Incidental Mutation 'R5891:Atf7ip'
ID 457176
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 044092-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.918) question?
Stock # R5891 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 136495787-136587848 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 136536975 bp (GRCm39)
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]
AlphaFold Q7TT18
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

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 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

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 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

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 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: ENSMUST00000203988
SMART Domains Protein: ENSMUSP00000145022
Gene: ENSMUSG00000030213

DomainStartEndE-ValueType
Pfam:ATF7IP_BD 3 73 1.6e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203178
Meta Mutation Damage Score 0.0788 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A T 16: 56,426,496 (GRCm39) T504S probably damaging Het
Adamtsl4 C A 3: 95,589,623 (GRCm39) R387L possibly damaging Het
Adgb G A 10: 10,253,591 (GRCm39) Q1224* probably null Het
Ankrd40 T A 11: 94,225,689 (GRCm39) F240Y probably damaging Het
Asnsd1 A T 1: 53,387,136 (GRCm39) Y164N probably benign Het
Atm T C 9: 53,408,459 (GRCm39) T1129A probably benign Het
Atosa C G 9: 74,911,668 (GRCm39) C46W probably damaging Het
AU021092 T C 16: 5,029,995 (GRCm39) D340G probably benign Het
Baz2a T A 10: 127,957,191 (GRCm39) I978N probably damaging Het
BC034090 T C 1: 155,108,793 (GRCm39) probably benign Het
Bcl9 A G 3: 97,116,204 (GRCm39) L830P probably damaging Het
Bicral T C 17: 47,112,155 (GRCm39) N1015S probably benign Het
Ccdc9b T A 2: 118,591,864 (GRCm39) D92V probably damaging Het
Ceacam3 C A 7: 16,885,718 (GRCm39) T107N probably damaging Het
Cep83 T C 10: 94,561,537 (GRCm39) V109A probably benign Het
Ces1e A G 8: 93,929,894 (GRCm39) V463A possibly damaging Het
Ciao1 A G 2: 127,089,054 (GRCm39) V55A probably benign Het
Col19a1 T C 1: 24,328,806 (GRCm39) E900G probably damaging Het
Commd3 A G 2: 18,678,626 (GRCm39) probably benign Het
Coro1c A G 5: 113,988,872 (GRCm39) I157T probably damaging Het
Cplane1 A G 15: 8,218,073 (GRCm39) I828V probably benign Het
Ctso T A 3: 81,861,561 (GRCm39) F311L probably benign Het
Cxcl10 A G 5: 92,496,083 (GRCm39) probably benign Het
Daam1 C A 12: 71,990,923 (GRCm39) T179N unknown Het
Ddx24 T C 12: 103,390,317 (GRCm39) K225E probably damaging Het
Dnajc16 T C 4: 141,502,703 (GRCm39) T278A probably benign Het
Dnajc2 A T 5: 21,966,709 (GRCm39) N345K possibly damaging Het
Dnpep G T 1: 75,288,456 (GRCm39) Q395K probably benign Het
Dync1h1 T C 12: 110,580,654 (GRCm39) probably null Het
Exoc1 A G 5: 76,689,991 (GRCm39) D177G probably damaging Het
Fam135b C T 15: 71,397,652 (GRCm39) R136H probably damaging Het
Filip1 T G 9: 79,727,142 (GRCm39) L492F possibly damaging Het
Flvcr2 A T 12: 85,843,002 (GRCm39) I359F possibly damaging Het
Gmcl1 A G 6: 86,684,425 (GRCm39) W366R probably damaging Het
Htt A G 5: 35,028,167 (GRCm39) T1808A possibly damaging Het
Ighv5-4 C A 12: 113,561,249 (GRCm39) R57L probably damaging Het
Il12rb2 A T 6: 67,337,674 (GRCm39) I69N probably damaging Het
Irf5 A T 6: 29,529,424 (GRCm39) probably benign Het
Kif13b T G 14: 65,025,854 (GRCm39) probably null Het
Klkb1 T A 8: 45,723,703 (GRCm39) T571S probably benign Het
Mapkbp1 G T 2: 119,854,413 (GRCm39) E1337* probably null Het
Met A G 6: 17,491,538 (GRCm39) D100G probably benign Het
Mgam T A 6: 40,721,282 (GRCm39) D183E probably benign Het
Mrgprb13 T C 7: 47,962,007 (GRCm39) noncoding transcript Het
Mrgprx2 T C 7: 48,131,994 (GRCm39) T275A probably benign Het
Mroh2a C A 1: 88,169,337 (GRCm39) Q671K possibly damaging Het
Nckipsd T A 9: 108,685,808 (GRCm39) S42R probably damaging Het
Nlrp12 T A 7: 3,267,933 (GRCm39) probably benign Het
Or12j2 C T 7: 139,916,513 (GRCm39) T246I probably benign Het
Or12k8 T A 2: 36,974,990 (GRCm39) M257L probably benign Het
Or4k47 A T 2: 111,451,778 (GRCm39) L214M probably damaging Het
Or5p5 C T 7: 107,414,387 (GRCm39) P199S probably damaging Het
Otoa T A 7: 120,731,583 (GRCm39) probably null Het
Pfkm T A 15: 98,020,571 (GRCm39) C233* probably null Het
Pikfyve A G 1: 65,241,896 (GRCm39) Y212C probably damaging Het
Ptprq T A 10: 107,412,756 (GRCm39) D1781V possibly damaging Het
Pttg1ip A G 10: 77,418,274 (GRCm39) probably benign Het
Rab6a T A 7: 100,288,454 (GRCm39) probably null Het
Rbm11 C T 16: 75,395,725 (GRCm39) A132V possibly damaging Het
Septin4 G T 11: 87,479,750 (GRCm39) probably benign Het
Serpinb8 A G 1: 107,533,575 (GRCm39) E210G probably damaging Het
Sertad2 G A 11: 20,597,884 (GRCm39) G27S probably benign Het
Slco5a1 A G 1: 13,060,626 (GRCm39) F32L probably benign Het
Smad2 A G 18: 76,433,046 (GRCm39) E326G probably damaging Het
Sp9 T A 2: 73,104,595 (GRCm39) L383Q probably damaging Het
Stx11 T C 10: 12,817,559 (GRCm39) N55S probably damaging Het
Tbc1d15 T A 10: 115,056,213 (GRCm39) Q253L probably benign Het
Tcf7l1 T A 6: 72,614,034 (GRCm39) probably benign Het
Tdrd9 T A 12: 112,009,153 (GRCm39) S1020T probably damaging Het
Tead3 A T 17: 28,560,339 (GRCm39) D88E probably damaging Het
Tnrc18 A G 5: 142,800,926 (GRCm39) S11P probably damaging Homo
Trpc3 G T 3: 36,725,171 (GRCm39) D268E probably damaging Het
Ttn A G 2: 76,576,085 (GRCm39) V23190A possibly damaging Het
Ubr4 T A 4: 139,135,937 (GRCm39) Y908* probably null Het
Urb2 G T 8: 124,757,595 (GRCm39) V1101L possibly damaging Het
Usp9y A T Y: 1,341,535 (GRCm39) D1375E probably benign Het
Zcchc7 T C 4: 44,895,838 (GRCm39) L262P probably damaging Het
Zdhhc7 T A 8: 120,811,639 (GRCm39) H188L probably benign Het
Zfp518a T A 19: 40,900,877 (GRCm39) C269S probably damaging Het
Zfp933 T C 4: 147,911,231 (GRCm39) K90E 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
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'- TTCAAGGCTCGGAAAACAATG -3'
(R):5'- GGGTTATCAGAGACTGGGGTAC -3'

Sequencing Primer
(F):5'- CAATGAGAGCGAGCGATCG -3'
(R):5'- CCAGAACCTGGTTCAGTGGTTAC -3'
Posted On 2017-02-15