Incidental Mutation 'IGL01926:Atf7ip2'
ID180301
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 #IGL01926
Quality Score
Status
Chromosome16
Chromosomal Location10192712-10251478 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 10241885 bp
ZygosityHeterozygous
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]
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: 110,135,329 probably benign Het
Ano1 C T 7: 144,610,875 V671M possibly damaging Het
Atp7b A T 8: 22,011,781 D740E probably damaging Het
Bbs1 A C 19: 4,902,863 S191A probably benign Het
Capn5 C T 7: 98,128,472 probably null Het
Cyp2c40 A G 19: 39,802,655 I244T probably benign Het
Dsg1a G T 18: 20,333,584 D504Y possibly damaging Het
Eif3a T C 19: 60,769,961 D793G unknown Het
Exoc4 C A 6: 33,862,142 D704E probably damaging Het
Fmo5 A C 3: 97,637,481 T109P probably damaging Het
Ggt5 A G 10: 75,604,101 I179V probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Irs1 G T 1: 82,289,959 R179S probably damaging Het
Jmy A T 13: 93,459,786 V445E probably damaging Het
Jup C A 11: 100,383,586 V93F probably benign Het
Krt20 T C 11: 99,437,826 Y91C probably damaging Het
Mug2 T A 6: 122,036,104 probably benign Het
Mybpc3 C T 2: 91,135,407 T1188I possibly damaging Het
Myt1 T C 2: 181,821,997 L1032P probably benign Het
Naip6 A T 13: 100,300,196 N606K probably damaging Het
Nfrkb A T 9: 31,414,179 M973L probably benign Het
Olfr1109 C T 2: 87,092,974 C141Y probably damaging Het
Olfr1477 A T 19: 13,502,741 T133S possibly damaging Het
Parp8 T C 13: 116,862,302 probably benign Het
Plekha5 T A 6: 140,525,916 M131K probably benign Het
Pomt1 T A 2: 32,243,472 S207T probably benign Het
Prlr T A 15: 10,314,220 M1K probably null Het
Prr15 A G 6: 54,329,505 K83E probably damaging Het
Rnf4 A G 5: 34,346,779 N5S probably benign Het
Sel1l3 T A 5: 53,200,143 H169L probably benign Het
Slc24a5 A G 2: 125,068,903 I85V probably benign Het
Tmc2 T C 2: 130,260,240 I775T possibly damaging Het
Trnau1ap A T 4: 132,319,562 F141L probably benign Het
Zscan4d A G 7: 11,164,994 C119R probably damaging Het
Zswim9 A T 7: 13,260,321 V636D possibly damaging Het
Other mutations in Atf7ip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01937:Atf7ip2 APN 16 10241537 splice site probably null
IGL02301:Atf7ip2 APN 16 10211047 missense probably benign 0.32
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 On2014-05-07