Mutagenetix > Incidental Mutations

Incidental Mutation 'R0744:Aebp2'

70846

Institutional Source

Beutler Lab

Gene Symbol

Aebp2

Ensembl Gene

ENSMUSG00000030232

Gene Name

AE binding protein 2

Synonyms

B230313N05Rik

MMRRC Submission

038925-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0744 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140622663-140678472 bp(+) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to G at 140642364 bp (GRCm38)

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: 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162100

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: ENSMUST00000204724

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

98% (91/93)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,165,069	L41P	probably damaging	Het
A930003A15Rik	T	C	16: 19,883,872		noncoding transcript	Het
Abca8a	A	T	11: 110,040,564	D1253E	possibly damaging	Het
Acsm3	T	C	7: 119,777,100	I350T	possibly damaging	Het
Adcy9	T	C	16: 4,419,271	D92G	possibly damaging	Het
AI987944	T	C	7: 41,376,859	Y6C	probably damaging	Het
Ascc3	T	C	10: 50,845,666	W2072R	probably benign	Het
Asxl3	A	G	18: 22,516,040	D362G	probably damaging	Het
Baiap2l1	T	A	5: 144,266,641	D479V	probably benign	Het
Bdp1	A	T	13: 100,035,825	H2094Q	probably benign	Het
Bptf	C	A	11: 107,110,812		probably null	Het
Camk4	G	T	18: 32,939,454	S20I	unknown	Het
Ccdc36	A	T	9: 108,404,801	C563S	probably benign	Het
Ccdc85a	T	A	11: 28,583,296	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,802,394	M336K	probably benign	Het
Cd209e	G	T	8: 3,853,205	D62E	probably benign	Het
Cd226	A	C	18: 89,207,020		probably benign	Het
Clip1	T	C	5: 123,630,721	D605G	probably benign	Het
Crtc1	A	G	8: 70,393,013	V306A	probably benign	Het
D130043K22Rik	G	A	13: 24,863,580		probably benign	Het
Dmxl1	T	C	18: 49,833,148	V20A	probably damaging	Het
Dzip3	A	G	16: 48,959,675	Y301H	probably damaging	Het
Ephb4	T	A	5: 137,365,667	N600K	probably damaging	Het
Erich6	T	A	3: 58,636,122		probably benign	Het
Fbn1	T	C	2: 125,314,814		probably benign	Het
Fryl	A	T	5: 73,089,081		probably benign	Het
Galnt17	T	A	5: 131,150,916	D131V	probably damaging	Het
Gm13089	A	T	4: 143,698,486	M129K	probably benign	Het
Gm597	A	G	1: 28,777,821	S377P	possibly damaging	Het
Gm6619	T	A	6: 131,490,334	L54Q	probably damaging	Het
Herc2	T	C	7: 56,206,036		probably benign	Het
Hic1	T	A	11: 75,165,801	Q754L	possibly damaging	Het
Hnf4g	A	T	3: 3,651,629	D286V	possibly damaging	Het
Itgb5	A	G	16: 33,900,583	K339R	probably damaging	Het
Itih1	A	T	14: 30,941,555	V164E	probably damaging	Het
Jak3	A	C	8: 71,683,978	N643T	probably damaging	Het
Lamp1	T	A	8: 13,172,654	F279L	probably damaging	Het
Lrfn5	A	C	12: 61,839,668	T81P	probably damaging	Het
Lrrc58	A	G	16: 37,878,573		probably benign	Het
March6	T	C	15: 31,480,291	Y562C	probably benign	Het
Mark1	T	A	1: 184,921,608	I166F	probably damaging	Het
Mark2	A	G	19: 7,285,824	Y193H	probably damaging	Het
Mast4	C	G	13: 102,737,387	Q1632H	probably damaging	Het
Mcrs1	T	C	15: 99,243,449		probably benign	Het
Mgst3	A	G	1: 167,373,805	Y104H	probably damaging	Het
Mlxipl	C	T	5: 135,132,475	T416I	possibly damaging	Het
Mthfd2l	T	C	5: 90,946,942	V90A	probably damaging	Het
Mtnr1a	A	T	8: 45,087,937	I312F	probably benign	Het
Muc1	C	A	3: 89,230,328	P159Q	possibly damaging	Het
Myom2	A	T	8: 15,132,924	K1454*	probably null	Het
Myt1	TGAGGAGGAGGAGGAGGAGG	TGAGGAGGAGGAGGAGG	2: 181,797,505		probably benign	Het
Olfr1513	T	C	14: 52,349,378	I223V	probably benign	Het
Olfr329-ps	T	A	11: 58,543,162	M105L	possibly damaging	Het
Olfr504	T	C	7: 108,564,998	T266A	possibly damaging	Het
Olfr629	T	C	7: 103,740,925	H105R	probably damaging	Het
Olfr905	A	T	9: 38,472,785	I13F	probably benign	Het
Pdcd6	A	G	13: 74,316,324		probably benign	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Pzp	A	G	6: 128,516,195		probably benign	Het
Rab27b	T	C	18: 69,987,041		probably benign	Het
Rapgef3	G	A	15: 97,761,585		probably benign	Het
Rapsn	T	C	2: 91,036,808	Y152H	probably damaging	Het
Rgs11	T	A	17: 26,203,318	M29K	probably damaging	Het
Rictor	A	G	15: 6,764,278		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rims1	T	C	1: 22,427,459		probably null	Het
Samd9l	T	C	6: 3,372,725	E1512G	possibly damaging	Het
Sgsm1	C	T	5: 113,279,184	A127T	probably benign	Het
Slc22a28	T	C	19: 8,116,833	Y245C	possibly damaging	Het
Slc25a1	T	A	16: 17,927,436	H78L	probably benign	Het
Slc26a1	T	A	5: 108,673,523	T167S	probably benign	Het
Slc2a12	T	C	10: 22,702,016		probably benign	Het
Slc44a5	T	C	3: 154,265,474	S654P	probably damaging	Het
Slc51a	T	A	16: 32,475,849	T306S	probably benign	Het
Slc6a13	T	G	6: 121,302,867	W67G	probably damaging	Het
Sowahc	GGGAGGAGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGAGGAGGA	10: 59,223,491		probably benign	Het
Sp100	A	T	1: 85,699,744	I86L	probably damaging	Het
Supt20	T	A	3: 54,714,701	Y409N	probably damaging	Het
Synrg	C	T	11: 84,024,305	Q1046*	probably null	Het
Tab2	T	C	10: 7,907,581		probably benign	Het
Tcof1	T	C	18: 60,845,832	D48G	probably damaging	Het
Tex24	A	T	8: 27,344,720	H92L	possibly damaging	Het
Tgm6	T	C	2: 130,151,761	V640A	probably benign	Het
Tle2	T	C	10: 81,588,947	F667L	probably damaging	Het
Tnfaip3	C	A	10: 19,002,949	A704S	probably benign	Het
Tomm34	T	C	2: 164,070,976	N22D	probably benign	Het
Trabd2b	A	G	4: 114,580,322	Q232R	probably benign	Het
Trim62	A	G	4: 128,884,215	S16G	probably damaging	Het
Ttc28	T	A	5: 111,231,081	I1144N	probably damaging	Het
Unc5a	C	A	13: 55,003,933	N56K	possibly damaging	Het
Ush2a	C	T	1: 188,814,406		probably benign	Het
Wrn	A	G	8: 33,295,006	I446T	possibly damaging	Het
Zbed5	T	A	5: 129,902,272	V354E	possibly damaging	Het
Zfp266	G	A	9: 20,499,799	H361Y	probably damaging	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
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
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
R7463:Aebp2	UTSW	6	140637726	nonsense	probably null
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
Z1177:Aebp2	UTSW	6	140624094	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TACCTGCTGAGACCATCCATGACC -3'
(R):5'- CGGCTAATTCCTAACTCCCAACACTTG -3'

Sequencing Primer
(F):5'- AAGCAGTAACGCCAACTCTTTTTC -3'
(R):5'- CAAGTTGTTTCACAGTTCACACAC -3'

Posted On

2013-09-30