Mutagenetix > Incidental Mutation

Incidental Mutation 'R5809:Aebp1'

448921

Institutional Source

Beutler Lab

Gene Symbol

Aebp1

Ensembl Gene

ENSMUSG00000020473

Gene Name

AE binding protein 1

Synonyms

ACLP

MMRRC Submission

043394-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5809 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5811947-5822088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5820257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 411 (V411A)

Ref Sequence

ENSEMBL: ENSMUSP00000105454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102922] [ENSMUST00000102923] [ENSMUST00000109829] [ENSMUST00000153995]

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: V791A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099987
Gene: ENSMUSG00000020473
AA Change: V791A

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: V411A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105454
Gene: ENSMUSG00000020473
AA Change: V411A

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: ENSMUST00000134957

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138103

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141907

Predicted Effect

probably benign
Transcript: ENSMUST00000153995

SMART Domains

Protein: ENSMUSP00000122906
Gene: ENSMUSG00000020471

Domain	Start	End	E-Value	Type
PDB:3E0J\|G	1	241	1e-142	PDB

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	G	8: 12,329,556 (GRCm39)	S4G	unknown	Het
AA623943	T	C	11: 94,703,828 (GRCm39)		noncoding transcript	Het
Abca13	T	A	11: 9,243,692 (GRCm39)	S1852T	probably damaging	Het
Ackr2	G	A	9: 121,738,540 (GRCm39)	C305Y	probably damaging	Het
Akp3	G	A	1: 87,054,270 (GRCm39)	R269H	probably benign	Het
Alox15	C	A	11: 70,241,708 (GRCm39)	G58W	probably damaging	Het
Ankle2	A	G	5: 110,385,856 (GRCm39)	N369S	probably damaging	Het
Ankrd28	T	A	14: 31,465,311 (GRCm39)	I289L	probably benign	Het
Atp13a4	T	A	16: 29,252,805 (GRCm39)	T714S	possibly damaging	Het
Birc6	A	C	17: 74,977,369 (GRCm39)	N4388T	probably damaging	Het
Blm	A	T	7: 80,114,592 (GRCm39)	L1159Q	probably damaging	Het
Caskin1	G	A	17: 24,723,521 (GRCm39)	V770I	probably benign	Het
Ccdc148	T	A	2: 58,713,657 (GRCm39)	H498L	probably damaging	Het
Cdh26	T	A	2: 178,101,919 (GRCm39)	Y179*	probably null	Het
Cela2a	T	A	4: 141,552,864 (GRCm39)	T38S	probably benign	Het
Cep350	A	T	1: 155,809,087 (GRCm39)	N496K	probably damaging	Het
Cep89	A	G	7: 35,117,151 (GRCm39)	Y251C	probably damaging	Het
Cluh	T	C	11: 74,552,526 (GRCm39)	S524P	probably damaging	Het
Cpeb4	T	C	11: 31,822,801 (GRCm39)	S172P	probably damaging	Het
Ctnnd2	T	C	15: 30,847,523 (GRCm39)	S705P	probably damaging	Het
Dock2	T	G	11: 34,212,445 (GRCm39)	D1232A	probably benign	Het
Donson	T	C	16: 91,484,738 (GRCm39)	N9S	possibly damaging	Het
Gdf9	T	C	11: 53,324,381 (GRCm39)	L50P	probably benign	Het
Gm10300	C	T	4: 131,802,458 (GRCm39)		probably benign	Het
Gm8369	A	G	19: 11,482,248 (GRCm39)		probably benign	Het
Gm8674	T	A	13: 50,055,924 (GRCm39)		noncoding transcript	Het
Hepacam	T	A	9: 37,296,101 (GRCm39)	S417R	possibly damaging	Het
Hibch	T	A	1: 52,892,859 (GRCm39)	L23Q	probably benign	Het
Hmcn1	G	A	1: 150,525,358 (GRCm39)	R3389C	probably damaging	Het
Hsp90ab1	G	T	17: 45,881,575 (GRCm39)		probably benign	Het
Hunk	C	A	16: 90,272,791 (GRCm39)	T365K	probably damaging	Het
Il12a	A	T	3: 68,602,595 (GRCm39)		probably benign	Het
Ints13	A	G	6: 146,477,847 (GRCm39)	V34A	probably benign	Het
Intu	A	C	3: 40,634,020 (GRCm39)	M418L	probably damaging	Het
Khdc4	A	G	3: 88,616,192 (GRCm39)	R460G	probably damaging	Het
Klra9	A	G	6: 130,156,036 (GRCm39)	S240P	probably damaging	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Ndrg1	A	G	15: 66,802,699 (GRCm39)		probably benign	Het
Or11g24	T	C	14: 50,662,905 (GRCm39)	*310Q	probably null	Het
Or5k17	T	C	16: 58,746,860 (GRCm39)	T25A	probably benign	Het
Pate6	C	T	9: 35,700,297 (GRCm39)	C96Y	probably damaging	Het
Pax7	A	G	4: 139,557,682 (GRCm39)	S30P	probably damaging	Het
Pdcd11	A	T	19: 47,082,247 (GRCm39)	T54S	probably benign	Het
Pex19	T	C	1: 171,958,306 (GRCm39)	V95A	probably damaging	Het
Pkhd1l1	A	G	15: 44,383,103 (GRCm39)	I1121V	probably benign	Het
Pklr	A	T	3: 89,049,091 (GRCm39)	I146F	probably benign	Het
Plcb1	T	C	2: 135,104,164 (GRCm39)	Y278H	possibly damaging	Het
Plcl1	T	A	1: 55,735,160 (GRCm39)	I167N	probably damaging	Het
Plekhh1	A	T	12: 79,125,461 (GRCm39)	I1241F	probably benign	Het
Plxnb2	G	T	15: 89,051,774 (GRCm39)	D148E	possibly damaging	Het
Pthlh	T	C	6: 147,158,745 (GRCm39)	I72V	probably damaging	Het
Ptpru	C	T	4: 131,513,067 (GRCm39)	R880Q	probably benign	Het
Rrp36	T	C	17: 46,978,932 (GRCm39)	K209E	probably damaging	Het
Scarb1	A	G	5: 125,381,286 (GRCm39)	V86A	probably damaging	Het
Sh2d7	A	C	9: 54,446,860 (GRCm39)	S37R	probably benign	Het
Slc13a2	A	T	11: 78,288,647 (GRCm39)	V543E	probably damaging	Het
Smarcal1	A	G	1: 72,630,296 (GRCm39)	T117A	probably benign	Het
Smok2a	A	G	17: 13,445,865 (GRCm39)	R481G	possibly damaging	Het
Smr2	G	A	5: 88,256,699 (GRCm39)	A126T	probably benign	Het
Sspo	G	T	6: 48,436,979 (GRCm39)	W1304C	possibly damaging	Het
Svep1	A	G	4: 58,116,524 (GRCm39)	S909P	possibly damaging	Het
Tchh	A	T	3: 93,352,880 (GRCm39)	K773N	unknown	Het
Tmem156	T	C	5: 65,232,950 (GRCm39)	N140S	possibly damaging	Het
Tmem213	T	C	6: 38,092,589 (GRCm39)	I107T	possibly damaging	Het
Tpd52l2	A	G	2: 181,153,372 (GRCm39)	Y161C	probably damaging	Het
Trappc8	C	T	18: 20,951,139 (GRCm39)	A1436T	probably benign	Het
Ubr3	A	G	2: 69,795,855 (GRCm39)	Y933C	possibly damaging	Het
Ufm1	A	T	3: 53,765,303 (GRCm39)		probably benign	Het
Wdr27	A	T	17: 15,103,931 (GRCm39)	L725Q	probably damaging	Het
Zdbf2	A	G	1: 63,345,035 (GRCm39)	D1138G	possibly damaging	Het
Zkscan16	G	A	4: 58,946,481 (GRCm39)	V119M	probably damaging	Het
Zmat5	A	G	11: 4,672,431 (GRCm39)	D16G	probably damaging	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
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
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'- TAGGATGTGCTCACAGACGG -3'
(R):5'- AGAGCGAGGATTCCACTTGG -3'

Sequencing Primer
(F):5'- TAGGTCTCCACAGAAGTCCG -3'
(R):5'- ACTTGGCCCCGTTGACAATG -3'

Posted On

2016-12-15