Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02094:Aebp1'

279546

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aebp1

Ensembl Gene

ENSMUSG00000020473

Gene Name

AE binding protein 1

Synonyms

ACLP

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02094

Quality Score

Status

Chromosome

Chromosomal Location

5861947-5872088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 5868357 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 98 (M98I)

Ref Sequence

ENSEMBL: ENSMUSP00000105454 (fasta)

Gene Model

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

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: M478I

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099987
Gene: ENSMUSG00000020473
AA Change: M478I

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: M98I

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000105454
Gene: ENSMUSG00000020473
AA Change: M98I

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

Coding Region Coverage

Validation Efficiency

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	T	C	8: 55,871,445	N658S	possibly damaging	Het
Adcy10	T	C	1: 165,570,620	Y1429H	probably damaging	Het
Arl3	T	C	19: 46,558,341	D15G	probably benign	Het
Casp2	T	A	6: 42,280,359	I414N	probably damaging	Het
Ceacam1	T	C	7: 25,474,543	D229G	probably damaging	Het
Cog7	G	T	7: 121,963,247	A234E	probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cyp3a59	A	T	5: 146,104,821	T392S	probably benign	Het
Ebf2	G	A	14: 67,235,240	V36M	possibly damaging	Het
Fbxw15	A	C	9: 109,558,240	V229G	possibly damaging	Het
Got1l1	A	G	8: 27,199,845	V171A	probably benign	Het
Itgax	A	G	7: 128,131,473	Y121C	probably damaging	Het
Kcng4	C	A	8: 119,633,221	A139S	probably damaging	Het
Kcnj9	G	T	1: 172,325,708	T283K	probably damaging	Het
Mgl2	T	A	11: 70,137,097	I377K	possibly damaging	Het
Myo15	T	C	11: 60,510,647		probably benign	Het
Nod1	A	T	6: 54,939,390		probably null	Het
Nr1h5	A	T	3: 102,952,196	C182*	probably null	Het
Nup210l	G	T	3: 90,180,213		probably null	Het
Ptbp2	G	A	3: 119,752,940		probably benign	Het
Ptpn13	T	G	5: 103,594,617	F2401V	probably damaging	Het
Rbbp6	T	C	7: 122,997,262	S676P	probably damaging	Het
Recql4	T	A	15: 76,709,517	Q131L	probably benign	Het
Sbno2	G	A	10: 80,057,645	P1274L	probably benign	Het
Sec24c	T	C	14: 20,688,402	V341A	probably damaging	Het
Smc1b	A	T	15: 85,097,891		probably benign	Het
Sptbn1	T	C	11: 30,100,659	H2310R	probably benign	Het
Tas2r109	T	A	6: 132,980,239	I243F	possibly damaging	Het
Trpc1	A	C	9: 95,743,281	D97E	probably damaging	Het
Trpm2	G	A	10: 77,942,996	Q379*	probably null	Het
Ttn	A	G	2: 76,818,823		probably benign	Het
Vmn2r74	A	T	7: 85,961,461	F8I	probably benign	Het
Zfp36	C	T	7: 28,377,763	S240N	probably benign	Het
Zfp65	A	G	13: 67,708,185	I325T	possibly damaging	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
IGL02585:Aebp1	APN	11	5870855	splice site	probably null
R0006:Aebp1	UTSW	11	5863935	unclassified	probably benign
R0551:Aebp1	UTSW	11	5867955	missense	probably benign	0.04
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
Z1088:Aebp1	UTSW	11	5871460	nonsense	probably null

Posted On

2015-04-16