Incidental Mutation 'R5490:Zfp184'
ID 432055
Institutional Source Beutler Lab
Gene Symbol Zfp184
Ensembl Gene ENSMUSG00000006720
Gene Name zinc finger protein 184 (Kruppel-like)
Synonyms 4930500C15Rik
MMRRC Submission 043051-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R5490 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 22129264-22144949 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 22142747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 151 (V151D)
Ref Sequence ENSEMBL: ENSMUSP00000135173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006903] [ENSMUST00000102978] [ENSMUST00000176511] [ENSMUST00000176580]
AlphaFold Q7TSH9
Predicted Effect probably benign
Transcript: ENSMUST00000006903
AA Change: V151D

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000006903
Gene: ENSMUSG00000006720
AA Change: V151D

DomainStartEndE-ValueType
KRAB 28 88 1.14e-36 SMART
ZnF_C2H2 201 223 5.42e-2 SMART
ZnF_C2H2 229 251 1.22e-4 SMART
ZnF_C2H2 257 279 2.09e-3 SMART
ZnF_C2H2 285 307 5.29e-5 SMART
ZnF_C2H2 313 335 8.6e-5 SMART
ZnF_C2H2 341 363 1.28e-3 SMART
ZnF_C2H2 369 391 1.12e-3 SMART
ZnF_C2H2 397 419 1.84e-4 SMART
ZnF_C2H2 425 447 2.4e-3 SMART
ZnF_C2H2 453 475 4.79e-3 SMART
ZnF_C2H2 481 503 3.69e-4 SMART
ZnF_C2H2 509 531 7.37e-4 SMART
ZnF_C2H2 537 559 6.88e-4 SMART
ZnF_C2H2 565 587 2.43e-4 SMART
ZnF_C2H2 593 615 2.75e-3 SMART
ZnF_C2H2 621 643 5.99e-4 SMART
ZnF_C2H2 649 671 8.94e-3 SMART
ZnF_C2H2 679 698 4.27e1 SMART
ZnF_C2H2 704 726 1.23e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102978
AA Change: V151D

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000100043
Gene: ENSMUSG00000006720
AA Change: V151D

DomainStartEndE-ValueType
KRAB 28 88 1.14e-36 SMART
ZnF_C2H2 201 223 5.42e-2 SMART
ZnF_C2H2 229 251 1.22e-4 SMART
ZnF_C2H2 257 279 2.09e-3 SMART
ZnF_C2H2 285 307 5.29e-5 SMART
ZnF_C2H2 313 335 8.6e-5 SMART
ZnF_C2H2 341 363 1.28e-3 SMART
ZnF_C2H2 369 391 1.12e-3 SMART
ZnF_C2H2 397 419 1.84e-4 SMART
ZnF_C2H2 425 447 2.4e-3 SMART
ZnF_C2H2 453 475 4.79e-3 SMART
ZnF_C2H2 481 503 3.69e-4 SMART
ZnF_C2H2 509 531 7.37e-4 SMART
ZnF_C2H2 537 559 6.88e-4 SMART
ZnF_C2H2 565 587 2.43e-4 SMART
ZnF_C2H2 593 615 2.75e-3 SMART
ZnF_C2H2 621 643 5.99e-4 SMART
ZnF_C2H2 649 671 8.94e-3 SMART
ZnF_C2H2 679 698 4.27e1 SMART
ZnF_C2H2 704 726 1.23e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119018
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141391
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176003
Predicted Effect probably benign
Transcript: ENSMUST00000176511
AA Change: V151D

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000135173
Gene: ENSMUSG00000006720
AA Change: V151D

DomainStartEndE-ValueType
KRAB 28 88 1.14e-36 SMART
ZnF_C2H2 201 223 5.42e-2 SMART
ZnF_C2H2 229 251 1.22e-4 SMART
ZnF_C2H2 257 279 2.09e-3 SMART
ZnF_C2H2 285 307 5.29e-5 SMART
ZnF_C2H2 313 335 8.6e-5 SMART
ZnF_C2H2 341 363 1.28e-3 SMART
ZnF_C2H2 369 391 1.12e-3 SMART
ZnF_C2H2 397 419 1.84e-4 SMART
ZnF_C2H2 425 447 2.4e-3 SMART
ZnF_C2H2 453 475 4.79e-3 SMART
ZnF_C2H2 481 503 3.69e-4 SMART
ZnF_C2H2 509 531 7.37e-4 SMART
ZnF_C2H2 537 559 6.88e-4 SMART
ZnF_C2H2 565 587 2.43e-4 SMART
ZnF_C2H2 593 615 2.75e-3 SMART
ZnF_C2H2 621 643 5.99e-4 SMART
ZnF_C2H2 649 671 8.94e-3 SMART
ZnF_C2H2 679 698 4.27e1 SMART
ZnF_C2H2 704 726 1.23e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176580
SMART Domains Protein: ENSMUSP00000135404
Gene: ENSMUSG00000006720

DomainStartEndE-ValueType
KRAB 28 84 1.96e-17 SMART
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.8%
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 predicted to be a Kruppel C2H2-type zinc-finger protein family member. Sequence analysis predicts that the protein contains two Kruppel associated box (KRAB) boxes in the N-terminus and highly conserved zinc finger motifs at the C-terminus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf C T 11: 84,401,099 (GRCm39) G174D probably damaging Het
Abcc1 G T 16: 14,228,781 (GRCm39) G343C probably damaging Het
Asic2 T C 11: 80,780,646 (GRCm39) N370S probably benign Het
Btnl9 T C 11: 49,060,395 (GRCm39) E451G probably damaging Het
Cblb A G 16: 51,994,733 (GRCm39) H658R possibly damaging Het
Cdca2 T C 14: 67,917,733 (GRCm39) E555G possibly damaging Het
Chfr A G 5: 110,300,995 (GRCm39) S299G possibly damaging Het
Eea1 A G 10: 95,861,916 (GRCm39) E741G probably benign Het
Gapvd1 T C 2: 34,583,445 (GRCm39) D1057G probably benign Het
Glyat C T 19: 12,627,645 (GRCm39) T80M probably benign Het
Gpr87 T C 3: 59,086,747 (GRCm39) S253G probably damaging Het
Hapstr1 T A 16: 8,673,721 (GRCm39) V216E probably damaging Het
Hmgxb3 A G 18: 61,296,049 (GRCm39) S320P probably damaging Het
Kcnq5 C T 1: 21,549,692 (GRCm39) G345D probably damaging Het
Kif5c T C 2: 49,648,870 (GRCm39) V938A probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Madd G T 2: 91,000,980 (GRCm39) T467K possibly damaging Het
Mamdc4 T C 2: 25,455,890 (GRCm39) D706G probably damaging Het
Map2 A G 1: 66,452,292 (GRCm39) H476R probably damaging Het
Mgat4f A G 1: 134,317,666 (GRCm39) D146G probably damaging Het
Mpeg1 T C 19: 12,439,057 (GRCm39) S172P probably damaging Het
Nkx2-3 A T 19: 43,601,093 (GRCm39) T52S probably benign Het
Nup210 C T 6: 91,062,970 (GRCm39) V230I probably damaging Het
Or1j19 T A 2: 36,677,193 (GRCm39) Y219N probably damaging Het
Or51f2 T C 7: 102,527,100 (GRCm39) S258P probably damaging Het
Or5g9 G T 2: 85,552,666 (GRCm39) A306S probably benign Het
Pepd A G 7: 34,642,115 (GRCm39) probably null Het
Ppp1r36 T A 12: 76,484,760 (GRCm39) W238R probably damaging Het
Ppp1r36 G T 12: 76,484,761 (GRCm39) W238L possibly damaging Het
Prpf6 T G 2: 181,249,958 (GRCm39) D39E probably benign Het
Rassf5 T A 1: 131,108,932 (GRCm39) Q163L possibly damaging Het
Rbm43 T A 2: 51,815,607 (GRCm39) T205S probably benign Het
Relch T A 1: 105,647,226 (GRCm39) V672D probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sds C A 5: 120,621,715 (GRCm39) Q286K possibly damaging Het
Slc35a3 A T 3: 116,474,839 (GRCm39) C184* probably null Het
Smg1 G A 7: 117,738,659 (GRCm39) T3530I possibly damaging Het
Sspo T C 6: 48,470,214 (GRCm39) V591A probably benign Het
Stam2 T C 2: 52,610,929 (GRCm39) D31G probably damaging Het
Star A G 8: 26,299,945 (GRCm39) K96E probably damaging Het
Syne3 A G 12: 104,921,931 (GRCm39) L495P probably damaging Het
Tceanc2 A T 4: 107,022,846 (GRCm39) M47K probably benign Het
Tecpr2 T C 12: 110,881,118 (GRCm39) L85P probably damaging Het
Tmem241 C T 18: 12,176,320 (GRCm39) R116K probably benign Het
Yipf2 G A 9: 21,503,487 (GRCm39) A20V probably benign Het
Zc3h4 T A 7: 16,162,930 (GRCm39) D443E unknown Het
Zhx1 T C 15: 57,916,695 (GRCm39) Y517C probably damaging Het
Other mutations in Zfp184
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01674:Zfp184 APN 13 22,134,395 (GRCm39) splice site probably benign
R0393:Zfp184 UTSW 13 22,131,252 (GRCm39) splice site probably benign
R0636:Zfp184 UTSW 13 22,133,919 (GRCm39) missense probably damaging 1.00
R1657:Zfp184 UTSW 13 22,143,443 (GRCm39) missense probably damaging 1.00
R1718:Zfp184 UTSW 13 22,143,442 (GRCm39) missense possibly damaging 0.76
R4237:Zfp184 UTSW 13 22,142,948 (GRCm39) missense probably damaging 1.00
R4326:Zfp184 UTSW 13 22,144,072 (GRCm39) missense probably damaging 1.00
R4327:Zfp184 UTSW 13 22,144,072 (GRCm39) missense probably damaging 1.00
R4328:Zfp184 UTSW 13 22,144,072 (GRCm39) missense probably damaging 1.00
R4877:Zfp184 UTSW 13 22,144,498 (GRCm39) missense possibly damaging 0.92
R4941:Zfp184 UTSW 13 22,133,891 (GRCm39) missense probably damaging 1.00
R5014:Zfp184 UTSW 13 22,142,594 (GRCm39) missense probably benign 0.37
R5054:Zfp184 UTSW 13 22,143,452 (GRCm39) missense possibly damaging 0.74
R5105:Zfp184 UTSW 13 22,143,799 (GRCm39) missense possibly damaging 0.58
R5216:Zfp184 UTSW 13 22,134,406 (GRCm39) missense probably damaging 1.00
R5379:Zfp184 UTSW 13 22,144,051 (GRCm39) missense probably damaging 1.00
R5387:Zfp184 UTSW 13 22,133,810 (GRCm39) intron probably benign
R6220:Zfp184 UTSW 13 22,144,377 (GRCm39) missense probably damaging 1.00
R6752:Zfp184 UTSW 13 22,143,578 (GRCm39) missense probably damaging 0.99
R7088:Zfp184 UTSW 13 22,144,162 (GRCm39) missense probably damaging 1.00
R7653:Zfp184 UTSW 13 22,143,887 (GRCm39) missense probably damaging 1.00
R7980:Zfp184 UTSW 13 22,144,376 (GRCm39) missense probably damaging 1.00
R8056:Zfp184 UTSW 13 22,143,008 (GRCm39) missense probably damaging 1.00
R8214:Zfp184 UTSW 13 22,142,995 (GRCm39) missense probably damaging 1.00
R8235:Zfp184 UTSW 13 22,144,053 (GRCm39) missense probably damaging 1.00
R8748:Zfp184 UTSW 13 22,144,217 (GRCm39) missense probably benign 0.00
R8891:Zfp184 UTSW 13 22,143,512 (GRCm39) missense probably damaging 1.00
R9024:Zfp184 UTSW 13 22,143,128 (GRCm39) missense probably damaging 1.00
R9082:Zfp184 UTSW 13 22,143,636 (GRCm39) missense probably damaging 1.00
R9344:Zfp184 UTSW 13 22,144,411 (GRCm39) missense probably damaging 1.00
R9436:Zfp184 UTSW 13 22,133,898 (GRCm39) missense probably benign 0.03
R9568:Zfp184 UTSW 13 22,142,897 (GRCm39) missense probably benign 0.25
R9664:Zfp184 UTSW 13 22,144,096 (GRCm39) missense probably benign
R9709:Zfp184 UTSW 13 22,143,665 (GRCm39) missense possibly damaging 0.67
X0057:Zfp184 UTSW 13 22,143,718 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATAGATAATCTCCAACAAGGGCAG -3'
(R):5'- AAAGCTTTACCACATTCGTTGC -3'

Sequencing Primer
(F):5'- ATCTCCAACAAGGGCAGTTTTC -3'
(R):5'- ACATTCGTTGCACTTACACAG -3'
Posted On 2016-10-05