Mutagenetix > Incidental Mutation

Incidental Mutation 'R7723:Apbb1ip'

595313

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

045779-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7723 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22664106-22765665 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 22761574 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (57/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brinp3	C	T	1: 146,577,409 (GRCm39)	T148I	probably damaging	Het
C1qa	A	T	4: 136,623,744 (GRCm39)	C153*	probably null	Het
Camkk1	G	T	11: 72,928,058 (GRCm39)	R363L	probably benign	Het
Ccdc80	T	G	16: 44,946,798 (GRCm39)		probably null	Het
Cenpu	T	C	8: 47,029,349 (GRCm39)	S351P	probably damaging	Het
Chd9	C	T	8: 91,741,837 (GRCm39)	L1609F	unknown	Het
Cnr1	T	A	4: 33,944,416 (GRCm39)	I268N	probably damaging	Het
Cyp3a59	A	T	5: 146,016,154 (GRCm39)	I4F	probably benign	Het
Dph6	A	G	2: 114,475,236 (GRCm39)	V93A	probably damaging	Het
Egf	T	A	3: 129,499,786 (GRCm39)	M785L	probably benign	Het
Fbn1	A	T	2: 125,223,954 (GRCm39)	C598*	probably null	Het
Fer	T	C	17: 64,203,273 (GRCm39)	S68P	probably damaging	Het
Herc1	C	T	9: 66,279,158 (GRCm39)	T22I	probably benign	Het
Kat2b	A	G	17: 53,945,415 (GRCm39)	D278G	possibly damaging	Het
Kdm1a	C	T	4: 136,285,060 (GRCm39)	V520I	probably benign	Het
Lrrc4c	G	T	2: 97,460,999 (GRCm39)	V542L	possibly damaging	Het
Lrrtm3	T	C	10: 63,924,427 (GRCm39)	T247A	possibly damaging	Het
Macf1	T	C	4: 123,326,717 (GRCm39)	S4929G	probably benign	Het
Mbd4	A	T	6: 115,822,324 (GRCm39)	H428Q	possibly damaging	Het
Mink1	C	G	11: 70,503,736 (GRCm39)	Q1183E	probably benign	Het
Myo9a	C	T	9: 59,687,141 (GRCm39)	P82L	probably damaging	Het
Nts	T	C	10: 102,320,784 (GRCm39)	T102A	probably damaging	Het
Nup35	T	C	2: 80,486,375 (GRCm39)	I230T	possibly damaging	Het
Nwd2	A	T	5: 63,965,347 (GRCm39)	T1644S	possibly damaging	Het
Nynrin	T	A	14: 56,109,502 (GRCm39)	N1536K	possibly damaging	Het
Or10d5j	A	T	9: 39,867,920 (GRCm39)	Y104N	possibly damaging	Het
Or13p10	A	G	4: 118,522,914 (GRCm39)	S67G	probably benign	Het
Or2at4	A	G	7: 99,384,884 (GRCm39)	Y178C	possibly damaging	Het
Or2l13b	A	T	16: 19,349,358 (GRCm39)	L104*	probably null	Het
Or5d44	A	C	2: 88,141,819 (GRCm39)	V107G	possibly damaging	Het
Palld	C	T	8: 62,164,492 (GRCm39)	V400I	probably damaging	Het
Pank2	T	C	2: 131,122,258 (GRCm39)	V261A	probably damaging	Het
Pcdhb3	C	A	18: 37,435,565 (GRCm39)	N510K	probably damaging	Het
Pfkfb2	A	T	1: 130,635,325 (GRCm39)	Y79N	probably damaging	Het
Phc2	C	T	4: 128,616,882 (GRCm39)	A385V	probably benign	Het
Prob1	T	C	18: 35,785,942 (GRCm39)	T771A	possibly damaging	Het
Psmb6	T	C	11: 70,417,396 (GRCm39)	V109A	possibly damaging	Het
Ptcd1	T	C	5: 145,091,639 (GRCm39)	T487A	probably damaging	Het
Ralgapa1	A	T	12: 55,788,298 (GRCm39)	M595K	probably benign	Het
Rps12	A	T	10: 23,662,752 (GRCm39)	V14D	probably benign	Het
Scn3b	C	A	9: 40,199,693 (GRCm39)	S203*	probably null	Het
Serinc1	G	A	10: 57,403,918 (GRCm39)	P15L	probably benign	Het
Six2	A	G	17: 85,995,103 (GRCm39)	I93T	probably benign	Het
Slco1a1	T	A	6: 141,854,795 (GRCm39)	I619F	probably damaging	Het
Snx25	A	C	8: 46,491,516 (GRCm39)	V858G	probably damaging	Het
Sspo	G	A	6: 48,441,572 (GRCm39)	C1903Y	probably damaging	Het
Tas2r116	T	A	6: 132,832,867 (GRCm39)	I156N	probably benign	Het
Tasp1	G	T	2: 139,827,051 (GRCm39)	T189K	probably damaging	Het
Tdrd6	A	T	17: 43,936,851 (GRCm39)	M1399K	probably benign	Het
Tecta	C	A	9: 42,278,232 (GRCm39)	C1092F	probably damaging	Het
Tmem150a	G	A	6: 72,336,057 (GRCm39)	V215I	probably damaging	Het
Tmem176b	C	T	6: 48,812,869 (GRCm39)	V109I	probably benign	Het
Trav8d-1	T	A	14: 53,016,321 (GRCm39)	I69K	probably damaging	Het
Ttn	A	T	2: 76,638,419 (GRCm39)	L13954I	probably damaging	Het
Veph1	C	A	3: 66,113,093 (GRCm39)	C237F	possibly damaging	Het
Vmn1r121	G	A	7: 20,832,119 (GRCm39)	T107I	probably damaging	Het
Zdhhc13	G	A	7: 48,458,567 (GRCm39)	M300I	probably benign	Het
Zfp608	T	C	18: 55,030,673 (GRCm39)	D1089G	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
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
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'- AGTGCTTTGTATTTGCAGACTCTC -3'
(R):5'- AAAGCAGTGTCATTAATGGCTG -3'

Sequencing Primer
(F):5'- ATTTGCAGACTCTCCTTCAAACATAC -3'
(R):5'- TCTAGCCTCGGAAGCTTTATG -3'

Posted On

2019-11-12