Mutagenetix > Incidental Mutation

Incidental Mutation 'R1144:Aebp1'

102300

Institutional Source

Beutler Lab

Gene Symbol

Aebp1

Ensembl Gene

ENSMUSG00000020473

Gene Name

AE binding protein 1

Synonyms

ACLP

MMRRC Submission

039217-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1144 (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 5818475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 107 (T107A)

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: T487A

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099987
Gene: ENSMUSG00000020473
AA Change: T487A

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: T107A

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000105454
Gene: ENSMUSG00000020473
AA Change: T107A

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

0.1005

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.2%

Validation Efficiency

100% (64/64)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	T	7: 119,960,083 (GRCm39)		probably benign	Het
Abcc5	A	T	16: 20,241,188 (GRCm39)		probably benign	Het
Acsl5	A	C	19: 55,280,275 (GRCm39)	D516A	probably damaging	Het
Adcy1	G	A	11: 7,087,400 (GRCm39)	A425T	probably damaging	Het
Arhgef33	T	C	17: 80,662,473 (GRCm39)	S219P	probably benign	Het
Atm	T	G	9: 53,422,998 (GRCm39)		probably benign	Het
C1ql2	A	C	1: 120,270,266 (GRCm39)	Y276S	probably damaging	Het
Cacna2d1	T	C	5: 16,527,595 (GRCm39)		probably null	Het
Cmbl	A	G	15: 31,582,020 (GRCm39)	N6D	probably benign	Het
Cntn3	A	G	6: 102,219,087 (GRCm39)	V511A	possibly damaging	Het
Coq9	C	A	8: 95,569,251 (GRCm39)	R28S	probably benign	Het
Creld1	T	C	6: 113,460,922 (GRCm39)	F20S	probably benign	Het
Dcstamp	A	G	15: 39,623,764 (GRCm39)	K404E	possibly damaging	Het
Dip2b	T	A	15: 100,052,131 (GRCm39)	I244K	probably benign	Het
Dnhd1	G	A	7: 105,362,238 (GRCm39)	E3700K	probably damaging	Het
Dnmt3l	T	A	10: 77,887,739 (GRCm39)	C110S	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fgfr1	T	G	8: 26,048,159 (GRCm39)	V172G	probably damaging	Het
Frem3	C	A	8: 81,338,513 (GRCm39)	Q269K	probably benign	Het
Frmd6	C	A	12: 70,923,942 (GRCm39)	H67N	probably damaging	Het
Fry	A	G	5: 150,341,929 (GRCm39)	T1532A	possibly damaging	Het
Git2	G	T	5: 114,891,375 (GRCm39)	S243R	probably benign	Het
Grid1	A	G	14: 35,284,633 (GRCm39)		probably benign	Het
Grp	A	G	18: 66,013,041 (GRCm39)	D69G	probably damaging	Het
Hmbox1	A	T	14: 65,063,132 (GRCm39)	L347Q	probably damaging	Het
Hsh2d	C	T	8: 72,947,436 (GRCm39)		probably benign	Het
Itpr3	G	A	17: 27,333,897 (GRCm39)	S2018N	probably benign	Het
Kif13b	T	A	14: 64,951,566 (GRCm39)	V69D	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lmcd1	T	A	6: 112,287,712 (GRCm39)		probably benign	Het
Megf9	C	A	4: 70,452,861 (GRCm39)	A67S	probably benign	Het
Myo5b	G	A	18: 74,758,658 (GRCm39)	R213H	probably damaging	Het
Myo5c	T	A	9: 75,193,730 (GRCm39)	Y1162N	probably damaging	Het
Nphs1	A	G	7: 30,181,103 (GRCm39)		probably benign	Het
Ntrk1	G	A	3: 87,688,849 (GRCm39)	T568I	probably damaging	Het
Pcmtd1	A	G	1: 7,190,705 (GRCm39)	H58R	probably damaging	Het
Plaat5	A	G	19: 7,590,695 (GRCm39)	D74G	probably benign	Het
Plxna4	A	T	6: 32,174,091 (GRCm39)	I1168N	possibly damaging	Het
Ppm1h	A	G	10: 122,777,183 (GRCm39)	D483G	probably benign	Het
Prdm15	G	A	16: 97,609,908 (GRCm39)	R579C	probably damaging	Het
Prickle1	T	A	15: 93,410,342 (GRCm39)	R41W	probably damaging	Het
Rbm19	A	G	5: 120,261,081 (GRCm39)	D235G	possibly damaging	Het
Smco2	A	G	6: 146,772,638 (GRCm39)		probably benign	Het
Sned1	G	C	1: 93,208,298 (GRCm39)	G785R	probably damaging	Het
Stat4	A	G	1: 52,123,288 (GRCm39)		probably benign	Het
Syne2	T	A	12: 76,013,298 (GRCm39)	F2830I	probably benign	Het
Tbc1d9	A	G	8: 83,963,200 (GRCm39)	D304G	possibly damaging	Het
Thsd7a	G	A	6: 12,471,026 (GRCm39)		probably benign	Het
Tmem63b	T	A	17: 45,977,353 (GRCm39)	K383N	probably benign	Het
Trp53rka	C	A	2: 165,334,961 (GRCm39)		probably benign	Het
Trub1	G	A	19: 57,473,563 (GRCm39)	V207M	probably benign	Het
Ulk2	A	T	11: 61,690,886 (GRCm39)	C551S	possibly damaging	Het
Urb1	A	T	16: 90,573,206 (GRCm39)		probably null	Het
Vmn1r219	C	A	13: 23,347,383 (GRCm39)	Q191K	probably damaging	Het
Vmn2r1	A	T	3: 63,997,541 (GRCm39)	D399V	probably damaging	Het
Vmn2r87	A	G	10: 130,312,098 (GRCm39)		probably benign	Het
Wars1	A	T	12: 108,854,291 (GRCm39)	L41*	probably null	Het
Washc2	G	A	6: 116,201,495 (GRCm39)	E64K	probably damaging	Het
Washc4	G	A	10: 83,416,194 (GRCm39)	R828Q	probably damaging	Het
Wdr59	A	T	8: 112,213,576 (GRCm39)	M313K	probably benign	Het
Wscd2	G	A	5: 113,699,151 (GRCm39)		probably null	Het
Zdhhc20	A	C	14: 58,094,135 (GRCm39)	L176V	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
R0551:Aebp1	UTSW	11	5,817,955 (GRCm39)	missense	probably benign	0.04
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

Posted On

2014-01-15