Incidental Mutation 'IGL02301:Atf7ip2'
ID 290297
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 # IGL02301
Quality Score
Status
Chromosome 16
Chromosomal Location 10010513-10068595 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 10028911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 148 (S148A)
Ref Sequence ENSEMBL: ENSMUSP00000113573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044005] [ENSMUST00000100191] [ENSMUST00000117220] [ENSMUST00000119023] [ENSMUST00000230872]
AlphaFold Q3UL97
Predicted Effect probably benign
Transcript: ENSMUST00000044005
AA Change: S148A

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000036731
Gene: ENSMUSG00000039200
AA Change: S148A

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: ENSMUST00000100191
AA Change: S148A

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097766
Gene: ENSMUSG00000039200
AA Change: S148A

DomainStartEndE-ValueType
low complexity region 180 192 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117220
AA Change: S148A

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113573
Gene: ENSMUSG00000039200
AA Change: S148A

DomainStartEndE-ValueType
low complexity region 180 192 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119023
AA Change: S148A

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000113480
Gene: ENSMUSG00000039200
AA Change: S148A

DomainStartEndE-ValueType
low complexity region 180 192 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133674
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230210
Predicted Effect probably benign
Transcript: ENSMUST00000230872
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l A G 17: 32,551,900 (GRCm39) probably benign Het
Alk T C 17: 72,181,171 (GRCm39) Q1373R probably damaging Het
Bpi C T 2: 158,116,734 (GRCm39) S377F probably damaging Het
Ccni A T 5: 93,336,034 (GRCm39) C122S possibly damaging Het
Cd5l A G 3: 87,273,300 (GRCm39) R90G probably benign Het
Ceacam3 C T 7: 16,897,026 (GRCm39) S664F probably damaging Het
Clca3a2 A T 3: 144,512,133 (GRCm39) D534E probably damaging Het
Ep400 A T 5: 110,822,826 (GRCm39) S2524R probably damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Gart A G 16: 91,418,725 (GRCm39) probably benign Het
Gsdmc4 A G 15: 63,767,113 (GRCm39) V219A probably benign Het
Hus1 T C 11: 8,946,915 (GRCm39) T261A probably benign Het
Lman2l A G 1: 36,482,624 (GRCm39) I84T probably damaging Het
Megf8 G A 7: 25,037,325 (GRCm39) V742M probably damaging Het
Myo1d A G 11: 80,567,679 (GRCm39) V267A probably benign Het
Notch2 A G 3: 98,048,870 (GRCm39) T1803A probably benign Het
Or1e17 T A 11: 73,831,894 (GRCm39) M274K possibly damaging Het
Or4f54 T A 2: 111,123,042 (GRCm39) M143K probably benign Het
Or6c70 A G 10: 129,709,948 (GRCm39) F226S probably damaging Het
Pate11 T C 9: 36,388,483 (GRCm39) probably benign Het
Pde5a G A 3: 122,554,534 (GRCm39) R208Q probably damaging Het
Pla2r1 T C 2: 60,282,780 (GRCm39) N745S probably benign Het
Ptgdr2 T A 19: 10,917,573 (GRCm39) I30N possibly damaging Het
Rap1gap2 G A 11: 74,298,195 (GRCm39) T415I probably damaging Het
Slc6a6 T C 6: 91,703,037 (GRCm39) Y137H probably benign Het
Sptbn1 A T 11: 30,092,129 (GRCm39) D532E probably damaging Het
Stk39 T C 2: 68,042,306 (GRCm39) D543G probably damaging Het
Trpc4 G A 3: 54,198,653 (GRCm39) V526M probably damaging Het
Trrap A G 5: 144,714,727 (GRCm39) I100V probably benign Het
Vmn1r-ps123 A C 13: 23,180,527 (GRCm39) noncoding transcript Het
Vwa5b2 G A 16: 20,423,540 (GRCm39) G1151D probably damaging Het
Zfp358 T A 8: 3,546,858 (GRCm39) I480N probably benign Het
Zfp423 T C 8: 88,508,202 (GRCm39) D714G probably damaging Het
Other mutations in Atf7ip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01926:Atf7ip2 APN 16 10,059,749 (GRCm39) missense probably damaging 0.99
IGL01937:Atf7ip2 APN 16 10,059,401 (GRCm39) splice site probably null
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 2015-04-16