Incidental Mutation 'R1182:Atf7ip2'
ID 101660
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 039254-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R1182 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 10010513-10068595 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10059699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 413 (L413S)
Ref Sequence ENSEMBL: ENSMUSP00000036731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044005] [ENSMUST00000117220] [ENSMUST00000119023] [ENSMUST00000230872]
AlphaFold Q3UL97
Predicted Effect possibly damaging
Transcript: ENSMUST00000044005
AA Change: L413S

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036731
Gene: ENSMUSG00000039200
AA Change: L413S

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
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 93.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 T A 8: 84,656,451 (GRCm39) D256E probably damaging Het
Adnp G A 2: 168,026,716 (GRCm39) A193V possibly damaging Het
Clip1 T C 5: 123,785,928 (GRCm39) N252S probably damaging Het
Cubn A T 2: 13,449,811 (GRCm39) N904K probably damaging Het
Draxin T C 4: 148,192,394 (GRCm39) E306G probably damaging Het
Gabrr1 T A 4: 33,132,680 (GRCm39) F9L probably benign Het
Hyal6 T A 6: 24,743,416 (GRCm39) C371S probably damaging Het
Jag1 T A 2: 136,933,409 (GRCm39) I506F probably benign Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Or52e8b T C 7: 104,673,285 (GRCm39) T301A probably damaging Het
Or8k20 T C 2: 86,106,612 (GRCm39) N73S probably damaging Het
Plekhg6 C G 6: 125,349,455 (GRCm39) E381Q probably damaging Het
Prag1 A G 8: 36,614,413 (GRCm39) I1322V possibly damaging Het
Psmc3 T C 2: 90,886,380 (GRCm39) I179T probably damaging Het
Rasgrp3 A G 17: 75,810,185 (GRCm39) D295G probably benign Het
Sh3tc2 T C 18: 62,101,171 (GRCm39) V88A probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Vmn1r232 C A 17: 21,133,705 (GRCm39) L298F possibly damaging Het
Zfp629 C A 7: 127,209,274 (GRCm39) C845F 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
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
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'- CCCCAAAAGCCTGAGCTGAAAGTG -3'
(R):5'- TGCAACATGGGATAGTACAAGGCAC -3'

Sequencing Primer
(F):5'- GCCTGAGCTGAAAGTGAAGTG -3'
(R):5'- TAGTACAAGGCACAGTGTTAGAG -3'
Posted On 2014-01-15