Incidental Mutation 'R0103:Zfp219'
ID 34499
Institutional Source Beutler Lab
Gene Symbol Zfp219
Ensembl Gene ENSMUSG00000049295
Gene Name zinc finger protein 219
Synonyms 2010302A17Rik
MMRRC Submission 038389-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0103 (G1)
Quality Score 103
Status Validated (trace)
Chromosome 14
Chromosomal Location 52243534-52258190 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52244163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 627 (H627L)
Ref Sequence ENSEMBL: ENSMUSP00000153966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067549] [ENSMUST00000093813] [ENSMUST00000100639] [ENSMUST00000166169] [ENSMUST00000182061] [ENSMUST00000226522] [ENSMUST00000226527] [ENSMUST00000182760] [ENSMUST00000182909] [ENSMUST00000183208] [ENSMUST00000182905] [ENSMUST00000228580] [ENSMUST00000228162] [ENSMUST00000226554] [ENSMUST00000226605] [ENSMUST00000226964] [ENSMUST00000228747] [ENSMUST00000228051]
AlphaFold Q6IQX8
Predicted Effect probably damaging
Transcript: ENSMUST00000067549
AA Change: H672L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000068184
Gene: ENSMUSG00000049295
AA Change: H672L

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: H672L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126854
Gene: ENSMUSG00000049295
AA Change: H672L

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: ENSMUST00000183213
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182644
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182931
Predicted Effect probably damaging
Transcript: ENSMUST00000226522
AA Change: H672L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000226527
Predicted Effect probably benign
Transcript: ENSMUST00000182828
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226474
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 benign
Transcript: ENSMUST00000182667
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: 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: 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 damaging
Transcript: ENSMUST00000228580
AA Change: H627L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000228162
Predicted Effect probably benign
Transcript: ENSMUST00000226554
Predicted Effect probably benign
Transcript: ENSMUST00000226605
Predicted Effect probably benign
Transcript: ENSMUST00000226964
Predicted Effect probably benign
Transcript: ENSMUST00000228747
Predicted Effect probably benign
Transcript: ENSMUST00000228051
Meta Mutation Damage Score 0.1736 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 99% (84/85)
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,223,951 (GRCm39) R443S probably damaging Het
Anapc1 T C 2: 128,522,372 (GRCm39) probably benign Het
Aqr T A 2: 113,979,497 (GRCm39) I313F probably damaging Het
Arfgap3 A T 15: 83,206,922 (GRCm39) probably benign Het
Asah2 G T 19: 31,996,377 (GRCm39) H374N probably benign Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
Ccdc106 C A 7: 5,060,544 (GRCm39) Q35K probably benign Het
Ccm2l G T 2: 152,909,839 (GRCm39) E64* probably null Het
Cep85l A T 10: 53,154,270 (GRCm39) D776E possibly damaging Het
Cfap52 T A 11: 67,815,951 (GRCm39) I611F possibly damaging Het
Cldn22 C T 8: 48,277,589 (GRCm39) T9M probably benign Het
Coa7 T C 4: 108,195,338 (GRCm39) L89P possibly damaging Het
Cox7a2l A T 17: 83,821,701 (GRCm39) Y2N probably damaging Het
Ctns A C 11: 73,076,137 (GRCm39) I299M probably damaging Het
Cyp27a1 A C 1: 74,775,074 (GRCm39) E301A probably benign Het
Cyp2b13 A T 7: 25,788,135 (GRCm39) K421M probably damaging Het
Cyp4f40 G T 17: 32,895,282 (GRCm39) C468F probably damaging Het
Cyp4f40 C A 17: 32,895,283 (GRCm39) C468* probably null Het
Dcun1d5 G A 9: 7,188,788 (GRCm39) C74Y probably damaging Het
Dennd4c A G 4: 86,730,683 (GRCm39) Y860C probably benign Het
Dgkz T C 2: 91,764,550 (GRCm39) T1028A probably benign Het
Dhx58 T C 11: 100,586,096 (GRCm39) T642A probably damaging Het
Dlg4 A G 11: 69,922,019 (GRCm39) Y87C probably damaging Het
Dnah6 C T 6: 73,069,155 (GRCm39) E2511K probably damaging Het
Entpd5 C A 12: 84,443,717 (GRCm39) E9* probably null Het
Fbln2 A C 6: 91,248,532 (GRCm39) I1066L probably benign Het
Fhl2 C T 1: 43,192,381 (GRCm39) R4H probably benign Het
Frmpd1 T A 4: 45,229,884 (GRCm39) I17K probably damaging Het
Galnt2l A G 8: 122,996,472 (GRCm39) probably benign Het
Gbp7 T A 3: 142,252,299 (GRCm39) N627K probably benign Het
Gnptab A G 10: 88,265,381 (GRCm39) Y331C probably damaging Het
Hdac4 T C 1: 91,903,366 (GRCm39) E521G possibly damaging Het
Hibadh T A 6: 52,534,862 (GRCm39) M173L probably benign Het
Iba57 C T 11: 59,054,439 (GRCm39) A27T probably benign Het
Itga1 T C 13: 115,152,790 (GRCm39) I211V probably benign Het
Keg1 A T 19: 12,696,280 (GRCm39) I155F possibly damaging Het
Krt84 T C 15: 101,438,671 (GRCm39) E272G probably damaging Het
Lrp2 C A 2: 69,307,384 (GRCm39) V2892L probably benign Het
Ltb A G 17: 35,414,016 (GRCm39) probably benign Het
Masp1 G A 16: 23,276,768 (GRCm39) P579L probably damaging Het
Mtor T A 4: 148,618,359 (GRCm39) M1724K probably benign Het
Myo3a T G 2: 22,436,360 (GRCm39) probably benign Het
Myo9b C T 8: 71,776,493 (GRCm39) probably benign Het
Ncor1 G T 11: 62,233,871 (GRCm39) Q444K possibly damaging Het
Nek7 A T 1: 138,471,980 (GRCm39) C53* probably null Het
Obscn G T 11: 58,953,522 (GRCm39) Y4044* probably null Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Pcdh15 A T 10: 74,046,257 (GRCm39) D178V probably damaging Het
Pcsk6 T C 7: 65,578,845 (GRCm39) probably benign Het
Phxr4 T C 9: 13,343,087 (GRCm39) probably benign Het
Pkhd1 T A 1: 20,593,583 (GRCm39) D1510V probably benign Het
Pkhd1l1 T C 15: 44,460,537 (GRCm39) C4249R probably benign Het
Plxnb2 A G 15: 89,045,972 (GRCm39) Y968H possibly damaging Het
Prpf39 T C 12: 65,102,057 (GRCm39) V378A possibly damaging Het
Psd2 A G 18: 36,137,770 (GRCm39) N455S probably damaging Het
Ptch2 C A 4: 116,966,622 (GRCm39) probably benign Het
Rab4b A G 7: 26,873,927 (GRCm39) I117T probably benign Het
Rad9b A T 5: 122,469,590 (GRCm39) V348E probably damaging Het
Rcor1 T C 12: 111,076,212 (GRCm39) probably benign Het
Rhoc A T 3: 104,699,307 (GRCm39) E32V possibly damaging Het
Rnf40 T G 7: 127,199,743 (GRCm39) V925G probably damaging Het
Rptor G T 11: 119,775,793 (GRCm39) R988L probably benign Het
Slc25a32 A T 15: 38,963,292 (GRCm39) Y176* probably null Het
Slc7a1 T A 5: 148,289,236 (GRCm39) K4* probably null Het
Ss18 A C 18: 14,812,478 (GRCm39) Y38D probably damaging Het
Syt4 T A 18: 31,580,273 (GRCm39) probably benign Het
Taar4 A T 10: 23,837,304 (GRCm39) N305Y probably damaging Het
Taar7b A T 10: 23,876,192 (GRCm39) Y119F probably benign Het
Tcaf1 G T 6: 42,663,324 (GRCm39) D185E probably benign Het
Tmem138 T C 19: 10,552,316 (GRCm39) N62S possibly damaging Het
Tnfaip2 C T 12: 111,412,244 (GRCm39) T215M probably benign Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tnfrsf25 C T 4: 152,201,405 (GRCm39) P65S possibly damaging Het
Trp53bp1 A T 2: 121,067,240 (GRCm39) S495R possibly damaging Het
Trpv3 T C 11: 73,184,805 (GRCm39) F597S probably damaging Het
Tsc22d4 A C 5: 137,745,378 (GRCm39) M1L possibly damaging Het
Ttc39a A G 4: 109,278,650 (GRCm39) probably null Het
Ttn T G 2: 76,591,570 (GRCm39) H21033P probably damaging Het
Ugt2a3 A G 5: 87,484,577 (GRCm39) V149A possibly damaging Het
Ush2a T G 1: 188,051,267 (GRCm39) I251R possibly damaging Het
Vamp4 T C 1: 162,417,108 (GRCm39) C114R possibly damaging Het
Wdr33 T C 18: 31,966,388 (GRCm39) V135A probably damaging Het
Zc3h13 T A 14: 75,567,908 (GRCm39) V1067E probably damaging Het
Zcwpw1 G A 5: 137,808,375 (GRCm39) W274* probably null 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
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
R4485:Zfp219 UTSW 14 52,244,841 (GRCm39) missense probably damaging 0.99
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'- AGCTAATCACTCCTAAGAGGGCTCC -3'
(R):5'- GCTCAAGTATCACCTTCAGCGTCAC -3'

Sequencing Primer
(F):5'- TAAGAGGGCTCCCTACCGTTC -3'
(R):5'- TAGAGGGCACTGCAAGTACC -3'
Nature of Mutation
    TTGCATCTGCAAGTACACCATAGCCGTCGTGCT
667 -L--H--L--Q--V--H--H--S--R--R--A-
    


Genotyping

NOTE: These primers have not been validated. (?)

Primer ID: R01030077

R0103:Zfp219 genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the single nucleotide transversion.

PCR Primers

R01030077 (F): 5’- AGCTAATCACTCCTAAGAGGGCTCC -3’

R01030077 (R): 5’- GCTCAAGTATCACCTTCAGCGTCAC -3’

Sequencing Primers

R01030077_seq(F): 5’- TAAGAGGGCTCCCTACCGTTC -3’
 

R01030077_seq(R): 5’- TAGAGGGCACTGCAAGTACC -3’
 

PCR program

1) 94°C             2:00

2) 94°C             0:30

3) 55°C             0:30

4) 72°C             1:00

5) repeat steps (2-4) 40X

6) 72°C             10:00

7) 4°C               ∞

The following sequence of 578 nucleotides is amplified (Chr.14: 52006515-52007092, GRCm38; NC_000080):

agctaatcac tcctaagagg gctccctacc gttcttgccc cccaagacct gcctctccgg       

atctagacag ccctgggctg ccctcctctt ctagtggagg actgggaggg gtctctcctg       

atggtgcccg gacataggtt ggagacgtgt cggctcgggg ctgccggcgg ccccgagcac      

gacggctatg gtgtacttgc agatgcaagg ccatgagctc aggagctcca gtggcaaagg      

ggcagaagag gcagcggtga agggcacccc ctgccccggc ctcacctccc gggcccgccc      

gtagggacag gtccaggggt tcggcttcac cacctcgccc gtttcgcagg gtcctcccag      

ggctagcagg cttcctacgg gaccctggtc cggtgctgct cgaaggaggc cgggtacttg      

cagtgccctc tacccaggtg gctgaggcct gagttggctt ggctcctgac tgcggctgca      

gtgagccccg ctgggaaggt ggcgggggtt ctgggggagg cccaggaccc gcactgctcc      

tctgctctcg gtggtgacgc tgaaggtgat acttgagc

FASTA sequence

Posted On 2013-05-09