Incidental Mutation 'IGL02059:Zfp148'
ID185343
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp148
Ensembl Gene ENSMUSG00000022811
Gene Namezinc finger protein 148
SynonymsZBP-89, BFCOL1, BERF-1, beta enolase repressor factor 1, 2210405J08Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02059
Quality Score
Status
Chromosome16
Chromosomal Location33380836-33504363 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 33496563 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 493 (V493D)
Ref Sequence ENSEMBL: ENSMUSP00000156030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089677] [ENSMUST00000165418] [ENSMUST00000232023]
Predicted Effect probably damaging
Transcript: ENSMUST00000089677
AA Change: V535D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000087106
Gene: ENSMUSG00000022811
AA Change: V535D

DomainStartEndE-ValueType
low complexity region 141 149 N/A INTRINSIC
ZnF_C2H2 171 193 4.4e-2 SMART
ZnF_C2H2 199 221 2.09e-3 SMART
ZnF_C2H2 227 249 2.24e-3 SMART
ZnF_C2H2 255 278 4.57e0 SMART
low complexity region 314 323 N/A INTRINSIC
low complexity region 328 344 N/A INTRINSIC
low complexity region 589 596 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000165418
AA Change: V535D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126338
Gene: ENSMUSG00000022811
AA Change: V535D

DomainStartEndE-ValueType
low complexity region 141 149 N/A INTRINSIC
ZnF_C2H2 171 193 4.4e-2 SMART
ZnF_C2H2 199 221 2.09e-3 SMART
ZnF_C2H2 227 249 2.24e-3 SMART
ZnF_C2H2 255 278 4.57e0 SMART
low complexity region 314 323 N/A INTRINSIC
low complexity region 328 344 N/A INTRINSIC
low complexity region 589 596 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000232023
AA Change: V493D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Kruppel family of zinc finger DNA binding proteins. The encoded protein activates transcription of the T-cell receptor and intestinal alkaline phosphatase genes but represses transcription of the ornithine decarboxylase, vimentin, gastrin, stomelysin, and enolase genes. Increased expression of this gene results in decreased patient survival rates from colorectal cancer, while mutations in this gene have been associated with global developmental delay, hypoplastic corpus callosum, and dysmorphic facies. [provided by RefSeq, Feb 2017]
PHENOTYPE: Disruption of one allele results in haploinsufficient male infertility in which chimeric males display a loss of germ cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A C 11: 110,160,394 probably benign Het
Anks1 A G 17: 28,008,046 M558V possibly damaging Het
Arhgef1 T A 7: 24,912,552 probably benign Het
Atad3a G A 4: 155,754,750 probably benign Het
Bhmt2 A G 13: 93,666,663 Y121H probably benign Het
Cbx5 A G 15: 103,199,765 V151A probably damaging Het
Copa T A 1: 172,099,753 I231N probably damaging Het
Csf3r T A 4: 126,032,127 C168* probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnah9 A T 11: 66,072,958 I1723N probably damaging Het
Epb42 G A 2: 121,024,707 P466S probably damaging Het
Fem1b C T 9: 62,796,164 V605I possibly damaging Het
Gclc T G 9: 77,787,816 S403A probably damaging Het
Gpr135 A T 12: 72,070,084 V303D possibly damaging Het
Gprin3 C A 6: 59,355,325 probably benign Het
Grik1 T A 16: 88,056,049 Q82L possibly damaging Het
Hacl1 T C 14: 31,632,934 N118D probably benign Het
Hdac9 A G 12: 34,431,968 V146A probably damaging Het
Hltf T C 3: 20,106,457 F763L probably benign Het
Impg2 C T 16: 56,259,972 S713L probably damaging Het
Ints7 T A 1: 191,615,760 M748K probably benign Het
Kalrn A G 16: 34,252,341 S724P possibly damaging Het
Kyat1 T C 2: 30,185,553 Q359R probably benign Het
Mtmr4 A G 11: 87,601,124 N206S possibly damaging Het
Nos3 T C 5: 24,368,998 I227T probably damaging Het
Olfr589 T C 7: 103,155,103 I215V probably benign Het
Pde1a A T 2: 79,897,077 H169Q possibly damaging Het
Ppp1r13b A T 12: 111,833,347 D665E probably damaging Het
Prickle4 G T 17: 47,690,249 L131M probably damaging Het
Prl6a1 T A 13: 27,315,365 Y39N probably benign Het
Slco6d1 T C 1: 98,446,806 V350A possibly damaging Het
Srsf7 T A 17: 80,202,692 S209C probably null Het
Syde2 C T 3: 146,002,172 A622V possibly damaging Het
Ugt1a6a T A 1: 88,138,681 S70T possibly damaging Het
Vmn2r39 T C 7: 9,023,644 I453V probably benign Het
Zc3h7a A G 16: 11,160,998 probably benign Het
Zeb1 G T 18: 5,766,892 V468F probably damaging Het
Other mutations in Zfp148
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Zfp148 APN 16 33456943 missense probably benign
IGL02389:Zfp148 APN 16 33495446 missense probably damaging 1.00
ANU22:Zfp148 UTSW 16 33456943 missense probably benign
R0680:Zfp148 UTSW 16 33495804 missense possibly damaging 0.74
R1455:Zfp148 UTSW 16 33495465 critical splice donor site probably null
R2175:Zfp148 UTSW 16 33496746 nonsense probably null
R2497:Zfp148 UTSW 16 33496385 missense probably damaging 1.00
R4229:Zfp148 UTSW 16 33434763 missense probably benign 0.00
R4470:Zfp148 UTSW 16 33496232 missense probably damaging 0.98
R4687:Zfp148 UTSW 16 33496819 missense probably damaging 1.00
R4693:Zfp148 UTSW 16 33468135 missense probably damaging 1.00
R4701:Zfp148 UTSW 16 33456908 missense probably benign 0.00
R5272:Zfp148 UTSW 16 33496224 missense probably damaging 0.99
R5479:Zfp148 UTSW 16 33497219 missense probably damaging 0.99
R5511:Zfp148 UTSW 16 33434634 start gained probably benign
R5679:Zfp148 UTSW 16 33495786 missense probably damaging 1.00
R5798:Zfp148 UTSW 16 33496143 missense probably benign 0.03
R6142:Zfp148 UTSW 16 33495459 missense possibly damaging 0.63
R6368:Zfp148 UTSW 16 33497198 missense probably damaging 0.99
R6866:Zfp148 UTSW 16 33468126 missense probably damaging 1.00
Posted On2014-05-07