Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00546:Adnp2'

8630

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adnp2

Ensembl Gene

ENSMUSG00000053950

Gene Name

ADNP homeobox 2

Synonyms

Zfp508, 8430420L05Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00546

Quality Score

Status

Chromosome

Chromosomal Location

80126311-80151482 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80128867 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 776 (T776A)

Ref Sequence

ENSEMBL: ENSMUSP00000068560 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066743]

Predicted Effect

probably benign
Transcript: ENSMUST00000066743
AA Change: T776A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000068560
Gene: ENSMUSG00000053950
AA Change: T776A

Domain	Start	End	E-Value	Type
ZnF_C2H2	73	96	4.57e0	SMART
ZnF_C2H2	106	128	1.06e2	SMART
ZnF_C2H2	155	178	5.48e0	SMART
ZnF_C2H2	215	240	7.29e0	SMART
low complexity region	277	290	N/A	INTRINSIC
low complexity region	298	318	N/A	INTRINSIC
low complexity region	333	355	N/A	INTRINSIC
low complexity region	545	567	N/A	INTRINSIC
low complexity region	625	648	N/A	INTRINSIC
low complexity region	656	674	N/A	INTRINSIC
ZnF_C2H2	696	718	9.96e0	SMART
ZnF_C2H2	724	746	4.99e1	SMART
low complexity region	747	761	N/A	INTRINSIC
ZnF_C2H2	777	798	1.93e2	SMART
ZnF_C2H2	800	823	4.34e0	SMART
ZnF_C2H2	905	928	5.81e-2	SMART
HOX	1073	1135	3.25e-4	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	T	C	17: 48,090,576	V127A	possibly damaging	Het
9130008F23Rik	C	A	17: 40,880,113	V142L	possibly damaging	Het
Arid4a	T	A	12: 71,075,671	V942E	probably benign	Het
Bdnf	C	T	2: 109,723,547	P89S	probably benign	Het
Camsap3	A	G	8: 3,602,077	D302G	probably damaging	Het
Cnot6	A	T	11: 49,685,266	S158T	probably benign	Het
Dbt	A	C	3: 116,539,281	K250Q	probably benign	Het
Exd2	A	G	12: 80,480,547	I171M	probably benign	Het
Gm5415	A	T	1: 32,546,667	M54K	probably benign	Het
Ints14	A	T	9: 64,972,792	N196I	probably benign	Het
Krt79	G	T	15: 101,929,873	N482K	probably benign	Het
Loxhd1	G	A	18: 77,405,976	A678T	probably damaging	Het
Mkl2	C	A	16: 13,403,222	A754D	probably benign	Het
Mkl2	T	G	16: 13,403,225	L766R	possibly damaging	Het
Mrpl51	A	G	6: 125,193,214		probably benign	Het
Nipsnap1	A	G	11: 4,889,098	E126G	possibly damaging	Het
Plxnb2	A	G	15: 89,162,366		probably benign	Het
Slc15a5	A	G	6: 138,043,538	Y266H	probably damaging	Het
Ttn	C	A	2: 76,867,473	D73Y	probably damaging	Het

Other mutations in Adnp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00730:Adnp2	APN	18	80128032	missense	probably benign
IGL01615:Adnp2	APN	18	80128477	missense	probably damaging	1.00
IGL01681:Adnp2	APN	18	80127888	missense	probably damaging	1.00
IGL02549:Adnp2	APN	18	80129118	missense	probably damaging	1.00
R0003:Adnp2	UTSW	18	80130990	missense	probably damaging	1.00
R0003:Adnp2	UTSW	18	80130990	missense	probably damaging	1.00
R0013:Adnp2	UTSW	18	80129745	missense	probably damaging	0.99
R0013:Adnp2	UTSW	18	80129745	missense	probably damaging	0.99
R0325:Adnp2	UTSW	18	80130653	missense	probably benign	0.06
R0478:Adnp2	UTSW	18	80129334	missense	probably benign	0.31
R0545:Adnp2	UTSW	18	80129401	missense	probably benign	0.31
R0788:Adnp2	UTSW	18	80130004	missense	probably benign
R1756:Adnp2	UTSW	18	80127697	makesense	probably null
R2043:Adnp2	UTSW	18	80128326	missense	probably damaging	1.00
R2121:Adnp2	UTSW	18	80129170	missense	probably benign	0.00
R2260:Adnp2	UTSW	18	80128449	missense	probably benign	0.01
R2374:Adnp2	UTSW	18	80130987	missense	probably damaging	1.00
R3416:Adnp2	UTSW	18	80128158	missense	possibly damaging	0.55
R3607:Adnp2	UTSW	18	80129069	missense	probably damaging	1.00
R4012:Adnp2	UTSW	18	80130821	missense	probably benign	0.01
R4260:Adnp2	UTSW	18	80137527	missense	possibly damaging	0.85
R4588:Adnp2	UTSW	18	80128648	missense	probably benign	0.22
R5158:Adnp2	UTSW	18	80137543	missense	probably damaging	0.99
R5652:Adnp2	UTSW	18	80130850	missense	probably damaging	1.00
R5717:Adnp2	UTSW	18	80128264	missense	probably benign	0.13
R6743:Adnp2	UTSW	18	80128059	missense	probably benign	0.00
R6786:Adnp2	UTSW	18	80129745	missense	probably benign	0.03
R6903:Adnp2	UTSW	18	80130090	missense	probably benign
R7105:Adnp2	UTSW	18	80128151	missense	possibly damaging	0.94
R7507:Adnp2	UTSW	18	80130853	missense	probably benign	0.22
R7620:Adnp2	UTSW	18	80130487	missense	probably damaging	1.00

Posted On

2012-12-06