Mutagenetix > Incidental Mutation

Incidental Mutation 'R1524:Aebp1'

167728

Institutional Source

Beutler Lab

Gene Symbol

Aebp1

Ensembl Gene

ENSMUSG00000020473

Gene Name

AE binding protein 1

Synonyms

ACLP

MMRRC Submission

039565-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1524 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5861947-5872088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5870089 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 355 (V355A)

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 damaging
Transcript: ENSMUST00000102923
AA Change: V735A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099987
Gene: ENSMUSG00000020473
AA Change: V735A

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 damaging
Transcript: ENSMUST00000109829
AA Change: V355A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105454
Gene: ENSMUSG00000020473
AA Change: V355A

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: 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

0.7072

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

97% (68/70)

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
2310003L06Rik	G	T	5: 87,971,689	V102L	probably benign	Het
Adck1	T	C	12: 88,402,084	Y111H	probably damaging	Het
Adcy10	G	T	1: 165,518,403	K340N	probably damaging	Het
Atp2b2	T	C	6: 113,774,201		probably benign	Het
Atrn	T	C	2: 130,957,080	V390A	probably benign	Het
Bpifc	T	A	10: 85,977,735	Q315L	probably benign	Het
C1qtnf6	T	G	15: 78,524,892		probably null	Het
Cab39l	A	G	14: 59,519,737		probably benign	Het
Capn12	T	A	7: 28,882,764		probably benign	Het
Ceacam18	A	C	7: 43,639,355	T177P	possibly damaging	Het
Ces5a	A	T	8: 93,525,665	F200I	probably damaging	Het
Cldn19	G	T	4: 119,257,051		probably null	Het
Cntnap2	A	G	6: 46,530,679	S46P	probably damaging	Het
Dchs1	A	G	7: 105,764,525	Y1028H	probably damaging	Het
Exd1	A	T	2: 119,524,674	F253L	probably damaging	Het
Fam161a	A	G	11: 23,015,826	N40D	possibly damaging	Het
Fam81a	A	T	9: 70,125,108	I34N	probably damaging	Het
Fchsd1	A	C	18: 37,965,897		probably null	Het
Fut11	T	A	14: 20,696,166	F359I	possibly damaging	Het
Fut7	T	C	2: 25,425,147	V92A	probably damaging	Het
Grid2	C	G	6: 64,429,754	F699L	possibly damaging	Het
Grin2a	A	G	16: 9,663,603	S445P	possibly damaging	Het
H2al2b	A	C	Y: 2,720,391	F95C	probably damaging	Het
Hecw2	T	C	1: 53,851,618	D1246G	probably damaging	Het
Ifit1	A	G	19: 34,647,632	N56S	probably damaging	Het
Ldb3	C	A	14: 34,555,356	V354L	probably benign	Het
Lrig2	T	C	3: 104,463,876	Y479C	probably benign	Het
Ltn1	A	G	16: 87,381,556	V1595A	probably damaging	Het
Macf1	A	G	4: 123,432,530	V2939A	possibly damaging	Het
Mapre3	T	G	5: 30,861,917	I35S	probably damaging	Het
Med16	A	T	10: 79,898,316	L588Q	probably damaging	Het
Ncapg2	T	C	12: 116,434,578		probably benign	Het
Ncstn	C	A	1: 172,072,149	R322L	possibly damaging	Het
Ndst1	A	T	18: 60,698,504	I594N	probably damaging	Het
Ndst3	A	G	3: 123,548,906	I752T	possibly damaging	Het
Obscn	G	T	11: 59,115,855	S1185R	probably damaging	Het
Olfr1466	T	A	19: 13,342,122	C121*	probably null	Het
Olfr1500	A	T	19: 13,828,315	L27H	probably damaging	Het
Olfr303	A	G	7: 86,394,812	S229P	probably benign	Het
Otof	T	A	5: 30,379,556	D1285V	probably benign	Het
Pcnx2	A	G	8: 125,891,141	I125T	probably benign	Het
Pde4a	T	C	9: 21,201,247	S240P	probably damaging	Het
Pi15	T	C	1: 17,619,852	S126P	probably benign	Het
Pkhd1	T	C	1: 20,117,780	S3435G	probably damaging	Het
Plin1	C	A	7: 79,726,590	V133L	probably benign	Het
Pnpt1	T	A	11: 29,130,776	C7S	unknown	Het
Ppp3ca	A	T	3: 136,797,818	M51L	probably benign	Het
Primpol	G	T	8: 46,586,467		probably benign	Het
Prlr	T	C	15: 10,319,333	V116A	probably damaging	Het
Rnf139	A	G	15: 58,889,417	D35G	probably damaging	Het
Rsbn1l	T	A	5: 20,951,673	K38M	probably damaging	Het
Ryr3	T	A	2: 112,869,082	I888F	probably damaging	Het
Sec16a	C	A	2: 26,428,382	V1566F	probably damaging	Het
Sin3b	A	G	8: 72,753,287	T874A	probably benign	Het
Slc5a5	A	C	8: 70,892,334	Y110D	probably damaging	Het
Smarcd2	C	T	11: 106,267,152	V97I	probably benign	Het
St6galnac2	G	A	11: 116,684,487		probably benign	Het
Tbc1d22b	T	C	17: 29,570,611	L149P	probably damaging	Het
Tekt2	T	C	4: 126,323,649	I208V	probably benign	Het
Tenm3	A	G	8: 48,228,981	I2522T	possibly damaging	Het
Ttc37	T	A	13: 76,138,372	D891E	probably benign	Het
Ttll5	T	A	12: 85,864,568	Y233*	probably null	Het
Vcpip1	C	T	1: 9,724,502	E1215K	probably damaging	Het
Wdr4	T	C	17: 31,509,763		probably benign	Het
Zadh2	A	G	18: 84,094,706	E169G	probably benign	Het
Zfp703	G	A	8: 26,979,373	G355D	probably damaging	Het
Zfp830	T	A	11: 82,764,968	D199E	probably damaging	Het

Other mutations in Aebp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00578:Aebp1	APN	11	5871787	missense	possibly damaging	0.67
IGL01464:Aebp1	APN	11	5869822	missense	possibly damaging	0.46
IGL01561:Aebp1	APN	11	5871349	missense	probably damaging	1.00
IGL01648:Aebp1	APN	11	5870607	missense	possibly damaging	0.96
IGL01950:Aebp1	APN	11	5869108	missense	probably benign	0.02
IGL02094:Aebp1	APN	11	5868357	missense	probably benign	0.17
IGL02585:Aebp1	APN	11	5870855	splice site	probably null
R0006:Aebp1	UTSW	11	5863935	unclassified	probably benign
R0551:Aebp1	UTSW	11	5867955	missense	probably benign	0.04
R1144:Aebp1	UTSW	11	5868475	missense	probably benign	0.17
R1265:Aebp1	UTSW	11	5871740	missense	probably damaging	0.98
R1297:Aebp1	UTSW	11	5870834	missense	possibly damaging	0.69
R1518:Aebp1	UTSW	11	5871469	missense	possibly damaging	0.58
R2567:Aebp1	UTSW	11	5870251	missense	probably benign	0.29
R3155:Aebp1	UTSW	11	5871425	missense	probably benign	0.16
R4415:Aebp1	UTSW	11	5865451	missense	probably damaging	0.96
R4507:Aebp1	UTSW	11	5870565	missense	probably damaging	1.00
R5248:Aebp1	UTSW	11	5868501	missense	possibly damaging	0.63
R5597:Aebp1	UTSW	11	5866487	missense	probably benign	0.01
R5809:Aebp1	UTSW	11	5870257	missense	probably benign
R5919:Aebp1	UTSW	11	5871421	missense	probably benign	0.00
R5982:Aebp1	UTSW	11	5867911	missense	possibly damaging	0.69
R6139:Aebp1	UTSW	11	5871842	missense	probably damaging	1.00
R7067:Aebp1	UTSW	11	5866431	critical splice acceptor site	probably null
R7289:Aebp1	UTSW	11	5865059	missense	probably damaging	1.00
R7383:Aebp1	UTSW	11	5868548	missense	probably damaging	1.00
R7437:Aebp1	UTSW	11	5869757	missense	possibly damaging	0.50
R8681:Aebp1	UTSW	11	5867899	missense	probably null	1.00
R9292:Aebp1	UTSW	11	5865260	missense	possibly damaging	0.90
R9429:Aebp1	UTSW	11	5871649	missense	probably benign	0.01
R9740:Aebp1	UTSW	11	5871721	missense	probably benign	0.32
Z1088:Aebp1	UTSW	11	5871460	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTGAACGTTACCTGTCCCCAGATG -3'
(R):5'- TTACTCCCAGAGCGAGGATTCCAC -3'

Sequencing Primer
(F):5'- CCAGATGCCACGGTGAGAG -3'
(R):5'- AAATAGCGTGATCTGGAGTCTC -3'

Posted On

2014-04-13