Incidental Mutation 'R6866:Zfp148'
ID 535944
Institutional Source Beutler Lab
Gene Symbol Zfp148
Ensembl Gene ENSMUSG00000022811
Gene Name zinc finger protein 148
Synonyms 2210405J08Rik, ZBP-89, BFCOL1, BERF-1, beta enolase repressor factor 1
MMRRC Submission 044965-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6866 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 33201145-33324273 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 33288496 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 162 (C162S)
Ref Sequence ENSEMBL: ENSMUSP00000156030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089677] [ENSMUST00000165418] [ENSMUST00000232023]
AlphaFold Q61624
Predicted Effect probably damaging
Transcript: ENSMUST00000089677
AA Change: C204S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000087106
Gene: ENSMUSG00000022811
AA Change: C204S

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: C204S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126338
Gene: ENSMUSG00000022811
AA Change: C204S

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: C162S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 A G 6: 85,598,080 (GRCm39) T1438A possibly damaging Het
Als2 T A 1: 59,250,292 (GRCm39) Q484L probably damaging Het
Apeh G A 9: 107,969,878 (GRCm39) H186Y probably damaging Het
Bcl2l13 T A 6: 120,839,850 (GRCm39) N49K probably benign Het
Bptf T C 11: 106,964,406 (GRCm39) D1596G probably damaging Het
Brsk1 T C 7: 4,709,406 (GRCm39) M325T probably damaging Het
Caly T C 7: 139,650,532 (GRCm39) M137V probably benign Het
Cdca2 T C 14: 67,931,115 (GRCm39) E526G possibly damaging Het
Cnga4 A G 7: 105,056,952 (GRCm39) S352G possibly damaging Het
Cntnap5c A C 17: 58,399,289 (GRCm39) T381P probably benign Het
Cr2 T A 1: 194,833,999 (GRCm39) Y633F probably damaging Het
Cryba1 T C 11: 77,610,355 (GRCm39) N120S probably benign Het
Cyfip2 G A 11: 46,133,286 (GRCm39) R805* probably null Het
Dnah7c C A 1: 46,696,403 (GRCm39) P2095Q probably damaging Het
Eif3k T C 7: 28,676,651 (GRCm39) E110G possibly damaging Het
Extl2 T A 3: 115,821,002 (GRCm39) M283K probably damaging Het
Extl2 A G 3: 115,821,001 (GRCm39) M283V probably damaging Het
Focad T C 4: 88,321,623 (GRCm39) I1658T probably benign Het
Fstl5 A T 3: 76,229,532 (GRCm39) H111L probably damaging Het
Garnl3 A G 2: 32,892,785 (GRCm39) probably null Het
Gm3633 T A 14: 42,462,579 (GRCm39) probably benign Het
Il4i1 T A 7: 44,485,963 (GRCm39) probably null Het
Kcnj6 A T 16: 94,563,536 (GRCm39) C321S probably damaging Het
Kif20a A T 18: 34,761,546 (GRCm39) Y313F probably benign Het
Kmt2d T G 15: 98,755,274 (GRCm39) probably benign Het
Kynu T A 2: 43,453,122 (GRCm39) Y48* probably null Het
Ly9 T C 1: 171,432,847 (GRCm39) I55M probably damaging Het
Mgme1 T C 2: 144,118,439 (GRCm39) V237A probably damaging Het
Mmp16 T A 4: 17,853,800 (GRCm39) L27H probably benign Het
Mtres1 ACTGCACCACCT ACT 10: 43,408,721 (GRCm39) probably benign Het
Myh1 A C 11: 67,115,219 (GRCm39) D1918A probably damaging Het
Myo5a G A 9: 75,047,970 (GRCm39) C266Y probably damaging Het
Nckap5l A G 15: 99,324,349 (GRCm39) I718T probably benign Het
Nptx1 A G 11: 119,437,476 (GRCm39) probably null Het
Or56a42-ps1 T A 7: 104,775,825 (GRCm39) M228L probably benign Het
Or5k16 A G 16: 58,736,351 (GRCm39) Y218H probably damaging Het
Or5p76 A G 7: 108,122,377 (GRCm39) F260S probably damaging Het
Phc3 T A 3: 30,968,680 (GRCm39) K783* probably null Het
Pkdrej A T 15: 85,705,082 (GRCm39) C285S probably damaging Het
Pot1b T A 17: 55,960,474 (GRCm39) T619S possibly damaging Het
Pramel32 T A 4: 88,545,977 (GRCm39) D455V probably damaging Het
Psg21 A T 7: 18,386,209 (GRCm39) V259E probably damaging Het
Pvr A C 7: 19,652,555 (GRCm39) I120S probably benign Het
Rbm17 T G 2: 11,602,901 (GRCm39) I68L probably benign Het
Rnf138 C T 18: 21,135,199 (GRCm39) P28L probably damaging Het
Rnf207 C T 4: 152,396,989 (GRCm39) C385Y possibly damaging Het
Serping1 A C 2: 84,600,577 (GRCm39) V255G probably benign Het
Slc25a3 A T 10: 90,955,567 (GRCm39) V91E probably damaging Het
Slc26a8 T C 17: 28,857,455 (GRCm39) D896G probably benign Het
Slc27a5 T A 7: 12,731,443 (GRCm39) T183S probably benign Het
Slc33a1 A T 3: 63,850,744 (GRCm39) F527I probably benign Het
Sting1 T C 18: 35,872,482 (GRCm39) H50R probably damaging Het
Strn4 A T 7: 16,562,710 (GRCm39) D283V probably damaging Het
Sult1e1 G A 5: 87,734,625 (GRCm39) T107I probably damaging Het
Tango6 G A 8: 107,469,104 (GRCm39) probably null Het
Tecrl G T 5: 83,461,161 (GRCm39) P99T probably damaging Het
Ticrr T C 7: 79,343,705 (GRCm39) L1190P possibly damaging Het
Timm50 C T 7: 28,005,370 (GRCm39) R349H probably damaging Het
Tjp2 A G 19: 24,079,355 (GRCm39) I840T probably damaging Het
Tmem45a2 T A 16: 56,867,386 (GRCm39) N105I probably damaging Het
Tsbp1 T A 17: 34,678,935 (GRCm39) C216S possibly damaging Het
Zfp534 T C 4: 147,758,938 (GRCm39) K577R probably benign Het
Other mutations in Zfp148
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Zfp148 APN 16 33,277,313 (GRCm39) missense probably benign
IGL02059:Zfp148 APN 16 33,316,933 (GRCm39) missense probably damaging 1.00
IGL02389:Zfp148 APN 16 33,315,816 (GRCm39) missense probably damaging 1.00
ANU22:Zfp148 UTSW 16 33,277,313 (GRCm39) missense probably benign
R0680:Zfp148 UTSW 16 33,316,174 (GRCm39) missense possibly damaging 0.74
R1455:Zfp148 UTSW 16 33,315,835 (GRCm39) critical splice donor site probably null
R2175:Zfp148 UTSW 16 33,317,116 (GRCm39) nonsense probably null
R2497:Zfp148 UTSW 16 33,316,755 (GRCm39) missense probably damaging 1.00
R4229:Zfp148 UTSW 16 33,255,133 (GRCm39) missense probably benign 0.00
R4470:Zfp148 UTSW 16 33,316,602 (GRCm39) missense probably damaging 0.98
R4687:Zfp148 UTSW 16 33,317,189 (GRCm39) missense probably damaging 1.00
R4693:Zfp148 UTSW 16 33,288,505 (GRCm39) missense probably damaging 1.00
R4701:Zfp148 UTSW 16 33,277,278 (GRCm39) missense probably benign 0.00
R5272:Zfp148 UTSW 16 33,316,594 (GRCm39) missense probably damaging 0.99
R5479:Zfp148 UTSW 16 33,317,589 (GRCm39) missense probably damaging 0.99
R5511:Zfp148 UTSW 16 33,255,004 (GRCm39) start gained probably benign
R5679:Zfp148 UTSW 16 33,316,156 (GRCm39) missense probably damaging 1.00
R5798:Zfp148 UTSW 16 33,316,513 (GRCm39) missense probably benign 0.03
R6142:Zfp148 UTSW 16 33,315,829 (GRCm39) missense possibly damaging 0.63
R6368:Zfp148 UTSW 16 33,317,568 (GRCm39) missense probably damaging 0.99
R7347:Zfp148 UTSW 16 33,255,160 (GRCm39) missense possibly damaging 0.86
R7419:Zfp148 UTSW 16 33,317,511 (GRCm39) missense possibly damaging 0.87
R7709:Zfp148 UTSW 16 33,288,545 (GRCm39) missense probably damaging 0.99
R8771:Zfp148 UTSW 16 33,317,656 (GRCm39) missense possibly damaging 0.67
R9120:Zfp148 UTSW 16 33,317,596 (GRCm39) missense probably benign 0.00
R9528:Zfp148 UTSW 16 33,316,660 (GRCm39) missense probably benign 0.27
R9591:Zfp148 UTSW 16 33,315,737 (GRCm39) missense
Z1177:Zfp148 UTSW 16 33,317,169 (GRCm39) missense probably damaging 0.99
Z1177:Zfp148 UTSW 16 33,316,839 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- GTGAAACTTTAAATCCCGTGGG -3'
(R):5'- CATGAAGGATGCTACTGCTCC -3'

Sequencing Primer
(F):5'- CCCGTGGGAAATTTTTGAGGGAAAG -3'
(R):5'- AGGATGCTACTGCTCCTTATAAGTG -3'
Posted On 2018-10-18