Mutagenetix > Incidental Mutation

Incidental Mutation 'R0551:Aebp1'

45181

Institutional Source

Beutler Lab

Gene Symbol

Aebp1

Ensembl Gene

ENSMUSG00000020473

Gene Name

AE binding protein 1

Synonyms

ACLP

MMRRC Submission

038743-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0551 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5861947-5872088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5867955 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 77 (I77V)

Ref Sequence

ENSEMBL: ENSMUSP00000105454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102922] [ENSMUST00000102923] [ENSMUST00000109829]

AlphaFold

Q640N1

Predicted Effect

probably benign
Transcript: ENSMUST00000102922

SMART Domains

Protein: ENSMUSP00000099986
Gene: ENSMUSG00000020471

Domain	Start	End	E-Value	Type
Pfam:DNA_pol_E_B	196	412	1e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102923
AA Change: I457V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000099987
Gene: ENSMUSG00000020473
AA Change: I457V

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	33	46	N/A	INTRINSIC
low complexity region	85	102	N/A	INTRINSIC
low complexity region	113	159	N/A	INTRINSIC
low complexity region	217	229	N/A	INTRINSIC
low complexity region	264	290	N/A	INTRINSIC
low complexity region	324	341	N/A	INTRINSIC
FA58C	375	531	8.72e-46	SMART
Zn_pept	555	983	5.56e-43	SMART
low complexity region	1005	1029	N/A	INTRINSIC
low complexity region	1035	1052	N/A	INTRINSIC
low complexity region	1069	1089	N/A	INTRINSIC
low complexity region	1092	1106	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109829
AA Change: I77V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000105454
Gene: ENSMUSG00000020473
AA Change: I77V

Domain	Start	End	E-Value	Type
FA58C	1	151	2.04e-37	SMART
Zn_pept	175	603	5.56e-43	SMART
low complexity region	625	649	N/A	INTRINSIC
low complexity region	655	672	N/A	INTRINSIC
low complexity region	689	709	N/A	INTRINSIC
low complexity region	712	726	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138103

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141907

Meta Mutation Damage Score

0.0630

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.1%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipogenesis and smooth muscle cell differentiation. Studies in mice suggest that this gene functions in wound healing and abdominal wall development. Overexpression of this gene is associated with glioblastoma. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for one null allele exhibit neonatal lethality, abdominal wall herniation, extrusion of the abdominal organs, and defects in wound healing. Mice homozygous for another null allele exhibit embryonic lethality, decreased white adipose tissue, and resistance to diet-induced obesity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,662,641	T456S	probably benign	Het
5830473C10Rik	C	T	5: 90,572,719	P250S	probably damaging	Het
Acmsd	A	T	1: 127,766,333	K333N	probably benign	Het
Adcy2	T	A	13: 68,796,539	K241N	probably damaging	Het
Ankrd35	A	G	3: 96,683,960	T521A	probably benign	Het
Arap2	C	T	5: 62,641,323		probably null	Het
Arfgap3	A	T	15: 83,343,137	C25S	probably damaging	Het
Arhgap20	T	A	9: 51,825,825		probably benign	Het
Arhgap39	C	T	15: 76,734,886	D833N	probably damaging	Het
Auts2	T	C	5: 131,440,469	E446G	possibly damaging	Het
Brwd1	C	T	16: 96,035,974	R886H	probably damaging	Het
Carm1	G	A	9: 21,580,491		probably null	Het
Cdc5l	G	A	17: 45,415,684	R321W	probably damaging	Het
Cfap54	A	T	10: 93,025,122	M841K	probably benign	Het
Clca4b	T	A	3: 144,928,626	T69S	probably damaging	Het
Cpox	A	G	16: 58,675,390	I357V	probably benign	Het
Diaph3	C	A	14: 86,910,100	V711L	probably benign	Het
Fabp3-ps1	T	C	10: 86,732,040		probably benign	Het
Fam120b	A	T	17: 15,431,643		probably benign	Het
Fcho1	A	G	8: 71,712,174	S488P	probably benign	Het
Flcn	A	G	11: 59,795,748		probably null	Het
Flt3l	A	G	7: 45,132,266	W234R	probably damaging	Het
Fzd7	G	T	1: 59,483,284	V109L	probably damaging	Het
G3bp1	A	G	11: 55,489,143	N101S	probably benign	Het
Gadd45g	A	G	13: 51,847,927	E143G	probably damaging	Het
Ganab	T	G	19: 8,907,280	I149S	probably benign	Het
Garnl3	A	G	2: 33,016,738	S413P	probably damaging	Het
Glis1	C	T	4: 107,568,119		probably null	Het
Gm11563	A	G	11: 99,658,713	S72P	unknown	Het
Gpd1	T	G	15: 99,720,629	I188S	possibly damaging	Het
Gria2	A	G	3: 80,732,026		probably benign	Het
H2afy2	A	G	10: 61,741,166	S308P	probably damaging	Het
Hpcal4	G	T	4: 123,189,055	A65S	possibly damaging	Het
Igsf10	G	A	3: 59,328,668	T1364I	probably benign	Het
Kdm4a	T	C	4: 118,138,231	*1065W	probably null	Het
Klkb1	A	G	8: 45,277,966		probably null	Het
Lipo3	T	C	19: 33,580,551	D147G	probably damaging	Het
Lrp1	A	G	10: 127,571,958	S1821P	probably benign	Het
Manba	T	C	3: 135,517,973	I207T	probably damaging	Het
Mark3	T	A	12: 111,633,634	S428T	probably benign	Het
Mfsd4a	G	A	1: 132,041,919	T348I	probably damaging	Het
Mfsd7a	A	G	5: 108,444,465		probably benign	Het
Mybbp1a	A	G	11: 72,448,376	M880V	probably benign	Het
N4bp2	T	A	5: 65,820,341		probably null	Het
Nrd1	T	G	4: 109,047,708	I712S	probably damaging	Het
Nup210	G	A	6: 91,021,484	R774C	possibly damaging	Het
Obscn	G	A	11: 59,107,862	R1395*	probably null	Het
Olfr1454	T	A	19: 13,064,294	D294E	probably benign	Het
Pcdh7	T	C	5: 57,721,994	Y964H	probably damaging	Het
Plin4	T	C	17: 56,106,756	T290A	probably benign	Het
Ppara	T	C	15: 85,787,105		probably benign	Het
Psg21	T	G	7: 18,652,640		probably null	Het
Ptar1	C	A	19: 23,720,340	N405K	probably benign	Het
Ralgps2	A	G	1: 156,832,663		probably null	Het
Rnf6	T	A	5: 146,211,395	N271I	possibly damaging	Het
Sis	T	C	3: 72,925,407	D1019G	possibly damaging	Het
Slc37a3	A	G	6: 39,352,754		probably benign	Het
Slc6a12	G	A	6: 121,356,918	V238I	probably damaging	Het
Sntg1	C	A	1: 8,554,736	V279L	possibly damaging	Het
Sorbs1	T	A	19: 40,311,816	E567D	probably damaging	Het
Sp110	C	A	1: 85,589,100		probably benign	Het
Ssu2	A	G	6: 112,380,554	V175A	possibly damaging	Het
Stk36	G	A	1: 74,616,621	E428K	probably benign	Het
Teddm1b	A	T	1: 153,875,344	I300F	possibly damaging	Het
Thy1	T	C	9: 44,047,348	V129A	probably damaging	Het
Tiam2	T	A	17: 3,428,954	M654K	probably damaging	Het
Tmem69	T	C	4: 116,553,273	S167G	probably benign	Het
Tmem8	C	A	17: 26,120,602	Q605K	probably damaging	Het
Tmem81	C	G	1: 132,507,829	I124M	probably damaging	Het
Tspan10	A	G	11: 120,444,418	D118G	probably damaging	Het
Tspo2	A	G	17: 48,448,813		probably benign	Het
Ttn	G	A	2: 76,908,328	Q4002*	probably null	Het
Tyro3	G	A	2: 119,816,904	R834Q	probably damaging	Het
Ugt2b1	T	C	5: 86,926,084	K139E	probably benign	Het
Vmn1r9	A	T	6: 57,071,539	I200F	probably benign	Het

Other mutations in Aebp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00578:Aebp1	APN	11	5871787	missense	possibly damaging	0.67
IGL01464:Aebp1	APN	11	5869822	missense	possibly damaging	0.46
IGL01561:Aebp1	APN	11	5871349	missense	probably damaging	1.00
IGL01648:Aebp1	APN	11	5870607	missense	possibly damaging	0.96
IGL01950:Aebp1	APN	11	5869108	missense	probably benign	0.02
IGL02094:Aebp1	APN	11	5868357	missense	probably benign	0.17
IGL02585:Aebp1	APN	11	5870855	splice site	probably null
R0006:Aebp1	UTSW	11	5863935	unclassified	probably benign
R1144:Aebp1	UTSW	11	5868475	missense	probably benign	0.17
R1265:Aebp1	UTSW	11	5871740	missense	probably damaging	0.98
R1297:Aebp1	UTSW	11	5870834	missense	possibly damaging	0.69
R1518:Aebp1	UTSW	11	5871469	missense	possibly damaging	0.58
R1524:Aebp1	UTSW	11	5870089	missense	probably damaging	0.98
R2567:Aebp1	UTSW	11	5870251	missense	probably benign	0.29
R3155:Aebp1	UTSW	11	5871425	missense	probably benign	0.16
R4415:Aebp1	UTSW	11	5865451	missense	probably damaging	0.96
R4507:Aebp1	UTSW	11	5870565	missense	probably damaging	1.00
R5248:Aebp1	UTSW	11	5868501	missense	possibly damaging	0.63
R5597:Aebp1	UTSW	11	5866487	missense	probably benign	0.01
R5809:Aebp1	UTSW	11	5870257	missense	probably benign
R5919:Aebp1	UTSW	11	5871421	missense	probably benign	0.00
R5982:Aebp1	UTSW	11	5867911	missense	possibly damaging	0.69
R6139:Aebp1	UTSW	11	5871842	missense	probably damaging	1.00
R7067:Aebp1	UTSW	11	5866431	critical splice acceptor site	probably null
R7289:Aebp1	UTSW	11	5865059	missense	probably damaging	1.00
R7383:Aebp1	UTSW	11	5868548	missense	probably damaging	1.00
R7437:Aebp1	UTSW	11	5869757	missense	possibly damaging	0.50
R8681:Aebp1	UTSW	11	5867899	missense	probably null	1.00
R9292:Aebp1	UTSW	11	5865260	missense	possibly damaging	0.90
R9429:Aebp1	UTSW	11	5871649	missense	probably benign	0.01
R9740:Aebp1	UTSW	11	5871721	missense	probably benign	0.32
Z1088:Aebp1	UTSW	11	5871460	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATTGAGGACAACCAGATCCGTGCC -3'
(R):5'- AAAGCCTGTCTGCCCATCTGAAC -3'

Sequencing Primer
(F):5'- CTCAACATGCAGGTGGGTG -3'
(R):5'- TGCCCATCTGAACATGTGGAG -3'

Posted On

2013-06-11