Incidental Mutation 'B5639:Zfp667'
ID 551
Institutional Source Beutler Lab
Gene Symbol Zfp667
Ensembl Gene ENSMUSG00000054893
Gene Name zinc finger protein 667
Synonyms A830025F02Rik
Accession Numbers

Genbank: NM_001024928

Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock # B5639 of strain 3d
Quality Score
Status Validated
Chromosome 7
Chromosomal Location 6286579-6307883 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6290545 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 15 (T15A)
Ref Sequence ENSEMBL: ENSMUSP00000146573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086327] [ENSMUST00000108562] [ENSMUST00000153840] [ENSMUST00000170776]
AlphaFold Q2TL60
Predicted Effect possibly damaging
Transcript: ENSMUST00000086327
AA Change: T15A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000083507
Gene: ENSMUSG00000054893
AA Change: T15A

DomainStartEndE-ValueType
KRAB 14 74 4.77e-30 SMART
ZnF_C2H2 144 166 5.42e-2 SMART
ZnF_C2H2 172 194 3.11e-2 SMART
ZnF_C2H2 200 222 1.67e-2 SMART
ZnF_C2H2 253 275 2.57e-3 SMART
ZnF_C2H2 329 351 2.4e-3 SMART
ZnF_C2H2 357 379 3.16e-3 SMART
ZnF_C2H2 385 407 8.94e-3 SMART
ZnF_C2H2 414 436 5.06e-2 SMART
ZnF_C2H2 442 464 2.4e-3 SMART
ZnF_C2H2 470 492 5.29e-5 SMART
ZnF_C2H2 498 520 7.37e-4 SMART
ZnF_C2H2 526 548 1.38e-3 SMART
ZnF_C2H2 554 576 1.13e-4 SMART
ZnF_C2H2 582 604 1.38e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108562
AA Change: T15A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104202
Gene: ENSMUSG00000054893
AA Change: T15A

DomainStartEndE-ValueType
KRAB 14 74 4.77e-30 SMART
ZnF_C2H2 144 166 5.42e-2 SMART
ZnF_C2H2 172 194 3.11e-2 SMART
ZnF_C2H2 200 222 1.67e-2 SMART
ZnF_C2H2 253 275 2.57e-3 SMART
ZnF_C2H2 329 351 2.4e-3 SMART
ZnF_C2H2 357 379 3.16e-3 SMART
ZnF_C2H2 385 407 8.94e-3 SMART
ZnF_C2H2 414 436 5.06e-2 SMART
ZnF_C2H2 442 464 2.4e-3 SMART
ZnF_C2H2 470 492 5.29e-5 SMART
ZnF_C2H2 498 520 7.37e-4 SMART
ZnF_C2H2 526 548 1.38e-3 SMART
ZnF_C2H2 554 576 1.13e-4 SMART
ZnF_C2H2 582 604 1.38e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147784
Predicted Effect probably damaging
Transcript: ENSMUST00000153840
AA Change: T15A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000170776
AA Change: T15A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000128658
Gene: ENSMUSG00000054893
AA Change: T15A

DomainStartEndE-ValueType
KRAB 14 74 4.77e-30 SMART
ZnF_C2H2 144 166 5.42e-2 SMART
ZnF_C2H2 172 194 3.11e-2 SMART
ZnF_C2H2 200 222 1.67e-2 SMART
ZnF_C2H2 253 275 2.57e-3 SMART
ZnF_C2H2 329 351 2.4e-3 SMART
ZnF_C2H2 357 379 3.16e-3 SMART
ZnF_C2H2 385 407 8.94e-3 SMART
ZnF_C2H2 414 436 5.06e-2 SMART
ZnF_C2H2 442 464 2.4e-3 SMART
ZnF_C2H2 470 492 5.29e-5 SMART
ZnF_C2H2 498 520 7.37e-4 SMART
ZnF_C2H2 526 548 1.38e-3 SMART
ZnF_C2H2 554 576 1.13e-4 SMART
ZnF_C2H2 582 604 1.38e-3 SMART
Meta Mutation Damage Score 0.4318 question?
Coding Region Coverage
  • 1x: 89.7%
  • 3x: 78.3%
Het Detection Efficiency 55.9%
Validation Efficiency 83% (206/248)
Allele List at MGI

All alleles(4) : Targeted, other(2) Gene trapped(2)

Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Dnmt1 G A 9: 20,907,968 probably benign Het
Eno1 A G 4: 150,245,112 probably benign Het
Ercc8 G A 13: 108,160,723 G56R probably damaging Homo
Gm8773 C T 5: 5,574,060 probably benign Homo
Idh1 A G 1: 65,165,098 probably null Homo
Incenp G A 19: 9,893,818 T149I unknown Het
Olfr1155 G A 2: 87,943,598 S10F probably benign Het
Olfr181 A T 16: 58,926,526 I15K probably benign Homo
Pdk2 T C 11: 95,032,498 D100G possibly damaging Homo
Prss56 T C 1: 87,187,170 L465P probably benign Homo
Slc10a3 G A X: 74,369,539 P416L probably damaging Homo
Syne2 C A 12: 75,929,790 T1243K probably benign Het
Vwf T C 6: 125,642,984 Y1542H probably damaging Homo
Zc3h13 G A 14: 75,316,039 R302Q probably damaging Het
Zfhx4 G T 3: 5,403,175 G2798W probably damaging Homo
Other mutations in Zfp667
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00821:Zfp667 APN 7 6305397 missense possibly damaging 0.53
IGL01325:Zfp667 APN 7 6290546 missense probably damaging 1.00
IGL01386:Zfp667 APN 7 6304870 missense probably benign 0.00
IGL01960:Zfp667 APN 7 6305337 missense probably benign 0.00
IGL03394:Zfp667 APN 7 6289439 critical splice donor site probably null
R0458:Zfp667 UTSW 7 6304845 missense probably benign 0.40
R0845:Zfp667 UTSW 7 6306092 missense possibly damaging 0.85
R1768:Zfp667 UTSW 7 6305067 missense possibly damaging 0.53
R1953:Zfp667 UTSW 7 6305088 missense probably benign 0.04
R2023:Zfp667 UTSW 7 6305417 missense possibly damaging 0.85
R3159:Zfp667 UTSW 7 6306000 missense probably damaging 1.00
R4080:Zfp667 UTSW 7 6305106 missense possibly damaging 0.71
R4476:Zfp667 UTSW 7 6304599 missense possibly damaging 0.53
R4584:Zfp667 UTSW 7 6290625 missense possibly damaging 0.84
R4783:Zfp667 UTSW 7 6305685 missense possibly damaging 0.83
R5037:Zfp667 UTSW 7 6305950 missense possibly damaging 0.71
R5300:Zfp667 UTSW 7 6304636 missense probably benign
R5311:Zfp667 UTSW 7 6305716 missense probably benign 0.10
R5312:Zfp667 UTSW 7 6305467 missense probably benign
R5340:Zfp667 UTSW 7 6305253 missense possibly damaging 0.53
R6262:Zfp667 UTSW 7 6304974 missense probably benign 0.03
R7386:Zfp667 UTSW 7 6305950 missense possibly damaging 0.86
R8383:Zfp667 UTSW 7 6305371 missense probably damaging 0.98
R8919:Zfp667 UTSW 7 6305257 missense possibly damaging 0.53
R9099:Zfp667 UTSW 7 6305323 missense probably benign 0.00
R9422:Zfp667 UTSW 7 6305322 missense probably benign 0.00
Z1177:Zfp667 UTSW 7 6304857 missense possibly damaging 0.91
Nature of Mutation

DNA sequencing using the SOLiD technique identified an A to G transition at position 165 of the Zfp667 transcript, in exon 3 of 5 total exons (NM_001024928).  Multiple transcripts are annotated in the Vega and Ensembl databases.  The mutation causes a threonine to alanine change at amino acid 15 of the encoded protein (NP_001020099).  The mutation has been confirmed by DNA sequencing using the Sanger method (see trace files for B5639).

Protein Function and Prediction

The 609 amino acid Zfp667 protein is a member of the Kruppel C2H2 zinc finger protein family.  It contains fourteen C2H2-type zinc fingers and one Kruppel-associated box (KRAB) domain.  Zfp667 was first cloned from rat heart after a transient myocardial ischemia/reperfusion procedure.  It is localized to the nucleus, and has been shown to act as a transcriptional repressor by binding to the consensus sequence 5'-TGTCTTATCGAA-3'.

 

The mutation is predicted to be probably damaging by the PolyPhen-2 program.

References
Posted On 2010-11-24