Mutagenetix > Incidental Mutation

Incidental Mutation 'R9205:Aebp2'

698441

Institutional Source

Beutler Lab

Gene Symbol

Aebp2

Ensembl Gene

ENSMUSG00000030232

Gene Name

AE binding protein 2

Synonyms

B230313N05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9205 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140622663-140678472 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140642228 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 341 (H341Q)

Ref Sequence

ENSEMBL: ENSMUSP00000092993 (fasta)

Gene Model

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

AlphaFold

Q9Z248

Predicted Effect

probably damaging
Transcript: ENSMUST00000032359
AA Change: H119Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032359
Gene: ENSMUSG00000030232
AA Change: H119Q

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 damaging
Transcript: ENSMUST00000087614
AA Change: H341Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000084896
Gene: ENSMUSG00000030232
AA Change: H341Q

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 damaging
Transcript: ENSMUST00000095350
AA Change: H341Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092993
Gene: ENSMUSG00000030232
AA Change: H341Q

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 damaging
Transcript: ENSMUST00000160836
AA Change: H119Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124148
Gene: ENSMUSG00000030232
AA Change: H119Q

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 damaging
Transcript: ENSMUST00000161335
AA Change: H119Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125479
Gene: ENSMUSG00000030232
AA Change: H119Q

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

SMART Domains

Protein: ENSMUSP00000123897
Gene: ENSMUSG00000030232
AA Change: H24Q

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

0.8843

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.3%

Validation Efficiency

95% (76/80)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apob	G	A	12: 7,980,635	A125T	probably damaging	Het
Bace2	G	T	16: 97,356,859	A20S	unknown	Het
Bcar1	T	C	8: 111,715,709	Y238C	probably damaging	Het
Brinp3	A	T	1: 146,902,089	D758V	possibly damaging	Het
Btnl10	T	C	11: 58,920,519	S223P	probably damaging	Het
Cckar	C	T	5: 53,707,245		probably null	Het
Cdhr2	A	G	13: 54,713,988	N66S	probably benign	Het
Chd9	A	G	8: 91,030,642	M1890V	probably benign	Het
Col6a5	C	T	9: 105,878,638	G2196R	probably damaging	Het
Col9a1	T	G	1: 24,185,094	M119R	unknown	Het
Cryaa	A	G	17: 31,679,668	H123R	probably damaging	Het
Cux1	A	T	5: 136,370,135	D171E	probably damaging	Het
Dgkz	T	A	2: 91,933,799	T1067S	probably benign	Het
Dnah11	C	T	12: 118,027,516	E2372K	probably damaging	Het
Dnah5	T	C	15: 28,448,334	M4181T	possibly damaging	Het
Dnajb14	A	G	3: 137,908,384	E352G	possibly damaging	Het
Dnmt3l	T	A	10: 78,056,752		probably null	Het
Dph6	T	C	2: 114,569,514	I117V	probably damaging	Het
Dsg1a	A	G	18: 20,340,171	D767G	probably damaging	Het
Edn3	C	T	2: 174,761,689	P77S	possibly damaging	Het
Elmsan1	A	C	12: 84,152,887	F1020V	probably benign	Het
Fbln7	A	C	2: 128,895,248	S328R	probably null	Het
Fbn2	T	C	18: 58,059,356	R1518G	probably damaging	Het
Foxi2	A	T	7: 135,411,796	T252S	probably benign	Het
Foxred2	A	G	15: 77,952,006	S384P	probably damaging	Het
Gdpd1	G	A	11: 87,045,183	H174Y	probably benign	Het
Gm10542	A	C	18: 44,204,638	D61A	possibly damaging	Het
Gm10563	TTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	4: 155,635,850		probably benign	Het
H2-Ab1	A	G	17: 34,265,007	E114G	probably damaging	Het
Htt	C	T	5: 34,819,023	T723M	probably benign	Het
Igfn1	C	T	1: 135,975,957	V348I	probably damaging	Het
Itpr1	T	A	6: 108,489,849	L2173Q	probably damaging	Het
Lamp5	A	G	2: 136,059,601	Y115C	probably damaging	Het
Lrp1	T	A	10: 127,594,981	K400*	probably null	Het
Man2a2	C	T	7: 80,361,120	V708I	probably benign	Het
Matr3	T	C	18: 35,587,721	S746P	probably benign	Het
Me1	C	T	9: 86,598,794	V353M	probably benign	Het
Nbeal1	T	A	1: 60,278,680	D1925E	probably damaging	Het
Oca2	T	A	7: 56,316,420	F387I	probably damaging	Het
Olfr1163	T	A	2: 88,070,434	H316L	probably benign	Het
Olfr181	T	G	16: 58,926,122	I150L	probably benign	Het
Olfr181	G	T	16: 58,926,123	F149L	probably benign	Het
Olfr212	T	A	6: 116,516,354	N192K	probably benign	Het
Olfr420	T	C	1: 174,158,890	I39T	probably benign	Het
Olfr912	T	A	9: 38,582,077	S267T	probably benign	Het
Opn3	G	T	1: 175,663,089	N335K	probably benign	Het
Osm	A	G	11: 4,238,504	N44D	possibly damaging	Het
Otop2	T	C	11: 115,329,086	Y251H	probably damaging	Het
Pappa	T	C	4: 65,156,375	S389P	possibly damaging	Het
Polr1d	C	T	5: 147,101,258	A19V	probably damaging	Het
Ptchd4	G	A	17: 42,503,385	V726M	probably benign	Het
Pzp	T	A	6: 128,496,663	D731V	probably benign	Het
Rgl2	A	T	17: 33,936,028	I669F	probably damaging	Het
Rpl38	T	C	11: 114,672,288	*71R	probably null	Het
Rufy1	G	A	11: 50,398,474	R514W	probably damaging	Het
Ruvbl2	G	A	7: 45,434,317		probably benign	Het
Scn9a	T	G	2: 66,533,313	I874L	probably damaging	Het
Slc14a2	A	G	18: 78,195,736	S85P	probably benign	Het
Slc17a1	A	G	13: 23,878,811	I287V	probably benign	Het
Slc35f3	T	A	8: 126,389,189	I285N	probably damaging	Het
Slx4	A	G	16: 3,988,063	S542P	possibly damaging	Het
Sox30	A	T	11: 46,017,353	L782F	probably damaging	Het
Sspo	A	G	6: 48,455,872	N894S	probably benign	Het
Syne1	G	A	10: 5,202,013	Q5765*	probably null	Het
Taar7e	T	C	10: 24,038,074	I154T	probably benign	Het
Tars	A	G	15: 11,397,179		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,160,856		probably null	Het
Tmem198b	A	T	10: 128,803,188	C29S	probably damaging	Het
Tnr	A	C	1: 159,895,047	M1021L	probably benign	Het
Tom1l1	G	A	11: 90,657,818	P309L	probably damaging	Het
Traf4	A	G	11: 78,161,101	S186P	probably benign	Het
Trpm1	T	G	7: 64,240,571	V974G	possibly damaging	Het
Tsga10	T	A	1: 37,841,278		probably benign	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Vmn2r93	A	T	17: 18,304,019	I92F	probably damaging	Het
Zfp457	A	T	13: 67,293,901	D203E	probably benign	Het
Zfp518b	G	A	5: 38,674,158	S168F	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600		probably benign	Het
Zfp777	G	A	6: 48,025,587	T523M	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
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
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'- ACTGCCAAGAGGTGCACTAG -3'
(R):5'- CTAGAGTCTCATTCTTTTCCCACAGAG -3'

Sequencing Primer
(F):5'- CCAAGAGGTGCACTAGTTAAATAAC -3'
(R):5'- TCCCACAGAGACTTTTCTAAGTGAGC -3'

Posted On

2022-02-07