Incidental Mutation 'R3430:Atf7ip'
ID 268063
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 040648-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.918) question?
Stock # R3430 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 136495787-136587848 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 136552322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000032335] [ENSMUST00000186577] [ENSMUST00000187429]
AlphaFold Q7TT18
Predicted Effect probably benign
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 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 benign
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 noncoding transcript
Transcript: ENSMUST00000188805
Predicted Effect probably benign
Transcript: ENSMUST00000203178
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (67/67)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l2 C A 19: 56,904,238 (GRCm39) R683L probably damaging Het
Ahnak A G 19: 8,984,322 (GRCm39) I1869V probably benign Het
Aoc1 A T 6: 48,883,010 (GRCm39) E295D probably benign Het
Arhgef19 T C 4: 140,984,111 (GRCm39) L777P probably benign Het
Bhmt T C 13: 93,763,855 (GRCm39) E62G probably damaging Het
Bpifa6 A G 2: 153,831,171 (GRCm39) I246V probably benign Het
Btbd10 T A 7: 112,951,016 (GRCm39) R25* probably null Het
Ccdc88a T A 11: 29,398,033 (GRCm39) D255E probably damaging Het
Chd7 T C 4: 8,844,517 (GRCm39) V1542A probably damaging Het
Cimip1 T C 2: 173,370,066 (GRCm39) Y114H possibly damaging Het
Col12a1 T A 9: 79,587,593 (GRCm39) T1183S probably benign Het
Col20a1 T A 2: 180,655,078 (GRCm39) L1145* probably null Het
Dchs1 A G 7: 105,405,711 (GRCm39) V2391A possibly damaging Het
Dgat2 A G 7: 98,806,300 (GRCm39) V299A probably benign Het
Dmxl2 T A 9: 54,384,745 (GRCm39) N94I possibly damaging Het
Dnah6 G A 6: 73,098,797 (GRCm39) S2034L possibly damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Filip1 A T 9: 79,760,952 (GRCm39) M194K probably damaging Het
Fut1 T C 7: 45,268,798 (GRCm39) F196L probably damaging Het
Gm10323 A C 13: 67,002,888 (GRCm39) W17G probably damaging Het
Grin3a C A 4: 49,792,534 (GRCm39) V400L probably benign Het
Htr3a T C 9: 48,818,688 (GRCm39) N82S probably benign Het
Il23r A C 6: 67,429,458 (GRCm39) S295A probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lama5 T C 2: 179,838,110 (GRCm39) K869E probably benign Het
Lce1d A T 3: 92,593,037 (GRCm39) probably benign Het
Lkaaear1 T C 2: 181,339,324 (GRCm39) D42G probably benign Het
Mapk8ip2 A G 15: 89,341,485 (GRCm39) E232G possibly damaging Het
Marf1 A G 16: 13,958,041 (GRCm39) probably benign Het
Mpeg1 A T 19: 12,440,492 (GRCm39) H650L probably benign Het
Nfib T C 4: 82,416,532 (GRCm39) I168V possibly damaging Het
Or1e29 A T 11: 73,667,365 (GRCm39) S263T probably damaging Het
Or2b7 A T 13: 21,739,975 (GRCm39) C72* probably null Het
Or4c29 C T 2: 88,739,810 (GRCm39) R309Q probably benign Het
Or4e5 A G 14: 52,727,882 (GRCm39) F180L possibly damaging Het
Or8b3b A T 9: 38,584,435 (GRCm39) F102I probably damaging Het
Otx2 T A 14: 48,896,254 (GRCm39) K260M probably damaging Het
P2ry12 C T 3: 59,125,448 (GRCm39) D76N probably damaging Het
Parp3 A T 9: 106,351,922 (GRCm39) I150K probably damaging Het
Prex2 T G 1: 11,220,078 (GRCm39) I683S possibly damaging Het
Prss34 A T 17: 25,518,078 (GRCm39) K86I probably benign Het
Ptpn20 T A 14: 33,336,485 (GRCm39) V108D possibly damaging Het
Rlf A G 4: 121,007,729 (GRCm39) L417P probably benign Het
Rsad2 T C 12: 26,506,418 (GRCm39) M1V probably null Het
S1pr5 A G 9: 21,156,378 (GRCm39) V16A probably benign Het
Scn7a AT ATT 2: 66,531,239 (GRCm39) probably null Het
Serpinb3b A T 1: 107,082,425 (GRCm39) S280T probably benign Het
Sh3d21 A G 4: 126,056,625 (GRCm39) S66P probably benign Het
Sh3yl1 T C 12: 31,009,841 (GRCm39) S253P probably benign Het
Smarca2 A G 19: 26,668,749 (GRCm39) E916G probably damaging Het
Sptbn1 A G 11: 30,169,686 (GRCm39) I14T possibly damaging Het
Supt16 A T 14: 52,412,816 (GRCm39) M559K probably benign Het
Tas1r2 A G 4: 139,396,886 (GRCm39) T742A probably damaging Het
Tbc1d5 T C 17: 51,107,156 (GRCm39) K467E probably damaging Het
Tet3 A G 6: 83,380,401 (GRCm39) V589A probably damaging Het
Tmem131 A G 1: 36,847,902 (GRCm39) probably benign Het
Tmtc3 A G 10: 100,283,437 (GRCm39) F706S probably benign Het
Tsku T C 7: 98,001,746 (GRCm39) N195S probably damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vmn2r85 T A 10: 130,254,758 (GRCm39) H642L probably damaging Het
Zfc3h1 A G 10: 115,246,428 (GRCm39) 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
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'- TGATCTTGCAGTGATTTCTATTGTAT -3'
(R):5'- AGCAGCTTTAAGTCTTAACAAAAGA -3'

Sequencing Primer
(F):5'- ACAGATCAGGAAATGAGAATGCCTTG -3'
(R):5'- CATGTATTGCAGCCTAGG -3'
Posted On 2015-02-18