Mutagenetix > Incidental Mutation

Incidental Mutation 'R5022:Aebp2'

389246

Institutional Source

Beutler Lab

Gene Symbol

Aebp2

Ensembl Gene

ENSMUSG00000030232

Gene Name

AE binding protein 2

Synonyms

B230313N05Rik

MMRRC Submission

042613-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5022 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140622663-140678472 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140637730 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 109 (R109Q)

Gene Model

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

AlphaFold

Q9Z248

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032359
AA Change: R88Q

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000032359
Gene: ENSMUSG00000030232
AA Change: R88Q

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

possibly damaging
Transcript: ENSMUST00000068583
AA Change: R109Q

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000064302
Gene: ENSMUSG00000030232
AA Change: R109Q

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

possibly damaging
Transcript: ENSMUST00000087614
AA Change: R310Q

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000084896
Gene: ENSMUSG00000030232
AA Change: R310Q

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

possibly damaging
Transcript: ENSMUST00000095350
AA Change: R310Q

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000092993
Gene: ENSMUSG00000030232
AA Change: R310Q

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

possibly damaging
Transcript: ENSMUST00000160836
AA Change: R88Q

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124148
Gene: ENSMUSG00000030232
AA Change: R88Q

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

possibly damaging
Transcript: ENSMUST00000161335
AA Change: R88Q

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125479
Gene: ENSMUSG00000030232
AA Change: R88Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204724

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

Validation Efficiency

99% (110/111)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	TCGACTGC	T	4: 53,041,570		probably null	Het
Abca15	T	C	7: 120,346,096	I465T	probably damaging	Het
Abca3	C	T	17: 24,374,300	R224C	probably damaging	Het
Abcb4	T	A	5: 8,909,054		probably null	Het
Acan	T	C	7: 79,092,808		probably null	Het
Agfg2	A	T	5: 137,660,160		probably null	Het
Ankib1	T	A	5: 3,734,011	I322F	possibly damaging	Het
AW551984	A	T	9: 39,597,965	N293K	probably benign	Het
BC028528	T	A	3: 95,888,823		probably benign	Het
Bicc1	A	G	10: 70,947,883	S393P	possibly damaging	Het
Birc6	A	G	17: 74,692,332	Y4656C	probably damaging	Het
Bmp3	A	G	5: 98,872,824	R369G	probably damaging	Het
C1d	T	A	11: 17,266,674	N135K	probably benign	Het
Ccdc148	G	A	2: 58,827,632	A453V	probably damaging	Het
Cd163	C	T	6: 124,325,288	T937I	probably damaging	Het
Celf2	C	T	2: 6,607,847		probably benign	Het
Chga	T	C	12: 102,562,837	W358R	probably damaging	Het
Clec4b2	A	T	6: 123,200,956	S77C	probably null	Het
Crim1	T	C	17: 78,280,129	V221A	possibly damaging	Het
D630003M21Rik	A	T	2: 158,217,633	S116T	probably damaging	Het
Dlg5	T	C	14: 24,136,622	E1847G	probably damaging	Het
Dmxl1	T	A	18: 49,895,127	I2206K	probably damaging	Het
Dusp7	T	A	9: 106,373,741	L355Q	probably damaging	Het
Exd2	T	A	12: 80,496,790	N582K	probably damaging	Het
Fbln1	G	A	15: 85,237,626	S316N	probably damaging	Het
Fchsd1	A	G	18: 37,964,810	I340T	possibly damaging	Het
Fn1	T	C	1: 71,624,179	Y1050C	probably damaging	Het
Fsip2	A	G	2: 82,979,429	I2031V	probably benign	Het
Gm10803	A	C	2: 93,564,172	L96F	probably damaging	Het
Gm12169	T	A	11: 46,528,532	D58E	probably damaging	Het
Gm14569	T	C	X: 36,430,817	D1413G	probably benign	Het
Gm15455	T	C	1: 33,837,351		noncoding transcript	Het
Gm1818	G	C	12: 48,555,535		noncoding transcript	Het
Gm4907	G	A	X: 23,907,241	G327E	probably damaging	Het
Gm5039	T	C	12: 88,321,301	I61V	probably benign	Het
Gm5420	A	T	10: 21,691,727		noncoding transcript	Het
Gm6803	A	T	12: 88,018,711	S21T	unknown	Het
Gm7104	A	T	12: 88,285,759		noncoding transcript	Het
Gp2	A	G	7: 119,449,114	I427T	probably damaging	Het
Gpc4	G	A	X: 52,074,563	R148C	probably damaging	Het
Gpr142	A	C	11: 114,804,388	S60R	probably benign	Het
Helz2	T	C	2: 181,240,569	R144G	probably benign	Het
Herc1	A	T	9: 66,470,326	K3458M	possibly damaging	Het
Hnf4g	G	T	3: 3,644,587	A144S	probably damaging	Het
Irs2	A	C	8: 10,987,012	*1322G	probably null	Het
Keg1	A	G	19: 12,719,157	N288S	probably damaging	Het
Kif19a	G	A	11: 114,767,227	M37I	probably benign	Het
Klhl1	G	A	14: 96,136,706	P635S	probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lsm11	T	C	11: 45,944,839	D25G	probably damaging	Het
Manea	A	T	4: 26,336,630	Y215*	probably null	Het
Mdga2	C	T	12: 66,470,760	C100Y	possibly damaging	Het
Mthfd1	T	G	12: 76,294,374	V480G	probably damaging	Het
Mthfd1	T	A	12: 76,301,328	M582K	probably damaging	Het
Myh7b	G	C	2: 155,632,373	R1669S	possibly damaging	Het
Nanos1	T	C	19: 60,756,980	Y239H	probably damaging	Het
Nat8	G	A	6: 85,830,857	T98I	possibly damaging	Het
Ndufs3	C	A	2: 90,898,660	A161S	probably benign	Het
Nexmif	A	T	X: 104,087,350	N320K	probably damaging	Het
Olfr1216	A	G	2: 89,014,043	V7A	probably damaging	Het
Olfr1228	C	T	2: 89,249,417	M92I	probably benign	Het
Olfr164	A	T	16: 19,286,059	V228D	probably damaging	Het
Olfr239	T	C	17: 33,199,777	F239S	probably damaging	Het
Olfr457	A	T	6: 42,471,287	V297E	possibly damaging	Het
Olfr589	G	A	7: 103,155,735	P4L	probably benign	Het
Olfr727	T	C	14: 50,127,012	V145A	possibly damaging	Het
Olfr822	T	C	10: 130,074,593	L61P	probably damaging	Het
Pcdhb14	T	A	18: 37,450,170	N776K	probably benign	Het
Pip5k1c	G	A	10: 81,310,889		probably null	Het
Plk4	G	A	3: 40,802,077		probably null	Het
Prmt8	A	G	6: 127,711,163	Y231H	possibly damaging	Het
Prpf4b	T	C	13: 34,883,599		probably benign	Het
Ptpn21	G	A	12: 98,679,407	R1091C	probably damaging	Het
Pwwp2b	C	T	7: 139,255,578	P312S	possibly damaging	Het
Rad21	A	T	15: 51,966,706	I503K	probably benign	Het
Rai14	A	G	15: 10,574,506	S789P	probably damaging	Het
Rbm26	C	T	14: 105,144,252	D486N	probably damaging	Het
Rnf20	A	G	4: 49,642,016		probably benign	Het
Ros1	A	G	10: 52,124,075	V1118A	possibly damaging	Het
Sema3d	A	C	5: 12,584,956	Y663S	probably damaging	Het
Serpina6	A	G	12: 103,651,712	W281R	probably damaging	Het
Slc8a3	A	G	12: 81,199,558	V900A	probably damaging	Het
Spats2l	G	T	1: 57,879,556	V30L	probably damaging	Het
Spg21	A	G	9: 65,475,949	D139G	probably damaging	Het
Sun3	T	C	11: 9,038,314	T3A	probably damaging	Het
Tcrg-V1	T	A	13: 19,340,231	S42T	probably benign	Het
Tep1	A	G	14: 50,828,999	Y2335H	probably benign	Het
Timm21	C	A	18: 84,949,414	V112L	possibly damaging	Het
Tlk1	A	T	2: 70,742,065	N386K	probably benign	Het
Trappc10	G	T	10: 78,217,160	F260L	possibly damaging	Het
Trmt112	T	C	19: 6,910,753	V91A	probably benign	Het
Ucp2	A	T	7: 100,498,372	N186I	possibly damaging	Het
Vmn1r119	A	G	7: 21,012,320	S46P	probably benign	Het
Vmn2r101	A	T	17: 19,611,387		probably null	Het
Vmn2r105	T	A	17: 20,208,414	H800L	probably damaging	Het
Vmn2r69	T	C	7: 85,411,159	M406V	possibly damaging	Het
Vmn2r84	A	G	10: 130,386,548	L601P	probably damaging	Het
Vps16	A	G	2: 130,439,452	S235G	probably benign	Het
Wap	T	C	11: 6,637,339		probably benign	Het
Wdr11	A	G	7: 129,624,711	I744M	probably benign	Het
Xiap	T	C	X: 42,094,465	F23L	probably benign	Het
Xkr7	A	G	2: 153,054,380	T385A	probably benign	Het
Zfp524	A	T	7: 5,018,417	I315F	probably benign	Het
Zfp62	T	A	11: 49,215,729	S216T	probably damaging	Het
Znfx1	T	C	2: 167,039,826	Y217C	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
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
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'- CATTGAGTGCACAGTGTTTATCAG -3'
(R):5'- AGGCCCAAAGTATGCTCAC -3'

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

Posted On

2016-06-06