Mutagenetix > Incidental Mutation

Incidental Mutation 'R4958:Atf7ip'

381702

Institutional Source

Beutler Lab

Gene Symbol

Atf7ip

Ensembl Gene

ENSMUSG00000030213

Gene Name

activating transcription factor 7 interacting protein

Synonyms

ATFa-associated Modulator, AM, 2610204M12Rik, Mcaf1

MMRRC Submission

042555-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

R4958 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

136495787-136587848 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 136583808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 1280 (R1280C)

Ref Sequence

ENSEMBL: ENSMUSP00000032335 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032335]

AlphaFold

Q7TT18

Predicted Effect

probably damaging
Transcript: ENSMUST00000032335
AA Change: R1280C

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

SMART Domains

Protein: ENSMUSP00000032335
Gene: ENSMUSG00000030213
AA Change: R1280C

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

noncoding transcript
Transcript: ENSMUST00000185332

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd7	A	G	6: 18,866,722 (GRCm39)	S81G	probably benign	Het
Arel1	T	C	12: 84,973,078 (GRCm39)	K573R	possibly damaging	Het
Atp1a4	T	A	1: 172,058,718 (GRCm39)	D909V	probably damaging	Het
Cdh2	T	G	18: 16,760,622 (GRCm39)		probably null	Het
Col6a1	A	T	10: 76,559,339 (GRCm39)	I99N	probably damaging	Het
Dennd4c	A	G	4: 86,699,916 (GRCm39)	T256A	probably damaging	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Ereg	T	C	5: 91,237,970 (GRCm39)	V152A	probably damaging	Het
Gm4950	T	C	18: 51,998,641 (GRCm39)	T105A	probably benign	Het
Hsf2	T	C	10: 57,377,467 (GRCm39)	I121T	probably damaging	Het
Kmt2a	A	T	9: 44,759,764 (GRCm39)	L728Q	probably damaging	Het
Llgl1	G	T	11: 60,602,261 (GRCm39)	R768L	probably benign	Het
Lyst	A	G	13: 13,810,048 (GRCm39)	I573V	probably benign	Het
Macf1	G	T	4: 123,369,157 (GRCm39)	T303K	probably damaging	Het
Map3k5	A	T	10: 19,899,535 (GRCm39)	Q264L	possibly damaging	Het
Mboat1	T	C	13: 30,408,376 (GRCm39)	S180P	probably damaging	Het
Mfsd6	T	C	1: 52,700,183 (GRCm39)	D655G	probably damaging	Het
Myh2	A	G	11: 67,083,785 (GRCm39)	E1521G	possibly damaging	Het
Nsd2	T	A	5: 34,049,366 (GRCm39)	S1200R	probably damaging	Het
Or51k2	T	C	7: 103,595,808 (GRCm39)	F12L	probably damaging	Het
Or52n2b	T	C	7: 104,565,668 (GRCm39)	I278M	probably damaging	Het
Or6z3	G	A	7: 6,464,057 (GRCm39)	C183Y	probably damaging	Het
Or8h9	T	C	2: 86,789,449 (GRCm39)	M118V	possibly damaging	Het
Pbrm1	T	C	14: 30,796,784 (GRCm39)	I875T	probably damaging	Het
Pla2g1b	T	A	5: 115,608,885 (GRCm39)	F26I	probably damaging	Het
Plscr4	A	G	9: 92,366,814 (GRCm39)	N143D	possibly damaging	Het
Rab11fip1	G	T	8: 27,644,841 (GRCm39)	R315S	probably damaging	Het
Rptor	G	A	11: 119,748,217 (GRCm39)	R727Q	probably benign	Het
Serac1	A	T	17: 6,119,657 (GRCm39)	V91D	probably benign	Het
Slco1a6	C	A	6: 142,091,431 (GRCm39)	G90C	probably damaging	Het
Sulf1	A	G	1: 12,867,134 (GRCm39)	Y106C	probably benign	Het
Syt13	G	A	2: 92,783,794 (GRCm39)	V355M	probably damaging	Het
Tjp1	G	A	7: 64,985,850 (GRCm39)	R314*	probably null	Het
Tshr	A	G	12: 91,504,961 (GRCm39)	D633G	probably damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Znrf4	A	G	17: 56,818,701 (GRCm39)	F202S	probably damaging	Het
Zswim8	T	A	14: 20,763,533 (GRCm39)	W427R	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
IGL02895:Atf7ip	APN	6	136,537,686 (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
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

Predicted Primers

PCR Primer
(F):5'- CAGAATGGCATTGTTCTGTCG -3'
(R):5'- GGGAGATCTTGCACAAGGTG -3'

Sequencing Primer
(F):5'- TCCTGGAAGTGGACCGAAGC -3'
(R):5'- CTTGCACAAGGTGGATTTTTACAG -3'

Posted On

2016-04-27