Incidental Mutation 'R4485:Zfp219'
ID 331587
Institutional Source Beutler Lab
Gene Symbol Zfp219
Ensembl Gene ENSMUSG00000049295
Gene Name zinc finger protein 219
Synonyms 2010302A17Rik
MMRRC Submission 041741-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4485 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 52243534-52258190 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52244841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 518 (V518A)
Ref Sequence ENSEMBL: ENSMUSP00000154709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067549] [ENSMUST00000093813] [ENSMUST00000100639] [ENSMUST00000166169] [ENSMUST00000182061] [ENSMUST00000183208] [ENSMUST00000182905] [ENSMUST00000182909] [ENSMUST00000182760] [ENSMUST00000228580] [ENSMUST00000226522] [ENSMUST00000228747] [ENSMUST00000226605] [ENSMUST00000228162] [ENSMUST00000226527] [ENSMUST00000228051] [ENSMUST00000226554] [ENSMUST00000226964]
AlphaFold Q6IQX8
Predicted Effect probably damaging
Transcript: ENSMUST00000067549
AA Change: V518A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000068184
Gene: ENSMUSG00000049295
AA Change: V518A

DomainStartEndE-ValueType
low complexity region 30 47 N/A INTRINSIC
ZnF_C2H2 61 83 6.23e-2 SMART
ZnF_C2H2 89 111 4.17e-3 SMART
low complexity region 113 146 N/A INTRINSIC
ZnF_C2H2 167 190 3.07e-1 SMART
ZnF_C2H2 193 216 1.51e0 SMART
low complexity region 229 276 N/A INTRINSIC
ZnF_C2H2 277 299 8.47e-4 SMART
ZnF_C2H2 305 327 1.38e-3 SMART
low complexity region 331 350 N/A INTRINSIC
low complexity region 354 379 N/A INTRINSIC
low complexity region 427 441 N/A INTRINSIC
ZnF_C2H2 501 523 3.63e-3 SMART
ZnF_C2H2 529 551 1.58e-3 SMART
low complexity region 560 570 N/A INTRINSIC
low complexity region 594 611 N/A INTRINSIC
low complexity region 637 648 N/A INTRINSIC
ZnF_C2H2 650 672 2.82e0 SMART
low complexity region 675 684 N/A INTRINSIC
low complexity region 695 714 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093813
SMART Domains Protein: ENSMUSP00000091331
Gene: ENSMUSG00000004562

DomainStartEndE-ValueType
low complexity region 201 223 N/A INTRINSIC
low complexity region 306 320 N/A INTRINSIC
low complexity region 332 345 N/A INTRINSIC
low complexity region 351 395 N/A INTRINSIC
low complexity region 451 472 N/A INTRINSIC
low complexity region 550 564 N/A INTRINSIC
low complexity region 581 606 N/A INTRINSIC
low complexity region 773 792 N/A INTRINSIC
low complexity region 885 914 N/A INTRINSIC
low complexity region 958 996 N/A INTRINSIC
Pfam:RhoGEF 1087 1246 6.1e-9 PFAM
PH 1264 1372 3.97e-8 SMART
low complexity region 1403 1424 N/A INTRINSIC
low complexity region 1478 1491 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100639
SMART Domains Protein: ENSMUSP00000098204
Gene: ENSMUSG00000004562

DomainStartEndE-ValueType
low complexity region 201 223 N/A INTRINSIC
low complexity region 306 320 N/A INTRINSIC
low complexity region 332 345 N/A INTRINSIC
low complexity region 351 395 N/A INTRINSIC
low complexity region 451 472 N/A INTRINSIC
low complexity region 550 564 N/A INTRINSIC
low complexity region 581 606 N/A INTRINSIC
low complexity region 773 792 N/A INTRINSIC
low complexity region 885 914 N/A INTRINSIC
low complexity region 958 996 N/A INTRINSIC
Pfam:RhoGEF 1087 1246 5.9e-9 PFAM
PH 1264 1372 3.97e-8 SMART
low complexity region 1430 1443 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166169
AA Change: V518A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126854
Gene: ENSMUSG00000049295
AA Change: V518A

DomainStartEndE-ValueType
low complexity region 30 47 N/A INTRINSIC
ZnF_C2H2 61 83 6.23e-2 SMART
ZnF_C2H2 89 111 4.17e-3 SMART
low complexity region 113 146 N/A INTRINSIC
ZnF_C2H2 167 190 3.07e-1 SMART
ZnF_C2H2 193 216 1.51e0 SMART
low complexity region 229 276 N/A INTRINSIC
ZnF_C2H2 277 299 8.47e-4 SMART
ZnF_C2H2 305 327 1.38e-3 SMART
low complexity region 331 350 N/A INTRINSIC
low complexity region 354 379 N/A INTRINSIC
low complexity region 427 441 N/A INTRINSIC
ZnF_C2H2 501 523 3.63e-3 SMART
ZnF_C2H2 529 551 1.58e-3 SMART
low complexity region 560 570 N/A INTRINSIC
low complexity region 594 611 N/A INTRINSIC
low complexity region 637 648 N/A INTRINSIC
ZnF_C2H2 650 672 2.82e0 SMART
low complexity region 675 684 N/A INTRINSIC
low complexity region 695 714 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182061
SMART Domains Protein: ENSMUSP00000138128
Gene: ENSMUSG00000004562

DomainStartEndE-ValueType
low complexity region 201 223 N/A INTRINSIC
low complexity region 306 320 N/A INTRINSIC
low complexity region 332 345 N/A INTRINSIC
low complexity region 351 395 N/A INTRINSIC
low complexity region 451 472 N/A INTRINSIC
low complexity region 550 564 N/A INTRINSIC
low complexity region 581 606 N/A INTRINSIC
low complexity region 773 792 N/A INTRINSIC
low complexity region 885 914 N/A INTRINSIC
low complexity region 958 996 N/A INTRINSIC
Pfam:RhoGEF 1087 1247 3.7e-9 PFAM
PH 1264 1372 3.97e-8 SMART
low complexity region 1430 1443 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182217
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182644
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182931
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183213
Predicted Effect probably benign
Transcript: ENSMUST00000182828
Predicted Effect probably benign
Transcript: ENSMUST00000183208
SMART Domains Protein: ENSMUSP00000138354
Gene: ENSMUSG00000004562

DomainStartEndE-ValueType
low complexity region 201 223 N/A INTRINSIC
low complexity region 306 320 N/A INTRINSIC
low complexity region 332 345 N/A INTRINSIC
low complexity region 351 395 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182667
Predicted Effect probably benign
Transcript: ENSMUST00000182905
SMART Domains Protein: ENSMUSP00000138797
Gene: ENSMUSG00000004562

DomainStartEndE-ValueType
low complexity region 201 223 N/A INTRINSIC
low complexity region 306 320 N/A INTRINSIC
low complexity region 332 345 N/A INTRINSIC
low complexity region 351 395 N/A INTRINSIC
low complexity region 451 472 N/A INTRINSIC
low complexity region 550 564 N/A INTRINSIC
low complexity region 581 606 N/A INTRINSIC
low complexity region 773 792 N/A INTRINSIC
low complexity region 885 914 N/A INTRINSIC
low complexity region 958 996 N/A INTRINSIC
SCOP:d1kz7a1 1073 1162 4e-7 SMART
Blast:RhoGEF 1087 1157 1e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000182909
SMART Domains Protein: ENSMUSP00000138635
Gene: ENSMUSG00000004562

DomainStartEndE-ValueType
low complexity region 201 223 N/A INTRINSIC
low complexity region 306 320 N/A INTRINSIC
low complexity region 332 345 N/A INTRINSIC
low complexity region 351 395 N/A INTRINSIC
low complexity region 451 472 N/A INTRINSIC
low complexity region 550 564 N/A INTRINSIC
low complexity region 581 606 N/A INTRINSIC
low complexity region 773 792 N/A INTRINSIC
low complexity region 885 914 N/A INTRINSIC
low complexity region 958 996 N/A INTRINSIC
Pfam:RhoGEF 1087 1247 3.9e-9 PFAM
PH 1264 1372 3.97e-8 SMART
low complexity region 1403 1424 N/A INTRINSIC
low complexity region 1478 1491 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182760
SMART Domains Protein: ENSMUSP00000138125
Gene: ENSMUSG00000004562

DomainStartEndE-ValueType
low complexity region 201 223 N/A INTRINSIC
low complexity region 306 320 N/A INTRINSIC
low complexity region 332 345 N/A INTRINSIC
low complexity region 351 395 N/A INTRINSIC
low complexity region 451 472 N/A INTRINSIC
low complexity region 550 564 N/A INTRINSIC
low complexity region 581 606 N/A INTRINSIC
low complexity region 782 801 N/A INTRINSIC
low complexity region 894 923 N/A INTRINSIC
low complexity region 967 1005 N/A INTRINSIC
Pfam:RhoGEF 1096 1256 5.9e-9 PFAM
PH 1273 1381 3.97e-8 SMART
low complexity region 1412 1433 N/A INTRINSIC
low complexity region 1487 1500 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000228580
AA Change: V473A

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000226522
AA Change: V518A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000228747
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226474
Predicted Effect probably benign
Transcript: ENSMUST00000226605
Predicted Effect probably benign
Transcript: ENSMUST00000228162
Predicted Effect probably benign
Transcript: ENSMUST00000226527
Predicted Effect probably benign
Transcript: ENSMUST00000228051
Predicted Effect probably benign
Transcript: ENSMUST00000226554
Predicted Effect probably benign
Transcript: ENSMUST00000226964
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agxt2 A T 15: 10,378,968 (GRCm39) I190L possibly damaging Het
Ahnak2 A G 12: 112,745,944 (GRCm39) probably benign Het
Apol7b C A 15: 77,307,866 (GRCm39) V210L probably benign Het
Banf2 C T 2: 143,915,772 (GRCm39) T71M probably damaging Het
Cacna1s A G 1: 136,004,590 (GRCm39) D130G probably damaging Het
Capn8 T C 1: 182,426,306 (GRCm39) F214L possibly damaging Het
Ccdc168 A G 1: 44,099,283 (GRCm39) L605S probably benign Het
Cdk5rap2 A T 4: 70,157,520 (GRCm39) probably null Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Cpb1 T G 3: 20,303,865 (GRCm39) M400L probably benign Het
Eps15l1 A T 8: 73,153,531 (GRCm39) I52N possibly damaging Het
Gbp9 C G 5: 105,231,674 (GRCm39) G304A probably damaging Het
Gm14226 G A 2: 154,867,191 (GRCm39) V383I probably benign Het
Itprid1 A G 6: 55,864,051 (GRCm39) T126A probably benign Het
Npm2 A T 14: 70,885,749 (GRCm39) V152D possibly damaging Het
Nsd1 T C 13: 55,393,434 (GRCm39) V345A probably benign Het
Or56a3 T A 7: 104,735,808 (GRCm39) V295D probably damaging Het
Or5b107 T C 19: 13,142,855 (GRCm39) V159A possibly damaging Het
Or5b118 T C 19: 13,448,919 (GRCm39) I195T probably benign Het
Or5p58 T C 7: 107,694,222 (GRCm39) D185G probably benign Het
Otof T A 5: 30,532,344 (GRCm39) H1601L possibly damaging Het
Plat G A 8: 23,262,228 (GRCm39) S84N probably benign Het
Prss30 T C 17: 24,192,130 (GRCm39) D224G probably damaging Het
Psg25 C A 7: 18,260,203 (GRCm39) V232F probably damaging Het
Ptch1 C T 13: 63,682,143 (GRCm39) R537H probably damaging Het
Pus7l G T 15: 94,421,371 (GRCm39) H646Q probably benign Het
Ryr1 C T 7: 28,789,581 (GRCm39) S1511N probably damaging Het
Slc16a1 A G 3: 104,562,794 (GRCm39) K413R probably benign Het
Snrnp48 T A 13: 38,400,304 (GRCm39) M137K probably benign Het
Tecta T A 9: 42,248,570 (GRCm39) H1944L possibly damaging Het
Tmem145 A G 7: 25,006,587 (GRCm39) E65G possibly damaging Het
Vmn2r87 A T 10: 130,315,678 (GRCm39) Y129* probably null Het
Wdr7 A G 18: 63,910,621 (GRCm39) H671R possibly damaging Het
Zfp472 T C 17: 33,196,542 (GRCm39) W206R possibly damaging Het
Other mutations in Zfp219
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02134:Zfp219 APN 14 52,246,758 (GRCm39) missense probably damaging 1.00
Bart UTSW 14 52,244,163 (GRCm39) missense probably damaging 0.99
Bert UTSW 14 52,244,395 (GRCm39) missense probably benign 0.02
R0019:Zfp219 UTSW 14 52,246,485 (GRCm39) missense probably damaging 1.00
R0103:Zfp219 UTSW 14 52,244,163 (GRCm39) missense probably damaging 0.99
R0811:Zfp219 UTSW 14 52,244,395 (GRCm39) missense probably benign 0.02
R0812:Zfp219 UTSW 14 52,244,395 (GRCm39) missense probably benign 0.02
R1677:Zfp219 UTSW 14 52,246,512 (GRCm39) missense probably damaging 1.00
R1773:Zfp219 UTSW 14 52,244,563 (GRCm39) missense probably damaging 0.99
R1921:Zfp219 UTSW 14 52,245,691 (GRCm39) missense probably benign 0.00
R2929:Zfp219 UTSW 14 52,246,436 (GRCm39) missense probably benign 0.00
R3970:Zfp219 UTSW 14 52,244,421 (GRCm39) missense probably benign 0.05
R5020:Zfp219 UTSW 14 52,247,112 (GRCm39) missense probably damaging 1.00
R5206:Zfp219 UTSW 14 52,247,022 (GRCm39) missense probably benign 0.40
R5244:Zfp219 UTSW 14 52,245,999 (GRCm39) missense possibly damaging 0.64
R5907:Zfp219 UTSW 14 52,244,606 (GRCm39) critical splice acceptor site probably null
R6903:Zfp219 UTSW 14 52,244,118 (GRCm39) missense probably benign 0.31
R7409:Zfp219 UTSW 14 52,244,570 (GRCm39) nonsense probably null
R8725:Zfp219 UTSW 14 52,244,899 (GRCm39) missense possibly damaging 0.58
R8937:Zfp219 UTSW 14 52,244,224 (GRCm39) missense probably damaging 0.98
R9135:Zfp219 UTSW 14 52,244,598 (GRCm39) missense probably damaging 1.00
R9157:Zfp219 UTSW 14 52,246,200 (GRCm39) missense probably damaging 0.99
R9203:Zfp219 UTSW 14 52,246,405 (GRCm39) missense probably damaging 0.98
R9297:Zfp219 UTSW 14 52,246,494 (GRCm39) missense probably damaging 0.98
R9313:Zfp219 UTSW 14 52,246,200 (GRCm39) missense probably damaging 0.99
R9717:Zfp219 UTSW 14 52,247,049 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCACACCCACATGTATTTTGC -3'
(R):5'- TTTTGAGCCCAAAGGGATGG -3'

Sequencing Primer
(F):5'- TCAATTTACAAACTTCATCCCAAGG -3'
(R):5'- CCAAAGGGATGGTGGGTATAATG -3'
Posted On 2015-07-21