Incidental Mutation 'R0331:Atf7ip'
ID 26049
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 038540-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # R0331 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 136495787-136587848 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136538161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 465 (T465A)
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: T465A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000032335
Gene: ENSMUSG00000030213
AA Change: T465A

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: T465A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140458
Gene: ENSMUSG00000030213
AA Change: T465A

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 possibly damaging
Transcript: ENSMUST00000187429
AA Change: T473A

PolyPhen 2 Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140502
Gene: ENSMUSG00000030213
AA Change: T473A

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
Predicted Effect unknown
Transcript: ENSMUST00000203178
AA Change: T107A
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 0.0615 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.8%
  • 20x: 91.7%
Validation Efficiency 100% (81/81)
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
1700011L22Rik T A 8: 79,956,021 (GRCm39) T79S probably benign Het
Abtb1 T C 6: 88,817,684 (GRCm39) probably benign Het
Acot12 G A 13: 91,908,183 (GRCm39) probably null Het
Adamts4 T A 1: 171,078,541 (GRCm39) S54T probably benign Het
Adgrl4 T C 3: 151,203,577 (GRCm39) S96P probably benign Het
Aip G T 19: 4,168,247 (GRCm39) T40K probably damaging Het
Anapc4 A G 5: 53,012,984 (GRCm39) probably benign Het
Asz1 A G 6: 18,103,618 (GRCm39) probably benign Het
Atp11a C T 8: 12,866,953 (GRCm39) Q127* probably null Het
Axin1 A G 17: 26,362,081 (GRCm39) R142G probably damaging Het
Bcat1 T A 6: 144,993,040 (GRCm39) E86V probably benign Het
Brd4 G A 17: 32,421,489 (GRCm39) P749L probably benign Het
C1ra G A 6: 124,496,394 (GRCm39) probably null Het
Capza2 A T 6: 17,665,102 (GRCm39) N237I probably benign Het
Cd2ap A T 17: 43,116,192 (GRCm39) V556E probably benign Het
Cfap65 G A 1: 74,968,460 (GRCm39) P124L probably damaging Het
Cfap65 G T 1: 74,968,461 (GRCm39) P124T probably damaging Het
Cftr T C 6: 18,235,225 (GRCm39) V488A possibly damaging Het
Ckmt1 A T 2: 121,193,337 (GRCm39) probably null Het
Cmya5 T G 13: 93,280,911 (GRCm39) E35A possibly damaging Het
Col7a1 A G 9: 108,796,570 (GRCm39) probably benign Het
Crmp1 C T 5: 37,422,657 (GRCm39) L155F possibly damaging Het
Cyp2d10 T A 15: 82,291,227 (GRCm39) T33S probably benign Het
Dhdh T C 7: 45,137,544 (GRCm39) K48E probably benign Het
Dlst T C 12: 85,165,586 (GRCm39) V103A probably damaging Het
Dohh C T 10: 81,223,646 (GRCm39) T233I probably benign Het
Dvl2 C A 11: 69,897,043 (GRCm39) probably benign Het
Eipr1 C T 12: 28,914,703 (GRCm39) Q286* probably null Het
Enpp6 C A 8: 47,535,484 (GRCm39) T343K probably damaging Het
Fbxw11 T A 11: 32,661,895 (GRCm39) F112I probably damaging Het
Gdpd4 T A 7: 97,622,215 (GRCm39) N231K probably benign Het
Gm6370 A T 5: 146,430,576 (GRCm39) T254S probably benign Het
Hapln4 G T 8: 70,537,159 (GRCm39) Q31H probably damaging Het
Hic1 T A 11: 75,056,316 (GRCm39) T858S possibly damaging Het
Isg20l2 T C 3: 87,839,092 (GRCm39) L101P probably damaging Het
Itga10 T C 3: 96,559,799 (GRCm39) Y485H probably damaging Het
Itgal T A 7: 126,905,853 (GRCm39) probably null Het
Itln1 T C 1: 171,359,117 (GRCm39) N62S probably damaging Het
Kdm4b T C 17: 56,693,289 (GRCm39) probably benign Het
Lct T C 1: 128,226,479 (GRCm39) probably benign Het
Lman2 A T 13: 55,500,829 (GRCm39) H123Q probably damaging Het
Lztr1 T A 16: 17,342,101 (GRCm39) probably benign Het
Myo3b G T 2: 69,925,605 (GRCm39) G24V probably damaging Het
Nacad T A 11: 6,549,441 (GRCm39) Q1250L possibly damaging Het
Ncor2 A T 5: 125,161,981 (GRCm39) M431K unknown Het
Nek9 T A 12: 85,374,149 (GRCm39) probably benign Het
Neu1 C A 17: 35,153,146 (GRCm39) N255K possibly damaging Het
Nf2 T A 11: 4,744,914 (GRCm39) T75S probably benign Het
Nipal4 T A 11: 46,041,040 (GRCm39) D385V probably damaging Het
Olah T A 2: 3,343,511 (GRCm39) N245I probably damaging Het
Or5p54 G T 7: 107,554,077 (GRCm39) L76F probably benign Het
Pag1 T A 3: 9,767,030 (GRCm39) T90S probably benign Het
Pald1 A G 10: 61,176,708 (GRCm39) probably null Het
Parva A G 7: 112,144,005 (GRCm39) M98V probably benign Het
Paxbp1 T A 16: 90,834,255 (GRCm39) D177V possibly damaging Het
Paxip1 A G 5: 27,970,230 (GRCm39) I587T probably damaging Het
Pclo T C 5: 14,730,390 (GRCm39) probably benign Het
Pdgfra T A 5: 75,355,713 (GRCm39) D1074E probably damaging Het
Pef1 A T 4: 130,021,241 (GRCm39) D265V probably damaging Het
Plekhh2 G A 17: 84,893,794 (GRCm39) E870K possibly damaging Het
Plscr4 G A 9: 92,364,695 (GRCm39) G40D probably damaging Het
Psg18 A G 7: 18,087,233 (GRCm39) Y142H probably benign Het
Ptchd3 A T 11: 121,733,017 (GRCm39) M636L probably benign Het
Rab2a A G 4: 8,572,559 (GRCm39) D51G probably benign Het
Rnf139 T A 15: 58,771,755 (GRCm39) D593E probably benign Het
Septin7 A G 9: 25,217,552 (GRCm39) N422S probably benign Het
Shprh T C 10: 11,069,914 (GRCm39) probably benign Het
Slc7a6os A G 8: 106,937,199 (GRCm39) I87T probably damaging Het
Slc7a7 A G 14: 54,615,381 (GRCm39) probably benign Het
Spc24 G T 9: 21,668,609 (GRCm39) N129K possibly damaging Het
Strip2 C T 6: 29,926,559 (GRCm39) T148I probably benign Het
Tmem150c A C 5: 100,234,132 (GRCm39) probably null Het
Trav13-5 A G 14: 54,033,205 (GRCm39) N38S probably benign Het
Ttn G T 2: 76,641,364 (GRCm39) Y11801* probably null Het
Usp37 A T 1: 74,493,223 (GRCm39) L688* probably null Het
Usp38 T C 8: 81,722,469 (GRCm39) I351V probably benign Het
Vav2 T A 2: 27,186,187 (GRCm39) M223L probably benign Het
Wdr36 A G 18: 32,985,968 (GRCm39) I557M possibly damaging Het
Wwc2 A T 8: 48,333,239 (GRCm39) M259K probably benign Het
Znfx1 G A 2: 166,888,898 (GRCm39) S770L 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
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
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'- AGTTTGTGAAGCAGGTCCTGACCC -3'
(R):5'- GCCGAAAGAGCCCTCCATTTTATCC -3'

Sequencing Primer
(F):5'- AGGTCCTGACCCTGACAAG -3'
(R):5'- CTCCAAATCTTGACTTGTTTCGACTG -3'
Posted On 2013-04-16