Incidental Mutation 'R0575:Atf7ip2'
ID 56201
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 038765-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R0575 (G1)
Quality Score 207
Status Validated
Chromosome 16
Chromosomal Location 10010513-10068595 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 10055075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 281 (G281C)
Ref Sequence ENSEMBL: ENSMUSP00000113480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044005] [ENSMUST00000117220] [ENSMUST00000119023] [ENSMUST00000230872]
AlphaFold Q3UL97
Predicted Effect probably damaging
Transcript: ENSMUST00000044005
AA Change: G281C

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036731
Gene: ENSMUSG00000039200
AA Change: G281C

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 damaging
Transcript: ENSMUST00000117220
AA Change: G281C

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113573
Gene: ENSMUSG00000039200
AA Change: G281C

DomainStartEndE-ValueType
low complexity region 180 192 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119023
AA Change: G281C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113480
Gene: ENSMUSG00000039200
AA Change: G281C

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 damaging
Transcript: ENSMUST00000230872
AA Change: G64C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.1135 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 100% (30/30)
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik C T 14: 54,828,709 (GRCm39) S264N possibly damaging Het
Acsm1 G A 7: 119,258,424 (GRCm39) probably null Het
Adsl C T 15: 80,847,886 (GRCm39) A93V probably damaging Het
Agbl5 A T 5: 31,051,798 (GRCm39) S539C probably damaging Het
Aggf1 T A 13: 95,504,905 (GRCm39) T285S probably benign Het
Anapc11 A G 11: 120,490,192 (GRCm39) D36G probably benign Het
Ankrd44 G A 1: 54,801,469 (GRCm39) A286V probably damaging Het
Birc6 A G 17: 74,996,232 (GRCm39) K4475E probably damaging Het
Ccbe1 T A 18: 66,227,066 (GRCm39) probably benign Het
Cyp26b1 A G 6: 84,552,288 (GRCm39) probably benign Het
Dcun1d1 T C 3: 35,951,934 (GRCm39) probably benign Het
Dtwd2 C A 18: 49,831,539 (GRCm39) C156F probably damaging Het
Efcab6 T G 15: 83,851,901 (GRCm39) I326L probably benign Het
Extl1 TGCGTTGCACCGATACCGGG TG 4: 134,084,988 (GRCm39) probably benign Het
F5 C A 1: 164,003,813 (GRCm39) Q203K probably damaging Het
Frs3 A G 17: 48,014,648 (GRCm39) H447R possibly damaging Het
Gmds T G 13: 32,124,566 (GRCm39) Q264P probably damaging Het
Golgb1 T A 16: 36,739,171 (GRCm39) D2503E probably benign Het
Lgi4 G A 7: 30,759,518 (GRCm39) G25R probably benign Het
Or2y1b G A 11: 49,208,880 (GRCm39) C169Y probably damaging Het
Or5b107 T A 19: 13,142,751 (GRCm39) Y124* probably null Het
Pcdh20 A G 14: 88,705,048 (GRCm39) S751P probably damaging Het
Pcnx4 A G 12: 72,614,010 (GRCm39) T652A probably benign Het
Pom121l2 T G 13: 22,168,338 (GRCm39) F870V probably damaging Het
Prob1 T C 18: 35,787,774 (GRCm39) D160G possibly damaging Het
Spa17 T C 9: 37,514,689 (GRCm39) K133E probably damaging Het
Strbp T A 2: 37,530,885 (GRCm39) D123V possibly damaging Het
Tnxb A G 17: 34,936,180 (GRCm39) T3586A possibly damaging Het
Zfp518a T A 19: 40,900,759 (GRCm39) H229Q 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
IGL02301:Atf7ip2 APN 16 10,028,911 (GRCm39) missense probably benign 0.32
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
Predicted Primers PCR Primer
(F):5'- CAAGGCCAAGGTTCGGTTTTAGCAC -3'
(R):5'- TGGGCATATCCTCTCTGGCACTATTG -3'

Sequencing Primer
(F):5'- CCTTTTCAGCCCGTAGAGAA -3'
(R):5'- gtgaataacctgccaaagaacc -3'
Posted On 2013-07-11