Incidental Mutation 'R2929:Zfp219'
| ID |
254957 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2929 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
52243534-52258190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 52246436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 230
(E230D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067549]
[ENSMUST00000093813]
[ENSMUST00000100639]
[ENSMUST00000166169]
[ENSMUST00000182061]
[ENSMUST00000226522]
[ENSMUST00000182905]
[ENSMUST00000182909]
[ENSMUST00000226527]
[ENSMUST00000183208]
[ENSMUST00000226554]
[ENSMUST00000182760]
[ENSMUST00000228580]
[ENSMUST00000228051]
[ENSMUST00000228162]
[ENSMUST00000228747]
[ENSMUST00000226605]
[ENSMUST00000226964]
|
| AlphaFold |
Q6IQX8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067549
AA Change: E230D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000068184
Gene: ENSMUSG00000049295
AA Change: E230D
| 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 benign
Transcript: ENSMUST00000166169
AA Change: E230D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000126854
Gene: ENSMUSG00000049295
AA Change: E230D
| 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: ENSMUST00000182931
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183213
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182777
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226522
AA Change: E230D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| 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: ENSMUST00000226527
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000226474
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182828
|
| 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 |
probably benign
Transcript: ENSMUST00000228580
AA Change: E185D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228051
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228162
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228747
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226605
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226964
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cd177 |
G |
A |
7: 24,453,704 (GRCm39) |
Q396* |
probably null |
Het |
| Cdadc1 |
A |
T |
14: 59,835,284 (GRCm39) |
M1K |
probably null |
Het |
| Cdc23 |
ACC |
AC |
18: 34,770,371 (GRCm39) |
|
probably null |
Het |
| Cnnm3 |
T |
A |
1: 36,563,140 (GRCm39) |
F701L |
possibly damaging |
Het |
| Cul7 |
C |
G |
17: 46,962,526 (GRCm39) |
D52E |
probably benign |
Het |
| Dennd4a |
T |
C |
9: 64,759,699 (GRCm39) |
V268A |
possibly damaging |
Het |
| Deup1 |
C |
T |
9: 15,486,484 (GRCm39) |
V399I |
probably benign |
Het |
| Dscam |
T |
A |
16: 96,486,612 (GRCm39) |
Q1021L |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,206,143 (GRCm39) |
K932* |
probably null |
Het |
| Neurl2 |
T |
C |
2: 164,675,264 (GRCm39) |
N33D |
possibly damaging |
Het |
| Pnma8b |
T |
C |
7: 16,680,617 (GRCm39) |
S534P |
possibly damaging |
Het |
| Pole2 |
G |
A |
12: 69,256,712 (GRCm39) |
T271M |
probably benign |
Het |
| Ppfibp2 |
A |
G |
7: 107,296,858 (GRCm39) |
M191V |
probably damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,185 (GRCm39) |
Q369R |
probably benign |
Het |
| Rbm45 |
A |
G |
2: 76,208,763 (GRCm39) |
I300V |
probably benign |
Het |
| Ro60 |
G |
A |
1: 143,633,616 (GRCm39) |
A494V |
possibly damaging |
Het |
| Sco1 |
T |
A |
11: 66,954,748 (GRCm39) |
I251K |
probably damaging |
Het |
| Spmip4 |
G |
A |
6: 50,551,285 (GRCm39) |
T388I |
probably benign |
Het |
| Zfp202 |
T |
C |
9: 40,122,984 (GRCm39) |
V582A |
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 |
|
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'- GCATGATCAAAGGAGGCCTTG -3'
(R):5'- AAGGCAAGTTTCGCACCTCAG -3'
Sequencing Primer
(F):5'- ACCAGGACTGTGTAAAGCTCTG -3'
(R):5'- GTGCAGTTTTGGCTCCA -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation