Mutagenetix > Incidental Mutations

Incidental Mutation 'R5891:Atf7ip'

457176

Institutional Source

Beutler Lab

Gene Symbol

Atf7ip

Ensembl Gene

ENSMUSG00000030213

Gene Name

activating transcription factor 7 interacting protein

Synonyms

Mcaf1, 2610204M12Rik, AM, ATFa-associated Modulator

MMRRC Submission

044092-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.849) question?

Stock #

R5891 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136506167-136610862 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 136559977 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 69 (E69D)

Ref Sequence

ENSEMBL: ENSMUSP00000140458 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000032335
AA Change: E69D

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000032335
Gene: ENSMUSG00000030213
AA Change: E69D

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

possibly damaging
Transcript: ENSMUST00000185724
AA Change: E69D

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140458
Gene: ENSMUSG00000030213
AA Change: E69D

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

probably benign
Transcript: ENSMUST00000187429
AA Change: E77D

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000140502
Gene: ENSMUSG00000030213
AA Change: E77D

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
AA Change: E69D

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195743

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

Meta Mutation Damage Score

0.0788

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

96% (85/89)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	G	15: 8,188,589	I828V	probably benign	Het
A430105I19Rik	T	A	2: 118,761,383	D92V	probably damaging	Het
Abi3bp	A	T	16: 56,606,133	T504S	probably damaging	Het
Adamtsl4	C	A	3: 95,682,313	R387L	possibly damaging	Het
Adgb	G	A	10: 10,377,847	Q1224*	probably null	Het
Ankrd40	T	A	11: 94,334,863	F240Y	probably damaging	Het
Asnsd1	A	T	1: 53,347,977	Y164N	probably benign	Het
Atm	T	C	9: 53,497,159	T1129A	probably benign	Het
AU021092	T	C	16: 5,212,131	D340G	probably benign	Het
Baz2a	T	A	10: 128,121,322	I978N	probably damaging	Het
BC034090	T	C	1: 155,233,047		probably benign	Het
Bcl9	A	G	3: 97,208,888	L830P	probably damaging	Het
Bicral	T	C	17: 46,801,229	N1015S	probably benign	Het
Ceacam3	C	A	7: 17,151,793	T107N	probably damaging	Het
Cep83	T	C	10: 94,725,675	V109A	probably benign	Het
Ces1e	A	G	8: 93,203,266	V463A	possibly damaging	Het
Ciao1	A	G	2: 127,247,134	V55A	probably benign	Het
Col19a1	T	C	1: 24,289,725	E900G	probably damaging	Het
Commd3	A	G	2: 18,673,815		probably benign	Het
Coro1c	A	G	5: 113,850,811	I157T	probably damaging	Het
Ctso	T	A	3: 81,954,254	F311L	probably benign	Het
Cxcl10	A	G	5: 92,348,224		probably benign	Het
Daam1	C	A	12: 71,944,149	T179N	unknown	Het
Ddx24	T	C	12: 103,424,058	K225E	probably damaging	Het
Dnajc16	T	C	4: 141,775,392	T278A	probably benign	Het
Dnajc2	A	T	5: 21,761,711	N345K	possibly damaging	Het
Dnpep	G	T	1: 75,311,812	Q395K	probably benign	Het
Dync1h1	T	C	12: 110,614,220		probably null	Het
Exoc1	A	G	5: 76,542,144	D177G	probably damaging	Het
Fam135b	C	T	15: 71,525,803	R136H	probably damaging	Het
Fam214a	C	G	9: 75,004,386	C46W	probably damaging	Het
Filip1	T	G	9: 79,819,860	L492F	possibly damaging	Het
Flvcr2	A	T	12: 85,796,228	I359F	possibly damaging	Het
Gmcl1	A	G	6: 86,707,443	W366R	probably damaging	Het
Htt	A	G	5: 34,870,823	T1808A	possibly damaging	Het
Ighv5-4	C	A	12: 113,597,629	R57L	probably damaging	Het
Il12rb2	A	T	6: 67,360,690	I69N	probably damaging	Het
Irf5	A	T	6: 29,529,425		probably benign	Het
Kif13b	T	G	14: 64,788,405		probably null	Het
Klkb1	T	A	8: 45,270,666	T571S	probably benign	Het
Mapkbp1	G	T	2: 120,023,932	E1337*	probably null	Het
Met	A	G	6: 17,491,539	D100G	probably benign	Het
Mgam	T	A	6: 40,744,348	D183E	probably benign	Het
Mrgprb13	T	C	7: 48,312,259		noncoding transcript	Het
Mrgprx2	T	C	7: 48,482,246	T275A	probably benign	Het
Mroh2a	C	A	1: 88,241,615	Q671K	possibly damaging	Het
Nckipsd	T	A	9: 108,808,609	S42R	probably damaging	Het
Nlrp12	T	A	7: 3,219,259		probably benign	Het
Olfr1297	A	T	2: 111,621,433	L214M	probably damaging	Het
Olfr361	T	A	2: 37,084,978	M257L	probably benign	Het
Olfr467	C	T	7: 107,815,180	P199S	probably damaging	Het
Olfr527	C	T	7: 140,336,600	T246I	probably benign	Het
Otoa	T	A	7: 121,132,360		probably null	Het
Pfkm	T	A	15: 98,122,690	C233*	probably null	Het
Pikfyve	A	G	1: 65,202,737	Y212C	probably damaging	Het
Ptprq	T	A	10: 107,576,895	D1781V	possibly damaging	Het
Pttg1ip	A	G	10: 77,582,440		probably benign	Het
Rab6a	T	A	7: 100,639,247		probably null	Het
Rbm11	C	T	16: 75,598,837	A132V	possibly damaging	Het
Sept4	G	T	11: 87,588,924		probably benign	Het
Serpinb8	A	G	1: 107,605,845	E210G	probably damaging	Het
Sertad2	G	A	11: 20,647,884	G27S	probably benign	Het
Slco5a1	A	G	1: 12,990,402	F32L	probably benign	Het
Smad2	A	G	18: 76,299,975	E326G	probably damaging	Het
Sp9	T	A	2: 73,274,251	L383Q	probably damaging	Het
Stx11	T	C	10: 12,941,815	N55S	probably damaging	Het
Tbc1d15	T	A	10: 115,220,308	Q253L	probably benign	Het
Tcf7l1	T	A	6: 72,637,051		probably benign	Het
Tdrd9	T	A	12: 112,042,719	S1020T	probably damaging	Het
Tead3	A	T	17: 28,341,365	D88E	probably damaging	Het
Tnrc18	A	G	5: 142,815,171	S11P	probably damaging	Homo
Trpc3	G	T	3: 36,671,022	D268E	probably damaging	Het
Ttn	A	G	2: 76,745,741	V23190A	possibly damaging	Het
Ubr4	T	A	4: 139,408,626	Y908*	probably null	Het
Urb2	G	T	8: 124,030,856	V1101L	possibly damaging	Het
Usp9y	A	T	Y: 1,341,535	D1375E	probably benign	Het
Zcchc7	T	C	4: 44,895,838	L262P	probably damaging	Het
Zdhhc7	T	A	8: 120,084,900	H188L	probably benign	Het
Zfp518a	T	A	19: 40,912,433	C269S	probably damaging	Het
Zfp933	T	C	4: 147,826,774	K90E	probably benign	Het

Other mutations in Atf7ip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00844:Atf7ip	APN	6	136560681	missense	probably benign	0.00
IGL01483:Atf7ip	APN	6	136587459	missense	probably damaging	1.00
IGL02313:Atf7ip	APN	6	136606720	missense	probably damaging	0.99
IGL02319:Atf7ip	APN	6	136593118	missense	probably benign	0.01
IGL02547:Atf7ip	APN	6	136603276	splice site	probably benign
IGL02869:Atf7ip	APN	6	136606579	missense	probably damaging	0.99
IGL02895:Atf7ip	APN	6	136560688	missense	probably damaging	0.99
IGL02967:Atf7ip	APN	6	136606727	missense	probably damaging	0.98
IGL03026:Atf7ip	APN	6	136605382	missense	possibly damaging	0.79
R0024:Atf7ip	UTSW	6	136599820	splice site	probably benign
R0045:Atf7ip	UTSW	6	136559816	missense	probably damaging	1.00
R0045:Atf7ip	UTSW	6	136559816	missense	probably damaging	1.00
R0325:Atf7ip	UTSW	6	136560989	missense	possibly damaging	0.86
R0331:Atf7ip	UTSW	6	136561163	missense	possibly damaging	0.94
R0415:Atf7ip	UTSW	6	136560012	missense	possibly damaging	0.92
R0490:Atf7ip	UTSW	6	136609192	unclassified	probably benign
R0526:Atf7ip	UTSW	6	136559805	missense	probably damaging	1.00
R1503:Atf7ip	UTSW	6	136606867	missense	probably damaging	0.96
R1663:Atf7ip	UTSW	6	136603324	missense	possibly damaging	0.93
R1793:Atf7ip	UTSW	6	136609219	unclassified	probably benign
R1822:Atf7ip	UTSW	6	136587260	missense	probably benign	0.11
R1873:Atf7ip	UTSW	6	136559888	missense	probably damaging	1.00
R1937:Atf7ip	UTSW	6	136560780	missense	probably benign	0.41
R2059:Atf7ip	UTSW	6	136609348	unclassified	probably benign
R2134:Atf7ip	UTSW	6	136605487	missense	possibly damaging	0.80
R2679:Atf7ip	UTSW	6	136566651	missense	possibly damaging	0.62
R3430:Atf7ip	UTSW	6	136575324	unclassified	probably benign
R3755:Atf7ip	UTSW	6	136560817	missense	probably benign	0.01
R3756:Atf7ip	UTSW	6	136560817	missense	probably benign	0.01
R3890:Atf7ip	UTSW	6	136587045	missense	possibly damaging	0.48
R4190:Atf7ip	UTSW	6	136587501	missense	probably damaging	1.00
R4494:Atf7ip	UTSW	6	136563749	splice site	probably null
R4588:Atf7ip	UTSW	6	136599694	missense	probably benign
R4618:Atf7ip	UTSW	6	136565106	missense	probably damaging	1.00
R4705:Atf7ip	UTSW	6	136561194	missense	probably damaging	1.00
R4838:Atf7ip	UTSW	6	136596491	missense	probably benign	0.06
R4922:Atf7ip	UTSW	6	136560041	missense	possibly damaging	0.91
R4956:Atf7ip	UTSW	6	136606810	missense	probably damaging	1.00
R4957:Atf7ip	UTSW	6	136606810	missense	probably damaging	1.00
R4958:Atf7ip	UTSW	6	136606810	missense	probably damaging	1.00
R5000:Atf7ip	UTSW	6	136582428	missense	probably damaging	1.00
R5001:Atf7ip	UTSW	6	136561388	missense	probably damaging	0.99
R5075:Atf7ip	UTSW	6	136560234	missense	probably benign
R5279:Atf7ip	UTSW	6	136603379	nonsense	probably null
R5445:Atf7ip	UTSW	6	136587257	missense	probably damaging	1.00
R5844:Atf7ip	UTSW	6	136606814	missense	probably damaging	1.00
R5850:Atf7ip	UTSW	6	136566787	critical splice donor site	probably null
R5987:Atf7ip	UTSW	6	136571502	missense	probably damaging	1.00
R6168:Atf7ip	UTSW	6	136559819	missense	probably damaging	1.00
R6726:Atf7ip	UTSW	6	136582391	missense	probably damaging	1.00
R6880:Atf7ip	UTSW	6	136561040	missense	probably damaging	1.00
R6924:Atf7ip	UTSW	6	136559757	splice site	probably null
R7075:Atf7ip	UTSW	6	136596515	critical splice donor site	probably null
R7308:Atf7ip	UTSW	6	136565089	missense	probably benign	0.01
R7365:Atf7ip	UTSW	6	136560710	missense	probably benign
R7556:Atf7ip	UTSW	6	136561241	missense	probably damaging	0.99
R7812:Atf7ip	UTSW	6	136603417	missense	probably damaging	0.96
R7973:Atf7ip	UTSW	6	136561064	nonsense	probably null
R8032:Atf7ip	UTSW	6	136565112	missense	probably benign	0.00
R8203:Atf7ip	UTSW	6	136606783	missense	probably damaging	0.99
R8274:Atf7ip	UTSW	6	136560990	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCAAGGCTCGGAAAACAATG -3'
(R):5'- GGGTTATCAGAGACTGGGGTAC -3'

Sequencing Primer
(F):5'- CAATGAGAGCGAGCGATCG -3'
(R):5'- CCAGAACCTGGTTCAGTGGTTAC -3'

Posted On

2017-02-15