Mutagenetix > Incidental Mutation

Incidental Mutation 'R4856:Aebp2'

374550

Institutional Source

Beutler Lab

Gene Symbol

Aebp2

Ensembl Gene

ENSMUSG00000030232

Gene Name

AE binding protein 2

Synonyms

B230313N05Rik

MMRRC Submission

042467-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4856 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140568389-140624198 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 140589799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q9Z248

Predicted Effect

probably null
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 null
Transcript: ENSMUST00000068583

SMART Domains

Protein: ENSMUSP00000064302
Gene: ENSMUSG00000030232

Domain	Start	End	E-Value	Type
ZnF_C2H2	53	78	1.26e-2	SMART
ZnF_C2H2	87	114	5.92e0	SMART
ZnF_C2H2	120	144	2.2e-2	SMART
low complexity region	170	186	N/A	INTRINSIC

Predicted Effect

probably null
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 null
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 null
Transcript: ENSMUST00000159979

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160772

Predicted Effect

probably null
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 null
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 null
Transcript: ENSMUST00000162669

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162100

Predicted Effect

probably null
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: 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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp2b4	T	A	1: 133,634,518 (GRCm39)	I1177L	probably benign	Het
Bub3	A	T	7: 131,163,297 (GRCm39)	D76V	probably damaging	Het
Cacna2d4	G	A	6: 119,255,217 (GRCm39)	R578Q	possibly damaging	Het
Caprin2	A	C	6: 148,774,509 (GRCm39)	S268A	probably benign	Het
Card6	T	C	15: 5,134,623 (GRCm39)		probably null	Het
Cdk13	A	G	13: 17,894,319 (GRCm39)	S1103P	probably benign	Het
Cfap221	T	C	1: 119,861,934 (GRCm39)	T614A	probably damaging	Het
Cfap221	T	A	1: 119,912,488 (GRCm39)	Y133F	probably damaging	Het
Clcc1	A	G	3: 108,584,154 (GRCm39)	T513A	probably benign	Het
Clec4g	T	A	8: 3,766,419 (GRCm39)		probably benign	Het
Cntln	A	C	4: 84,889,466 (GRCm39)	E316D	probably benign	Het
Cpne2	T	A	8: 95,290,592 (GRCm39)	D392E	probably benign	Het
Cry1	G	T	10: 84,984,634 (GRCm39)	P147T	probably damaging	Het
Cyp4a29	T	C	4: 115,110,078 (GRCm39)	V440A	probably benign	Het
Ddx46	A	G	13: 55,786,012 (GRCm39)	D64G	unknown	Het
Dhx34	A	G	7: 15,949,367 (GRCm39)	S354P	possibly damaging	Het
Ecm2	A	T	13: 49,676,263 (GRCm39)	I327F	possibly damaging	Het
Elavl3	T	C	9: 21,937,614 (GRCm39)	K189E	possibly damaging	Het
Enam	A	T	5: 88,636,593 (GRCm39)	R82*	probably null	Het
Erf	A	G	7: 24,945,636 (GRCm39)	V45A	probably damaging	Het
Fat3	T	A	9: 15,932,626 (GRCm39)	I1436F	probably benign	Het
Flnc	T	C	6: 29,447,889 (GRCm39)	Y1231H	probably damaging	Het
Ggta1	T	A	2: 35,292,803 (GRCm39)	H180L	possibly damaging	Het
Grin2c	T	C	11: 115,151,616 (GRCm39)	T115A	probably damaging	Het
H6pd	C	T	4: 150,067,235 (GRCm39)	V384M	possibly damaging	Het
Hba-x	A	G	11: 32,227,008 (GRCm39)	E39G	probably benign	Het
Hnrnpul2	C	T	19: 8,807,191 (GRCm39)	P618S	probably benign	Het
Hpse2	C	T	19: 42,777,396 (GRCm39)	R590H	probably damaging	Het
Ighv1-54	C	A	12: 115,157,423 (GRCm39)	G75C	probably damaging	Het
Ighv8-11	C	A	12: 115,530,774 (GRCm39)	R118L	possibly damaging	Het
Iqcm	A	T	8: 76,615,228 (GRCm39)	R436S	possibly damaging	Het
Islr	T	C	9: 58,064,889 (GRCm39)	D206G	probably damaging	Het
Itih1	A	G	14: 30,658,658 (GRCm39)		probably null	Het
Jam2	G	A	16: 84,598,490 (GRCm39)	D34N	probably benign	Het
Klhl14	A	T	18: 21,691,029 (GRCm39)		probably null	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Lrrc66	A	G	5: 73,765,910 (GRCm39)	F378L	probably benign	Het
Map10	T	A	8: 126,397,431 (GRCm39)	Y275N	probably damaging	Het
Mpi	T	C	9: 57,452,590 (GRCm39)	Y314C	probably damaging	Het
Mpp3	A	G	11: 101,915,962 (GRCm39)	Y55H	probably benign	Het
Nectin4	T	C	1: 171,212,383 (GRCm39)	V327A	possibly damaging	Het
Nlrp12	T	A	7: 3,289,072 (GRCm39)	D480V	probably damaging	Het
Nolc1	GAGCAGCAGCAGCAGCAGCAGCAGCAGC	GAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,071,594 (GRCm39)		probably benign	Het
Notch2	A	T	3: 98,009,735 (GRCm39)	Y554F	probably damaging	Het
Nrsn2	T	C	2: 152,211,531 (GRCm39)	K167E	probably benign	Het
Olr1	T	A	6: 129,470,559 (GRCm39)	K203*	probably null	Het
Or14j8	A	T	17: 38,262,962 (GRCm39)	S318T	probably benign	Het
Or2ag13	T	A	7: 106,473,177 (GRCm39)	I92F	probably damaging	Het
Or5b117	T	C	19: 13,431,885 (GRCm39)		probably null	Het
Or8b3	A	T	9: 38,314,764 (GRCm39)	N195I	probably damaging	Het
Or9i2	T	A	19: 13,815,643 (GRCm39)	E298V	probably damaging	Het
Osbpl9	T	C	4: 108,925,564 (GRCm39)	N485S	probably benign	Het
Pbk	T	A	14: 66,052,650 (GRCm39)	H164Q	probably damaging	Het
Pfn2	G	T	3: 57,754,874 (GRCm39)	N10K	probably damaging	Het
Pik3ca	A	G	3: 32,491,312 (GRCm39)	D133G	probably damaging	Het
Pramel27	G	T	4: 143,579,873 (GRCm39)	R486L	probably benign	Het
Prl6a1	A	T	13: 27,502,983 (GRCm39)	D193V	probably damaging	Het
Rad21	G	T	15: 51,831,896 (GRCm39)	P395Q	probably damaging	Het
Reps1	T	A	10: 17,999,373 (GRCm39)	I720N	probably damaging	Het
Rpn2	T	C	2: 157,159,964 (GRCm39)		probably null	Het
Rreb1	G	A	13: 38,115,034 (GRCm39)	V798M	possibly damaging	Het
Sardh	C	T	2: 27,134,489 (GRCm39)	R9H	probably benign	Het
Scgb3a2	C	T	18: 43,899,819 (GRCm39)	P36S	probably damaging	Het
Scn10a	C	A	9: 119,523,375 (GRCm39)	G6V	possibly damaging	Het
Scn10a	C	T	9: 119,523,376 (GRCm39)	G6R	possibly damaging	Het
Scn3a	T	C	2: 65,291,376 (GRCm39)	D1790G	probably damaging	Het
Sec24b	A	T	3: 129,777,619 (GRCm39)	H1226Q	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc12a3	G	A	8: 95,078,438 (GRCm39)		probably null	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Spata1	C	G	3: 146,175,529 (GRCm39)	D326H	probably damaging	Het
Tex52	A	T	6: 128,361,951 (GRCm39)		probably null	Het
Tma16	A	C	8: 66,934,129 (GRCm39)	C75W	probably damaging	Het
Tmem67	G	A	4: 12,089,416 (GRCm39)		probably benign	Het
Trgv4	T	C	13: 19,369,236 (GRCm39)	V29A	probably benign	Het
Trmt10a	A	T	3: 137,854,146 (GRCm39)	K75*	probably null	Het
Ttc3	T	C	16: 94,191,142 (GRCm39)	V228A	probably benign	Het
Ttn	T	C	2: 76,561,644 (GRCm39)	D28954G	probably damaging	Het
Uggt2	A	G	14: 119,273,376 (GRCm39)		probably null	Het
Vars1	T	A	17: 35,234,702 (GRCm39)	V1177E	probably benign	Het
Vmn1r59	T	C	7: 5,457,532 (GRCm39)	D76G	possibly damaging	Het
Vmn2r114	G	T	17: 23,527,008 (GRCm39)	A508E	probably benign	Het
Vps41	G	A	13: 19,013,425 (GRCm39)	V348M	probably damaging	Het
Zbtb43	T	C	2: 33,343,944 (GRCm39)	H427R	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
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
R7654:Aebp2	UTSW	6	140,599,474 (GRCm39)	splice site	probably null
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'- GCAAAGCACACGGTTGACATC -3'
(R):5'- TTCATGTGCAGAGTGCCAGG -3'

Sequencing Primer
(F):5'- GCACACGGTTGACATCTTCTAAACTG -3'
(R):5'- TGCAGAGTGCCAGGATTCAC -3'

Posted On

2016-03-16