Mutagenetix > Incidental Mutation

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

8430420L05Rik, Zfp508

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00546

Quality Score

Status

Chromosome

Chromosomal Location

80169526-80194697 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80172082 bp (GRCm39)

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]

AlphaFold

Q8CHC8

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: 48,401,096 (GRCm39)	V127A	possibly damaging	Het
9130008F23Rik	C	A	17: 41,191,004 (GRCm39)	V142L	possibly damaging	Het
Arid4a	T	A	12: 71,122,445 (GRCm39)	V942E	probably benign	Het
Bdnf	C	T	2: 109,553,892 (GRCm39)	P89S	probably benign	Het
Camsap3	A	G	8: 3,652,077 (GRCm39)	D302G	probably damaging	Het
Cnot6	A	T	11: 49,576,093 (GRCm39)	S158T	probably benign	Het
Dbt	A	C	3: 116,332,930 (GRCm39)	K250Q	probably benign	Het
Exd2	A	G	12: 80,527,321 (GRCm39)	I171M	probably benign	Het
Ints14	A	T	9: 64,880,074 (GRCm39)	N196I	probably benign	Het
Krt79	G	T	15: 101,838,308 (GRCm39)	N482K	probably benign	Het
Loxhd1	G	A	18: 77,493,672 (GRCm39)	A678T	probably damaging	Het
Mrpl51	A	G	6: 125,170,177 (GRCm39)		probably benign	Het
Mrtfb	C	A	16: 13,221,086 (GRCm39)	A754D	probably benign	Het
Mrtfb	T	G	16: 13,221,089 (GRCm39)	L766R	possibly damaging	Het
Nipsnap1	A	G	11: 4,839,098 (GRCm39)	E126G	possibly damaging	Het
Plxnb2	A	G	15: 89,046,569 (GRCm39)		probably benign	Het
Semp2l1	A	T	1: 32,585,748 (GRCm39)	M54K	probably benign	Het
Slc15a5	A	G	6: 138,020,536 (GRCm39)	Y266H	probably damaging	Het
Ttn	C	A	2: 76,697,817 (GRCm39)	D73Y	probably damaging	Het

Other mutations in Adnp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00730:Adnp2	APN	18	80,171,247 (GRCm39)	missense	probably benign
IGL01615:Adnp2	APN	18	80,171,692 (GRCm39)	missense	probably damaging	1.00
IGL01681:Adnp2	APN	18	80,171,103 (GRCm39)	missense	probably damaging	1.00
IGL02549:Adnp2	APN	18	80,172,333 (GRCm39)	missense	probably damaging	1.00
R0003:Adnp2	UTSW	18	80,174,205 (GRCm39)	missense	probably damaging	1.00
R0003:Adnp2	UTSW	18	80,174,205 (GRCm39)	missense	probably damaging	1.00
R0013:Adnp2	UTSW	18	80,172,960 (GRCm39)	missense	probably damaging	0.99
R0013:Adnp2	UTSW	18	80,172,960 (GRCm39)	missense	probably damaging	0.99
R0325:Adnp2	UTSW	18	80,173,868 (GRCm39)	missense	probably benign	0.06
R0478:Adnp2	UTSW	18	80,172,549 (GRCm39)	missense	probably benign	0.31
R0545:Adnp2	UTSW	18	80,172,616 (GRCm39)	missense	probably benign	0.31
R0788:Adnp2	UTSW	18	80,173,219 (GRCm39)	missense	probably benign
R1756:Adnp2	UTSW	18	80,170,912 (GRCm39)	makesense	probably null
R2043:Adnp2	UTSW	18	80,171,541 (GRCm39)	missense	probably damaging	1.00
R2121:Adnp2	UTSW	18	80,172,385 (GRCm39)	missense	probably benign	0.00
R2260:Adnp2	UTSW	18	80,171,664 (GRCm39)	missense	probably benign	0.01
R2374:Adnp2	UTSW	18	80,174,202 (GRCm39)	missense	probably damaging	1.00
R3416:Adnp2	UTSW	18	80,171,373 (GRCm39)	missense	possibly damaging	0.55
R3607:Adnp2	UTSW	18	80,172,284 (GRCm39)	missense	probably damaging	1.00
R4012:Adnp2	UTSW	18	80,174,036 (GRCm39)	missense	probably benign	0.01
R4260:Adnp2	UTSW	18	80,180,742 (GRCm39)	missense	possibly damaging	0.85
R4588:Adnp2	UTSW	18	80,171,863 (GRCm39)	missense	probably benign	0.22
R5158:Adnp2	UTSW	18	80,180,758 (GRCm39)	missense	probably damaging	0.99
R5652:Adnp2	UTSW	18	80,174,065 (GRCm39)	missense	probably damaging	1.00
R5717:Adnp2	UTSW	18	80,171,479 (GRCm39)	missense	probably benign	0.13
R6743:Adnp2	UTSW	18	80,171,274 (GRCm39)	missense	probably benign	0.00
R6786:Adnp2	UTSW	18	80,172,960 (GRCm39)	missense	probably benign	0.03
R6903:Adnp2	UTSW	18	80,173,305 (GRCm39)	missense	probably benign
R7105:Adnp2	UTSW	18	80,171,366 (GRCm39)	missense	possibly damaging	0.94
R7507:Adnp2	UTSW	18	80,174,068 (GRCm39)	missense	probably benign	0.22
R7620:Adnp2	UTSW	18	80,173,702 (GRCm39)	missense	probably damaging	1.00
R7914:Adnp2	UTSW	18	80,174,056 (GRCm39)	missense	probably damaging	0.96
R7991:Adnp2	UTSW	18	80,172,537 (GRCm39)	missense	probably damaging	0.97
R8290:Adnp2	UTSW	18	80,185,948 (GRCm39)	missense	probably damaging	1.00
R8366:Adnp2	UTSW	18	80,173,725 (GRCm39)	missense	probably damaging	1.00
R8712:Adnp2	UTSW	18	80,174,185 (GRCm39)	missense	probably damaging	1.00
R8742:Adnp2	UTSW	18	80,171,556 (GRCm39)	missense	probably damaging	1.00
R8932:Adnp2	UTSW	18	80,185,893 (GRCm39)	missense	probably damaging	1.00
R9108:Adnp2	UTSW	18	80,185,925 (GRCm39)	missense	probably damaging	1.00
R9163:Adnp2	UTSW	18	80,172,200 (GRCm39)	missense	possibly damaging	0.82
R9378:Adnp2	UTSW	18	80,172,637 (GRCm39)	missense	probably benign	0.00
R9567:Adnp2	UTSW	18	80,174,133 (GRCm39)	missense	probably damaging	1.00
R9664:Adnp2	UTSW	18	80,185,937 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06