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

5811947-5822088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5817955 bp (GRCm39)

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: 32,384,598 (GRCm39)	T456S	probably benign	Het
Acmsd	A	T	1: 127,694,070 (GRCm39)	K333N	probably benign	Het
Adcy2	T	A	13: 68,944,658 (GRCm39)	K241N	probably damaging	Het
Albfm1	C	T	5: 90,720,578 (GRCm39)	P250S	probably damaging	Het
Ankrd35	A	G	3: 96,591,276 (GRCm39)	T521A	probably benign	Het
Arap2	C	T	5: 62,798,666 (GRCm39)		probably null	Het
Arfgap3	A	T	15: 83,227,338 (GRCm39)	C25S	probably damaging	Het
Arhgap20	T	A	9: 51,737,125 (GRCm39)		probably benign	Het
Arhgap39	C	T	15: 76,619,086 (GRCm39)	D833N	probably damaging	Het
Auts2	T	C	5: 131,469,307 (GRCm39)	E446G	possibly damaging	Het
Brwd1	C	T	16: 95,837,174 (GRCm39)	R886H	probably damaging	Het
Carm1	G	A	9: 21,491,787 (GRCm39)		probably null	Het
Cdc5l	G	A	17: 45,726,610 (GRCm39)	R321W	probably damaging	Het
Cfap54	A	T	10: 92,860,984 (GRCm39)	M841K	probably benign	Het
Clca4b	T	A	3: 144,634,387 (GRCm39)	T69S	probably damaging	Het
Cpox	A	G	16: 58,495,753 (GRCm39)	I357V	probably benign	Het
Diaph3	C	A	14: 87,147,536 (GRCm39)	V711L	probably benign	Het
Fabp3-ps1	T	C	10: 86,567,904 (GRCm39)		probably benign	Het
Fam120b	A	T	17: 15,651,905 (GRCm39)		probably benign	Het
Fcho1	A	G	8: 72,164,818 (GRCm39)	S488P	probably benign	Het
Flcn	A	G	11: 59,686,574 (GRCm39)		probably null	Het
Flt3l	A	G	7: 44,781,690 (GRCm39)	W234R	probably damaging	Het
Fzd7	G	T	1: 59,522,443 (GRCm39)	V109L	probably damaging	Het
G3bp1	A	G	11: 55,379,969 (GRCm39)	N101S	probably benign	Het
Gadd45g	A	G	13: 52,001,963 (GRCm39)	E143G	probably damaging	Het
Ganab	T	G	19: 8,884,644 (GRCm39)	I149S	probably benign	Het
Garnl3	A	G	2: 32,906,750 (GRCm39)	S413P	probably damaging	Het
Glis1	C	T	4: 107,425,316 (GRCm39)		probably null	Het
Gm11563	A	G	11: 99,549,539 (GRCm39)	S72P	unknown	Het
Gpd1	T	G	15: 99,618,510 (GRCm39)	I188S	possibly damaging	Het
Gria2	A	G	3: 80,639,333 (GRCm39)		probably benign	Het
Hpcal4	G	T	4: 123,082,848 (GRCm39)	A65S	possibly damaging	Het
Igsf10	G	A	3: 59,236,089 (GRCm39)	T1364I	probably benign	Het
Kdm4a	T	C	4: 117,995,428 (GRCm39)	*1065W	probably null	Het
Klkb1	A	G	8: 45,731,003 (GRCm39)		probably null	Het
Lipo3	T	C	19: 33,557,951 (GRCm39)	D147G	probably damaging	Het
Lrp1	A	G	10: 127,407,827 (GRCm39)	S1821P	probably benign	Het
Macroh2a2	A	G	10: 61,576,945 (GRCm39)	S308P	probably damaging	Het
Manba	T	C	3: 135,223,734 (GRCm39)	I207T	probably damaging	Het
Mark3	T	A	12: 111,600,068 (GRCm39)	S428T	probably benign	Het
Mfsd4a	G	A	1: 131,969,657 (GRCm39)	T348I	probably damaging	Het
Mybbp1a	A	G	11: 72,339,202 (GRCm39)	M880V	probably benign	Het
N4bp2	T	A	5: 65,977,684 (GRCm39)		probably null	Het
Nrdc	T	G	4: 108,904,905 (GRCm39)	I712S	probably damaging	Het
Nup210	G	A	6: 90,998,466 (GRCm39)	R774C	possibly damaging	Het
Obscn	G	A	11: 58,998,688 (GRCm39)	R1395*	probably null	Het
Or5b102	T	A	19: 13,041,658 (GRCm39)	D294E	probably benign	Het
Pcdh7	T	C	5: 57,879,336 (GRCm39)	Y964H	probably damaging	Het
Pgap6	C	A	17: 26,339,576 (GRCm39)	Q605K	probably damaging	Het
Plin4	T	C	17: 56,413,756 (GRCm39)	T290A	probably benign	Het
Ppara	T	C	15: 85,671,306 (GRCm39)		probably benign	Het
Psg21	T	G	7: 18,386,565 (GRCm39)		probably null	Het
Ptar1	C	A	19: 23,697,704 (GRCm39)	N405K	probably benign	Het
Ralgps2	A	G	1: 156,660,233 (GRCm39)		probably null	Het
Rnf6	T	A	5: 146,148,205 (GRCm39)	N271I	possibly damaging	Het
Sis	T	C	3: 72,832,740 (GRCm39)	D1019G	possibly damaging	Het
Slc37a3	A	G	6: 39,329,688 (GRCm39)		probably benign	Het
Slc49a3	A	G	5: 108,592,331 (GRCm39)		probably benign	Het
Slc6a12	G	A	6: 121,333,877 (GRCm39)	V238I	probably damaging	Het
Sntg1	C	A	1: 8,624,960 (GRCm39)	V279L	possibly damaging	Het
Sorbs1	T	A	19: 40,300,260 (GRCm39)	E567D	probably damaging	Het
Sp110	C	A	1: 85,516,821 (GRCm39)		probably benign	Het
Ssu2	A	G	6: 112,357,515 (GRCm39)	V175A	possibly damaging	Het
Stk36	G	A	1: 74,655,780 (GRCm39)	E428K	probably benign	Het
Teddm1b	A	T	1: 153,751,090 (GRCm39)	I300F	possibly damaging	Het
Thy1	T	C	9: 43,958,645 (GRCm39)	V129A	probably damaging	Het
Tiam2	T	A	17: 3,479,229 (GRCm39)	M654K	probably damaging	Het
Tmem69	T	C	4: 116,410,470 (GRCm39)	S167G	probably benign	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Tspan10	A	G	11: 120,335,244 (GRCm39)	D118G	probably damaging	Het
Tspo2	A	G	17: 48,755,841 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,738,672 (GRCm39)	Q4002*	probably null	Het
Tyro3	G	A	2: 119,647,385 (GRCm39)	R834Q	probably damaging	Het
Ugt2b1	T	C	5: 87,073,943 (GRCm39)	K139E	probably benign	Het
Vmn1r9	A	T	6: 57,048,524 (GRCm39)	I200F	probably benign	Het

Other mutations in Aebp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00578:Aebp1	APN	11	5,821,787 (GRCm39)	missense	possibly damaging	0.67
IGL01464:Aebp1	APN	11	5,819,822 (GRCm39)	missense	possibly damaging	0.46
IGL01561:Aebp1	APN	11	5,821,349 (GRCm39)	missense	probably damaging	1.00
IGL01648:Aebp1	APN	11	5,820,607 (GRCm39)	missense	possibly damaging	0.96
IGL01950:Aebp1	APN	11	5,819,108 (GRCm39)	missense	probably benign	0.02
IGL02094:Aebp1	APN	11	5,818,357 (GRCm39)	missense	probably benign	0.17
IGL02585:Aebp1	APN	11	5,820,855 (GRCm39)	splice site	probably null
R0006:Aebp1	UTSW	11	5,813,935 (GRCm39)	unclassified	probably benign
R1144:Aebp1	UTSW	11	5,818,475 (GRCm39)	missense	probably benign	0.17
R1265:Aebp1	UTSW	11	5,821,740 (GRCm39)	missense	probably damaging	0.98
R1297:Aebp1	UTSW	11	5,820,834 (GRCm39)	missense	possibly damaging	0.69
R1518:Aebp1	UTSW	11	5,821,469 (GRCm39)	missense	possibly damaging	0.58
R1524:Aebp1	UTSW	11	5,820,089 (GRCm39)	missense	probably damaging	0.98
R2567:Aebp1	UTSW	11	5,820,251 (GRCm39)	missense	probably benign	0.29
R3155:Aebp1	UTSW	11	5,821,425 (GRCm39)	missense	probably benign	0.16
R4415:Aebp1	UTSW	11	5,815,451 (GRCm39)	missense	probably damaging	0.96
R4507:Aebp1	UTSW	11	5,820,565 (GRCm39)	missense	probably damaging	1.00
R5248:Aebp1	UTSW	11	5,818,501 (GRCm39)	missense	possibly damaging	0.63
R5597:Aebp1	UTSW	11	5,816,487 (GRCm39)	missense	probably benign	0.01
R5809:Aebp1	UTSW	11	5,820,257 (GRCm39)	missense	probably benign
R5919:Aebp1	UTSW	11	5,821,421 (GRCm39)	missense	probably benign	0.00
R5982:Aebp1	UTSW	11	5,817,911 (GRCm39)	missense	possibly damaging	0.69
R6139:Aebp1	UTSW	11	5,821,842 (GRCm39)	missense	probably damaging	1.00
R7067:Aebp1	UTSW	11	5,816,431 (GRCm39)	critical splice acceptor site	probably null
R7289:Aebp1	UTSW	11	5,815,059 (GRCm39)	missense	probably damaging	1.00
R7383:Aebp1	UTSW	11	5,818,548 (GRCm39)	missense	probably damaging	1.00
R7437:Aebp1	UTSW	11	5,819,757 (GRCm39)	missense	possibly damaging	0.50
R8681:Aebp1	UTSW	11	5,817,899 (GRCm39)	missense	probably null	1.00
R9292:Aebp1	UTSW	11	5,815,260 (GRCm39)	missense	possibly damaging	0.90
R9429:Aebp1	UTSW	11	5,821,649 (GRCm39)	missense	probably benign	0.01
R9740:Aebp1	UTSW	11	5,821,721 (GRCm39)	missense	probably benign	0.32
Z1088:Aebp1	UTSW	11	5,821,460 (GRCm39)	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