Incidental Mutation 'R6924:Atf7ip'
ID 554326
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 045042-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.918) question?
Stock # R6924 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 136495787-136587848 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to G at 136536755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032335] [ENSMUST00000032335] [ENSMUST00000185724] [ENSMUST00000185724] [ENSMUST00000186577] [ENSMUST00000186742] [ENSMUST00000186742] [ENSMUST00000187429] [ENSMUST00000187429] [ENSMUST00000189535] [ENSMUST00000189535] [ENSMUST00000203988]
AlphaFold Q7TT18
Predicted Effect probably null
Transcript: ENSMUST00000032335
SMART Domains Protein: ENSMUSP00000032335
Gene: ENSMUSG00000030213

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000032335
SMART Domains Protein: ENSMUSP00000032335
Gene: ENSMUSG00000030213

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000185724
SMART Domains Protein: ENSMUSP00000140458
Gene: ENSMUSG00000030213

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000185724
SMART Domains Protein: ENSMUSP00000140458
Gene: ENSMUSG00000030213

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
coiled coil region 71 101 N/A INTRINSIC
low complexity region 106 116 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000186742
Predicted Effect probably null
Transcript: ENSMUST00000186742
Predicted Effect probably null
Transcript: ENSMUST00000187429
SMART Domains Protein: ENSMUSP00000140502
Gene: ENSMUSG00000030213

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000187429
SMART Domains Protein: ENSMUSP00000140502
Gene: ENSMUSG00000030213

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000189535
Predicted Effect probably null
Transcript: ENSMUST00000189535
Predicted Effect probably benign
Transcript: ENSMUST00000203178
Predicted Effect probably benign
Transcript: ENSMUST00000203988
SMART Domains Protein: ENSMUSP00000145022
Gene: ENSMUSG00000030213

DomainStartEndE-ValueType
Pfam:ATF7IP_BD 3 73 1.6e-26 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 98% (54/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A C 4: 39,450,884 (GRCm39) H30P probably damaging Het
Abhd6 A T 14: 8,049,850 (GRCm38) H213L possibly damaging Het
Adam22 T A 5: 8,417,322 (GRCm39) N40I possibly damaging Het
Ankrd42 A G 7: 92,231,224 (GRCm39) probably benign Het
Arhgap40 C T 2: 158,369,066 (GRCm39) R63C probably benign Het
Atg7 T C 6: 114,686,172 (GRCm39) probably null Het
Car6 A C 4: 150,273,713 (GRCm39) probably null Het
Carmil1 A T 13: 24,259,667 (GRCm39) C302* probably null Het
Ccdc117 A T 11: 5,484,255 (GRCm39) M195K probably benign Het
Cep95 T C 11: 106,702,023 (GRCm39) M383T probably damaging Het
Col20a1 A G 2: 180,638,643 (GRCm39) E419G probably damaging Het
Cyp2d9 C G 15: 82,339,413 (GRCm39) R272G probably damaging Het
Dhx57 A T 17: 80,546,244 (GRCm39) M1380K possibly damaging Het
Dnah14 A G 1: 181,455,517 (GRCm39) S881G probably benign Het
Fcgbp T A 7: 27,793,248 (GRCm39) I1084N probably benign Het
Fgf17 A T 14: 70,878,981 (GRCm39) C21* probably null Het
Gemin4 A G 11: 76,103,162 (GRCm39) L533P probably damaging Het
Gkn3 T C 6: 87,365,784 (GRCm39) R12G probably benign Het
Gpr161 G T 1: 165,149,188 (GRCm39) R519L possibly damaging Het
Grin2a A G 16: 9,481,092 (GRCm39) V535A possibly damaging Het
Gys1 G A 7: 45,093,059 (GRCm39) probably null Het
Hfm1 C T 5: 106,998,276 (GRCm39) probably null Het
Hmcn2 T A 2: 31,240,517 (GRCm39) probably null Het
Hnrnpul2 T C 19: 8,808,873 (GRCm39) Y738H unknown Het
Hycc1 T C 5: 24,191,133 (GRCm39) probably null Het
Igsf23 A G 7: 19,675,684 (GRCm39) S141P possibly damaging Het
Lamc3 A C 2: 31,828,081 (GRCm39) M1423L probably benign Het
Lcmt2 T C 2: 120,970,484 (GRCm39) T200A probably benign Het
Lgr4 T C 2: 109,842,784 (GRCm39) V899A probably damaging Het
Macf1 T A 4: 123,421,145 (GRCm39) R36S possibly damaging Het
Mrgprb8 A G 7: 48,038,871 (GRCm39) K181E possibly damaging Het
Muc2 G A 7: 141,284,077 (GRCm39) V786M possibly damaging Het
Nacc2 T C 2: 25,980,041 (GRCm39) T132A probably damaging Het
Nsmce2 T A 15: 59,250,774 (GRCm39) I15K probably damaging Het
Or10p22 T G 10: 128,825,960 (GRCm39) Y60D probably damaging Het
Or4k15c A G 14: 50,321,307 (GRCm39) I277T possibly damaging Het
Otoa A T 7: 120,730,724 (GRCm39) probably null Het
Otogl A G 10: 107,644,502 (GRCm39) I1248T probably damaging Het
Ppp1r17 T A 6: 56,003,007 (GRCm39) D32E probably damaging Het
Relt A C 7: 100,496,468 (GRCm39) V427G probably damaging Het
Ric1 T A 19: 29,546,788 (GRCm39) V256D probably damaging Het
Samhd1 T C 2: 156,951,403 (GRCm39) T445A probably benign Het
Sepsecs T C 5: 52,821,646 (GRCm39) I189V probably benign Het
Shroom3 T A 5: 93,112,262 (GRCm39) D1793E probably damaging Het
Sim1 C T 10: 50,784,635 (GRCm39) T137I probably benign Het
Stk17b A T 1: 53,800,218 (GRCm39) D253E possibly damaging Het
Stmnd1 T C 13: 46,452,969 (GRCm39) V215A probably benign Het
Tcl1 A G 12: 105,185,015 (GRCm39) L65P probably damaging Het
Tiam2 A C 17: 3,558,070 (GRCm39) K1231N probably damaging Het
Tm9sf3 T C 19: 41,206,717 (GRCm39) Y476C probably damaging Het
Trim63 T C 4: 134,048,572 (GRCm39) S194P probably damaging Het
Ugt1a10 T A 1: 87,983,379 (GRCm39) I59N probably damaging Het
Vmn2r65 A G 7: 84,613,198 (GRCm39) F7S probably benign Het
Zfp775 T A 6: 48,596,589 (GRCm39) H154Q probably damaging Het
Zfp804b C T 5: 6,819,902 (GRCm39) V1018I probably benign Het
Other mutations in Atf7ip
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ACTTTTCACGCCCCTGAAGC -3'
(R):5'- GGGATCCAAGTCTCCATTCTC -3'

Sequencing Primer
(F):5'- CTGAAGCGGCTCCTTTTTAAC -3'
(R):5'- TCATGGCTCCCGTTCAGCAG -3'
Posted On 2019-05-30