Mutagenetix > Incidental Mutation

Incidental Mutation 'R7011:Apbb1ip'

544996

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

045112-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7011 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22664106-22765665 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22725943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 238 (E238D)

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 damaging
Transcript: ENSMUST00000014290
AA Change: E238D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000014290
Gene: ENSMUSG00000026786
AA Change: E238D

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

Meta Mutation Damage Score

0.7677

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (66/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	C	T	11: 46,033,845 (GRCm39)	P886S	probably benign	Het
Anapc1	C	T	2: 128,490,601 (GRCm39)		probably null	Het
Ankrd34c	C	A	9: 89,611,001 (GRCm39)	G447*	probably null	Het
Arfgap1	T	C	2: 180,613,935 (GRCm39)	L110P	probably damaging	Het
Arhgap21	G	A	2: 20,853,689 (GRCm39)	T1901I	possibly damaging	Het
Brpf1	C	A	6: 113,295,427 (GRCm39)	Q679K	probably benign	Het
Btnl2	A	G	17: 34,582,487 (GRCm39)	E351G	probably damaging	Het
Cd209f	T	A	8: 4,154,859 (GRCm39)	T80S	probably benign	Het
Cdc16	A	G	8: 13,819,451 (GRCm39)	E349G	probably damaging	Het
Cfap53	A	T	18: 74,462,564 (GRCm39)	D436V	probably benign	Het
Crhr2	A	T	6: 55,076,195 (GRCm39)		probably null	Het
Cux1	T	C	5: 136,388,887 (GRCm39)	K226E	probably damaging	Het
Ddr2	A	T	1: 169,809,672 (GRCm39)	D768E	probably damaging	Het
Dhx8	T	C	11: 101,632,346 (GRCm39)	L435P	probably damaging	Het
Dnah11	AGGCC	AGGCCGGCC	12: 117,885,753 (GRCm39)		probably null	Het
Eif4ebp1	G	A	8: 27,763,372 (GRCm39)	R55Q	probably damaging	Het
Fbh1	T	A	2: 11,767,774 (GRCm39)	D358V	probably damaging	Het
Fra10ac1	T	A	19: 38,177,242 (GRCm39)	E304D	probably benign	Het
Gabrb2	T	C	11: 42,517,488 (GRCm39)	S399P	possibly damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gprin2	G	T	14: 33,917,393 (GRCm39)	H126N	probably null	Het
Gucy1a1	A	G	3: 82,016,422 (GRCm39)	S189P	probably damaging	Het
Htr1d	T	C	4: 136,170,317 (GRCm39)	M182T	probably benign	Het
Lipc	A	G	9: 70,726,236 (GRCm39)	F73L	probably benign	Het
Liph	A	G	16: 21,802,847 (GRCm39)	I74T	probably damaging	Het
Lrif1	T	G	3: 106,639,601 (GRCm39)	Y229D	probably damaging	Het
Magel2	C	T	7: 62,028,281 (GRCm39)	T395I	possibly damaging	Het
Magi3	T	C	3: 104,013,070 (GRCm39)	N139S	probably damaging	Het
Man2c1	T	A	9: 57,045,117 (GRCm39)	V336E	probably damaging	Het
Mapk12	A	T	15: 89,019,803 (GRCm39)	Y135N	probably damaging	Het
Mapkapk3	C	T	9: 107,166,595 (GRCm39)		probably benign	Het
Mast1	A	T	8: 85,638,574 (GRCm39)	Y653*	probably null	Het
Muc16	T	A	9: 18,548,747 (GRCm39)	I5849F	probably benign	Het
Muc16	T	A	9: 18,548,839 (GRCm39)	H5818L	probably benign	Het
Ndufa10	A	G	1: 92,398,581 (GRCm39)	S68P	probably damaging	Het
Nedd1	C	A	10: 92,526,635 (GRCm39)	L503F	probably benign	Het
Nr1i3	A	G	1: 171,041,927 (GRCm39)	M4V	probably benign	Het
Or12e9	G	A	2: 87,202,604 (GRCm39)	A243T	possibly damaging	Het
Or2av9	T	A	11: 58,380,970 (GRCm39)	I204F	possibly damaging	Het
Or4f14b	A	T	2: 111,775,031 (GRCm39)	F257I	probably benign	Het
Or9i2	T	C	19: 13,816,403 (GRCm39)	I45V	probably benign	Het
Pcdh18	A	T	3: 49,709,231 (GRCm39)	S695T	probably benign	Het
Pcdha1	T	C	18: 37,063,588 (GRCm39)	I84T	probably damaging	Het
Plek	T	A	11: 16,944,760 (GRCm39)	D90V	possibly damaging	Het
Ppp6r1	A	G	7: 4,649,825 (GRCm39)	C47R	probably damaging	Het
Psg27	G	C	7: 18,290,798 (GRCm39)	N468K	probably benign	Het
Ptchd4	G	A	17: 42,814,759 (GRCm39)	E887K	probably benign	Het
Rabgap1	C	T	2: 37,430,492 (GRCm39)	L678F	probably damaging	Het
Rmdn3	T	C	2: 118,968,904 (GRCm39)	Y429C	probably damaging	Het
Ros1	A	T	10: 52,056,272 (GRCm39)	C73S	probably damaging	Het
Rtkn2	G	A	10: 67,815,495 (GRCm39)		probably benign	Het
Slc25a42	A	G	8: 70,639,352 (GRCm39)	S242P	probably damaging	Het
Smtnl1	T	A	2: 84,648,753 (GRCm39)	D167V	probably benign	Het
Smurf2	A	G	11: 106,724,610 (GRCm39)	L511P	probably benign	Het
Stbd1	A	T	5: 92,752,977 (GRCm39)	K156*	probably null	Het
Tenm4	G	T	7: 96,545,342 (GRCm39)	G2453*	probably null	Het
Tent4a	C	T	13: 69,648,199 (GRCm39)	G489S	probably damaging	Het
Tpr	A	G	1: 150,309,523 (GRCm39)	K1760E	probably damaging	Het
Triobp	T	A	15: 78,862,923 (GRCm39)	L1427Q	probably damaging	Het
Uaca	A	G	9: 60,777,650 (GRCm39)	E679G	probably damaging	Het
Ucn3	T	G	13: 3,991,421 (GRCm39)	H77P	possibly damaging	Het
Wnk2	T	A	13: 49,224,567 (GRCm39)	D998V	probably damaging	Het
Xrcc3	A	G	12: 111,770,969 (GRCm39)	V320A	probably damaging	Het
Zdbf2	A	G	1: 63,345,925 (GRCm39)	T1435A	possibly damaging	Het
Zfp36l2	G	T	17: 84,493,861 (GRCm39)	H259N	possibly damaging	Het
Zfp619	A	T	7: 39,187,186 (GRCm39)	H1072L	probably damaging	Het
Zfy2	T	A	Y: 2,107,127 (GRCm39)	E502D	possibly damaging	Het
Zfyve16	G	A	13: 92,658,495 (GRCm39)	P472L	probably benign	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
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'- GCCCCAGTAACCTTTTATGAGTC -3'
(R):5'- GGTTTGGTCAGTACACATGTGAC -3'

Sequencing Primer
(F):5'- TGAGTCATTAACATAGCACCTGC -3'
(R):5'- TGGTCAGTACACATGTGACAAAAAC -3'

Posted On

2019-05-13