Incidental Mutation 'R4922:Atf7ip'
ID 378693
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 042524-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.918) question?
Stock # R4922 (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 136537039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 91 (T91S)
Ref Sequence ENSEMBL: ENSMUSP00000139446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032335] [ENSMUST00000185724] [ENSMUST00000186577] [ENSMUST00000186742] [ENSMUST00000187429] [ENSMUST00000189535] [ENSMUST00000203988]
AlphaFold Q7TT18
Predicted Effect possibly damaging
Transcript: ENSMUST00000032335
AA Change: T91S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000032335
Gene: ENSMUSG00000030213
AA Change: T91S

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: ENSMUST00000185724
AA Change: T91S

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000140458
Gene: ENSMUSG00000030213
AA Change: T91S

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: T99S

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000140502
Gene: ENSMUSG00000030213
AA Change: T99S

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 possibly damaging
Transcript: ENSMUST00000189535
AA Change: T91S

PolyPhen 2 Score 0.913 (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

DomainStartEndE-ValueType
Pfam:ATF7IP_BD 3 73 1.6e-26 PFAM
Meta Mutation Damage Score 0.0684 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 97% (76/78)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 G T 4: 129,901,645 (GRCm39) C423F probably damaging Het
Akap11 A T 14: 78,750,220 (GRCm39) Y722* probably null Het
Albfm1 A G 5: 90,727,570 (GRCm39) H396R possibly damaging Het
Anxa3 A T 5: 96,968,288 (GRCm39) I114F probably damaging Het
Arfgef3 T A 10: 18,467,934 (GRCm39) R1755S probably damaging Het
Bcl2 C A 1: 106,640,376 (GRCm39) A79S probably benign Het
Bltp1 T A 3: 37,041,314 (GRCm39) I2564K probably damaging Het
Bmerb1 A G 16: 13,804,683 (GRCm39) H10R possibly damaging Het
Bmp10 C T 6: 87,410,557 (GRCm39) P117S probably benign Het
Bmpr2 A G 1: 59,906,583 (GRCm39) T559A probably benign Het
Cd200r1 A T 16: 44,610,039 (GRCm39) Y86F probably damaging Het
Cemip T A 7: 83,596,308 (GRCm39) probably benign Het
Cfap251 T C 5: 123,394,116 (GRCm39) V335A probably benign Het
Cfap52 A G 11: 67,822,548 (GRCm39) probably null Het
Chml T C 1: 175,514,712 (GRCm39) H60R possibly damaging Het
Cic TCCCCC TCCCCCCCC 7: 24,991,095 (GRCm39) probably benign Het
Clec12a A G 6: 129,336,441 (GRCm39) Y201C probably damaging Het
Col15a1 T C 4: 47,258,719 (GRCm39) V370A probably benign Het
Cpsf3 T C 12: 21,351,538 (GRCm39) I353T probably damaging Het
Csf2rb T A 15: 78,230,667 (GRCm39) V470E probably benign Het
Cyp4a10 C A 4: 115,378,291 (GRCm39) Q126K probably benign Het
Dennd1b T C 1: 139,013,652 (GRCm39) S249P probably damaging Het
Dnase2a A G 8: 85,635,625 (GRCm39) probably null Het
Dpp10 T C 1: 123,305,882 (GRCm39) N490S probably benign Het
Drgx A T 14: 32,330,363 (GRCm39) N160I probably damaging Het
Enc1 C T 13: 97,382,243 (GRCm39) A251V probably benign Het
Fancd2 T C 6: 113,562,434 (GRCm39) V1258A probably benign Het
Fancm G A 12: 65,153,666 (GRCm39) probably null Het
Fbxo16 C T 14: 65,536,657 (GRCm39) T177I probably benign Het
Gm1965 T C 6: 89,123,525 (GRCm39) noncoding transcript Het
Hal A T 10: 93,339,401 (GRCm39) M497L probably damaging Het
Hectd4 T C 5: 121,497,378 (GRCm39) L3936S possibly damaging Het
Hs3st4 G T 7: 123,996,410 (GRCm39) G359W probably damaging Het
Il6st C T 13: 112,639,399 (GRCm39) P608L probably damaging Het
Kctd18 A C 1: 58,004,707 (GRCm39) probably benign Het
Kntc1 T A 5: 123,940,309 (GRCm39) S1636T probably damaging Het
Lrrn1 A T 6: 107,545,311 (GRCm39) S370C probably damaging Het
Mtcl1 A C 17: 66,655,474 (GRCm39) C968G probably benign Het
Mylip G A 13: 45,562,238 (GRCm39) A347T probably damaging Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Ncoa4-ps A G 12: 119,226,252 (GRCm39) noncoding transcript Het
Neu4 T A 1: 93,950,200 (GRCm39) V53E probably damaging Het
Nxpe3 T C 16: 55,680,687 (GRCm39) I302V probably benign Het
Or11i1 A T 3: 106,729,576 (GRCm39) C100S probably damaging Het
Or4c15b A T 2: 89,112,811 (GRCm39) L243Q possibly damaging Het
Otos T C 1: 92,572,090 (GRCm39) T79A probably damaging Het
Pde4a T C 9: 21,122,009 (GRCm39) I578T probably damaging Het
Pramel17 T A 4: 101,692,729 (GRCm39) M424L probably benign Het
Prex2 C T 1: 11,240,164 (GRCm39) P927S probably damaging Het
Prune2 A T 19: 17,100,116 (GRCm39) K1873N probably benign Het
Ptk7 C A 17: 46,887,417 (GRCm39) probably null Het
Reln T A 5: 22,200,585 (GRCm39) probably null Het
Rgl2 A G 17: 34,151,749 (GRCm39) probably benign Het
Rnf145 T A 11: 44,448,063 (GRCm39) probably benign Het
Ryr2 T C 13: 11,724,849 (GRCm39) E2488G probably damaging Het
Sgo2b A T 8: 64,379,664 (GRCm39) M1056K possibly damaging Het
Snapc4 A G 2: 26,259,245 (GRCm39) V635A probably benign Het
Snx19 T A 9: 30,348,763 (GRCm39) Y101N probably benign Het
Sorl1 C A 9: 41,925,746 (GRCm39) probably null Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Speer4a2 A T 5: 26,289,791 (GRCm39) I212N probably damaging Het
Tmem30b G A 12: 73,592,488 (GRCm39) P209L probably damaging Het
Trbv12-2 G T 6: 41,096,081 (GRCm39) C52F probably damaging Het
Tsc2 T A 17: 24,819,343 (GRCm39) D1304V probably benign Het
Ugt2b36 T C 5: 87,214,183 (GRCm39) Y487C probably damaging Het
Vmn1r10 T A 6: 57,090,811 (GRCm39) N134K probably damaging Het
Wdr27 C A 17: 15,141,016 (GRCm39) probably null Het
Wdr75 T C 1: 45,855,638 (GRCm39) F430L probably damaging Het
Zfp629 A G 7: 127,211,299 (GRCm39) I170T probably damaging 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
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'- AGTCTTCAAGGCTCGGAAAAC -3'
(R):5'- GGGTTATCAGAGACTGGGGTAC -3'

Sequencing Primer
(F):5'- TCGATGCTGTGCACAGAGTC -3'
(R):5'- TACCACAGCCTGGGTTATCAGAG -3'
Posted On 2016-04-15