Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02895:Atf7ip'

363378

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atf7ip

Ensembl Gene

ENSMUSG00000030213

Gene Name

activating transcription factor 7 interacting protein

Synonyms

ATFa-associated Modulator, AM, 2610204M12Rik, Mcaf1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

IGL02895

Quality Score

Status

Chromosome

Chromosomal Location

136495787-136587848 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 136537686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 306 (S306R)

Ref Sequence

ENSEMBL: ENSMUSP00000140458 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032335] [ENSMUST00000185724] [ENSMUST00000186577] [ENSMUST00000186742] [ENSMUST00000187429] [ENSMUST00000189535] [ENSMUST00000203988]

AlphaFold

Q7TT18

Predicted Effect

probably damaging
Transcript: ENSMUST00000032335
AA Change: S306R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032335
Gene: ENSMUSG00000030213
AA Change: S306R

Domain	Start	End	E-Value	Type
internal_repeat_1	123	144	9.59e-5	PROSPERO
internal_repeat_1	143	164	9.59e-5	PROSPERO
low complexity region	184	212	N/A	INTRINSIC
low complexity region	246	262	N/A	INTRINSIC
low complexity region	284	303	N/A	INTRINSIC
low complexity region	409	427	N/A	INTRINSIC
low complexity region	567	582	N/A	INTRINSIC
Pfam:ATF7IP_BD	598	813	5.5e-62	PFAM
low complexity region	864	889	N/A	INTRINSIC
PDB:2RPQ\|B	974	1017	5e-7	PDB
low complexity region	1022	1036	N/A	INTRINSIC
low complexity region	1038	1050	N/A	INTRINSIC
low complexity region	1101	1112	N/A	INTRINSIC
low complexity region	1168	1192	N/A	INTRINSIC
FN3	1194	1288	3.4e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000185724
AA Change: S306R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140458
Gene: ENSMUSG00000030213
AA Change: S306R

Domain	Start	End	E-Value	Type
low complexity region	184	212	N/A	INTRINSIC
low complexity region	246	262	N/A	INTRINSIC
low complexity region	284	303	N/A	INTRINSIC
low complexity region	409	427	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186577

SMART Domains

Protein: ENSMUSP00000140121
Gene: ENSMUSG00000030213

Domain	Start	End	E-Value	Type
coiled coil region	71	101	N/A	INTRINSIC
low complexity region	106	116	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186742

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187429
AA Change: S314R

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140502
Gene: ENSMUSG00000030213
AA Change: S314R

Domain	Start	End	E-Value	Type
internal_repeat_1	123	144	8.96e-5	PROSPERO
internal_repeat_1	143	164	8.96e-5	PROSPERO
low complexity region	184	212	N/A	INTRINSIC
low complexity region	246	262	N/A	INTRINSIC
low complexity region	284	303	N/A	INTRINSIC
low complexity region	409	427	N/A	INTRINSIC
low complexity region	567	582	N/A	INTRINSIC
coiled coil region	666	696	N/A	INTRINSIC
low complexity region	701	711	N/A	INTRINSIC
low complexity region	753	768	N/A	INTRINSIC
low complexity region	774	803	N/A	INTRINSIC
low complexity region	864	889	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189535

Predicted Effect

probably benign
Transcript: ENSMUST00000203178

Predicted Effect

probably benign
Transcript: ENSMUST00000203988

SMART Domains

Protein: ENSMUSP00000145022
Gene: ENSMUSG00000030213

Domain	Start	End	E-Value	Type
Pfam:ATF7IP_BD	3	73	1.6e-26	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ATF7IP is a multifunctional nuclear protein that associates with heterochromatin. It can act as a transcriptional coactivator or corepressor depending upon its binding partners (summary by Liu et al., 2009 [PubMed 19106100]).[supplied by OMIM, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	C	T	1: 179,621,376 (GRCm39)	E130K	probably damaging	Het
Cpd	A	G	11: 76,676,029 (GRCm39)	V1208A	probably benign	Het
Cplane1	A	G	15: 8,261,591 (GRCm39)		probably benign	Het
Ctsl	C	T	13: 64,514,326 (GRCm39)	A195T	probably damaging	Het
Dennd2c	T	C	3: 103,044,519 (GRCm39)	Y367H	possibly damaging	Het
Endod1	T	A	9: 14,268,166 (GRCm39)	T440S	probably benign	Het
Gm12695	T	C	4: 96,612,186 (GRCm39)	R526G	probably damaging	Het
Ighv1-39	T	C	12: 114,878,302 (GRCm39)	T90A	probably damaging	Het
Kdm2a	G	A	19: 4,412,930 (GRCm39)	R19C	probably damaging	Het
Klra1	C	T	6: 130,352,203 (GRCm39)	E180K	possibly damaging	Het
Odam	A	G	5: 88,033,723 (GRCm39)	Q21R	probably benign	Het
Or4c11c	A	G	2: 88,661,986 (GRCm39)	Y175C	probably damaging	Het
Or8b8	G	A	9: 37,809,278 (GRCm39)	V193I	probably benign	Het
Plk1	A	G	7: 121,768,389 (GRCm39)	E504G	possibly damaging	Het
Rtl3	T	C	X: 105,883,150 (GRCm39)	I37M	possibly damaging	Het
Srebf2	A	G	15: 82,031,668 (GRCm39)	E22G	possibly damaging	Het
Tmem74b	A	G	2: 151,548,311 (GRCm39)	S13G	probably benign	Het
Utp14b	T	C	1: 78,642,324 (GRCm39)	V74A	possibly damaging	Het
Znrf3	T	C	11: 5,239,085 (GRCm39)	M93V	probably damaging	Het

Other mutations in Atf7ip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00844:Atf7ip	APN	6	136,537,679 (GRCm39)	missense	probably benign	0.00
IGL01483:Atf7ip	APN	6	136,564,457 (GRCm39)	missense	probably damaging	1.00
IGL02313:Atf7ip	APN	6	136,583,718 (GRCm39)	missense	probably damaging	0.99
IGL02319:Atf7ip	APN	6	136,570,116 (GRCm39)	missense	probably benign	0.01
IGL02547:Atf7ip	APN	6	136,580,274 (GRCm39)	splice site	probably benign
IGL02869:Atf7ip	APN	6	136,583,577 (GRCm39)	missense	probably damaging	0.99
IGL02967:Atf7ip	APN	6	136,583,725 (GRCm39)	missense	probably damaging	0.98
IGL03026:Atf7ip	APN	6	136,582,380 (GRCm39)	missense	possibly damaging	0.79
fuegado	UTSW	6	136,537,708 (GRCm39)	missense	probably benign
Outtahere	UTSW	6	136,542,104 (GRCm39)	missense	probably damaging	1.00
Severance	UTSW	6	136,536,814 (GRCm39)	missense	probably damaging	1.00
R0024:Atf7ip	UTSW	6	136,576,818 (GRCm39)	splice site	probably benign
R0045:Atf7ip	UTSW	6	136,536,814 (GRCm39)	missense	probably damaging	1.00
R0045:Atf7ip	UTSW	6	136,536,814 (GRCm39)	missense	probably damaging	1.00
R0325:Atf7ip	UTSW	6	136,537,987 (GRCm39)	missense	possibly damaging	0.86
R0331:Atf7ip	UTSW	6	136,538,161 (GRCm39)	missense	possibly damaging	0.94
R0415:Atf7ip	UTSW	6	136,537,010 (GRCm39)	missense	possibly damaging	0.92
R0490:Atf7ip	UTSW	6	136,586,190 (GRCm39)	unclassified	probably benign
R0526:Atf7ip	UTSW	6	136,536,803 (GRCm39)	missense	probably damaging	1.00
R1503:Atf7ip	UTSW	6	136,583,865 (GRCm39)	missense	probably damaging	0.96
R1663:Atf7ip	UTSW	6	136,580,322 (GRCm39)	missense	possibly damaging	0.93
R1793:Atf7ip	UTSW	6	136,586,217 (GRCm39)	unclassified	probably benign
R1822:Atf7ip	UTSW	6	136,564,258 (GRCm39)	missense	probably benign	0.11
R1873:Atf7ip	UTSW	6	136,536,886 (GRCm39)	missense	probably damaging	1.00
R1937:Atf7ip	UTSW	6	136,537,778 (GRCm39)	missense	probably benign	0.41
R2059:Atf7ip	UTSW	6	136,586,346 (GRCm39)	unclassified	probably benign
R2134:Atf7ip	UTSW	6	136,582,485 (GRCm39)	missense	possibly damaging	0.80
R2679:Atf7ip	UTSW	6	136,543,649 (GRCm39)	missense	possibly damaging	0.62
R3430:Atf7ip	UTSW	6	136,552,322 (GRCm39)	unclassified	probably benign
R3755:Atf7ip	UTSW	6	136,537,815 (GRCm39)	missense	probably benign	0.01
R3756:Atf7ip	UTSW	6	136,537,815 (GRCm39)	missense	probably benign	0.01
R3890:Atf7ip	UTSW	6	136,564,043 (GRCm39)	missense	possibly damaging	0.48
R4190:Atf7ip	UTSW	6	136,564,499 (GRCm39)	missense	probably damaging	1.00
R4494:Atf7ip	UTSW	6	136,540,747 (GRCm39)	splice site	probably null
R4588:Atf7ip	UTSW	6	136,576,692 (GRCm39)	missense	probably benign
R4618:Atf7ip	UTSW	6	136,542,104 (GRCm39)	missense	probably damaging	1.00
R4705:Atf7ip	UTSW	6	136,538,192 (GRCm39)	missense	probably damaging	1.00
R4838:Atf7ip	UTSW	6	136,573,489 (GRCm39)	missense	probably benign	0.06
R4922:Atf7ip	UTSW	6	136,537,039 (GRCm39)	missense	possibly damaging	0.91
R4956:Atf7ip	UTSW	6	136,583,808 (GRCm39)	missense	probably damaging	1.00
R4957:Atf7ip	UTSW	6	136,583,808 (GRCm39)	missense	probably damaging	1.00
R4958:Atf7ip	UTSW	6	136,583,808 (GRCm39)	missense	probably damaging	1.00
R5000:Atf7ip	UTSW	6	136,559,426 (GRCm39)	missense	probably damaging	1.00
R5001:Atf7ip	UTSW	6	136,538,386 (GRCm39)	missense	probably damaging	0.99
R5075:Atf7ip	UTSW	6	136,537,232 (GRCm39)	missense	probably benign
R5279:Atf7ip	UTSW	6	136,580,377 (GRCm39)	nonsense	probably null
R5445:Atf7ip	UTSW	6	136,564,255 (GRCm39)	missense	probably damaging	1.00
R5844:Atf7ip	UTSW	6	136,583,812 (GRCm39)	missense	probably damaging	1.00
R5850:Atf7ip	UTSW	6	136,543,785 (GRCm39)	critical splice donor site	probably null
R5891:Atf7ip	UTSW	6	136,536,975 (GRCm39)	missense	possibly damaging	0.64
R5987:Atf7ip	UTSW	6	136,548,500 (GRCm39)	missense	probably damaging	1.00
R6168:Atf7ip	UTSW	6	136,536,817 (GRCm39)	missense	probably damaging	1.00
R6726:Atf7ip	UTSW	6	136,559,389 (GRCm39)	missense	probably damaging	1.00
R6880:Atf7ip	UTSW	6	136,538,038 (GRCm39)	missense	probably damaging	1.00
R6924:Atf7ip	UTSW	6	136,536,755 (GRCm39)	splice site	probably null
R7075:Atf7ip	UTSW	6	136,573,513 (GRCm39)	critical splice donor site	probably null
R7308:Atf7ip	UTSW	6	136,542,087 (GRCm39)	missense	probably benign	0.01
R7365:Atf7ip	UTSW	6	136,537,708 (GRCm39)	missense	probably benign
R7556:Atf7ip	UTSW	6	136,538,239 (GRCm39)	missense	probably damaging	0.99
R7812:Atf7ip	UTSW	6	136,580,415 (GRCm39)	missense	probably damaging	0.96
R7973:Atf7ip	UTSW	6	136,538,062 (GRCm39)	nonsense	probably null
R8032:Atf7ip	UTSW	6	136,542,110 (GRCm39)	missense	probably benign	0.00
R8203:Atf7ip	UTSW	6	136,583,781 (GRCm39)	missense	probably damaging	0.99
R8274:Atf7ip	UTSW	6	136,537,988 (GRCm39)	missense	probably benign
R8784:Atf7ip	UTSW	6	136,576,648 (GRCm39)	missense	probably damaging	0.99
R8785:Atf7ip	UTSW	6	136,564,162 (GRCm39)	missense	probably damaging	0.97
R8885:Atf7ip	UTSW	6	136,564,141 (GRCm39)	missense	probably benign	0.06
R8957:Atf7ip	UTSW	6	136,543,701 (GRCm39)	missense	probably null	0.99
R9042:Atf7ip	UTSW	6	136,538,263 (GRCm39)	nonsense	probably null
R9531:Atf7ip	UTSW	6	136,537,875 (GRCm39)	missense	probably benign	0.00

Posted On

2015-12-18