Incidental Mutation 'IGL02301:Atf7ip2'
ID290297
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atf7ip2
Ensembl Gene ENSMUSG00000039200
Gene Nameactivating transcription factor 7 interacting protein 2
Synonyms4930558K11Rik, PSM2, Get-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.170) question?
Stock #IGL02301
Quality Score
Status
Chromosome16
Chromosomal Location10192712-10251478 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 10211047 bp
ZygosityHeterozygous
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]
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: 32,332,926 probably benign Het
Alk T C 17: 71,874,176 Q1373R probably damaging Het
Bpi C T 2: 158,274,814 S377F probably damaging Het
Ccni A T 5: 93,188,175 C122S possibly damaging Het
Cd5l A G 3: 87,365,993 R90G probably benign Het
Ceacam3 C T 7: 17,163,101 S664F probably damaging Het
Clca3a2 A T 3: 144,806,372 D534E probably damaging Het
Ep400 A T 5: 110,674,960 S2524R probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gart A G 16: 91,621,837 probably benign Het
Gm9513 T C 9: 36,477,187 probably benign Het
Gsdmc4 A G 15: 63,895,264 V219A probably benign Het
Hus1 T C 11: 8,996,915 T261A probably benign Het
Lman2l A G 1: 36,443,543 I84T probably damaging Het
Megf8 G A 7: 25,337,900 V742M probably damaging Het
Myo1d A G 11: 80,676,853 V267A probably benign Het
Notch2 A G 3: 98,141,554 T1803A probably benign Het
Olfr1278 T A 2: 111,292,697 M143K probably benign Het
Olfr23 T A 11: 73,941,068 M274K possibly damaging Het
Olfr814 A G 10: 129,874,079 F226S probably damaging Het
Pde5a G A 3: 122,760,885 R208Q probably damaging Het
Pla2r1 T C 2: 60,452,436 N745S probably benign Het
Ptgdr2 T A 19: 10,940,209 I30N possibly damaging Het
Rap1gap2 G A 11: 74,407,369 T415I probably damaging Het
Slc6a6 T C 6: 91,726,056 Y137H probably benign Het
Sptbn1 A T 11: 30,142,129 D532E probably damaging Het
Stk39 T C 2: 68,211,962 D543G probably damaging Het
Trpc4 G A 3: 54,291,232 V526M probably damaging Het
Trrap A G 5: 144,777,917 I100V probably benign Het
Vmn1r-ps123 A C 13: 22,996,357 noncoding transcript Het
Vwa5b2 G A 16: 20,604,790 G1151D probably damaging Het
Zfp358 T A 8: 3,496,858 I480N probably benign Het
Zfp423 T C 8: 87,781,574 D714G probably damaging Het
Other mutations in Atf7ip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01926:Atf7ip2 APN 16 10241885 missense probably damaging 0.99
IGL01937:Atf7ip2 APN 16 10241537 splice site probably null
R0575:Atf7ip2 UTSW 16 10237211 missense probably damaging 1.00
R0671:Atf7ip2 UTSW 16 10241879 missense possibly damaging 0.86
R1119:Atf7ip2 UTSW 16 10240612 missense possibly damaging 0.83
R1182:Atf7ip2 UTSW 16 10241835 missense possibly damaging 0.93
R1302:Atf7ip2 UTSW 16 10240608 missense possibly damaging 0.84
R1346:Atf7ip2 UTSW 16 10234331 missense probably damaging 1.00
R1349:Atf7ip2 UTSW 16 10234331 missense probably damaging 1.00
R1372:Atf7ip2 UTSW 16 10234331 missense probably damaging 1.00
R1672:Atf7ip2 UTSW 16 10209141 missense probably damaging 1.00
R1696:Atf7ip2 UTSW 16 10234331 missense probably damaging 1.00
R1897:Atf7ip2 UTSW 16 10211084 missense probably damaging 0.97
R1932:Atf7ip2 UTSW 16 10241703 missense possibly damaging 0.86
R2143:Atf7ip2 UTSW 16 10240645 missense probably null 0.68
R4612:Atf7ip2 UTSW 16 10241563 missense probably benign 0.33
R4732:Atf7ip2 UTSW 16 10241886 missense possibly damaging 0.92
R4733:Atf7ip2 UTSW 16 10241886 missense possibly damaging 0.92
R4934:Atf7ip2 UTSW 16 10241583 missense possibly damaging 0.72
R6137:Atf7ip2 UTSW 16 10201411 missense probably damaging 0.99
R6432:Atf7ip2 UTSW 16 10204670 missense probably damaging 1.00
R7298:Atf7ip2 UTSW 16 10209168 missense possibly damaging 0.82
R7517:Atf7ip2 UTSW 16 10241535 splice site probably null
U24488:Atf7ip2 UTSW 16 10204673 missense probably damaging 0.96
X0062:Atf7ip2 UTSW 16 10209274 splice site probably null
Posted On2015-04-16