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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |