Incidental Mutation 'IGL02396:Zfand6'
ID 294322
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfand6
Ensembl Gene ENSMUSG00000030629
Gene Name zinc finger, AN1-type domain 6
Synonyms 3110005P07Rik, Za20d3, Awp1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.250) question?
Stock # IGL02396
Quality Score
Status
Chromosome 7
Chromosomal Location 84264253-84339224 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 84267111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 157 (P157L)
Ref Sequence ENSEMBL: ENSMUSP00000147192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069537] [ENSMUST00000178385] [ENSMUST00000207865] [ENSMUST00000208782] [ENSMUST00000209117] [ENSMUST00000209165]
AlphaFold Q9DCH6
Predicted Effect possibly damaging
Transcript: ENSMUST00000069537
AA Change: P157L

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000069228
Gene: ENSMUSG00000030629
AA Change: P157L

DomainStartEndE-ValueType
ZnF_A20 11 35 1.91e-10 SMART
ZnF_AN1 164 201 1.46e-15 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000178385
AA Change: P157L

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000135968
Gene: ENSMUSG00000030629
AA Change: P157L

DomainStartEndE-ValueType
ZnF_A20 11 35 1.91e-10 SMART
ZnF_AN1 164 201 1.46e-15 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000207865
AA Change: P157L

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208519
Predicted Effect probably damaging
Transcript: ENSMUST00000208782
AA Change: P157L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000209117
AA Change: P157L

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209140
Predicted Effect probably damaging
Transcript: ENSMUST00000209165
AA Change: P157L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 C T 14: 54,882,256 (GRCm39) probably benign Het
Bhmt1b A G 18: 87,774,780 (GRCm39) E101G possibly damaging Het
Bmp3 C A 5: 99,020,578 (GRCm39) Q334K possibly damaging Het
Bnc2 G T 4: 84,194,246 (GRCm39) S1026R probably benign Het
Bsn C T 9: 107,993,245 (GRCm39) G836S possibly damaging Het
Cand2 A G 6: 115,768,149 (GRCm39) probably benign Het
Ccdc24 T C 4: 117,726,826 (GRCm39) T296A possibly damaging Het
Ccdc38 A G 10: 93,409,994 (GRCm39) N271S possibly damaging Het
Ccdc81 T G 7: 89,530,857 (GRCm39) I362L probably benign Het
Cdhr3 T A 12: 33,095,195 (GRCm39) I625F possibly damaging Het
Col12a1 T A 9: 79,569,865 (GRCm39) R1568S probably benign Het
Cpeb4 T A 11: 31,875,441 (GRCm39) S547T probably benign Het
Dennd4c T A 4: 86,743,237 (GRCm39) N1075K probably damaging Het
Esrra C A 19: 6,889,373 (GRCm39) V339L probably benign Het
Ghr A T 15: 3,487,480 (GRCm39) M1K probably null Het
Gm4987 T A X: 45,544,991 (GRCm39) noncoding transcript Het
Golga2 G T 2: 32,188,656 (GRCm39) probably benign Het
Gys1 T A 7: 45,089,012 (GRCm39) I137N probably damaging Het
Hs3st5 A T 10: 36,704,699 (GRCm39) M1L probably benign Het
Hsd3b5 T A 3: 98,529,343 (GRCm39) T96S probably benign Het
Ighv6-3 T C 12: 114,355,356 (GRCm39) D111G probably damaging Het
Immp1l T A 2: 105,767,351 (GRCm39) I70N probably damaging Het
Ints4 G A 7: 97,187,107 (GRCm39) V866I possibly damaging Het
Large2 G T 2: 92,196,668 (GRCm39) Y529* probably null Het
Maf1 C A 15: 76,237,457 (GRCm39) Y166* probably null Het
Manba T A 3: 135,250,525 (GRCm39) M384K probably damaging Het
Mapk4 C A 18: 74,067,068 (GRCm39) probably null Het
Mc5r T C 18: 68,472,537 (GRCm39) S299P possibly damaging Het
Mdn1 T A 4: 32,700,120 (GRCm39) N1404K probably damaging Het
Milr1 C A 11: 106,656,065 (GRCm39) Y212* probably null Het
Ncor2 A G 5: 125,114,978 (GRCm39) S1115P probably damaging Het
Or10ag57 A T 2: 87,218,049 (GRCm39) probably benign Het
Or4f61 C A 2: 111,922,812 (GRCm39) C78F probably benign Het
Osbpl7 T G 11: 96,946,377 (GRCm39) L158R probably damaging Het
Psmd4 A T 3: 94,943,221 (GRCm39) L61Q probably damaging Het
Rassf9 A T 10: 102,381,554 (GRCm39) N310I possibly damaging Het
Rpl21-ps6 A G 17: 56,222,400 (GRCm39) noncoding transcript Het
Slc31a2 T C 4: 62,215,310 (GRCm39) I119T probably damaging Het
Srgap2 C A 1: 131,220,413 (GRCm39) C187F probably damaging Het
Tekt5 C A 16: 10,196,931 (GRCm39) A307S probably benign Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Ttn A G 2: 76,775,432 (GRCm39) V1916A unknown Het
Wee1 T G 7: 109,741,300 (GRCm39) V641G probably damaging Het
Other mutations in Zfand6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03162:Zfand6 APN 7 84,283,185 (GRCm39) missense probably benign 0.01
R0780:Zfand6 UTSW 7 84,265,042 (GRCm39) missense probably damaging 1.00
R1055:Zfand6 UTSW 7 84,265,181 (GRCm39) splice site probably benign
R2427:Zfand6 UTSW 7 84,283,498 (GRCm39) nonsense probably null
R3683:Zfand6 UTSW 7 84,283,570 (GRCm39) missense probably damaging 1.00
R3685:Zfand6 UTSW 7 84,283,570 (GRCm39) missense probably damaging 1.00
R4663:Zfand6 UTSW 7 84,267,093 (GRCm39) missense probably benign 0.27
R4939:Zfand6 UTSW 7 84,265,030 (GRCm39) makesense probably null
R6013:Zfand6 UTSW 7 84,281,900 (GRCm39) missense probably benign 0.00
R6867:Zfand6 UTSW 7 84,265,122 (GRCm39) missense probably damaging 1.00
R7113:Zfand6 UTSW 7 84,265,077 (GRCm39) missense probably damaging 1.00
R7692:Zfand6 UTSW 7 84,283,141 (GRCm39) missense not run
R8140:Zfand6 UTSW 7 84,281,957 (GRCm39) missense possibly damaging 0.71
R8755:Zfand6 UTSW 7 84,281,899 (GRCm39) missense probably benign
R9185:Zfand6 UTSW 7 84,283,558 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16