Mutagenetix > Incidental Mutation

Incidental Mutation 'R2567:Aebp1'

254569

Institutional Source

Beutler Lab

Gene Symbol

Aebp1

Ensembl Gene

ENSMUSG00000020473

Gene Name

AE binding protein 1

Synonyms

ACLP

MMRRC Submission

040426-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2567 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5811947-5822088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5820251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 409 (D409G)

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: D789G

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099987
Gene: ENSMUSG00000020473
AA Change: D789G

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: D409G

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105454
Gene: ENSMUSG00000020473
AA Change: D409G

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	G	3: 59,836,475 (GRCm39)		probably benign	Het
Akap10	A	G	11: 61,784,175 (GRCm39)		probably benign	Het
Akap6	G	T	12: 52,985,156 (GRCm39)	S863I	probably damaging	Het
Ap1s3	T	C	1: 79,602,921 (GRCm39)	K29E	possibly damaging	Het
Atm	T	A	9: 53,368,770 (GRCm39)	I2341L	possibly damaging	Het
Atp12a	A	T	14: 56,624,384 (GRCm39)	D944V	probably damaging	Het
Baz2b	A	T	2: 59,744,255 (GRCm39)	S1417T	possibly damaging	Het
Cacna1a	T	A	8: 85,276,354 (GRCm39)	M613K	probably damaging	Het
Ccdc191	A	C	16: 43,764,330 (GRCm39)		probably null	Het
Cd209d	T	A	8: 3,926,327 (GRCm39)	N96I	probably damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cdk4	T	G	10: 126,900,145 (GRCm39)	V14G	probably benign	Het
Chrna10	C	A	7: 101,761,276 (GRCm39)	M438I	probably benign	Het
Clec10a	T	C	11: 70,060,358 (GRCm39)		probably null	Het
Cog3	A	G	14: 75,991,730 (GRCm39)	V40A	probably benign	Het
Creb3l3	T	C	10: 80,921,883 (GRCm39)	H315R	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cubn	A	G	2: 13,283,167 (GRCm39)		probably null	Het
Cygb	T	C	11: 116,540,692 (GRCm39)	D98G	probably damaging	Het
Dmbx1	T	C	4: 115,777,489 (GRCm39)	K120E	probably damaging	Het
Dnah3	T	A	7: 119,551,920 (GRCm39)	I2800F	possibly damaging	Het
Dntt	G	T	19: 41,029,775 (GRCm39)	R245L	possibly damaging	Het
Dock1	T	G	7: 134,747,213 (GRCm39)	V1508G	probably damaging	Het
Enpp4	A	C	17: 44,412,736 (GRCm39)	I266R	probably damaging	Het
Fhl4	T	C	10: 84,934,644 (GRCm39)	I46V	possibly damaging	Het
Fn1	G	A	1: 71,636,895 (GRCm39)	Q1995*	probably null	Het
Foxl3	A	G	5: 138,805,940 (GRCm39)	S36G	probably null	Het
Foxo1	T	A	3: 52,176,755 (GRCm39)	L178H	probably damaging	Het
Galnt18	C	T	7: 111,153,823 (GRCm39)	R267H	probably damaging	Het
Gm1110	T	C	9: 26,831,992 (GRCm39)	D53G	probably benign	Het
Gm7104	A	T	12: 88,252,242 (GRCm39)		noncoding transcript	Het
H2-M11	C	T	17: 36,859,042 (GRCm39)	T194I	possibly damaging	Het
Haus6	C	A	4: 86,504,122 (GRCm39)	E501*	probably null	Het
Ifna5	T	C	4: 88,754,147 (GRCm39)	V129A	probably benign	Het
Kdelr3	A	G	15: 79,407,032 (GRCm39)	I38V	probably benign	Het
Lamb1	A	G	12: 31,319,054 (GRCm39)		probably null	Het
Larp7-ps	T	C	4: 92,079,560 (GRCm39)	E87G	probably benign	Het
Mgat4c	T	A	10: 102,214,123 (GRCm39)	F35L	probably benign	Het
Mmab	A	T	5: 114,571,378 (GRCm39)	M166K	probably benign	Het
Mrpl2	A	G	17: 46,958,427 (GRCm39)	T70A	probably benign	Het
Naa11	C	T	5: 97,539,618 (GRCm39)	G180D	probably benign	Het
Npy6r	T	C	18: 44,408,888 (GRCm39)	V103A	possibly damaging	Het
Nup188	A	T	2: 30,231,794 (GRCm39)	R1463W	possibly damaging	Het
Nusap1	T	A	2: 119,474,311 (GRCm39)	S336R	possibly damaging	Het
Or8b12c	T	A	9: 37,715,509 (GRCm39)	F101I	probably damaging	Het
Pabpc4	T	A	4: 123,191,744 (GRCm39)	L589Q	probably damaging	Het
Pcdh12	T	A	18: 38,415,149 (GRCm39)	N659Y	probably damaging	Het
Perm1	T	C	4: 156,301,575 (GRCm39)	S40P	probably damaging	Het
Phldb1	T	C	9: 44,637,322 (GRCm39)	T114A	probably damaging	Het
Pirt	C	T	11: 66,816,985 (GRCm39)	L99F	probably damaging	Het
Plxdc2	A	G	2: 16,716,995 (GRCm39)	R360G	probably benign	Het
Rhpn2	G	A	7: 35,080,957 (GRCm39)		probably null	Het
Rpusd2	T	A	2: 118,867,556 (GRCm39)	I268N	probably damaging	Het
Sds	G	T	5: 120,619,646 (GRCm39)	W185L	probably damaging	Het
Serpinb5	A	G	1: 106,802,876 (GRCm39)	K137R	probably benign	Het
Sh3pxd2a	A	G	19: 47,413,008 (GRCm39)	V25A	possibly damaging	Het
Slc1a2	C	T	2: 102,597,355 (GRCm39)	T454I	probably damaging	Het
Slc25a40	T	C	5: 8,480,459 (GRCm39)	C70R	probably damaging	Het
Smoc1	G	A	12: 81,214,364 (GRCm39)	E260K	probably damaging	Het
Sparcl1	A	T	5: 104,232,954 (GRCm39)	F616I	probably damaging	Het
Ssc5d	A	T	7: 4,939,334 (GRCm39)	D590V	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpm2	C	T	10: 77,777,008 (GRCm39)	V430M	probably damaging	Het
Ttn	T	C	2: 76,574,672 (GRCm39)	D25407G	probably damaging	Het
Vmn2r68	T	C	7: 84,883,803 (GRCm39)	I101V	probably benign	Het
Xrcc4	A	T	13: 90,210,261 (GRCm39)	M61K	probably damaging	Het
Zfp648	A	G	1: 154,080,695 (GRCm39)	T285A	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
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'- GTAGGATGTGCTCACAGACG -3'
(R):5'- AGAGCGAGGATTCCACTTGG -3'

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

Posted On

2014-12-04