Mutagenetix > Incidental Mutation

Incidental Mutation 'R4804:Apbb1ip'

370524

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

041998-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4804 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22664106-22765665 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 22713610 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 null
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

Meta Mutation Damage Score

0.9752

Coding Region Coverage

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

Validation Efficiency

99% (78/79)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930527J03Rik	T	C	1: 178,103,675 (GRCm39)		noncoding transcript	Het
Ap4e1	T	C	2: 126,885,678 (GRCm39)		probably null	Het
Apol11b	T	A	15: 77,519,466 (GRCm39)	I205F	probably damaging	Het
Arl6ip1	A	T	7: 117,728,775 (GRCm39)		probably null	Het
Barx2	A	G	9: 31,758,108 (GRCm39)	S277P	unknown	Het
BC035947	T	G	1: 78,474,513 (GRCm39)	D673A	probably damaging	Het
Cacna2d1	A	T	5: 16,564,206 (GRCm39)	I930F	probably damaging	Het
Cd226	T	C	18: 89,225,292 (GRCm39)	V63A	possibly damaging	Het
Cdk8	A	G	5: 146,233,209 (GRCm39)	K236E	probably damaging	Het
Cds1	T	C	5: 101,969,389 (GRCm39)	L449P	probably damaging	Het
Celsr1	T	C	15: 85,822,154 (GRCm39)	D1721G	possibly damaging	Het
Chtf18	T	C	17: 25,938,231 (GRCm39)	D934G	probably benign	Het
Clk4	T	A	11: 51,172,150 (GRCm39)	L271Q	probably damaging	Het
Cnnm1	C	A	19: 43,480,014 (GRCm39)	T853N	probably benign	Het
Col26a1	A	G	5: 136,865,579 (GRCm39)	V103A	probably damaging	Het
D5Ertd579e	C	T	5: 36,786,996 (GRCm39)		probably null	Het
Ddx39a	A	G	8: 84,447,724 (GRCm39)	K190E	probably damaging	Het
Dgkg	G	A	16: 22,393,943 (GRCm39)		probably benign	Het
Dnajc14	A	T	10: 128,649,926 (GRCm39)	H477L	probably benign	Het
Dytn	A	G	1: 63,682,525 (GRCm39)	V374A	probably benign	Het
Gfra2	T	C	14: 71,163,361 (GRCm39)	Y215H	possibly damaging	Het
Grik1	A	G	16: 87,754,457 (GRCm39)	I376T	probably damaging	Het
Gzmm	A	T	10: 79,530,890 (GRCm39)	T231S	probably benign	Het
Hecw1	A	G	13: 14,480,570 (GRCm39)	S499P	probably benign	Het
Hhla1	T	C	15: 65,794,948 (GRCm39)	I511V	probably benign	Het
Ifnlr1	A	G	4: 135,432,647 (GRCm39)	D361G	possibly damaging	Het
Ikzf3	A	G	11: 98,381,400 (GRCm39)	V60A	probably benign	Het
Ipo4	G	C	14: 55,868,313 (GRCm39)	R495G	possibly damaging	Het
Kat2b-ps	A	T	5: 93,540,392 (GRCm39)		noncoding transcript	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Mblac2	T	A	13: 81,898,428 (GRCm39)	L268*	probably null	Het
Mipep	C	T	14: 61,040,401 (GRCm39)	T307I	probably damaging	Het
Ms4a14	A	G	19: 11,281,404 (GRCm39)	S385P	possibly damaging	Het
Myh2	T	A	11: 67,077,328 (GRCm39)	I821N	possibly damaging	Het
Myo5c	A	T	9: 75,152,306 (GRCm39)	I65F	probably damaging	Het
Neurog1	A	G	13: 56,399,579 (GRCm39)	L56P	probably benign	Het
Nrsn1	C	A	13: 25,437,580 (GRCm39)	C116F	probably benign	Het
Nscme3l	A	T	19: 5,553,028 (GRCm39)	M251K	possibly damaging	Het
Nynrin	T	C	14: 56,102,326 (GRCm39)	V665A	probably benign	Het
Or10w1	A	G	19: 13,631,882 (GRCm39)	M30V	probably benign	Het
Or2w1b	T	A	13: 21,300,175 (GRCm39)	Y104*	probably null	Het
Or5ak20	T	C	2: 85,183,425 (GRCm39)	I282V	probably benign	Het
Pakap	T	C	4: 57,854,688 (GRCm39)	S67P	probably benign	Het
Pcdhac1	C	T	18: 37,224,231 (GRCm39)	S348L	possibly damaging	Het
Pcnx4	T	C	12: 72,620,976 (GRCm39)	I932T	probably benign	Het
Pfkl	G	A	10: 77,827,228 (GRCm39)	T486I	probably benign	Het
Pi4ka	A	T	16: 17,126,025 (GRCm39)	M1115K	possibly damaging	Het
Rilpl1	A	G	5: 124,631,828 (GRCm39)	W173R	probably damaging	Het
Rnf111	A	T	9: 70,338,239 (GRCm39)	C900S	possibly damaging	Het
Ryr2	A	G	13: 11,731,983 (GRCm39)	V2319A	probably damaging	Het
Scnn1g	AATCCTGCAGGTGA	AA	7: 121,362,303 (GRCm39)		probably null	Het
Slc25a13	A	T	6: 6,109,213 (GRCm39)	L383H	probably damaging	Het
Slco2a1	C	T	9: 102,950,383 (GRCm39)	P325L	probably damaging	Het
Stoml2	T	C	4: 43,029,882 (GRCm39)	N162S	probably benign	Het
Syne1	G	T	10: 5,299,310 (GRCm39)	Q982K	possibly damaging	Het
Tbc1d31	C	T	15: 57,814,502 (GRCm39)	Q568*	probably null	Het
Tbc1d9	G	A	8: 83,982,554 (GRCm39)		probably null	Het
Tbx3	A	G	5: 119,818,577 (GRCm39)	D384G	possibly damaging	Het
Tecta	T	C	9: 42,309,533 (GRCm39)	I14V	probably benign	Het
Tgm1	A	T	14: 55,943,076 (GRCm39)	V588E	probably benign	Het
Tpk1	A	C	6: 43,570,012 (GRCm39)		probably benign	Het
Tspear	A	T	10: 77,612,791 (GRCm39)		probably null	Het
Ubxn10	G	T	4: 138,448,515 (GRCm39)	Q54K	possibly damaging	Het
Ubxn4	C	T	1: 128,194,141 (GRCm39)	R312*	probably null	Het
Vmn1r230	A	T	17: 21,067,345 (GRCm39)	K178M	probably damaging	Het
Zfp143	G	A	7: 109,687,976 (GRCm39)	V445I	probably damaging	Het
Zfp688	C	A	7: 127,021,057 (GRCm39)	W40C	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
R0374:Apbb1ip	UTSW	2	22,709,717 (GRCm39)	splice site	probably benign
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
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'- ACTTCTGAGGGCTTCGGATG -3'
(R):5'- GTTCTCACCAAAACAGATGTTGAAG -3'

Sequencing Primer
(F):5'- TTCGGATGGCCAGGGTACAG -3'
(R):5'- CATCTGTGGTATTCAGTTACAGC -3'

Posted On

2016-02-04