Incidental Mutation 'R5995:Zfp521'
| ID |
481092 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp521
|
| Ensembl Gene |
ENSMUSG00000024420 |
| Gene Name |
zinc finger protein 521 |
| Synonyms |
Evi3, B930086A16Rik |
| MMRRC Submission |
044174-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.926)
|
| Stock # |
R5995 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
13820070-14105812 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 13850681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 1261
(C1261F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025288]
|
| AlphaFold |
Q6KAS7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025288
AA Change: C1261F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025288
Gene: ENSMUSG00000024420
AA Change: C1261F
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
47 |
68 |
3.47e1 |
SMART |
|
low complexity region
|
82 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
113 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
118 |
140 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
146 |
168 |
1.33e-1 |
SMART |
|
ZnF_C2H2
|
174 |
196 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
202 |
224 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
246 |
269 |
6.57e-1 |
SMART |
|
ZnF_C2H2
|
281 |
304 |
3.52e-1 |
SMART |
|
ZnF_C2H2
|
310 |
332 |
1.76e-1 |
SMART |
|
low complexity region
|
345 |
358 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
405 |
429 |
4.34e-1 |
SMART |
|
ZnF_C2H2
|
437 |
460 |
6.23e-2 |
SMART |
|
ZnF_C2H2
|
477 |
500 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
513 |
536 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
560 |
585 |
1.86e0 |
SMART |
|
ZnF_C2H2
|
634 |
656 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
664 |
686 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
694 |
717 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
722 |
745 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
752 |
775 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
783 |
805 |
2.05e-2 |
SMART |
|
ZnF_C2H2
|
809 |
832 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
886 |
909 |
1.86e0 |
SMART |
|
ZnF_C2H2
|
930 |
952 |
3.04e-5 |
SMART |
|
ZnF_C2H2
|
959 |
981 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
988 |
1010 |
7.49e0 |
SMART |
|
ZnF_C2H2
|
1020 |
1042 |
4.99e1 |
SMART |
|
Blast:RING
|
1067 |
1098 |
1e-9 |
BLAST |
|
low complexity region
|
1099 |
1119 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1138 |
1161 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
1195 |
1217 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
1225 |
1247 |
2.32e-1 |
SMART |
|
ZnF_C2H2
|
1256 |
1279 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
1286 |
1309 |
5.72e-1 |
SMART |
|
| Meta Mutation Damage Score |
0.9706 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
| Validation Efficiency |
100% (56/56) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal growth retardation, behavioral anomalies including hyperlocomotion, lower anxiety, higher impulsivity and impaired learning, abnormal formation of the neuronal cell layers of the dentate gyrus in the hippocampus, and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
| Adgrb2 |
C |
A |
4: 129,910,896 (GRCm39) |
A1104E |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,614,378 (GRCm39) |
V4005A |
probably benign |
Het |
| Bend6 |
T |
C |
1: 33,917,520 (GRCm39) |
|
probably null |
Het |
| Brwd1 |
A |
T |
16: 95,865,987 (GRCm39) |
V265E |
probably damaging |
Het |
| Ccdc96 |
A |
G |
5: 36,643,718 (GRCm39) |
I575V |
probably damaging |
Het |
| Cd109 |
A |
T |
9: 78,607,561 (GRCm39) |
I1094L |
probably benign |
Het |
| Cd44 |
A |
G |
2: 102,692,015 (GRCm39) |
V91A |
probably damaging |
Het |
| Cdv3 |
C |
G |
9: 103,241,202 (GRCm39) |
G122R |
probably damaging |
Het |
| Ces2c |
T |
A |
8: 105,577,533 (GRCm39) |
V272D |
possibly damaging |
Het |
| Colgalt1 |
T |
A |
8: 72,075,754 (GRCm39) |
M467K |
probably damaging |
Het |
| Crtam |
G |
A |
9: 40,905,836 (GRCm39) |
T31M |
possibly damaging |
Het |
| Cyp7a1 |
C |
T |
4: 6,272,371 (GRCm39) |
V281M |
possibly damaging |
Het |
| Dnah7a |
A |
T |
1: 53,659,829 (GRCm39) |
N726K |
probably benign |
Het |
| Dok6 |
T |
C |
18: 89,439,142 (GRCm39) |
E232G |
possibly damaging |
Het |
| Gm12185 |
T |
C |
11: 48,806,540 (GRCm39) |
E217G |
probably benign |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Gria1 |
A |
T |
11: 57,180,111 (GRCm39) |
Y618F |
probably damaging |
Het |
| H2-T22 |
A |
G |
17: 36,352,377 (GRCm39) |
Y183H |
probably benign |
Het |
| Hace1 |
A |
T |
10: 45,546,487 (GRCm39) |
I374L |
probably benign |
Het |
| Hif3a |
T |
A |
7: 16,787,694 (GRCm39) |
T132S |
probably benign |
Het |
| Hoxa3 |
T |
A |
6: 52,147,263 (GRCm39) |
|
probably benign |
Het |
| Il27 |
A |
C |
7: 126,188,535 (GRCm39) |
|
probably benign |
Het |
| Klhdc1 |
T |
C |
12: 69,297,548 (GRCm39) |
Y40H |
probably damaging |
Het |
| Klhl33 |
T |
G |
14: 51,130,108 (GRCm39) |
E462A |
possibly damaging |
Het |
| Myh10 |
T |
C |
11: 68,705,809 (GRCm39) |
I1979T |
probably benign |
Het |
| Nfkbil1 |
G |
T |
17: 35,439,774 (GRCm39) |
F246L |
probably benign |
Het |
| Nlrp1b |
A |
T |
11: 71,072,572 (GRCm39) |
F424I |
probably damaging |
Het |
| Nod1 |
A |
G |
6: 54,921,539 (GRCm39) |
Y260H |
probably damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,433,898 (GRCm39) |
L69P |
probably damaging |
Het |
| Onecut2 |
G |
T |
18: 64,474,619 (GRCm39) |
R390L |
probably damaging |
Het |
| Oprm1 |
A |
C |
10: 6,782,520 (GRCm39) |
M388L |
probably benign |
Het |
| Or10q3 |
A |
T |
19: 11,848,226 (GRCm39) |
I118N |
possibly damaging |
Het |
| Or1e26 |
T |
C |
11: 73,480,076 (GRCm39) |
I163V |
probably benign |
Het |
| Or1o3 |
C |
A |
17: 37,574,539 (GRCm39) |
Q5H |
probably benign |
Het |
| Or5aq1 |
T |
C |
2: 86,966,200 (GRCm39) |
N155S |
probably damaging |
Het |
| Or5b96 |
A |
C |
19: 12,867,961 (GRCm39) |
|
probably null |
Het |
| Or8g53 |
A |
G |
9: 39,683,988 (GRCm39) |
V36A |
probably benign |
Het |
| Pcdhgc5 |
T |
A |
18: 37,954,113 (GRCm39) |
Y462* |
probably null |
Het |
| Pex1 |
T |
A |
5: 3,657,704 (GRCm39) |
M425K |
possibly damaging |
Het |
| Plec |
A |
T |
15: 76,070,105 (GRCm39) |
Y1001N |
probably damaging |
Het |
| Poglut3 |
T |
C |
9: 53,307,195 (GRCm39) |
Y380H |
probably damaging |
Het |
| Pou2f2 |
T |
G |
7: 24,796,869 (GRCm39) |
K236Q |
probably damaging |
Het |
| Rbm20 |
G |
A |
19: 53,839,698 (GRCm39) |
E896K |
possibly damaging |
Het |
| Sh3tc2 |
T |
A |
18: 62,123,081 (GRCm39) |
L614Q |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,751,029 (GRCm39) |
I339F |
unknown |
Het |
| Slc2a7 |
T |
C |
4: 150,252,797 (GRCm39) |
I479T |
probably damaging |
Het |
| Snrk |
A |
G |
9: 121,986,288 (GRCm39) |
N219S |
probably damaging |
Het |
| Supt20 |
T |
C |
3: 54,616,474 (GRCm39) |
S245P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,591,636 (GRCm39) |
I21011T |
probably damaging |
Het |
| Vmn2r11 |
T |
A |
5: 109,194,921 (GRCm39) |
I802F |
probably damaging |
Het |
| Vmn2r92 |
T |
C |
17: 18,389,213 (GRCm39) |
|
probably null |
Het |
| Ythdc2 |
T |
A |
18: 45,019,320 (GRCm39) |
M1363K |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,377,071 (GRCm39) |
|
probably benign |
Het |
| Zfp980 |
A |
T |
4: 145,428,479 (GRCm39) |
K403* |
probably null |
Het |
|
| Other mutations in Zfp521 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Zfp521
|
APN |
18 |
13,979,559 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL00499:Zfp521
|
APN |
18 |
14,072,177 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01291:Zfp521
|
APN |
18 |
13,950,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01335:Zfp521
|
APN |
18 |
13,977,776 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL01384:Zfp521
|
APN |
18 |
13,976,980 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL01520:Zfp521
|
APN |
18 |
14,072,045 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02248:Zfp521
|
APN |
18 |
13,977,303 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02640:Zfp521
|
APN |
18 |
13,977,987 (GRCm39) |
missense |
probably benign |
0.00 |
|
ANU05:Zfp521
|
UTSW |
18 |
13,950,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0113:Zfp521
|
UTSW |
18 |
13,978,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0197:Zfp521
|
UTSW |
18 |
13,978,119 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0457:Zfp521
|
UTSW |
18 |
13,977,897 (GRCm39) |
missense |
probably benign |
|
|
R0494:Zfp521
|
UTSW |
18 |
13,979,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0494:Zfp521
|
UTSW |
18 |
13,978,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Zfp521
|
UTSW |
18 |
13,978,119 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2133:Zfp521
|
UTSW |
18 |
13,977,762 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2263:Zfp521
|
UTSW |
18 |
13,979,297 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3699:Zfp521
|
UTSW |
18 |
13,979,330 (GRCm39) |
nonsense |
probably null |
|
|
R3760:Zfp521
|
UTSW |
18 |
13,977,686 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3851:Zfp521
|
UTSW |
18 |
13,850,808 (GRCm39) |
splice site |
probably benign |
|
|
R3950:Zfp521
|
UTSW |
18 |
13,979,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4398:Zfp521
|
UTSW |
18 |
13,979,601 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4583:Zfp521
|
UTSW |
18 |
13,977,387 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4688:Zfp521
|
UTSW |
18 |
13,977,648 (GRCm39) |
nonsense |
probably null |
|
|
R4688:Zfp521
|
UTSW |
18 |
13,977,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4698:Zfp521
|
UTSW |
18 |
13,978,660 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4738:Zfp521
|
UTSW |
18 |
13,977,111 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5031:Zfp521
|
UTSW |
18 |
13,977,330 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5137:Zfp521
|
UTSW |
18 |
13,978,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5257:Zfp521
|
UTSW |
18 |
13,980,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5420:Zfp521
|
UTSW |
18 |
13,977,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5917:Zfp521
|
UTSW |
18 |
13,978,612 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6088:Zfp521
|
UTSW |
18 |
13,979,166 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6150:Zfp521
|
UTSW |
18 |
13,977,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6261:Zfp521
|
UTSW |
18 |
13,977,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7649:Zfp521
|
UTSW |
18 |
13,977,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7662:Zfp521
|
UTSW |
18 |
13,977,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7774:Zfp521
|
UTSW |
18 |
13,978,838 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7935:Zfp521
|
UTSW |
18 |
13,977,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8225:Zfp521
|
UTSW |
18 |
13,978,359 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8486:Zfp521
|
UTSW |
18 |
13,979,829 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8686:Zfp521
|
UTSW |
18 |
13,978,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8852:Zfp521
|
UTSW |
18 |
14,072,150 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8883:Zfp521
|
UTSW |
18 |
13,979,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8897:Zfp521
|
UTSW |
18 |
13,979,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8898:Zfp521
|
UTSW |
18 |
13,979,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8899:Zfp521
|
UTSW |
18 |
13,979,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8910:Zfp521
|
UTSW |
18 |
13,977,233 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8959:Zfp521
|
UTSW |
18 |
13,979,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8980:Zfp521
|
UTSW |
18 |
13,979,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8989:Zfp521
|
UTSW |
18 |
13,979,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8990:Zfp521
|
UTSW |
18 |
13,979,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8991:Zfp521
|
UTSW |
18 |
13,979,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9276:Zfp521
|
UTSW |
18 |
13,977,698 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9453:Zfp521
|
UTSW |
18 |
13,977,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9478:Zfp521
|
UTSW |
18 |
13,950,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9524:Zfp521
|
UTSW |
18 |
13,980,173 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9643:Zfp521
|
UTSW |
18 |
13,978,922 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Zfp521
|
UTSW |
18 |
13,848,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACAGTTAACCTTCCCGCC -3'
(R):5'- AGAGGTATCCTGGCTCTATCAC -3'
Sequencing Primer
(F):5'- GGCTCAGTCTCTAAAGCAGACTG -3'
(R):5'- GGTATCCTGGCTCTATCACAAAGACG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation