Incidental Mutation 'IGL02134:Zfp219'
ID |
281228 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp219
|
Ensembl Gene |
ENSMUSG00000049295 |
Gene Name |
zinc finger protein 219 |
Synonyms |
2010302A17Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02134
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
52243534-52258190 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 52246758 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 78
(L78P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153966
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067549]
[ENSMUST00000093813]
[ENSMUST00000100639]
[ENSMUST00000166169]
[ENSMUST00000182061]
[ENSMUST00000226522]
[ENSMUST00000226527]
[ENSMUST00000182909]
[ENSMUST00000183208]
[ENSMUST00000226554]
[ENSMUST00000182760]
[ENSMUST00000182905]
[ENSMUST00000226964]
[ENSMUST00000228580]
[ENSMUST00000228747]
[ENSMUST00000228162]
[ENSMUST00000228051]
[ENSMUST00000226605]
|
AlphaFold |
Q6IQX8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067549
AA Change: L123P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000068184 Gene: ENSMUSG00000049295 AA Change: L123P
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: L123P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126854 Gene: ENSMUSG00000049295 AA Change: L123P
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: ENSMUST00000182644
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182777
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182931
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183213
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226522
AA Change: L123P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000226527
AA Change: L123P
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182828
|
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: 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: ENSMUST00000226554
|
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 |
noncoding transcript
Transcript: ENSMUST00000226474
|
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 damaging
Transcript: ENSMUST00000226964
AA Change: L123P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228580
AA Change: L78P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000228747
AA Change: L123P
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228162
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228051
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226605
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf4 |
T |
C |
17: 42,980,581 (GRCm39) |
N168S |
probably damaging |
Het |
Angptl3 |
A |
T |
4: 98,919,349 (GRCm39) |
R36S |
probably damaging |
Het |
Ap5z1 |
T |
C |
5: 142,460,214 (GRCm39) |
F514L |
probably benign |
Het |
Arhgef39 |
C |
A |
4: 43,497,578 (GRCm39) |
|
probably null |
Het |
Aste1 |
A |
G |
9: 105,275,043 (GRCm39) |
S11G |
probably damaging |
Het |
Cadm4 |
T |
C |
7: 24,198,986 (GRCm39) |
V87A |
probably benign |
Het |
Cd177 |
A |
G |
7: 24,451,777 (GRCm39) |
I413T |
probably benign |
Het |
Col5a2 |
A |
G |
1: 45,430,230 (GRCm39) |
|
probably null |
Het |
Dera |
C |
T |
6: 137,807,269 (GRCm39) |
A239V |
probably damaging |
Het |
Ecm1 |
T |
C |
3: 95,643,499 (GRCm39) |
E283G |
probably damaging |
Het |
Eml6 |
G |
T |
11: 29,709,066 (GRCm39) |
H24N |
probably benign |
Het |
Etl4 |
A |
G |
2: 20,811,240 (GRCm39) |
K1425E |
possibly damaging |
Het |
Fgd3 |
G |
A |
13: 49,450,225 (GRCm39) |
S8L |
possibly damaging |
Het |
Gli1 |
T |
C |
10: 127,172,369 (GRCm39) |
E228G |
probably benign |
Het |
Hivep3 |
A |
G |
4: 119,990,771 (GRCm39) |
|
probably benign |
Het |
Iqcc |
A |
G |
4: 129,512,818 (GRCm39) |
S11P |
probably damaging |
Het |
Itpkc |
G |
A |
7: 26,927,300 (GRCm39) |
Q205* |
probably null |
Het |
Jmjd1c |
T |
A |
10: 67,056,171 (GRCm39) |
S530R |
possibly damaging |
Het |
Kcnq1 |
A |
G |
7: 142,737,453 (GRCm39) |
H257R |
possibly damaging |
Het |
Kcnt2 |
G |
A |
1: 140,304,121 (GRCm39) |
V164I |
probably benign |
Het |
Lgr5 |
T |
C |
10: 115,288,763 (GRCm39) |
H603R |
possibly damaging |
Het |
Lrp2 |
T |
C |
2: 69,343,723 (GRCm39) |
|
probably null |
Het |
Lrrn2 |
A |
G |
1: 132,865,555 (GRCm39) |
M207V |
possibly damaging |
Het |
Miip |
A |
G |
4: 147,949,735 (GRCm39) |
|
probably benign |
Het |
Mrps35 |
T |
C |
6: 146,949,808 (GRCm39) |
|
probably benign |
Het |
Nuf2 |
A |
T |
1: 169,341,069 (GRCm39) |
M184K |
probably benign |
Het |
Or10q1 |
C |
A |
19: 13,727,165 (GRCm39) |
R232S |
probably benign |
Het |
Or14j2 |
C |
T |
17: 37,886,249 (GRCm39) |
E22K |
probably benign |
Het |
Or2f2 |
A |
G |
6: 42,767,398 (GRCm39) |
T142A |
probably benign |
Het |
Or4a15 |
A |
T |
2: 89,193,172 (GRCm39) |
N200K |
probably damaging |
Het |
Or8g32 |
A |
T |
9: 39,305,830 (GRCm39) |
I248F |
probably damaging |
Het |
Os9 |
T |
C |
10: 126,956,861 (GRCm39) |
I42V |
possibly damaging |
Het |
Rapgef4 |
A |
C |
2: 72,010,405 (GRCm39) |
Q177P |
probably damaging |
Het |
Rhpn2 |
T |
C |
7: 35,070,536 (GRCm39) |
|
probably benign |
Het |
Scn5a |
T |
C |
9: 119,314,958 (GRCm39) |
R1916G |
probably damaging |
Het |
Serpine1 |
T |
A |
5: 137,095,889 (GRCm39) |
|
probably benign |
Het |
Snd1 |
C |
T |
6: 28,880,278 (GRCm39) |
P684L |
possibly damaging |
Het |
Tgds |
T |
C |
14: 118,350,534 (GRCm39) |
N340D |
probably benign |
Het |
Trpc4 |
A |
T |
3: 54,223,075 (GRCm39) |
Y706F |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,584,166 (GRCm39) |
D22314V |
probably damaging |
Het |
Utrn |
G |
A |
10: 12,519,163 (GRCm39) |
T2263I |
probably damaging |
Het |
Vmn1r11 |
A |
T |
6: 57,115,022 (GRCm39) |
T229S |
possibly damaging |
Het |
Zfp142 |
T |
G |
1: 74,609,022 (GRCm39) |
H1488P |
probably damaging |
Het |
Zfp629 |
T |
A |
7: 127,211,042 (GRCm39) |
T256S |
probably benign |
Het |
|
Other mutations in Zfp219 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2015-04-16 |