Incidental Mutation 'R8318:Zfp626'
ID 641807
Institutional Source Beutler Lab
Gene Symbol Zfp626
Ensembl Gene ENSMUSG00000030604
Gene Name zinc finger protein 626
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R8318 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 27807196-27822916 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 27818245 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 217 (T217K)
Ref Sequence ENSEMBL: ENSMUSP00000146286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080175] [ENSMUST00000205671]
AlphaFold A0A0U1RQ84
Predicted Effect probably damaging
Transcript: ENSMUST00000080175
AA Change: T143K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000079068
Gene: ENSMUSG00000030604
AA Change: T143K

DomainStartEndE-ValueType
ZnF_C2H2 99 121 1.16e-1 SMART
ZnF_C2H2 127 149 8.98e0 SMART
ZnF_C2H2 155 177 5.42e-2 SMART
ZnF_C2H2 183 205 3.39e-3 SMART
ZnF_C2H2 211 233 3.69e-4 SMART
ZnF_C2H2 239 261 4.72e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000205671
AA Change: T217K

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank1 T C 8: 23,115,551 V1145A probably damaging Het
Ankrd35 G A 3: 96,684,722 V775M probably damaging Het
Ankrd63 C T 2: 118,703,240 V67M unknown Het
Arhgef5 T A 6: 43,275,999 probably null Het
Atp13a2 A T 4: 141,007,024 Q1152H probably benign Het
Carmil1 A G 13: 24,036,459 L1094P probably benign Het
Col7a1 G A 9: 108,958,374 A612T unknown Het
Csgalnact1 T C 8: 68,461,133 E140G probably damaging Het
Ddx18 G T 1: 121,566,087 A56D probably benign Het
Dixdc1 T C 9: 50,684,409 probably null Het
Dpys G A 15: 39,784,665 T498I probably benign Het
Ear6 A G 14: 51,854,265 I90V probably benign Het
Egr1 T C 18: 34,863,610 S482P probably damaging Het
Ehbp1 C T 11: 22,137,980 R393Q probably benign Het
Enpep A G 3: 129,270,337 I927T probably damaging Het
Ermard C T 17: 15,022,072 T406I possibly damaging Het
Etl4 T C 2: 20,788,530 S971P probably damaging Het
Fan1 C A 7: 64,350,055 V861F probably damaging Het
Fbp1 A G 13: 62,865,011 F328L probably benign Het
Fgd5 T A 6: 91,987,496 F237I probably benign Het
Fmn1 T C 2: 113,365,157 S401P unknown Het
Gabbr1 G A 17: 37,062,543 E444K probably benign Het
Htr3b C A 9: 48,964,877 probably benign Het
Ighv1-49 A G 12: 115,055,431 F48S probably damaging Het
Kcnh4 A G 11: 100,752,328 L371P probably damaging Het
Kcnk15 A G 2: 163,858,269 T143A probably damaging Het
Klk1b4 T G 7: 44,210,911 S150A possibly damaging Het
Krt6a A T 15: 101,694,247 M1K probably null Het
Lama2 G A 10: 26,984,338 S3051L probably damaging Het
Lgals4 T C 7: 28,834,515 M38T probably benign Het
Mdn1 T C 4: 32,735,897 probably null Het
Mindy1 A G 3: 95,292,625 S246G probably damaging Het
Myo18a A G 11: 77,823,389 T770A probably benign Het
Olfr1221 T A 2: 89,111,898 I205F probably benign Het
Olfr1254 C T 2: 89,788,977 C125Y possibly damaging Het
Olfr270 T C 4: 52,971,104 V161A probably benign Het
Pcdhb19 T A 18: 37,497,946 S265T possibly damaging Het
Pcna T C 2: 132,251,428 Y133C probably damaging Het
Polr2b A G 5: 77,335,729 E684G probably benign Het
Pon2 T C 6: 5,265,425 I321V probably benign Het
Prss54 T A 8: 95,564,466 M169L probably damaging Het
Rps3 T A 7: 99,483,731 probably benign Het
Senp1 T C 15: 98,064,867 D312G probably damaging Het
Serpina10 T A 12: 103,616,848 T446S possibly damaging Het
Slc2a5 A G 4: 150,139,658 D241G possibly damaging Het
Slc7a11 A G 3: 50,417,986 probably null Het
Tgfbrap1 G C 1: 43,056,669 C536W probably damaging Het
Trip11 C T 12: 101,912,804 G9S unknown Het
Other mutations in Zfp626
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0726:Zfp626 UTSW 7 27818623 missense probably damaging 1.00
R0973:Zfp626 UTSW 7 27818482 missense probably damaging 0.97
R0973:Zfp626 UTSW 7 27818482 missense probably damaging 0.97
R0974:Zfp626 UTSW 7 27818482 missense probably damaging 0.97
R3085:Zfp626 UTSW 7 27818162 missense probably benign 0.12
R5421:Zfp626 UTSW 7 27817910 missense probably damaging 0.97
R6213:Zfp626 UTSW 7 27808292 missense probably benign 0.00
R6950:Zfp626 UTSW 7 27818914 missense probably damaging 1.00
R7190:Zfp626 UTSW 7 27818343 missense probably benign
R7359:Zfp626 UTSW 7 27808235 missense probably damaging 1.00
R7547:Zfp626 UTSW 7 27818403 missense possibly damaging 0.86
R7783:Zfp626 UTSW 7 27818370 missense possibly damaging 0.83
R7889:Zfp626 UTSW 7 27819499 missense probably benign 0.03
R7982:Zfp626 UTSW 7 27810750 critical splice acceptor site probably null
R8011:Zfp626 UTSW 7 27818715 missense possibly damaging 0.85
R9698:Zfp626 UTSW 7 27819015 missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- TTGTCAGGAAGGAGATGCTG -3'
(R):5'- TGTGTGCAACAAGGTTGGAG -3'

Sequencing Primer
(F):5'- CTGGCCAGCAGGTTACTAAG -3'
(R):5'- GAGACACGGTTGAAGATCTTCCC -3'
Posted On 2020-07-28