Mutagenetix > Incidental Mutation

Incidental Mutation 'R7861:Apbb1ip'

607480

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

045914-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7861 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22774094-22875653 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 22816978 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 9 (D9A)

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

unknown
Transcript: ENSMUST00000014290
AA Change: D9A

SMART Domains

Protein: ENSMUSP00000014290
Gene: ENSMUSG00000026786
AA Change: D9A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	A	5: 103,649,494	I50F	possibly damaging	Het
Abcc3	T	C	11: 94,357,249	D1175G	probably null	Het
Accs	C	A	2: 93,835,732	*503L	probably null	Het
Adgra2	A	G	8: 27,114,457	E520G	probably damaging	Het
Aldh7a1	C	A	18: 56,548,453	C215F	probably benign	Het
Atad2	G	A	15: 58,125,780	A228V	probably benign	Het
Atp10a	T	C	7: 58,788,359	S430P	probably damaging	Het
Atp1a3	T	C	7: 25,001,148	D6G	unknown	Het
Brca1	A	T	11: 101,526,422	N295K	possibly damaging	Het
Caly	C	A	7: 140,081,388		probably benign	Het
Ces1h	A	G	8: 93,357,425	Y386H	unknown	Het
Col14a1	A	G	15: 55,444,616	D1044G	unknown	Het
Csf2rb	A	G	15: 78,349,157	D888G	probably damaging	Het
Cux1	T	C	5: 136,252,604	E568G	possibly damaging	Het
Cyhr1	C	T	15: 76,648,186	D241N	probably benign	Het
Dhrs7b	T	A	11: 60,855,742	L219Q	probably damaging	Het
Dlg5	G	A	14: 24,245,212	P80L	probably damaging	Het
Dnah14	C	T	1: 181,616,759	P545S	probably damaging	Het
Dnajc24	A	T	2: 106,002,035	M1K	probably null	Het
Dusp12	C	T	1: 170,874,526	W301*	probably null	Het
Dyrk1a	G	T	16: 94,691,716	G603*	probably null	Het
Eif4g1	T	A	16: 20,679,702	V403E	probably benign	Het
Epn3	T	C	11: 94,496,274	E90G	probably damaging	Het
Etl4	A	G	2: 20,805,910	S1303G	probably benign	Het
Evpl	A	T	11: 116,228,069	Y627N	probably damaging	Het
Fbxw25	A	T	9: 109,664,557	L22*	probably null	Het
Fcamr	T	A	1: 130,814,638	N587K	probably benign	Het
Fgd6	A	G	10: 94,103,331	N946S	probably benign	Het
Fndc3b	A	T	3: 27,468,999	I477N	possibly damaging	Het
Grifin	C	T	5: 140,564,525	A54T	probably benign	Het
Gtf2b	A	G	3: 142,781,344	I180M	probably damaging	Het
Invs	A	T	4: 48,397,559	D378V	possibly damaging	Het
Itgb6	T	C	2: 60,628,444	E378G	probably damaging	Het
Khdc1a	T	C	1: 21,350,399	I81T	possibly damaging	Het
Kif20b	T	A	19: 34,939,922	D617E	probably damaging	Het
Kifc3	T	A	8: 95,107,537		probably null	Het
Kirrel3	C	T	9: 35,020,123	H403Y	possibly damaging	Het
Klf15	G	A	6: 90,466,838	V132I	probably benign	Het
Kmt2a	A	G	9: 44,818,734	S3429P	unknown	Het
Lama1	T	G	17: 67,809,221	L2361R		Het
Lrp1b	T	C	2: 40,697,558	D3895G		Het
Mcoln3	A	C	3: 146,124,791	E92A	possibly damaging	Het
Myo3b	T	C	2: 70,108,688	M135T	probably damaging	Het
Mysm1	A	G	4: 94,946,967	*820Q	probably null	Het
Ncoa7	A	G	10: 30,691,060	S541P	probably benign	Het
Nup54	T	C	5: 92,431,093	T33A	unknown	Het
Olfr118	C	A	17: 37,672,517	Q165K	possibly damaging	Het
Olfr1290	T	A	2: 111,490,024	I45F	probably damaging	Het
Olfr1496	T	C	19: 13,781,446	V276A	possibly damaging	Het
Olfr45	T	G	7: 140,691,571	I222S	probably damaging	Het
Olfr586	T	A	7: 103,122,692	I27F	probably benign	Het
Otud6b	A	G	4: 14,826,414	C18R	probably benign	Het
Pde4d	A	G	13: 109,935,324	E284G	probably damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431		probably benign	Het
Pidd1	C	A	7: 141,440,142	W598L	probably damaging	Het
Pira2	A	T	7: 3,844,544	C49S	probably damaging	Het
Pramef6	T	C	4: 143,897,718	M70V	possibly damaging	Het
Prdx1	T	G	4: 116,693,738	D135E	probably benign	Het
Rab15	T	A	12: 76,803,129	Y88F	probably damaging	Het
Rem2	C	A	14: 54,477,799	H144Q	probably damaging	Het
Sel1l3	T	C	5: 53,144,064	D737G	probably damaging	Het
Srd5a3	C	T	5: 76,147,819	Q119*	probably null	Het
Suclg2	G	T	6: 95,594,722	Q120K	probably benign	Het
Tacc2	T	A	7: 130,625,431	M1282K	probably benign	Het
Tbc1d5	T	A	17: 50,756,692	Q620L	probably damaging	Het
Tdrd3	G	T	14: 87,472,154	A91S	probably damaging	Het
Thsd7b	T	A	1: 130,159,698	F1184Y	probably benign	Het
Trim28	T	A	7: 13,028,412	V321E	possibly damaging	Het
Trim5	C	A	7: 104,266,468		probably null	Het
Ugt2b37	A	T	5: 87,242,440	Y382*	probably null	Het
Usp40	C	T	1: 87,982,130	G534D	probably damaging	Het
Usp53	A	T	3: 122,934,463	H823Q	probably benign	Het
Vmn2r12	T	A	5: 109,087,963	M508L	probably benign	Het
Vmn2r56	T	A	7: 12,715,424	I296F	probably benign	Het
Vps13a	T	C	19: 16,655,304	S2563G	probably damaging	Het
Wdr59	A	G	8: 111,494,280	F207L		Het
Zan	A	G	5: 137,407,033	S3777P	unknown	Het
Zfp277	T	C	12: 40,315,881	N530D	possibly damaging	Het
Zfp365	G	A	10: 67,909,919	R10W	probably damaging	Het
Zfp384	A	T	6: 125,036,325	H452L	probably damaging	Het
Zfyve28	A	T	5: 34,217,143	L509Q	probably 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
R4854:Apbb1ip	UTSW	2	22853202	missense	possibly damaging	0.94
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
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'- TGCAGCAGGTCCCAAGATTTAAG -3'
(R):5'- CATCAGGGCACATGATGTTGC -3'

Sequencing Primer
(F):5'- GGTCCCAAGATTTAAGCTTAACCTC -3'
(R):5'- TTGCAATCCATGACCACC -3'

Posted On

2019-12-20