Mutagenetix > Incidental Mutation

Incidental Mutation 'R1822:Atf7ip'

206471

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

039850-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

R1822 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136495787-136587848 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136564258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 834 (T834A)

Ref Sequence

ENSEMBL: ENSMUSP00000140502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032335] [ENSMUST00000186577] [ENSMUST00000187429]

AlphaFold

Q7TT18

Predicted Effect

probably benign
Transcript: ENSMUST00000032335
AA Change: T826A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000032335
Gene: ENSMUSG00000030213
AA Change: T826A

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 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: ENSMUST00000187429
AA Change: T834A

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000140502
Gene: ENSMUSG00000030213
AA Change: T834A

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

noncoding transcript
Transcript: ENSMUST00000188805

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

Validation Efficiency

97% (105/108)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,847,901 (GRCm39)	T798K	possibly damaging	Het
Abtb1	T	C	6: 88,813,536 (GRCm39)	T401A	probably benign	Het
Adsl	G	T	15: 80,846,943 (GRCm39)	E70*	probably null	Het
Ahcyl2	A	G	6: 29,768,583 (GRCm39)		probably benign	Het
Akr1a1	A	G	4: 116,493,850 (GRCm39)	V310A	probably benign	Het
Alpk3	T	A	7: 80,726,679 (GRCm39)	C121*	probably null	Het
Amph	T	A	13: 19,132,625 (GRCm39)	I8N	probably damaging	Het
Ano2	G	A	6: 125,840,420 (GRCm39)	A364T	probably damaging	Het
Apbb2	T	C	5: 66,557,520 (GRCm39)	T314A	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Brca2	T	G	5: 150,463,663 (GRCm39)	D1142E	probably benign	Het
Brd10	T	C	19: 29,693,814 (GRCm39)	N1960S	probably damaging	Het
Cap2	A	G	13: 46,768,823 (GRCm39)	S210G	probably benign	Het
Capn2	C	A	1: 182,300,525 (GRCm39)	E596D	possibly damaging	Het
Cdc27	A	T	11: 104,413,648 (GRCm39)	S358R	probably benign	Het
Cdhr3	C	T	12: 33,095,204 (GRCm39)	G622S	probably null	Het
Clip2	A	G	5: 134,532,081 (GRCm39)	Y540H	probably benign	Het
Crhr1	A	T	11: 104,023,898 (GRCm39)	M1L	probably benign	Het
Csmd1	T	C	8: 16,273,340 (GRCm39)	T831A	probably damaging	Het
Cwc22	T	C	2: 77,755,003 (GRCm39)		probably benign	Het
Cyp3a25	T	A	5: 145,921,763 (GRCm39)	K390N	probably damaging	Het
Cyp4a31	T	C	4: 115,423,810 (GRCm39)		probably null	Het
Cytip	A	C	2: 58,024,158 (GRCm39)	S221A	probably benign	Het
Dagla	G	A	19: 10,240,550 (GRCm39)	R227C	possibly damaging	Het
Dhx57	A	G	17: 80,560,514 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,405,630 (GRCm39)	D627E	probably damaging	Het
Dock8	A	G	19: 25,138,422 (GRCm39)	E1249G	probably benign	Het
Dpysl3	A	G	18: 43,475,393 (GRCm39)	V31A	probably benign	Het
Ecpas	A	G	4: 58,805,539 (GRCm39)		probably null	Het
Fan1	T	C	7: 64,022,554 (GRCm39)	N233S	probably benign	Het
Fras1	A	T	5: 96,918,547 (GRCm39)	I3528F	probably damaging	Het
Glipr1	T	A	10: 111,832,765 (GRCm39)	M58L	possibly damaging	Het
Gm10509	C	T	17: 21,909,765 (GRCm39)	P31S	possibly damaging	Het
Gm5070	T	C	3: 95,318,355 (GRCm39)		noncoding transcript	Het
Gramd1a	T	C	7: 30,841,998 (GRCm39)	N138S	probably damaging	Het
Grk5	T	C	19: 61,078,410 (GRCm39)	V489A	probably damaging	Het
Hmcn2	C	T	2: 31,273,704 (GRCm39)	S1352L	probably damaging	Het
Hoxa5	G	A	6: 52,179,712 (GRCm39)	T221I	probably damaging	Het
Hsd17b2	C	A	8: 118,485,488 (GRCm39)	P317Q	possibly damaging	Het
Ifi213	T	A	1: 173,417,408 (GRCm39)	S335C	probably damaging	Het
Izumo4	A	T	10: 80,539,729 (GRCm39)	D156V	probably damaging	Het
Khnyn	A	T	14: 56,123,309 (GRCm39)	E21V	probably damaging	Het
Kmt2d	C	T	15: 98,759,661 (GRCm39)	G1199E	unknown	Het
Lipk	T	C	19: 34,016,491 (GRCm39)	W240R	probably benign	Het
Lpar5	A	G	6: 125,058,378 (GRCm39)	D33G	possibly damaging	Het
Lrp11	A	G	10: 7,471,961 (GRCm39)	D219G	probably damaging	Het
Lrrcc1	T	C	3: 14,624,285 (GRCm39)		probably benign	Het
Man2a1	T	C	17: 65,047,837 (GRCm39)	C252R	probably damaging	Het
Map2k5	A	G	9: 63,142,585 (GRCm39)	F354L	possibly damaging	Het
Mlh3	T	C	12: 85,312,919 (GRCm39)		probably benign	Het
Mmp28	A	G	11: 83,335,045 (GRCm39)	I331T	probably damaging	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Myo3a	A	T	2: 22,345,091 (GRCm39)	Y509F	probably damaging	Het
Nckap1	A	G	2: 80,348,242 (GRCm39)	S898P	possibly damaging	Het
Nectin1	T	A	9: 43,702,374 (GRCm39)	Y40*	probably null	Het
Neurl1a	T	A	19: 47,245,898 (GRCm39)	V493E	probably benign	Het
Ntf3	A	C	6: 126,079,209 (GRCm39)	I99S	probably benign	Het
Or10ag53	T	C	2: 87,083,054 (GRCm39)	S258P	possibly damaging	Het
Or1l4	C	G	2: 37,091,992 (GRCm39)	H246Q	probably damaging	Het
Or1p1c	A	G	11: 74,161,066 (GRCm39)	T284A	probably benign	Het
Or2ak5	A	T	11: 58,611,133 (GRCm39)	V247E	probably damaging	Het
Or2i1	A	G	17: 37,507,722 (GRCm39)		probably benign	Het
Or2y1c	T	A	11: 49,361,795 (GRCm39)	F272L	probably benign	Het
Or6k8-ps1	C	T	1: 173,979,780 (GRCm39)	R233C	probably benign	Het
Otof	G	A	5: 30,536,054 (GRCm39)	T1343I	probably benign	Het
Otop2	A	T	11: 115,215,454 (GRCm39)	Y125F	probably benign	Het
Pate3	G	A	9: 35,557,401 (GRCm39)	T85I	probably benign	Het
Pdpk1	A	T	17: 24,317,150 (GRCm39)		probably benign	Het
Phf11d	T	C	14: 59,593,778 (GRCm39)	H132R	probably benign	Het
Pik3c3	G	A	18: 30,477,130 (GRCm39)		probably null	Het
Pkhd1	C	A	1: 20,417,681 (GRCm39)	G2490V	probably damaging	Het
Prkdc	G	A	16: 15,577,469 (GRCm39)	D2372N	probably damaging	Het
Ptprq	C	T	10: 107,554,339 (GRCm39)	E129K	probably damaging	Het
Pym1	G	A	10: 128,601,913 (GRCm39)		probably benign	Het
Ralgapb	T	A	2: 158,334,372 (GRCm39)	V1027E	probably damaging	Het
Rita1	T	C	5: 120,747,645 (GRCm39)	T218A	possibly damaging	Het
Rrh	T	A	3: 129,606,282 (GRCm39)	T218S	probably damaging	Het
Scaper	C	T	9: 55,767,184 (GRCm39)	A416T	probably damaging	Het
Scn3a	A	G	2: 65,314,716 (GRCm39)	L1115P	probably damaging	Het
Serpinb6e	A	T	13: 34,017,217 (GRCm39)	S268T	probably damaging	Het
Skic3	C	A	13: 76,278,407 (GRCm39)	H574N	probably benign	Het
Slc1a6	G	A	10: 78,648,765 (GRCm39)	W495*	probably null	Het
Slc32a1	A	G	2: 158,453,298 (GRCm39)	H46R	probably benign	Het
Slc37a1	C	T	17: 31,519,405 (GRCm39)		probably benign	Het
Slc6a5	T	A	7: 49,606,173 (GRCm39)	W694R	probably benign	Het
Smarcd2	A	T	11: 106,158,222 (GRCm39)	D113E	probably benign	Het
Sod3	G	T	5: 52,525,504 (GRCm39)	V68L	probably benign	Het
Srpk3	G	A	X: 72,821,561 (GRCm39)	R425Q	possibly damaging	Het
Sspo	A	T	6: 48,469,820 (GRCm39)	Q4506L	possibly damaging	Het
Stam2	T	A	2: 52,606,539 (GRCm39)	E115D	probably damaging	Het
Sult1c2	A	T	17: 54,280,953 (GRCm39)	L50H	probably damaging	Het
Tbc1d22a	T	C	15: 86,119,770 (GRCm39)	V22A	possibly damaging	Het
Togaram1	T	G	12: 65,042,409 (GRCm39)	V1156G	probably damaging	Het
Tpp1	T	C	7: 105,398,854 (GRCm39)	T192A	probably benign	Het
Ush1c	A	G	7: 45,859,325 (GRCm39)	L498P	probably damaging	Het
Vit	A	C	17: 78,930,265 (GRCm39)	Q410P	probably benign	Het
Vmn2r27	C	T	6: 124,208,593 (GRCm39)	G51S	probably benign	Het
Zfp341	A	G	2: 154,488,054 (GRCm39)	E839G	possibly damaging	Het
Zhx3	G	A	2: 160,622,275 (GRCm39)	L631F	probably benign	Het
Zmpste24	T	C	4: 120,944,513 (GRCm39)	E95G	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- AGTCACGCCACTTCTACAGC -3'
(R):5'- CTCTGAATACTACTAGGACTGGGC -3'

Sequencing Primer
(F):5'- CTACAGCAGTTGTCAGTAGTCAGC -3'
(R):5'- TACTACTAGGACTGGGCACTGAC -3'

Posted On

2014-06-23