Mutagenetix > Incidental Mutation

Incidental Mutation 'R0415:Atf7ip'

40236

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

038617-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R0415 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136506167-136610862 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 136560012 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 81 (S81L)

Ref Sequence

ENSEMBL: ENSMUSP00000139446 (fasta)

Gene Model

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

AlphaFold

Q7TT18

Predicted Effect

probably benign
Transcript: ENSMUST00000032335
AA Change: S81L

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000032335
Gene: ENSMUSG00000030213
AA Change: S81L

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: ENSMUST00000185724
AA Change: S81L

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000140458
Gene: ENSMUSG00000030213
AA Change: S81L

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: S89L

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000140502
Gene: ENSMUSG00000030213
AA Change: S89L

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

possibly damaging
Transcript: ENSMUST00000189535
AA Change: S81L

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

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

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (99/102)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427G23Rik	A	T	5: 23,831,050 (GRCm38)		noncoding transcript	Het
Acox2	A	G	14: 8,243,835 (GRCm38)		probably benign	Het
Adgb	T	C	10: 10,431,067 (GRCm38)		probably null	Het
Adgra3	C	A	5: 49,961,757 (GRCm38)		probably benign	Het
Adgre4	G	A	17: 55,852,288 (GRCm38)	V658I	probably benign	Het
Ahnak	A	G	19: 9,012,871 (GRCm38)		probably benign	Het
Anapc2	A	G	2: 25,278,325 (GRCm38)	T159A	probably damaging	Het
Arfgef3	A	G	10: 18,613,127 (GRCm38)		probably benign	Het
Cacna1i	A	G	15: 80,368,830 (GRCm38)		probably benign	Het
Camk1	A	T	6: 113,341,891 (GRCm38)	Y20*	probably null	Het
Ccdc40	T	C	11: 119,232,118 (GRCm38)	Y249H	possibly damaging	Het
Cd109	T	A	9: 78,712,615 (GRCm38)	S1380T	probably benign	Het
Cfap57	A	T	4: 118,569,431 (GRCm38)	L1107Q	possibly damaging	Het
Col6a4	C	T	9: 106,075,080 (GRCm38)	V540I	probably damaging	Het
Cst9	T	A	2: 148,838,442 (GRCm38)		probably benign	Het
Cul5	C	T	9: 53,667,070 (GRCm38)	V73I	probably benign	Het
Cxcl16	T	A	11: 70,458,748 (GRCm38)	K84*	probably null	Het
Cyp2c29	T	C	19: 39,329,095 (GRCm38)		probably benign	Het
D6Ertd527e	C	G	6: 87,111,524 (GRCm38)	T223S	unknown	Het
Dip2c	C	T	13: 9,568,289 (GRCm38)		probably benign	Het
Dis3	A	T	14: 99,087,456 (GRCm38)	I513N	probably damaging	Het
Dnajc16	A	T	4: 141,789,048 (GRCm38)	L3*	probably null	Het
Dopey1	T	A	9: 86,506,502 (GRCm38)	L480M	probably damaging	Het
Eml6	A	G	11: 29,749,392 (GRCm38)	V1787A	possibly damaging	Het
Etnk1	A	G	6: 143,180,774 (GRCm38)	N115S	probably damaging	Het
Fryl	T	C	5: 73,098,414 (GRCm38)	Y758C	probably damaging	Het
Gbp4	G	A	5: 105,121,106 (GRCm38)	R394C	possibly damaging	Het
Ggnbp2	A	C	11: 84,833,225 (GRCm38)		probably benign	Het
Gm7137	A	G	10: 77,788,173 (GRCm38)		probably benign	Het
Gstm2	T	A	3: 107,984,006 (GRCm38)	Q132L	probably benign	Het
Habp2	T	C	19: 56,317,717 (GRCm38)		probably benign	Het
Hectd2	T	C	19: 36,584,884 (GRCm38)		probably benign	Het
Htr6	A	G	4: 139,062,081 (GRCm38)	I291T	possibly damaging	Het
Ighg2c	T	C	12: 113,287,910 (GRCm38)	D199G	unknown	Het
Itih2	A	G	2: 10,105,615 (GRCm38)		probably benign	Het
Kcnab2	A	G	4: 152,395,136 (GRCm38)	F248S	probably benign	Het
Kcnc4	T	C	3: 107,445,433 (GRCm38)	K610E	probably damaging	Het
Kcnk16	T	A	14: 20,262,975 (GRCm38)		probably null	Het
Kndc1	C	T	7: 139,930,124 (GRCm38)	T1293I	probably damaging	Het
Lcp1	A	T	14: 75,227,006 (GRCm38)	I556F	possibly damaging	Het
Lrrc8d	T	C	5: 105,811,865 (GRCm38)	L47P	probably damaging	Het
Lyst	T	C	13: 13,711,610 (GRCm38)		probably benign	Het
Macrod2	G	A	2: 142,210,145 (GRCm38)		probably null	Het
Micalcl	C	T	7: 112,381,028 (GRCm38)	R70C	probably damaging	Het
Mllt3	ACTGCTGCTGCTGCTGCTGCT	ACTGCTGCTGCTGCTGCT	4: 87,841,339 (GRCm38)		probably benign	Het
Msh3	A	G	13: 92,346,786 (GRCm38)	V283A	possibly damaging	Het
Nup205	T	C	6: 35,214,634 (GRCm38)		probably benign	Het
Nxpe2	T	C	9: 48,326,614 (GRCm38)	T114A	probably damaging	Het
Olfr1023	A	T	2: 85,887,438 (GRCm38)	I213F	possibly damaging	Het
Olfr1034	A	T	2: 86,047,055 (GRCm38)	H191L	probably benign	Het
Olfr229	A	G	9: 39,909,983 (GRCm38)	Y60C	probably damaging	Het
Olfr78	C	T	7: 102,742,087 (GRCm38)	M305I	probably benign	Het
Olfr893	A	T	9: 38,209,973 (GRCm38)	M305L	probably benign	Het
Pard3	G	A	8: 127,610,566 (GRCm38)	G1221D	probably damaging	Het
Pax5	G	A	4: 44,691,886 (GRCm38)	A120V	probably damaging	Het
Pcsk6	C	T	7: 66,033,874 (GRCm38)	R746C	probably damaging	Het
Pif1	G	A	9: 65,588,051 (GRCm38)	C81Y	probably benign	Het
Plcb1	A	G	2: 135,337,499 (GRCm38)	Y609C	probably damaging	Het
Plcd4	C	A	1: 74,552,097 (GRCm38)	S217Y	probably damaging	Het
Plxna1	G	A	6: 89,357,336 (GRCm38)	H104Y	probably benign	Het
Polr2k	A	G	15: 36,175,456 (GRCm38)	Y45C	probably damaging	Het
Pqlc3	C	A	12: 16,997,710 (GRCm38)		probably benign	Het
Prex1	A	G	2: 166,586,699 (GRCm38)		probably benign	Het
Pth2r	A	G	1: 65,388,439 (GRCm38)	M424V	probably benign	Het
Pygm	A	G	19: 6,391,366 (GRCm38)	R464G	probably benign	Het
Rad51c	A	G	11: 87,397,655 (GRCm38)	L234P	probably damaging	Het
Rnf145	A	G	11: 44,525,138 (GRCm38)	Y60C	probably damaging	Het
Rnf167	T	C	11: 70,649,699 (GRCm38)	I135T	probably damaging	Het
Rnf213	A	T	11: 119,414,469 (GRCm38)	I509F	probably damaging	Het
Ryr2	T	C	13: 11,869,156 (GRCm38)	S213G	probably damaging	Het
Selenbp1	T	C	3: 94,936,913 (GRCm38)	V27A	possibly damaging	Het
Selenof	T	G	3: 144,577,692 (GRCm38)	L14R	probably damaging	Het
Sfswap	A	T	5: 129,504,126 (GRCm38)	D121V	probably damaging	Het
Slc25a34	C	A	4: 141,620,469 (GRCm38)	M300I	possibly damaging	Het
Slc34a3	T	G	2: 25,229,110 (GRCm38)	T583P	probably benign	Het
Smg1	C	A	7: 118,182,468 (GRCm38)	A1199S	probably benign	Het
Spint1	A	G	2: 119,245,615 (GRCm38)	T231A	probably damaging	Het
Sptbn1	A	C	11: 30,149,576 (GRCm38)	N229K	probably damaging	Het
Sult2b1	A	G	7: 45,730,092 (GRCm38)		probably benign	Het
Tas2r123	A	T	6: 132,847,838 (GRCm38)	M233L	probably damaging	Het
Tbcel	C	A	9: 42,444,500 (GRCm38)	C139F	probably benign	Het
Thbs2	A	C	17: 14,679,973 (GRCm38)	S573A	probably benign	Het
Tmem132c	A	G	5: 127,563,705 (GRCm38)	E980G	probably damaging	Het
Tmem247	G	T	17: 86,922,322 (GRCm38)	C197F	probably damaging	Het
Tmem251	T	A	12: 102,744,876 (GRCm38)	Y119*	probably null	Het
Tmem43	C	A	6: 91,482,318 (GRCm38)	P257Q	probably benign	Het
Tmprss13	A	G	9: 45,337,132 (GRCm38)		probably null	Het
Trove2	G	T	1: 143,760,075 (GRCm38)	N444K	probably benign	Het
Ubr5	T	C	15: 37,972,980 (GRCm38)	T2626A	probably damaging	Het
Vmn1r196	T	A	13: 22,293,836 (GRCm38)	V215D	probably damaging	Het
Vmn1r22	G	T	6: 57,900,332 (GRCm38)	T220K	probably benign	Het
Vmn2r116	G	A	17: 23,387,279 (GRCm38)	M388I	possibly damaging	Het
Vmn2r74	A	C	7: 85,961,410 (GRCm38)	C25G	probably damaging	Het
Xndc1	T	C	7: 102,080,616 (GRCm38)		probably benign	Het
Zfp282	A	G	6: 47,897,881 (GRCm38)	D340G	probably damaging	Het
Zfp282	T	A	6: 47,905,053 (GRCm38)	I558N	possibly damaging	Het
Zfp316	T	A	5: 143,264,491 (GRCm38)	T56S	unknown	Het
Zfp345	A	G	2: 150,474,559 (GRCm38)		probably benign	Het

Other mutations in Atf7ip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00844:Atf7ip	APN	6	136,560,681 (GRCm38)	missense	probably benign	0.00
IGL01483:Atf7ip	APN	6	136,587,459 (GRCm38)	missense	probably damaging	1.00
IGL02313:Atf7ip	APN	6	136,606,720 (GRCm38)	missense	probably damaging	0.99
IGL02319:Atf7ip	APN	6	136,593,118 (GRCm38)	missense	probably benign	0.01
IGL02547:Atf7ip	APN	6	136,603,276 (GRCm38)	splice site	probably benign
IGL02869:Atf7ip	APN	6	136,606,579 (GRCm38)	missense	probably damaging	0.99
IGL02895:Atf7ip	APN	6	136,560,688 (GRCm38)	missense	probably damaging	0.99
IGL02967:Atf7ip	APN	6	136,606,727 (GRCm38)	missense	probably damaging	0.98
IGL03026:Atf7ip	APN	6	136,605,382 (GRCm38)	missense	possibly damaging	0.79
fuegado	UTSW	6	136,560,710 (GRCm38)	missense	probably benign
Outtahere	UTSW	6	136,565,106 (GRCm38)	missense	probably damaging	1.00
Severance	UTSW	6	136,559,816 (GRCm38)	missense	probably damaging	1.00
R0024:Atf7ip	UTSW	6	136,599,820 (GRCm38)	splice site	probably benign
R0045:Atf7ip	UTSW	6	136,559,816 (GRCm38)	missense	probably damaging	1.00
R0045:Atf7ip	UTSW	6	136,559,816 (GRCm38)	missense	probably damaging	1.00
R0325:Atf7ip	UTSW	6	136,560,989 (GRCm38)	missense	possibly damaging	0.86
R0331:Atf7ip	UTSW	6	136,561,163 (GRCm38)	missense	possibly damaging	0.94
R0490:Atf7ip	UTSW	6	136,609,192 (GRCm38)	unclassified	probably benign
R0526:Atf7ip	UTSW	6	136,559,805 (GRCm38)	missense	probably damaging	1.00
R1503:Atf7ip	UTSW	6	136,606,867 (GRCm38)	missense	probably damaging	0.96
R1663:Atf7ip	UTSW	6	136,603,324 (GRCm38)	missense	possibly damaging	0.93
R1793:Atf7ip	UTSW	6	136,609,219 (GRCm38)	unclassified	probably benign
R1822:Atf7ip	UTSW	6	136,587,260 (GRCm38)	missense	probably benign	0.11
R1873:Atf7ip	UTSW	6	136,559,888 (GRCm38)	missense	probably damaging	1.00
R1937:Atf7ip	UTSW	6	136,560,780 (GRCm38)	missense	probably benign	0.41
R2059:Atf7ip	UTSW	6	136,609,348 (GRCm38)	unclassified	probably benign
R2134:Atf7ip	UTSW	6	136,605,487 (GRCm38)	missense	possibly damaging	0.80
R2679:Atf7ip	UTSW	6	136,566,651 (GRCm38)	missense	possibly damaging	0.62
R3430:Atf7ip	UTSW	6	136,575,324 (GRCm38)	unclassified	probably benign
R3755:Atf7ip	UTSW	6	136,560,817 (GRCm38)	missense	probably benign	0.01
R3756:Atf7ip	UTSW	6	136,560,817 (GRCm38)	missense	probably benign	0.01
R3890:Atf7ip	UTSW	6	136,587,045 (GRCm38)	missense	possibly damaging	0.48
R4190:Atf7ip	UTSW	6	136,587,501 (GRCm38)	missense	probably damaging	1.00
R4494:Atf7ip	UTSW	6	136,563,749 (GRCm38)	splice site	probably null
R4588:Atf7ip	UTSW	6	136,599,694 (GRCm38)	missense	probably benign
R4618:Atf7ip	UTSW	6	136,565,106 (GRCm38)	missense	probably damaging	1.00
R4705:Atf7ip	UTSW	6	136,561,194 (GRCm38)	missense	probably damaging	1.00
R4838:Atf7ip	UTSW	6	136,596,491 (GRCm38)	missense	probably benign	0.06
R4922:Atf7ip	UTSW	6	136,560,041 (GRCm38)	missense	possibly damaging	0.91
R4956:Atf7ip	UTSW	6	136,606,810 (GRCm38)	missense	probably damaging	1.00
R4957:Atf7ip	UTSW	6	136,606,810 (GRCm38)	missense	probably damaging	1.00
R4958:Atf7ip	UTSW	6	136,606,810 (GRCm38)	missense	probably damaging	1.00
R5000:Atf7ip	UTSW	6	136,582,428 (GRCm38)	missense	probably damaging	1.00
R5001:Atf7ip	UTSW	6	136,561,388 (GRCm38)	missense	probably damaging	0.99
R5075:Atf7ip	UTSW	6	136,560,234 (GRCm38)	missense	probably benign
R5279:Atf7ip	UTSW	6	136,603,379 (GRCm38)	nonsense	probably null
R5445:Atf7ip	UTSW	6	136,587,257 (GRCm38)	missense	probably damaging	1.00
R5844:Atf7ip	UTSW	6	136,606,814 (GRCm38)	missense	probably damaging	1.00
R5850:Atf7ip	UTSW	6	136,566,787 (GRCm38)	critical splice donor site	probably null
R5891:Atf7ip	UTSW	6	136,559,977 (GRCm38)	missense	possibly damaging	0.64
R5987:Atf7ip	UTSW	6	136,571,502 (GRCm38)	missense	probably damaging	1.00
R6168:Atf7ip	UTSW	6	136,559,819 (GRCm38)	missense	probably damaging	1.00
R6726:Atf7ip	UTSW	6	136,582,391 (GRCm38)	missense	probably damaging	1.00
R6880:Atf7ip	UTSW	6	136,561,040 (GRCm38)	missense	probably damaging	1.00
R6924:Atf7ip	UTSW	6	136,559,757 (GRCm38)	splice site	probably null
R7075:Atf7ip	UTSW	6	136,596,515 (GRCm38)	critical splice donor site	probably null
R7308:Atf7ip	UTSW	6	136,565,089 (GRCm38)	missense	probably benign	0.01
R7365:Atf7ip	UTSW	6	136,560,710 (GRCm38)	missense	probably benign
R7556:Atf7ip	UTSW	6	136,561,241 (GRCm38)	missense	probably damaging	0.99
R7812:Atf7ip	UTSW	6	136,603,417 (GRCm38)	missense	probably damaging	0.96
R7973:Atf7ip	UTSW	6	136,561,064 (GRCm38)	nonsense	probably null
R8032:Atf7ip	UTSW	6	136,565,112 (GRCm38)	missense	probably benign	0.00
R8203:Atf7ip	UTSW	6	136,606,783 (GRCm38)	missense	probably damaging	0.99
R8274:Atf7ip	UTSW	6	136,560,990 (GRCm38)	missense	probably benign
R8784:Atf7ip	UTSW	6	136,599,650 (GRCm38)	missense	probably damaging	0.99
R8785:Atf7ip	UTSW	6	136,587,164 (GRCm38)	missense	probably damaging	0.97
R8885:Atf7ip	UTSW	6	136,587,143 (GRCm38)	missense	probably benign	0.06
R8957:Atf7ip	UTSW	6	136,566,703 (GRCm38)	missense	probably null	0.99
R9042:Atf7ip	UTSW	6	136,561,265 (GRCm38)	nonsense	probably null
R9531:Atf7ip	UTSW	6	136,560,877 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTTGCCTTCTCCAAACCTGCAAAG -3'
(R):5'- TGGACTACCAGAACCTGGTTCAGTG -3'

Sequencing Primer
(F):5'- GTCTTCAAGGCTCGGAAAAC -3'
(R):5'- GGTTACTCTAGAAGAAAGATCACAAG -3'

Posted On

2013-05-23