Mutagenetix > Incidental Mutation

Incidental Mutation 'R1518:Aebp1'

167206

Institutional Source

Beutler Lab

Gene Symbol

Aebp1

Ensembl Gene

ENSMUSG00000020473

Gene Name

AE binding protein 1

Synonyms

ACLP

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1518 (G1)

Quality Score

152

Status

Not validated

Chromosome

Chromosomal Location

5811947-5822088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5821469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 623 (T623A)

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

possibly damaging
Transcript: ENSMUST00000102923
AA Change: T1003A

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099987
Gene: ENSMUSG00000020473
AA Change: T1003A

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

possibly damaging
Transcript: ENSMUST00000109829
AA Change: T623A

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105454
Gene: ENSMUSG00000020473
AA Change: T623A

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: 98.5%
10x: 96.8%
20x: 94.3%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,186,666 (GRCm39)	M493L	probably benign	Het
Abtb2	G	A	2: 103,539,629 (GRCm39)	V665I	probably benign	Het
Adamtsl1	C	G	4: 86,260,840 (GRCm39)	S1017W	probably damaging	Het
Alox5	A	G	6: 116,390,741 (GRCm39)	F470S	probably damaging	Het
Angpt2	T	C	8: 18,755,855 (GRCm39)	E204G	probably benign	Het
Apip	A	G	2: 102,919,838 (GRCm39)	E138G	probably damaging	Het
Apob	C	T	12: 8,039,207 (GRCm39)	T466M	probably benign	Het
Atp2b3	GACAACA	GACA	X: 72,588,729 (GRCm39)		probably benign	Het
Atxn7l3	A	T	11: 102,185,340 (GRCm39)	D56E	probably benign	Het
Cacna1s	C	T	1: 136,026,289 (GRCm39)	A1092V	probably damaging	Het
Calr3	A	G	8: 73,181,044 (GRCm39)	F183L	probably damaging	Het
Cd300lb	T	A	11: 114,816,877 (GRCm39)	D55V	probably benign	Het
Chid1	A	C	7: 141,108,384 (GRCm39)	V145G	probably damaging	Het
Chst15	T	C	7: 131,871,855 (GRCm39)	N142S	probably damaging	Het
Cnot4	C	T	6: 35,028,389 (GRCm39)	R409Q	probably damaging	Het
Cope	T	G	8: 70,765,411 (GRCm39)	I287S	possibly damaging	Het
Cpd	A	T	11: 76,731,212 (GRCm39)		probably null	Het
Cux1	G	T	5: 136,337,133 (GRCm39)	T785K	probably benign	Het
Dennd2b	A	G	7: 109,156,562 (GRCm39)	S63P	probably damaging	Het
Dthd1	T	C	5: 62,979,383 (GRCm39)	S348P	probably damaging	Het
Eno3	G	T	11: 70,551,903 (GRCm39)	E64*	probably null	Het
Entpd1	T	A	19: 40,713,507 (GRCm39)	Y184*	probably null	Het
Erv3	A	T	2: 131,698,083 (GRCm39)	M92K	probably benign	Het
Flg2	T	A	3: 93,110,445 (GRCm39)	H824Q	unknown	Het
Fndc9	G	A	11: 46,128,930 (GRCm39)	G150S	probably benign	Het
Gdap1	G	A	1: 17,217,169 (GRCm39)	V43I	possibly damaging	Het
Ifi213	C	A	1: 173,417,229 (GRCm39)	L394F	probably damaging	Het
Ift88	A	G	14: 57,668,085 (GRCm39)	T29A	possibly damaging	Het
Kdm4c	A	T	4: 74,252,063 (GRCm39)	I437L	probably benign	Het
Kras	T	A	6: 145,177,977 (GRCm39)	E98D	probably benign	Het
Lcorl	C	A	5: 45,891,543 (GRCm39)	R353I	possibly damaging	Het
Lrrc4c	A	G	2: 97,460,921 (GRCm39)	I516V	probably benign	Het
Lrrc51	T	C	7: 101,564,803 (GRCm39)	D85G	probably damaging	Het
Lypd6b	G	A	2: 49,837,504 (GRCm39)	A159T	probably damaging	Het
Magel2	G	A	7: 62,030,188 (GRCm39)	V1031I	unknown	Het
Man1c1	A	T	4: 134,308,100 (GRCm39)	N338K	probably benign	Het
Mdn1	C	A	4: 32,739,977 (GRCm39)	Q3744K	probably damaging	Het
Micu3	G	T	8: 40,788,893 (GRCm39)	A135S	possibly damaging	Het
Muc4	T	C	16: 32,569,167 (GRCm39)	S76P	possibly damaging	Het
Nin	T	G	12: 70,061,547 (GRCm39)	T2106P	probably benign	Het
Nlrp4e	T	C	7: 23,021,268 (GRCm39)	I585T	probably benign	Het
Npy1r	C	T	8: 67,156,847 (GRCm39)	A89V	probably benign	Het
Or11g27	T	C	14: 50,771,622 (GRCm39)	V251A	probably damaging	Het
Or4c115	G	A	2: 88,927,944 (GRCm39)	A109V	probably benign	Het
Or52ae7	T	A	7: 103,119,249 (GRCm39)	M1K	probably null	Het
Or52n3	T	A	7: 104,530,515 (GRCm39)	Y200*	probably null	Het
Or5w13	A	T	2: 87,523,872 (GRCm39)	M118K	probably damaging	Het
Parp14	T	G	16: 35,677,008 (GRCm39)	T987P	possibly damaging	Het
Pde7b	A	T	10: 20,423,867 (GRCm39)	V3E	probably damaging	Het
Pdlim7	G	T	13: 55,656,107 (GRCm39)	Y104*	probably null	Het
Pgm2l1	A	G	7: 99,910,932 (GRCm39)	K292R	probably benign	Het
Plec	T	C	15: 76,072,401 (GRCm39)	E728G	probably damaging	Het
Plppr4	T	C	3: 117,129,152 (GRCm39)	Y105C	probably damaging	Het
Polr1c	A	T	17: 46,558,821 (GRCm39)	N23K	possibly damaging	Het
Ppp5c	A	T	7: 16,743,861 (GRCm39)	M191K	probably damaging	Het
Prkca	T	C	11: 107,869,142 (GRCm39)	D57G	probably damaging	Het
Prkcb	A	G	7: 122,143,854 (GRCm39)		probably null	Het
Prl6a1	A	T	13: 27,502,911 (GRCm39)	Q169L	probably null	Het
Prl6a1	C	A	13: 27,502,910 (GRCm39)	Q169K	possibly damaging	Het
Psmd14	G	A	2: 61,591,335 (GRCm39)	R46H	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ramp2	A	G	11: 101,138,408 (GRCm39)	T22A	probably benign	Het
Rbm19	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	5: 120,278,345 (GRCm39)		probably benign	Het
Rbm25	A	T	12: 83,715,219 (GRCm39)	E463D	possibly damaging	Het
Retnlb	A	G	16: 48,637,678 (GRCm39)	I35V	probably benign	Het
Sestd1	A	G	2: 77,071,976 (GRCm39)	Y49H	probably damaging	Het
Setd2	T	A	9: 110,431,306 (GRCm39)	I2378N	probably damaging	Het
Slc26a1	A	T	5: 108,819,740 (GRCm39)	C486*	probably null	Het
Spef2	T	A	15: 9,667,316 (GRCm39)	I791F	probably damaging	Het
Sptb	T	C	12: 76,650,798 (GRCm39)	T1726A	possibly damaging	Het
Stk38l	T	A	6: 146,673,129 (GRCm39)	M296K	probably benign	Het
Taf5	T	C	19: 47,070,285 (GRCm39)	F624L	probably damaging	Het
Tmem30c	G	T	16: 57,086,855 (GRCm39)	T316K	probably damaging	Het
Trpm2	A	G	10: 77,778,839 (GRCm39)	S376P	possibly damaging	Het
Vmn2r82	A	T	10: 79,214,702 (GRCm39)	L228F	probably damaging	Het
Zfp607b	G	A	7: 27,398,087 (GRCm39)	C57Y	possibly damaging	Het
Zfp983	A	G	17: 21,881,269 (GRCm39)	H399R	probably damaging	Het
Zfp984	A	T	4: 147,840,002 (GRCm39)	M283K	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
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
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'- GAGTCTCCCCAAATAGCAAGGCAAG -3'
(R):5'- GCCTCAAGGTAATGGCTGGTGTAG -3'

Sequencing Primer
(F):5'- GACTACTGGCGCATTCTGAAC -3'
(R):5'- TAATGGCTGGTGTAGGGGAAG -3'

Posted On

2014-04-13