ENSMUST00000014290
AA Change: K349E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000014290
Gene: ENSMUSG00000026786
AA Change: K349E

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: ENSMUST00000148315

Meta Mutation Damage Score

0.2368

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (103/105)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	T	A	9: 22,208,037		noncoding transcript	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
Abl1	T	C	2: 31,779,010	Y110H	probably damaging	Het
Ablim2	C	T	5: 35,802,422	R73C	possibly damaging	Het
Agbl3	G	A	6: 34,785,284	R73Q	probably damaging	Het
Agl	C	T	3: 116,778,618		probably null	Het
Amotl1	G	A	9: 14,593,451	Q191*	probably null	Het
Arhgap10	G	A	8: 77,420,089	Q229*	probably null	Het
Aspm	C	T	1: 139,478,072	Q1566*	probably null	Het
B3gnt3	G	A	8: 71,692,873	R284C	probably damaging	Het
Brd4	A	G	17: 32,220,237	V423A	probably damaging	Het
Btbd9	A	T	17: 30,524,865	I221N	probably damaging	Het
Camp	A	G	9: 109,847,451	V168A	probably benign	Het
Cd1d2	T	A	3: 86,989,249		probably null	Het
Cdkn2d	A	T	9: 21,290,927	V8D	probably benign	Het
Clec4g	T	C	8: 3,716,534	N256D	probably damaging	Het
Clspn	A	G	4: 126,575,950	I771V	probably benign	Het
Cntn6	A	G	6: 104,859,475	E862G	possibly damaging	Het
Col6a5	T	C	9: 105,898,751	T1702A	probably benign	Het
Dnah7a	T	C	1: 53,706,729		probably benign	Het
Dubr	T	C	16: 50,732,523		noncoding transcript	Het
Dusp26	G	A	8: 31,094,137	V91M	probably damaging	Het
Edc4	A	T	8: 105,887,925		probably benign	Het
F5	C	T	1: 164,192,146	A730V	probably damaging	Het
Foxf1	A	G	8: 121,086,814	T358A	probably benign	Het
Frem1	A	T	4: 82,916,758	N1810K	possibly damaging	Het
Galc	A	T	12: 98,256,877	F87I	probably damaging	Het
Gars	A	G	6: 55,046,418	D66G	probably damaging	Het
Gbp11	G	A	5: 105,325,508	L460F	probably damaging	Het
Gdf7	T	C	12: 8,298,014	I436V	probably damaging	Het
Gigyf2	C	T	1: 87,354,413		probably benign	Het
Gm12239	T	C	11: 56,015,953		noncoding transcript	Het
Gm5592	A	C	7: 41,217,471		probably benign	Het
Gp2	A	T	7: 119,452,199	D264E	possibly damaging	Het
Gphn	G	A	12: 78,627,210	V526M	probably damaging	Het
Grid1	A	G	14: 35,321,641	I318V	probably benign	Het
Grm2	C	A	9: 106,654,132	V53F	possibly damaging	Het
Gtpbp1	T	C	15: 79,719,205	S632P	probably benign	Het
H2-M1	A	G	17: 36,670,058	F329L	probably benign	Het
Hecw1	T	A	13: 14,316,892	D92V	probably benign	Het
Hgh1	T	C	15: 76,369,182	L76P	probably damaging	Het
Idi2	C	A	13: 8,957,843	N63K	probably benign	Het
Ift122	A	G	6: 115,862,746	T25A	possibly damaging	Het
Itgb2l	A	T	16: 96,426,117	C575*	probably null	Het
Jup	A	G	11: 100,383,041	S225P	possibly damaging	Het
Kcng3	A	T	17: 83,588,306	C244S	probably damaging	Het
Klhl2	T	A	8: 64,834,459	M46L	possibly damaging	Het
Ksr1	A	T	11: 79,027,702	I460N	probably damaging	Het
Lama3	T	A	18: 12,411,542	F314Y	probably benign	Het
Lbp	T	C	2: 158,327,518	V421A	possibly damaging	Het
Lcp1	G	A	14: 75,200,489	G113D	probably damaging	Het
Lrp1b	A	T	2: 41,111,077	L2045H	probably damaging	Het
Mbd2	G	T	18: 70,568,735	D107Y	unknown	Het
Ms4a14	C	T	19: 11,310,369	V96I	possibly damaging	Het
N4bp2l2	C	T	5: 150,662,051	E155K	probably benign	Het
Nbeal2	T	G	9: 110,631,396	H1790P	probably damaging	Het
Nsg2	G	A	11: 32,031,806	G84R	probably benign	Het
Odf3	A	G	7: 140,849,462	Y168C	probably damaging	Het
Olfr1145	A	G	2: 87,810,590	T257A	probably damaging	Het
Olfr286	A	C	15: 98,227,544	F34V	possibly damaging	Het
P2rx2	T	C	5: 110,340,927	N224D	probably damaging	Het
P2rx5	A	T	11: 73,171,779	E438V	probably benign	Het
Paip1	C	A	13: 119,449,889		probably benign	Het
Pik3c2g	T	A	6: 139,768,779	V219E	probably damaging	Het
Ppp1r12b	T	C	1: 134,873,951	E509G	probably damaging	Het
Ppp1r15a	T	C	7: 45,525,373	S4G	probably benign	Het
Ppp5c	T	C	7: 17,009,022	S224G	probably benign	Het
Prr30	T	G	14: 101,198,443	I228L	probably benign	Het
Purg	A	G	8: 33,387,314	I327V	possibly damaging	Het
Ralb	T	C	1: 119,475,915	T161A	probably benign	Het
Ripor3	T	C	2: 167,992,813	R253G	probably benign	Het
Scgb2b6	T	C	7: 31,617,832		noncoding transcript	Het
Setd5	G	T	6: 113,151,399	G1438W	probably damaging	Het
Sh3rf3	T	A	10: 58,813,723	L50Q	possibly damaging	Het
Sipa1l2	G	T	8: 125,473,601	T662K	probably damaging	Het
Skint5	A	G	4: 113,580,528	L1021S	unknown	Het
Slc22a23	T	C	13: 34,203,941	S391G	probably benign	Het
Slc4a5	G	A	6: 83,271,017	V402I	probably benign	Het
Slco4c1	G	A	1: 96,841,228	P303L	probably damaging	Het
Spink5	A	T	18: 44,020,841	*1018C	probably null	Het
Stag3	T	A	5: 138,296,694		probably null	Het
Tmem117	T	C	15: 95,094,688	F410L	probably damaging	Het
Tmod1	A	G	4: 46,090,920	K158E	possibly damaging	Het
Tpsb2	GGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTG	17: 25,366,562		probably benign	Het
Traf4	G	A	11: 78,161,520	Q100*	probably null	Het
Trpc4	A	G	3: 54,302,218	Y668C	probably damaging	Het
Ttn	T	A	2: 76,767,583	N11335I	possibly damaging	Het
Uhrf1bp1l	T	G	10: 89,794,484	V382G	probably damaging	Het
Usp39	A	T	6: 72,325,682	V463E	probably benign	Het
Vmn1r6	A	C	6: 57,002,698	Y115S	probably benign	Het
Vmn2r44	A	G	7: 8,380,301	I98T	possibly damaging	Het
Zfp462	A	G	4: 55,010,668	Y878C	probably damaging	Het
Zfp474	T	C	18: 52,638,431	I52T	possibly damaging	Het

Other mutations in Apbb1ip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Apbb1ip	APN	2	22858280	missense	possibly damaging	0.59
IGL01447:Apbb1ip	APN	2	22853182	missense	probably damaging	1.00
IGL02987:Apbb1ip	APN	2	22867637	nonsense	probably null
IGL03329:Apbb1ip	APN	2	22867717	missense	possibly damaging	0.92
intelligence	UTSW	2	22835931	missense	probably damaging	1.00
psyops	UTSW	2	22853120	nonsense	probably null
Simulacrum	UTSW	2	22866993	critical splice donor site	probably null
Tangles	UTSW	2	22823598	critical splice donor site	probably null
R0374:Apbb1ip	UTSW	2	22819705	splice site	probably benign
R0842:Apbb1ip	UTSW	2	22867666	missense	possibly damaging	0.85
R1678:Apbb1ip	UTSW	2	22874880	splice site	probably null
R3855:Apbb1ip	UTSW	2	22875175	missense	unknown
R3971:Apbb1ip	UTSW	2	22823494	missense	unknown
R4335:Apbb1ip	UTSW	2	22871562	critical splice donor site	probably null
R4569:Apbb1ip	UTSW	2	22849544	missense	probably damaging	1.00
R4742:Apbb1ip	UTSW	2	22826916	missense	unknown
R4804:Apbb1ip	UTSW	2	22823598	critical splice donor site	probably null
R4820:Apbb1ip	UTSW	2	22875253	missense	unknown
R4899:Apbb1ip	UTSW	2	22823349	missense	unknown
R4920:Apbb1ip	UTSW	2	22819684	missense	unknown
R5283:Apbb1ip	UTSW	2	22867671	missense	probably benign	0.16
R5445:Apbb1ip	UTSW	2	22835948	missense	possibly damaging	0.90
R6346:Apbb1ip	UTSW	2	22866993	critical splice donor site	probably null
R6495:Apbb1ip	UTSW	2	22853120	nonsense	probably null
R6542:Apbb1ip	UTSW	2	22874960	missense	probably benign	0.04
R6550:Apbb1ip	UTSW	2	22858233	missense	probably damaging	1.00
R7011:Apbb1ip	UTSW	2	22835931	missense	probably damaging	1.00
R7304:Apbb1ip	UTSW	2	22853135	splice site	probably null
R7554:Apbb1ip	UTSW	2	22823546	missense	unknown
R7690:Apbb1ip	UTSW	2	22816984	missense	unknown
R7723:Apbb1ip	UTSW	2	22871562	critical splice donor site	probably null
R7831:Apbb1ip	UTSW	2	22866921	missense	probably damaging	1.00
R7861:Apbb1ip	UTSW	2	22816978	missense	unknown
R8270:Apbb1ip	UTSW	2	22874992	missense	unknown
R8523:Apbb1ip	UTSW	2	22819636	missense	unknown
R9158:Apbb1ip	UTSW	2	22874939	missense	probably benign	0.01
R9696:Apbb1ip	UTSW	2	22835977	missense	probably benign	0.11
X0014:Apbb1ip	UTSW	2	22823554	small deletion	probably benign
Z1177:Apbb1ip	UTSW	2	22875103	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAGAATGTGTGTTTCATGCCTCTG -3'
(R):5'- GGCTGATCTCCAAAATTGAGCC -3'

Sequencing Primer
(F):5'- ATGCCTCTGGATTCTGCTTTCAGG -3'
(R):5'- CCTGGGGAAGACTATTTCTCTATCAG -3'

Posted On

2016-03-01