Mutagenetix > Incidental Mutation

Incidental Mutation 'R7654:Aebp2'

628228

Institutional Source

Beutler Lab

Gene Symbol

Aebp2

Ensembl Gene

ENSMUSG00000030232

Gene Name

AE binding protein 2

Synonyms

B230313N05Rik

MMRRC Submission

045702-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7654 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140568389-140624198 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 140599474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q9Z248

Predicted Effect

probably benign
Transcript: ENSMUST00000032359

SMART Domains

Protein: ENSMUSP00000032359
Gene: ENSMUSG00000030232

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: ENSMUST00000087614

SMART Domains

Protein: ENSMUSP00000084896
Gene: ENSMUSG00000030232

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 benign
Transcript: ENSMUST00000095350

SMART Domains

Protein: ENSMUSP00000092993
Gene: ENSMUSG00000030232

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 benign
Transcript: ENSMUST00000160836

SMART Domains

Protein: ENSMUSP00000124148
Gene: ENSMUSG00000030232

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: ENSMUST00000161335

SMART Domains

Protein: ENSMUSP00000125479
Gene: ENSMUSG00000030232

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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (76/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,815,032 (GRCm39)	V1140M	possibly damaging	Het
Adamtsl3	A	C	7: 82,223,702 (GRCm39)	E1161A	probably benign	Het
Adcy5	T	C	16: 35,091,317 (GRCm39)	S587P	probably damaging	Het
Alb	G	C	5: 90,615,214 (GRCm39)	R242P	probably damaging	Het
Ankhd1	T	C	18: 36,727,154 (GRCm39)	V423A	probably damaging	Het
Arid1b	T	A	17: 5,341,360 (GRCm39)	M888K	possibly damaging	Het
Asl	C	A	5: 130,047,231 (GRCm39)	R122S	probably damaging	Het
B3gntl1	T	A	11: 121,542,439 (GRCm39)	D109V	probably damaging	Het
Cat	G	A	2: 103,290,709 (GRCm39)	P402S	probably damaging	Het
Ccdc141	A	T	2: 76,872,822 (GRCm39)	Y787N	probably benign	Het
Ccdc78	T	C	17: 26,009,085 (GRCm39)	Y405H	probably damaging	Het
Ces1f	T	G	8: 93,998,562 (GRCm39)	K145Q	probably benign	Het
Cfap65	A	T	1: 74,972,303 (GRCm39)	C19S	probably benign	Het
CN725425	T	A	15: 91,123,638 (GRCm39)	I118N	probably benign	Het
Ctc1	C	T	11: 68,917,041 (GRCm39)	P312S	probably damaging	Het
Ctsa	C	T	2: 164,680,853 (GRCm39)	T442I	probably benign	Het
Cyp2b9	A	G	7: 25,886,367 (GRCm39)	T131A	possibly damaging	Het
D630045J12Rik	A	G	6: 38,154,636 (GRCm39)	M1181T	probably damaging	Het
Dagla	C	G	19: 10,225,570 (GRCm39)	G865R	probably benign	Het
Dst	A	C	1: 34,268,058 (GRCm39)	K3153Q	probably damaging	Het
Dst	A	T	1: 34,268,059 (GRCm39)	K3153M	probably damaging	Het
Dync2h1	A	T	9: 7,122,664 (GRCm39)	H2097Q	probably damaging	Het
Etnppl	A	G	3: 130,423,160 (GRCm39)	I286M	probably benign	Het
Flvcr1	A	T	1: 190,743,802 (GRCm39)	M418K	possibly damaging	Het
Fuca1	T	C	4: 135,657,232 (GRCm39)	S215P	probably damaging	Het
Gabrg1	T	C	5: 70,935,504 (GRCm39)	K222E	probably benign	Het
Gdpd5	G	A	7: 99,073,396 (GRCm39)	R26H	probably damaging	Het
Gnptab	T	A	10: 88,281,681 (GRCm39)	S1229R	possibly damaging	Het
Gpt	A	G	15: 76,582,530 (GRCm39)	E256G	probably benign	Het
Hif3a	C	T	7: 16,783,021 (GRCm39)	V261I	probably damaging	Het
Hmcn2	A	G	2: 31,236,581 (GRCm39)	T375A	probably benign	Het
Hspa4	C	A	11: 53,190,951 (GRCm39)	V15F	probably damaging	Het
Il18	A	G	9: 50,490,701 (GRCm39)	N112S	possibly damaging	Het
Inpp4a	A	G	1: 37,413,179 (GRCm39)		probably null	Het
Knop1	A	G	7: 118,445,032 (GRCm39)	S525P	unknown	Het
Leo1	A	T	9: 75,362,961 (GRCm39)	Y461F	possibly damaging	Het
Med1	C	T	11: 98,060,189 (GRCm39)	V247I	possibly damaging	Het
Mpnd	T	G	17: 56,317,489 (GRCm39)	H159Q	probably benign	Het
Msl1	A	G	11: 98,686,937 (GRCm39)	E94G	possibly damaging	Het
Mthfd2l	A	T	5: 91,094,665 (GRCm39)	I45F	probably damaging	Het
Neurl1b	T	A	17: 26,657,671 (GRCm39)	L203Q	probably benign	Het
Or5m12	G	T	2: 85,734,663 (GRCm39)	T245N	possibly damaging	Het
Otoa	T	G	7: 120,746,923 (GRCm39)	L896R	probably damaging	Het
Pcdhac2	T	A	18: 37,278,076 (GRCm39)	V352E	probably damaging	Het
Pcsk5	T	A	19: 17,434,168 (GRCm39)	K1400I	possibly damaging	Het
Pcx	T	A	19: 4,565,697 (GRCm39)		probably null	Het
Pds5a	A	G	5: 65,776,324 (GRCm39)	V90A	probably damaging	Het
Pgam2	T	C	11: 5,753,351 (GRCm39)	K113R	probably null	Het
Phkb	G	T	8: 86,667,516 (GRCm39)	R266L	possibly damaging	Het
Phtf2	A	G	5: 20,987,459 (GRCm39)	S346P	probably damaging	Het
Pkd1l3	G	A	8: 110,365,049 (GRCm39)	A1144T	probably damaging	Het
Plbd1	T	C	6: 136,628,864 (GRCm39)	Y68C	possibly damaging	Het
Polk	T	C	13: 96,633,321 (GRCm39)	T241A	probably benign	Het
Ppfibp2	T	A	7: 107,337,818 (GRCm39)	D635E	probably damaging	Het
Ppip5k1	G	A	2: 121,179,040 (GRCm39)	R229W	probably damaging	Het
Ptpn20	A	G	14: 33,360,281 (GRCm39)	D386G	probably benign	Het
Rab22a	T	C	2: 173,529,968 (GRCm39)	Y49H	probably benign	Het
Rab3gap1	A	G	1: 127,837,652 (GRCm39)	D238G	probably damaging	Het
Rbp3	T	C	14: 33,677,797 (GRCm39)	S582P	probably benign	Het
Rcbtb2	T	C	14: 73,411,941 (GRCm39)	V410A	probably benign	Het
Sh3rf2	A	G	18: 42,237,173 (GRCm39)	E232G	probably damaging	Het
Shroom1	T	A	11: 53,357,735 (GRCm39)	V762E	probably benign	Het
Speer4f2	A	T	5: 17,579,413 (GRCm39)	M71L		Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Tgfb1	A	T	7: 25,387,120 (GRCm39)		probably benign	Het
Tnik	C	T	3: 28,658,334 (GRCm39)	R540C	probably damaging	Het
Tti1	A	T	2: 157,850,474 (GRCm39)	I255N	probably benign	Het
Ttn	T	C	2: 76,727,490 (GRCm39)	S5739G	unknown	Het
Umad1	G	A	6: 8,426,995 (GRCm39)	V57M	probably damaging	Het
Usp30	T	A	5: 114,240,506 (GRCm39)	I49N	probably damaging	Het
Usp7	G	A	16: 8,519,907 (GRCm39)	T398I	probably benign	Het
Vmn2r65	A	G	7: 84,590,261 (GRCm39)	Y552H	probably damaging	Het
Zfp616	A	G	11: 73,974,013 (GRCm39)	N185S	possibly damaging	Het
Zfp804b	T	A	5: 6,819,458 (GRCm39)	T1202S	probably damaging	Het
Zfyve28	A	T	5: 34,400,539 (GRCm39)	V53D	probably damaging	Het

Other mutations in Aebp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00915:Aebp2	APN	6	140,587,980 (GRCm39)	missense	probably benign	0.29
IGL01935:Aebp2	APN	6	140,583,383 (GRCm39)	unclassified	probably benign
IGL02149:Aebp2	APN	6	140,588,010 (GRCm39)	missense	probably benign	0.06
Amazonian	UTSW	6	140,587,954 (GRCm39)	missense	probably damaging	1.00
Floral	UTSW	6	140,583,456 (GRCm39)	missense	possibly damaging	0.90
Herbal	UTSW	6	140,583,389 (GRCm39)	missense	possibly damaging	0.91
Medicinal	UTSW	6	140,583,452 (GRCm39)	nonsense	probably null
PIT4453001:Aebp2	UTSW	6	140,583,412 (GRCm39)	nonsense	probably null
R0030:Aebp2	UTSW	6	140,583,473 (GRCm39)	missense	probably damaging	0.99
R0091:Aebp2	UTSW	6	140,589,800 (GRCm39)	critical splice donor site	probably null
R0744:Aebp2	UTSW	6	140,588,090 (GRCm39)	splice site	probably null
R1603:Aebp2	UTSW	6	140,587,979 (GRCm39)	missense	probably damaging	0.98
R1990:Aebp2	UTSW	6	140,579,464 (GRCm39)	missense	probably damaging	1.00
R2073:Aebp2	UTSW	6	140,579,420 (GRCm39)	missense	probably benign	0.41
R2075:Aebp2	UTSW	6	140,579,420 (GRCm39)	missense	probably benign	0.41
R2971:Aebp2	UTSW	6	140,579,624 (GRCm39)	critical splice donor site	probably null
R3805:Aebp2	UTSW	6	140,589,675 (GRCm39)	frame shift	probably null
R3911:Aebp2	UTSW	6	140,593,707 (GRCm39)	missense	probably damaging	1.00
R3921:Aebp2	UTSW	6	140,579,461 (GRCm39)	missense	probably damaging	1.00
R4020:Aebp2	UTSW	6	140,588,021 (GRCm39)	missense	probably damaging	1.00
R4374:Aebp2	UTSW	6	140,599,984 (GRCm39)	utr 3 prime	probably benign
R4856:Aebp2	UTSW	6	140,589,799 (GRCm39)	critical splice donor site	probably null
R5022:Aebp2	UTSW	6	140,583,456 (GRCm39)	missense	possibly damaging	0.90
R5140:Aebp2	UTSW	6	140,579,532 (GRCm39)	nonsense	probably null
R5761:Aebp2	UTSW	6	140,569,943 (GRCm39)	unclassified	probably benign
R6983:Aebp2	UTSW	6	140,583,389 (GRCm39)	missense	possibly damaging	0.91
R7168:Aebp2	UTSW	6	140,579,426 (GRCm39)	missense	probably damaging	0.98
R7259:Aebp2	UTSW	6	140,579,494 (GRCm39)	missense	probably benign	0.03
R7463:Aebp2	UTSW	6	140,583,452 (GRCm39)	nonsense	probably null
R7556:Aebp2	UTSW	6	140,623,137 (GRCm39)	missense	probably benign	0.07
R7745:Aebp2	UTSW	6	140,569,584 (GRCm39)	missense	unknown
R8258:Aebp2	UTSW	6	140,583,453 (GRCm39)	missense	possibly damaging	0.82
R8259:Aebp2	UTSW	6	140,583,453 (GRCm39)	missense	possibly damaging	0.82
R8540:Aebp2	UTSW	6	140,579,439 (GRCm39)	missense	probably benign	0.02
R8540:Aebp2	UTSW	6	140,579,437 (GRCm39)	missense	probably benign	0.02
R9133:Aebp2	UTSW	6	140,579,441 (GRCm39)	missense	probably damaging	1.00
R9205:Aebp2	UTSW	6	140,587,954 (GRCm39)	missense	probably damaging	1.00
R9431:Aebp2	UTSW	6	140,592,594 (GRCm39)	missense	probably damaging	1.00
R9605:Aebp2	UTSW	6	140,593,736 (GRCm39)	missense	probably damaging	1.00
R9762:Aebp2	UTSW	6	140,588,021 (GRCm39)	missense	probably damaging	1.00
Z1177:Aebp2	UTSW	6	140,569,820 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACATGGCGTTTGGGTGGAAC -3'
(R):5'- TTGTTTGCCTCAGGATATCACTCG -3'

Sequencing Primer
(F):5'- GAGGATCTACAATTTTCCCATGTGTG -3'
(R):5'- GGGCCTTGAACTCTTGGAAATCC -3'

Posted On

2020-02-11