Mutagenetix > Incidental Mutation

Incidental Mutation 'R7463:Aebp2'

578556

Institutional Source

Beutler Lab

Gene Symbol

Aebp2

Ensembl Gene

ENSMUSG00000030232

Gene Name

AE binding protein 2

Synonyms

B230313N05Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7463 (G1)

Quality Score

196.009

Status

Validated

Chromosome

Chromosomal Location

140622663-140678472 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 140637726 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 309 (Q309*)

Ref Sequence

ENSEMBL: ENSMUSP00000092993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032359] [ENSMUST00000087614] [ENSMUST00000095350] [ENSMUST00000160836] [ENSMUST00000161335]

AlphaFold

Q9Z248

Predicted Effect

probably null
Transcript: ENSMUST00000032359
AA Change: Q87*

SMART Domains

Protein: ENSMUSP00000032359
Gene: ENSMUSG00000030232
AA Change: Q87*

Domain	Start	End	E-Value	Type
ZnF_C2H2	32	57	1.26e-2	SMART
ZnF_C2H2	66	93	5.92e0	SMART
ZnF_C2H2	99	123	2.2e-2	SMART
low complexity region	149	165	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000087614
AA Change: Q309*

SMART Domains

Protein: ENSMUSP00000084896
Gene: ENSMUSG00000030232
AA Change: Q309*

Domain	Start	End	E-Value	Type
low complexity region	1	71	N/A	INTRINSIC
low complexity region	81	124	N/A	INTRINSIC
low complexity region	128	199	N/A	INTRINSIC
ZnF_C2H2	254	279	1.26e-2	SMART
ZnF_C2H2	288	315	5.92e0	SMART
ZnF_C2H2	321	345	2.2e-2	SMART
low complexity region	371	387	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000095350
AA Change: Q309*

SMART Domains

Protein: ENSMUSP00000092993
Gene: ENSMUSG00000030232
AA Change: Q309*

Domain	Start	End	E-Value	Type
low complexity region	4	22	N/A	INTRINSIC
ZnF_C2H2	77	102	1.26e-2	SMART
ZnF_C2H2	111	138	5.92e0	SMART
ZnF_C2H2	144	168	2.2e-2	SMART
low complexity region	194	210	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000160836
AA Change: Q87*

SMART Domains

Protein: ENSMUSP00000124148
Gene: ENSMUSG00000030232
AA Change: Q87*

Domain	Start	End	E-Value	Type
ZnF_C2H2	32	57	1.26e-2	SMART
ZnF_C2H2	66	93	5.92e0	SMART
ZnF_C2H2	99	123	2.2e-2	SMART
low complexity region	149	165	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000161335
AA Change: Q87*

SMART Domains

Protein: ENSMUSP00000125479
Gene: ENSMUSG00000030232
AA Change: Q87*

Domain	Start	End	E-Value	Type
ZnF_C2H2	32	57	1.26e-2	SMART
ZnF_C2H2	66	93	5.92e0	SMART
ZnF_C2H2	99	123	2.2e-2	SMART
low complexity region	149	165	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162903

SMART Domains

Protein: ENSMUSP00000123897
Gene: ENSMUSG00000030232

Domain	Start	End	E-Value	Type
ZnF_C2H2	2	26	2.2e-2	SMART
low complexity region	52	68	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

100% (62/62)

MGI Phenotype

PHENOTYPE: Mice homozygous for a mutation in this gene show complete embryonic lethality. Heterozygous mutant mice show aganglionic megacolon, hypopigmentation of the tail tip and hind toes, and a decreased startle reflex. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,323,772	V435E	probably damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Adcy2	T	C	13: 68,730,280	D413G	probably damaging	Het
Adgrg6	T	A	10: 14,434,396	D727V	possibly damaging	Het
Amy1	A	T	3: 113,569,884	C43*	probably null	Het
Bpifc	T	C	10: 85,979,334	E256G	probably benign	Het
Bysl	A	T	17: 47,602,471	S296T	probably benign	Het
Carmil3	C	T	14: 55,502,396	P980L	probably damaging	Het
Coch	T	A	12: 51,593,625	M1K	probably null	Het
Cpt2	A	T	4: 107,908,157	F137I	probably damaging	Het
Crem	T	C	18: 3,295,094	I112V	probably benign	Het
Cul9	A	G	17: 46,520,476		probably null	Het
Cyp3a41a	T	A	5: 145,713,564	I90F	probably damaging	Het
Cyp4f16	C	T	17: 32,550,787	A457V	possibly damaging	Het
Ddx6	A	G	9: 44,628,729	E318G	probably damaging	Het
Dip2b	A	G	15: 100,154,157	E213G	probably benign	Het
Dlx5	T	C	6: 6,878,316	H238R	probably damaging	Het
Dnaic2	A	C	11: 114,754,406	I556L	probably benign	Het
Dnmt1	C	T	9: 20,912,225	V1147M	possibly damaging	Het
Egf	G	T	3: 129,740,015	Q59K	probably benign	Het
Ermp1	A	T	19: 29,646,262	Y109*	probably null	Het
Fer1l6	T	A	15: 58,573,601	Y573*	probably null	Het
Fmnl1	T	C	11: 103,193,128	L503P	probably damaging	Het
Gnptab	T	G	10: 88,431,389	I447M	probably damaging	Het
Hgf	G	A	5: 16,578,450	D253N	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Igf2r	T	C	17: 12,710,645	T958A	probably benign	Het
Kcnd2	T	A	6: 21,216,498	L67Q	probably damaging	Het
Kif5a	A	G	10: 127,243,724	V248A	probably damaging	Het
Krt33b	A	G	11: 100,029,563	I88T	probably damaging	Het
Lhx2	G	A	2: 38,351,846	E25K	possibly damaging	Het
Mex3d	C	T	10: 80,381,698	G562R		Het
Myom2	A	T	8: 15,117,679	Y1088F	probably null	Het
Ncapg	T	A	5: 45,694,092		probably null	Het
Nudc	A	C	4: 133,534,403	V190G	possibly damaging	Het
Obscn	G	T	11: 59,122,860	R1054S	probably benign	Het
Olfr1045	T	C	2: 86,197,838	M305V	probably benign	Het
Olfr1510	A	G	14: 52,410,711	W54R	probably benign	Het
Olfr651	T	C	7: 104,553,482	S188P	possibly damaging	Het
Olfr683	T	A	7: 105,143,937	M119L	probably benign	Het
Olfr710	A	T	7: 106,944,173	V276E	probably damaging	Het
Olfr979	A	G	9: 40,000,564	V221A	probably benign	Het
Pcdh10	A	T	3: 45,383,572	R891S	possibly damaging	Het
Pcdh15	C	T	10: 74,631,770	S1873L	possibly damaging	Het
Pcdh7	A	G	5: 57,720,998	K632E	probably benign	Het
Pcdhgb8	G	A	18: 37,763,427	A517T	probably damaging	Het
Ptgr2	A	T	12: 84,292,298		probably benign	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Racgap1	T	A	15: 99,642,958	T4S	probably benign	Het
Rb1cc1	A	G	1: 6,249,180	H941R	probably benign	Het
Reln	T	C	5: 22,103,435	H312R	probably damaging	Het
Rnf166	T	A	8: 122,467,987	H208L	probably damaging	Het
Theg	T	C	10: 79,576,715	E314G	probably damaging	Het
Timeless	T	C	10: 128,250,426	S999P	probably benign	Het
Tmem94	G	T	11: 115,786,256	R118L	possibly damaging	Het
Tor1aip1	A	T	1: 156,007,609	H349Q	possibly damaging	Het
Ttn	T	A	2: 76,920,460	E3415V	probably benign	Het
Vmn2r102	A	T	17: 19,676,624	N78Y	probably damaging	Het
Wdr11	A	T	7: 129,607,086	D427V	probably damaging	Het
Zer1	A	T	2: 30,113,437		probably benign	Het
Zfp516	T	A	18: 82,957,108	M477K	probably benign	Het

Other mutations in Aebp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00915:Aebp2	APN	6	140642254	missense	probably benign	0.29
IGL01935:Aebp2	APN	6	140637657	unclassified	probably benign
IGL02149:Aebp2	APN	6	140642284	missense	probably benign	0.06
Amazonian	UTSW	6	140642228	missense	probably damaging	1.00
Floral	UTSW	6	140637730	missense	possibly damaging	0.90
Herbal	UTSW	6	140637663	missense	possibly damaging	0.91
Medicinal	UTSW	6	140637726	nonsense	probably null
PIT4453001:Aebp2	UTSW	6	140637686	nonsense	probably null
R0030:Aebp2	UTSW	6	140637747	missense	probably damaging	0.99
R0091:Aebp2	UTSW	6	140644074	critical splice donor site	probably null
R0744:Aebp2	UTSW	6	140642364	splice site	probably null
R1603:Aebp2	UTSW	6	140642253	missense	probably damaging	0.98
R1990:Aebp2	UTSW	6	140633738	missense	probably damaging	1.00
R2073:Aebp2	UTSW	6	140633694	missense	probably benign	0.41
R2075:Aebp2	UTSW	6	140633694	missense	probably benign	0.41
R2971:Aebp2	UTSW	6	140633898	critical splice donor site	probably null
R3805:Aebp2	UTSW	6	140643949	frame shift	probably null
R3911:Aebp2	UTSW	6	140647981	missense	probably damaging	1.00
R3921:Aebp2	UTSW	6	140633735	missense	probably damaging	1.00
R4020:Aebp2	UTSW	6	140642295	missense	probably damaging	1.00
R4374:Aebp2	UTSW	6	140654258	utr 3 prime	probably benign
R4856:Aebp2	UTSW	6	140644073	critical splice donor site	probably null
R5022:Aebp2	UTSW	6	140637730	missense	possibly damaging	0.90
R5140:Aebp2	UTSW	6	140633806	nonsense	probably null
R5761:Aebp2	UTSW	6	140624217	unclassified	probably benign
R6983:Aebp2	UTSW	6	140637663	missense	possibly damaging	0.91
R7168:Aebp2	UTSW	6	140633700	missense	probably damaging	0.98
R7259:Aebp2	UTSW	6	140633768	missense	probably benign	0.03
R7556:Aebp2	UTSW	6	140677411	missense	probably benign	0.07
R7654:Aebp2	UTSW	6	140653748	splice site	probably null
R7745:Aebp2	UTSW	6	140623858	missense	unknown
R8258:Aebp2	UTSW	6	140637727	missense	possibly damaging	0.82
R8259:Aebp2	UTSW	6	140637727	missense	possibly damaging	0.82
R8540:Aebp2	UTSW	6	140633711	missense	probably benign	0.02
R8540:Aebp2	UTSW	6	140633713	missense	probably benign	0.02
R9133:Aebp2	UTSW	6	140633715	missense	probably damaging	1.00
R9205:Aebp2	UTSW	6	140642228	missense	probably damaging	1.00
R9431:Aebp2	UTSW	6	140646868	missense	probably damaging	1.00
R9605:Aebp2	UTSW	6	140648010	missense	probably damaging	1.00
R9762:Aebp2	UTSW	6	140642295	missense	probably damaging	1.00
Z1177:Aebp2	UTSW	6	140624094	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CATTGAGTGCACAGTGTTTATCAG -3'
(R):5'- AGAAGGCCCAAAGTATGCTCAC -3'

Sequencing Primer
(F):5'- ACGAGGATCCAAAGTCTT -3'
(R):5'- TATGGTGGCTCAACCTGAAATGC -3'

Posted On

2019-10-07