Incidental Mutation 'R1346:Atf7ip2'
ID 156521
Institutional Source Beutler Lab
Gene Symbol Atf7ip2
Ensembl Gene ENSMUSG00000039200
Gene Name activating transcription factor 7 interacting protein 2
Synonyms 4930558K11Rik, PSM2, Get-1
MMRRC Submission 039411-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R1346 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 10010513-10068595 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 10052195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 225 (V225I)
Ref Sequence ENSEMBL: ENSMUSP00000113480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044005] [ENSMUST00000117220] [ENSMUST00000119023] [ENSMUST00000230872]
AlphaFold Q3UL97
Predicted Effect possibly damaging
Transcript: ENSMUST00000044005
AA Change: V225I

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000036731
Gene: ENSMUSG00000039200
AA Change: V225I

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 possibly damaging
Transcript: ENSMUST00000117220
AA Change: V225I

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113573
Gene: ENSMUSG00000039200
AA Change: V225I

DomainStartEndE-ValueType
low complexity region 180 192 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119023
AA Change: V225I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113480
Gene: ENSMUSG00000039200
AA Change: V225I

DomainStartEndE-ValueType
low complexity region 180 192 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158938
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229819
Predicted Effect possibly damaging
Transcript: ENSMUST00000230872
AA Change: V8I

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.0661 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 90.1%
Validation Efficiency 98% (43/44)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik C A 14: 32,382,771 (GRCm39) A1065S probably benign Het
Ak5 G T 3: 152,239,071 (GRCm39) D301E probably damaging Het
Akap13 G A 7: 75,259,340 (GRCm39) G655S possibly damaging Het
Arap3 A T 18: 38,108,971 (GRCm39) C1228S probably damaging Het
Arfgef1 T C 1: 10,229,958 (GRCm39) T1248A probably benign Het
Bdp1 G A 13: 100,215,263 (GRCm39) Q374* probably null Het
Cacng6 G T 7: 3,483,438 (GRCm39) W255C possibly damaging Het
Camta2 T C 11: 70,567,293 (GRCm39) K628R possibly damaging Het
Catsperg1 A T 7: 28,881,759 (GRCm39) probably null Het
Cers4 A G 8: 4,565,632 (GRCm39) E26G probably damaging Het
Chfr A G 5: 110,288,313 (GRCm39) D76G probably damaging Het
Chrng C A 1: 87,135,985 (GRCm39) Q245K probably benign Het
Cnn2 T C 10: 79,829,414 (GRCm39) probably benign Het
Dyrk2 T C 10: 118,695,624 (GRCm39) K545E possibly damaging Het
Eif3d A G 15: 77,852,754 (GRCm39) I9T probably damaging Het
Elovl7 A G 13: 108,410,883 (GRCm39) I153V probably benign Het
Etl4 T C 2: 20,810,955 (GRCm39) S1013P possibly damaging Het
Furin C T 7: 80,041,932 (GRCm39) probably benign Het
Gart G T 16: 91,425,070 (GRCm39) probably null Het
Gm572 G A 4: 148,739,354 (GRCm39) V61M possibly damaging Het
Hspbap1 G A 16: 35,622,035 (GRCm39) A127T probably damaging Het
Kcnh2 T C 5: 24,527,658 (GRCm39) D898G possibly damaging Het
Kcnrg A G 14: 61,849,144 (GRCm39) T202A probably benign Het
Lhx1 T C 11: 84,412,905 (GRCm39) E36G possibly damaging Het
Lrp1 T C 10: 127,441,735 (GRCm39) N167S probably damaging Het
Parp9 A T 16: 35,777,267 (GRCm39) M171L probably benign Het
Pla2g4e G A 2: 120,013,253 (GRCm39) R356W probably damaging Het
Ppp4c C T 7: 126,391,222 (GRCm39) probably benign Het
Rab3c G A 13: 110,397,120 (GRCm39) R49C probably damaging Het
Rbm25 T C 12: 83,691,167 (GRCm39) probably benign Het
Sema4g T A 19: 44,986,091 (GRCm39) S311T possibly damaging Het
Skida1 T C 2: 18,053,090 (GRCm39) I21V possibly damaging Het
Slc25a32 T A 15: 38,963,411 (GRCm39) I137F probably benign Het
Stard9 T C 2: 120,543,929 (GRCm39) V4409A probably damaging Het
Stx2 G A 5: 129,065,852 (GRCm39) probably benign Het
Timeless C T 10: 128,078,234 (GRCm39) T248M possibly damaging Het
Tlr2 T A 3: 83,743,900 (GRCm39) N728Y probably damaging Het
Zfp592 A T 7: 80,687,812 (GRCm39) N913Y possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- TTCTCACATGTTGTCCCGAACTCAAA -3'
(R):5'- ACAGTAATGAAGCAAAAGGCCCTAAACT -3'

Sequencing Primer
(F):5'- CAGAAATTAGAGGAGTTGTGACC -3'
(R):5'- actcagataaacacacataacagac -3'
Posted On 2014-02-11