Mutagenetix > Incidental Mutation

Incidental Mutation 'R4190:Atf7ip'

319911

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

041021-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.912) question?

Stock #

R4190 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136495787-136587848 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136564499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 914 (V914A)

Ref Sequence

ENSEMBL: ENSMUSP00000140502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032335] [ENSMUST00000187429]

AlphaFold

Q7TT18

Predicted Effect

probably benign
Transcript: ENSMUST00000032335
AA Change: V906A

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000032335
Gene: ENSMUSG00000030213
AA Change: V906A

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: ENSMUST00000187429
AA Change: V914A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140502
Gene: ENSMUSG00000030213
AA Change: V914A

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

Meta Mutation Damage Score

0.1262

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

96% (50/52)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot4	T	C	12: 84,089,948 (GRCm39)		probably benign	Het
Adgre1	A	G	17: 57,709,811 (GRCm39)	Y156C	unknown	Het
Ankrd13b	G	A	11: 77,367,201 (GRCm39)	A21V	probably damaging	Het
C230029F24Rik	AGAAAG	A	1: 49,350,088 (GRCm39)		noncoding transcript	Het
Calcr	T	A	6: 3,717,106 (GRCm39)	D118V	possibly damaging	Het
Cdc42bpg	T	C	19: 6,371,711 (GRCm39)	V1330A	probably damaging	Het
Cfap54	T	C	10: 92,720,885 (GRCm39)	E2567G	unknown	Het
Ctse	T	A	1: 131,590,479 (GRCm39)	V67D	probably benign	Het
Ddx19b	A	T	8: 111,737,980 (GRCm39)	L256Q	probably damaging	Het
Dipk1b	T	C	2: 26,526,193 (GRCm39)	Y376H	probably damaging	Het
Fahd2a	C	T	2: 127,280,486 (GRCm39)	V156I	probably benign	Het
Fam185a	T	A	5: 21,630,122 (GRCm39)		probably benign	Het
Fam234a	A	T	17: 26,432,834 (GRCm39)	L467Q	probably damaging	Het
Gabra2	G	A	5: 71,165,341 (GRCm39)	P210S	probably benign	Het
Heatr3	T	C	8: 88,864,888 (GRCm39)		probably benign	Het
Herc2	T	C	7: 55,772,196 (GRCm39)	V1125A	probably benign	Het
Itga11	T	A	9: 62,639,391 (GRCm39)	C129S	probably damaging	Het
Lama2	A	G	10: 27,142,660 (GRCm39)	L606P	probably damaging	Het
Macf1	A	G	4: 123,366,835 (GRCm39)	F1077S	possibly damaging	Het
Mtmr10	G	T	7: 63,963,934 (GRCm39)	W223L	probably benign	Het
Nlgn1	T	A	3: 25,488,062 (GRCm39)	T758S	probably benign	Het
Nr4a1	T	C	15: 101,171,993 (GRCm39)	S556P	probably damaging	Het
Or4c126	C	A	2: 89,823,918 (GRCm39)	Y60*	probably null	Het
Or5p64	T	C	7: 107,855,330 (GRCm39)	D5G	probably benign	Het
Or6c201	T	C	10: 128,968,836 (GRCm39)	N267S	possibly damaging	Het
Or6c33	A	T	10: 129,853,847 (GRCm39)	I206F	probably damaging	Het
Pcdhgb8	G	C	18: 37,896,594 (GRCm39)	D555H	probably damaging	Het
Plscr5	T	C	9: 92,080,651 (GRCm39)	S46P	probably benign	Het
Ppp2r3d	T	C	9: 124,424,123 (GRCm38)		probably benign	Het
Prodh	C	T	16: 17,891,504 (GRCm39)	V480I	probably benign	Het
Senp2	G	T	16: 21,865,417 (GRCm39)	W580L	probably damaging	Het
Sorcs3	T	C	19: 48,737,812 (GRCm39)	V743A	possibly damaging	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Stab2	G	T	10: 86,714,808 (GRCm39)	N119K	probably damaging	Het
Telo2	T	C	17: 25,320,987 (GRCm39)	T743A	probably benign	Het
Trav6-1	A	G	14: 52,875,976 (GRCm39)	N2S	probably benign	Het
Trmt44	C	A	5: 35,732,314 (GRCm39)	V26L	possibly damaging	Het
Ttbk1	A	T	17: 46,790,173 (GRCm39)	C91S	probably damaging	Het
Vit	A	G	17: 78,894,255 (GRCm39)	H219R	probably benign	Het
Vmn2r84	A	T	10: 130,227,163 (GRCm39)	L225*	probably null	Het
Vmn2r87	A	G	10: 130,308,556 (GRCm39)	Y561H	probably damaging	Het
Yars1	T	A	4: 129,093,820 (GRCm39)	C60*	probably null	Het
Zfp202	T	C	9: 40,122,633 (GRCm39)	V465A	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CTGCAAAGTCATCCAGGGAC -3'
(R):5'- CAATTCTTGGGGTGGCAGAG -3'

Sequencing Primer
(F):5'- AGTCATCCAGGGACTTTAGTGACC -3'
(R):5'- CAGAGCTATTTTGTTCTGCTGAAG -3'

Posted On

2015-06-10