Incidental Mutation 'IGL01926:Atf7ip2'
ID 180301
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atf7ip2
Ensembl Gene ENSMUSG00000039200
Gene Name activating transcription factor 7 interacting protein 2
Synonyms 4930558K11Rik, PSM2, Get-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # IGL01926
Quality Score
Status
Chromosome 16
Chromosomal Location 10010513-10068595 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 10059749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 430 (D430Y)
Ref Sequence ENSEMBL: ENSMUSP00000036731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044005] [ENSMUST00000117220] [ENSMUST00000119023] [ENSMUST00000230872]
AlphaFold Q3UL97
Predicted Effect probably damaging
Transcript: ENSMUST00000044005
AA Change: D430Y

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000036731
Gene: ENSMUSG00000039200
AA Change: D430Y

DomainStartEndE-ValueType
Pfam:ATF7IP_BD 59 270 4.7e-75 PFAM
low complexity region 322 336 N/A INTRINSIC
FN3 346 435 7.55e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117220
SMART Domains Protein: ENSMUSP00000113573
Gene: ENSMUSG00000039200

DomainStartEndE-ValueType
low complexity region 180 192 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119023
SMART Domains Protein: ENSMUSP00000113480
Gene: ENSMUSG00000039200

DomainStartEndE-ValueType
low complexity region 180 192 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158938
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229819
Predicted Effect probably benign
Transcript: ENSMUST00000230872
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 C T 11: 110,026,155 (GRCm39) probably benign Het
Ano1 C T 7: 144,164,612 (GRCm39) V671M possibly damaging Het
Atp7b A T 8: 22,501,797 (GRCm39) D740E probably damaging Het
Bbs1 A C 19: 4,952,891 (GRCm39) S191A probably benign Het
Capn5 C T 7: 97,777,679 (GRCm39) probably null Het
Cyp2c40 A G 19: 39,791,099 (GRCm39) I244T probably benign Het
Dsg1a G T 18: 20,466,641 (GRCm39) D504Y possibly damaging Het
Eif3a T C 19: 60,758,399 (GRCm39) D793G unknown Het
Exoc4 C A 6: 33,839,077 (GRCm39) D704E probably damaging Het
Fmo5 A C 3: 97,544,797 (GRCm39) T109P probably damaging Het
Ggt5 A G 10: 75,439,935 (GRCm39) I179V probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Irs1 G T 1: 82,267,680 (GRCm39) R179S probably damaging Het
Jmy A T 13: 93,596,294 (GRCm39) V445E probably damaging Het
Jup C A 11: 100,274,412 (GRCm39) V93F probably benign Het
Krt20 T C 11: 99,328,652 (GRCm39) Y91C probably damaging Het
Mug2 T A 6: 122,013,063 (GRCm39) probably benign Het
Mybpc3 C T 2: 90,965,752 (GRCm39) T1188I possibly damaging Het
Myt1 T C 2: 181,463,790 (GRCm39) L1032P probably benign Het
Naip6 A T 13: 100,436,704 (GRCm39) N606K probably damaging Het
Nfrkb A T 9: 31,325,475 (GRCm39) M973L probably benign Het
Or5aq6 C T 2: 86,923,318 (GRCm39) C141Y probably damaging Het
Or5b120 A T 19: 13,480,105 (GRCm39) T133S possibly damaging Het
Parp8 T C 13: 116,998,838 (GRCm39) probably benign Het
Plekha5 T A 6: 140,471,642 (GRCm39) M131K probably benign Het
Pomt1 T A 2: 32,133,484 (GRCm39) S207T probably benign Het
Prlr T A 15: 10,314,306 (GRCm39) M1K probably null Het
Prr15 A G 6: 54,306,490 (GRCm39) K83E probably damaging Het
Rnf4 A G 5: 34,504,123 (GRCm39) N5S probably benign Het
Sel1l3 T A 5: 53,357,485 (GRCm39) H169L probably benign Het
Slc24a5 A G 2: 124,910,823 (GRCm39) I85V probably benign Het
Tmc2 T C 2: 130,102,160 (GRCm39) I775T possibly damaging Het
Trnau1ap A T 4: 132,046,873 (GRCm39) F141L probably benign Het
Zscan4d A G 7: 10,898,921 (GRCm39) C119R probably damaging Het
Zswim9 A T 7: 12,994,248 (GRCm39) V636D possibly damaging Het
Other mutations in Atf7ip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01937:Atf7ip2 APN 16 10,059,401 (GRCm39) splice site probably null
IGL02301:Atf7ip2 APN 16 10,028,911 (GRCm39) missense probably benign 0.32
R0575:Atf7ip2 UTSW 16 10,055,075 (GRCm39) missense probably damaging 1.00
R0671:Atf7ip2 UTSW 16 10,059,743 (GRCm39) missense possibly damaging 0.86
R1119:Atf7ip2 UTSW 16 10,058,476 (GRCm39) missense possibly damaging 0.83
R1182:Atf7ip2 UTSW 16 10,059,699 (GRCm39) missense possibly damaging 0.93
R1302:Atf7ip2 UTSW 16 10,058,472 (GRCm39) missense possibly damaging 0.84
R1346:Atf7ip2 UTSW 16 10,052,195 (GRCm39) missense probably damaging 1.00
R1349:Atf7ip2 UTSW 16 10,052,195 (GRCm39) missense probably damaging 1.00
R1372:Atf7ip2 UTSW 16 10,052,195 (GRCm39) missense probably damaging 1.00
R1672:Atf7ip2 UTSW 16 10,027,005 (GRCm39) missense probably damaging 1.00
R1696:Atf7ip2 UTSW 16 10,052,195 (GRCm39) missense probably damaging 1.00
R1897:Atf7ip2 UTSW 16 10,028,948 (GRCm39) missense probably damaging 0.97
R1932:Atf7ip2 UTSW 16 10,059,567 (GRCm39) missense possibly damaging 0.86
R2143:Atf7ip2 UTSW 16 10,058,509 (GRCm39) missense probably null 0.68
R4612:Atf7ip2 UTSW 16 10,059,427 (GRCm39) missense probably benign 0.33
R4732:Atf7ip2 UTSW 16 10,059,750 (GRCm39) missense possibly damaging 0.92
R4733:Atf7ip2 UTSW 16 10,059,750 (GRCm39) missense possibly damaging 0.92
R4934:Atf7ip2 UTSW 16 10,059,447 (GRCm39) missense possibly damaging 0.72
R6137:Atf7ip2 UTSW 16 10,019,275 (GRCm39) missense probably damaging 0.99
R6432:Atf7ip2 UTSW 16 10,022,534 (GRCm39) missense probably damaging 1.00
R7298:Atf7ip2 UTSW 16 10,027,032 (GRCm39) missense possibly damaging 0.82
R7517:Atf7ip2 UTSW 16 10,059,399 (GRCm39) splice site probably null
R7744:Atf7ip2 UTSW 16 10,059,522 (GRCm39) missense possibly damaging 0.93
R8124:Atf7ip2 UTSW 16 10,026,999 (GRCm39) missense possibly damaging 0.67
R8245:Atf7ip2 UTSW 16 10,019,262 (GRCm39) missense possibly damaging 0.93
R8527:Atf7ip2 UTSW 16 10,055,129 (GRCm39) intron probably benign
R9329:Atf7ip2 UTSW 16 10,059,738 (GRCm39) missense possibly damaging 0.51
R9566:Atf7ip2 UTSW 16 10,044,893 (GRCm39) missense probably benign 0.01
R9670:Atf7ip2 UTSW 16 10,058,512 (GRCm39) missense probably benign 0.00
R9779:Atf7ip2 UTSW 16 10,055,044 (GRCm39) missense possibly damaging 0.85
U24488:Atf7ip2 UTSW 16 10,022,537 (GRCm39) missense probably damaging 0.96
X0062:Atf7ip2 UTSW 16 10,027,138 (GRCm39) splice site probably null
Z1177:Atf7ip2 UTSW 16 10,059,504 (GRCm39) missense possibly damaging 0.52
Posted On 2014-05-07