Incidental Mutation 'R3946:Zfp335'
| ID |
307695 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp335
|
| Ensembl Gene |
ENSMUSG00000039834 |
| Gene Name |
zinc finger protein 335 |
| Synonyms |
1810045J01Rik |
| MMRRC Submission |
040827-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3946 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
164733802-164753677 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 164734109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1330
(D1330G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038298
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041361]
[ENSMUST00000041643]
[ENSMUST00000183830]
|
| AlphaFold |
A2A5K6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041361
AA Change: D1330G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038298
Gene: ENSMUSG00000039834
AA Change: D1330G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
248 |
271 |
4.24e-4 |
SMART |
|
low complexity region
|
275 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
321 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
445 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
466 |
488 |
2.17e-1 |
SMART |
|
ZnF_C2H2
|
496 |
518 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
524 |
546 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
563 |
585 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
591 |
613 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
622 |
644 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
650 |
673 |
8.22e-2 |
SMART |
|
ZnF_C2H2
|
679 |
702 |
3.29e-1 |
SMART |
|
low complexity region
|
711 |
726 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
770 |
937 |
7.16e-5 |
PROSPERO |
|
low complexity region
|
1005 |
1015 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1019 |
1041 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
1047 |
1069 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
1075 |
1097 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
1103 |
1126 |
3.34e-2 |
SMART |
|
low complexity region
|
1288 |
1305 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041643
|
| SMART Domains |
Protein: ENSMUSP00000039555
Gene: ENSMUSG00000039849
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
44 |
77 |
4.34e-4 |
SMART |
|
low complexity region
|
132 |
148 |
N/A |
INTRINSIC |
|
Pfam:PCIF1_WW
|
445 |
620 |
7.1e-74 |
PFAM |
|
low complexity region
|
675 |
686 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183830
|
| SMART Domains |
Protein: ENSMUSP00000139133
Gene: ENSMUSG00000039834
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
248 |
271 |
4.24e-4 |
SMART |
|
low complexity region
|
275 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
321 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
445 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
466 |
488 |
2.17e-1 |
SMART |
|
ZnF_C2H2
|
496 |
518 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
524 |
546 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
563 |
585 |
2.79e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.7414 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
98% (60/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene enhances transcriptional activation by ligand-bound nuclear hormone receptors. However, it does this not by direct interaction with the receptor, but by direct interaction with the nuclear hormone receptor transcriptional coactivator NRC. The encoded protein may function by altering local chromatin structure. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality before implantation. Mice homozygous for a conditional allele activated in the brain exhibit loss of cortical neurons and decreased brain size. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi2 |
A |
G |
1: 60,492,913 (GRCm39) |
Q328R |
probably damaging |
Het |
| Agr3 |
C |
A |
12: 35,997,512 (GRCm39) |
|
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,460,169 (GRCm39) |
S481R |
probably damaging |
Het |
| Cabin1 |
T |
G |
10: 75,581,093 (GRCm39) |
Q411P |
probably damaging |
Het |
| Calr3 |
A |
G |
8: 73,197,464 (GRCm39) |
Y22H |
probably damaging |
Het |
| Caprin1 |
T |
A |
2: 103,627,111 (GRCm39) |
I59F |
probably damaging |
Het |
| Cdk5rap1 |
T |
C |
2: 154,190,636 (GRCm39) |
T442A |
probably damaging |
Het |
| Chn2 |
T |
C |
6: 54,246,411 (GRCm39) |
|
probably benign |
Het |
| Cic |
C |
A |
7: 24,971,771 (GRCm39) |
R501S |
possibly damaging |
Het |
| Coch |
A |
G |
12: 51,648,595 (GRCm39) |
|
probably null |
Het |
| Defa25 |
G |
A |
8: 21,574,506 (GRCm39) |
V17I |
probably null |
Het |
| Dglucy |
T |
C |
12: 100,804,959 (GRCm39) |
|
probably null |
Het |
| Dtx1 |
T |
G |
5: 120,819,351 (GRCm39) |
T616P |
possibly damaging |
Het |
| Eef1g |
T |
C |
19: 8,947,341 (GRCm39) |
L171P |
probably benign |
Het |
| Fam135a |
A |
G |
1: 24,069,475 (GRCm39) |
S465P |
probably damaging |
Het |
| Gm14412 |
A |
T |
2: 177,006,478 (GRCm39) |
C472* |
probably null |
Het |
| Gm7104 |
T |
C |
12: 88,252,812 (GRCm39) |
|
noncoding transcript |
Het |
| Got2 |
A |
G |
8: 96,614,858 (GRCm39) |
S26P |
probably benign |
Het |
| H2-M11 |
A |
G |
17: 36,860,123 (GRCm39) |
I329M |
probably damaging |
Het |
| Hmcn2 |
T |
A |
2: 31,272,406 (GRCm39) |
D1295E |
possibly damaging |
Het |
| Hoxd12 |
G |
T |
2: 74,505,771 (GRCm39) |
R114L |
probably damaging |
Het |
| Ilkap |
A |
C |
1: 91,314,972 (GRCm39) |
D124E |
probably damaging |
Het |
| Maco1 |
A |
G |
4: 134,531,792 (GRCm39) |
Y626H |
probably damaging |
Het |
| Med6 |
T |
C |
12: 81,628,625 (GRCm39) |
Y88C |
probably damaging |
Het |
| Mep1a |
A |
T |
17: 43,785,932 (GRCm39) |
L719* |
probably null |
Het |
| Mmp23 |
T |
C |
4: 155,736,480 (GRCm39) |
Y187C |
probably damaging |
Het |
| Myo1g |
A |
G |
11: 6,470,760 (GRCm39) |
M32T |
possibly damaging |
Het |
| Ncstn |
T |
C |
1: 171,895,061 (GRCm39) |
E614G |
probably benign |
Het |
| Nr2c2 |
C |
T |
6: 92,140,119 (GRCm39) |
R464W |
probably damaging |
Het |
| Or4f15 |
G |
A |
2: 111,813,642 (GRCm39) |
T259M |
possibly damaging |
Het |
| Otub2 |
T |
A |
12: 103,359,085 (GRCm39) |
L58* |
probably null |
Het |
| Pcdhga12 |
G |
A |
18: 37,900,682 (GRCm39) |
V505I |
probably benign |
Het |
| Pcdhga9 |
T |
A |
18: 37,870,897 (GRCm39) |
V242D |
probably damaging |
Het |
| Pex1 |
C |
T |
5: 3,676,084 (GRCm39) |
L891F |
probably damaging |
Het |
| Pgm2 |
C |
T |
5: 64,269,404 (GRCm39) |
T497I |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,235,840 (GRCm39) |
F171L |
probably damaging |
Het |
| Pilrb1 |
T |
G |
5: 137,855,654 (GRCm39) |
K79T |
probably benign |
Het |
| Pin1 |
C |
T |
9: 20,566,660 (GRCm39) |
R21W |
probably damaging |
Het |
| Prxl2c |
T |
C |
13: 64,456,912 (GRCm39) |
I104V |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,522,253 (GRCm39) |
|
probably benign |
Het |
| Rad17 |
G |
A |
13: 100,759,371 (GRCm39) |
A552V |
possibly damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,851,925 (GRCm39) |
T249A |
probably benign |
Het |
| Rtkn |
A |
T |
6: 83,112,957 (GRCm39) |
I10F |
probably benign |
Het |
| Scube2 |
T |
A |
7: 109,456,797 (GRCm39) |
I103F |
possibly damaging |
Het |
| Sec23b |
A |
G |
2: 144,423,893 (GRCm39) |
H514R |
probably benign |
Het |
| Serbp1 |
T |
A |
6: 67,249,204 (GRCm39) |
D223E |
probably benign |
Het |
| Slc14a1 |
C |
A |
18: 78,154,607 (GRCm39) |
V260L |
probably benign |
Het |
| Slc22a23 |
A |
G |
13: 34,367,109 (GRCm39) |
I633T |
probably damaging |
Het |
| Stk19 |
A |
T |
17: 35,043,723 (GRCm39) |
|
probably benign |
Het |
| Svs5 |
T |
C |
2: 164,079,047 (GRCm39) |
M287V |
probably benign |
Het |
| Syne3 |
T |
A |
12: 104,924,325 (GRCm39) |
Q358L |
probably damaging |
Het |
| Synj1 |
A |
G |
16: 90,806,984 (GRCm39) |
F58L |
possibly damaging |
Het |
| Tg |
T |
C |
15: 66,545,872 (GRCm39) |
V198A |
probably damaging |
Het |
| Tle4 |
A |
T |
19: 14,574,752 (GRCm39) |
Y9N |
probably damaging |
Het |
| Tmx3 |
G |
A |
18: 90,542,459 (GRCm39) |
A186T |
possibly damaging |
Het |
| Traf3 |
G |
A |
12: 111,221,679 (GRCm39) |
S280N |
possibly damaging |
Het |
| Trmt13 |
A |
G |
3: 116,375,167 (GRCm39) |
F447S |
probably damaging |
Het |
| Trp53bp1 |
T |
A |
2: 121,059,107 (GRCm39) |
H918L |
probably damaging |
Het |
| Ush2a |
T |
G |
1: 188,460,701 (GRCm39) |
V2654G |
probably benign |
Het |
| Vinac1 |
A |
G |
2: 128,881,521 (GRCm39) |
L135P |
probably damaging |
Het |
| Vmn2r25 |
A |
G |
6: 123,817,057 (GRCm39) |
Y175H |
probably damaging |
Het |
|
| Other mutations in Zfp335 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00323:Zfp335
|
APN |
2 |
164,734,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00921:Zfp335
|
APN |
2 |
164,736,696 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL00980:Zfp335
|
APN |
2 |
164,744,594 (GRCm39) |
nonsense |
probably null |
|
|
IGL01145:Zfp335
|
APN |
2 |
164,749,422 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01568:Zfp335
|
APN |
2 |
164,736,708 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01612:Zfp335
|
APN |
2 |
164,752,540 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02138:Zfp335
|
APN |
2 |
164,735,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02675:Zfp335
|
APN |
2 |
164,752,609 (GRCm39) |
missense |
probably benign |
|
|
IGL03206:Zfp335
|
APN |
2 |
164,734,601 (GRCm39) |
splice site |
probably benign |
|
|
IGL03269:Zfp335
|
APN |
2 |
164,742,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03306:Zfp335
|
APN |
2 |
164,737,904 (GRCm39) |
splice site |
probably benign |
|
|
FR4342:Zfp335
|
UTSW |
2 |
164,749,397 (GRCm39) |
small insertion |
probably benign |
|
|
FR4342:Zfp335
|
UTSW |
2 |
164,749,385 (GRCm39) |
small insertion |
probably benign |
|
|
FR4449:Zfp335
|
UTSW |
2 |
164,749,403 (GRCm39) |
small insertion |
probably benign |
|
|
FR4449:Zfp335
|
UTSW |
2 |
164,749,397 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Zfp335
|
UTSW |
2 |
164,749,392 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Zfp335
|
UTSW |
2 |
164,749,404 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Zfp335
|
UTSW |
2 |
164,749,395 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Zfp335
|
UTSW |
2 |
164,749,394 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Zfp335
|
UTSW |
2 |
164,749,398 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Zfp335
|
UTSW |
2 |
164,749,394 (GRCm39) |
small insertion |
probably benign |
|
|
PIT4403001:Zfp335
|
UTSW |
2 |
164,735,636 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0005:Zfp335
|
UTSW |
2 |
164,751,222 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0101:Zfp335
|
UTSW |
2 |
164,741,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0196:Zfp335
|
UTSW |
2 |
164,738,065 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0211:Zfp335
|
UTSW |
2 |
164,749,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Zfp335
|
UTSW |
2 |
164,749,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0533:Zfp335
|
UTSW |
2 |
164,749,842 (GRCm39) |
nonsense |
probably null |
|
|
R0865:Zfp335
|
UTSW |
2 |
164,741,415 (GRCm39) |
splice site |
probably null |
|
|
R1023:Zfp335
|
UTSW |
2 |
164,734,505 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1029:Zfp335
|
UTSW |
2 |
164,734,598 (GRCm39) |
splice site |
probably benign |
|
|
R1052:Zfp335
|
UTSW |
2 |
164,749,388 (GRCm39) |
small deletion |
probably benign |
|
|
R1106:Zfp335
|
UTSW |
2 |
164,749,471 (GRCm39) |
small deletion |
probably benign |
|
|
R1146:Zfp335
|
UTSW |
2 |
164,738,043 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1146:Zfp335
|
UTSW |
2 |
164,738,043 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1274:Zfp335
|
UTSW |
2 |
164,749,388 (GRCm39) |
small deletion |
probably benign |
|
|
R1386:Zfp335
|
UTSW |
2 |
164,740,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1433:Zfp335
|
UTSW |
2 |
164,741,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1813:Zfp335
|
UTSW |
2 |
164,734,525 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1959:Zfp335
|
UTSW |
2 |
164,736,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2372:Zfp335
|
UTSW |
2 |
164,736,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3847:Zfp335
|
UTSW |
2 |
164,742,026 (GRCm39) |
splice site |
probably null |
|
|
R3937:Zfp335
|
UTSW |
2 |
164,752,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3979:Zfp335
|
UTSW |
2 |
164,752,558 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4019:Zfp335
|
UTSW |
2 |
164,743,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4020:Zfp335
|
UTSW |
2 |
164,743,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4668:Zfp335
|
UTSW |
2 |
164,742,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5000:Zfp335
|
UTSW |
2 |
164,736,588 (GRCm39) |
missense |
probably benign |
|
|
R5038:Zfp335
|
UTSW |
2 |
164,752,564 (GRCm39) |
nonsense |
probably null |
|
|
R5245:Zfp335
|
UTSW |
2 |
164,736,678 (GRCm39) |
missense |
probably benign |
|
|
R5411:Zfp335
|
UTSW |
2 |
164,744,165 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5422:Zfp335
|
UTSW |
2 |
164,749,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5968:Zfp335
|
UTSW |
2 |
164,734,314 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6056:Zfp335
|
UTSW |
2 |
164,737,018 (GRCm39) |
splice site |
probably null |
|
|
R6551:Zfp335
|
UTSW |
2 |
164,751,285 (GRCm39) |
missense |
probably benign |
|
|
R6927:Zfp335
|
UTSW |
2 |
164,735,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6943:Zfp335
|
UTSW |
2 |
164,736,795 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6995:Zfp335
|
UTSW |
2 |
164,735,210 (GRCm39) |
nonsense |
probably null |
|
|
R7174:Zfp335
|
UTSW |
2 |
164,744,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7185:Zfp335
|
UTSW |
2 |
164,735,164 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7296:Zfp335
|
UTSW |
2 |
164,742,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7322:Zfp335
|
UTSW |
2 |
164,752,741 (GRCm39) |
start codon destroyed |
probably null |
0.90 |
|
R7504:Zfp335
|
UTSW |
2 |
164,751,338 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7560:Zfp335
|
UTSW |
2 |
164,737,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7637:Zfp335
|
UTSW |
2 |
164,734,459 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8064:Zfp335
|
UTSW |
2 |
164,749,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8208:Zfp335
|
UTSW |
2 |
164,735,536 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8228:Zfp335
|
UTSW |
2 |
164,746,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8271:Zfp335
|
UTSW |
2 |
164,739,973 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8688:Zfp335
|
UTSW |
2 |
164,734,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8803:Zfp335
|
UTSW |
2 |
164,751,290 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9266:Zfp335
|
UTSW |
2 |
164,738,007 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9352:Zfp335
|
UTSW |
2 |
164,742,242 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9487:Zfp335
|
UTSW |
2 |
164,735,395 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9752:Zfp335
|
UTSW |
2 |
164,749,347 (GRCm39) |
critical splice donor site |
probably null |
|
|
RF031:Zfp335
|
UTSW |
2 |
164,749,383 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAATTTCTCTCCCAAAGCCTGC -3'
(R):5'- TATGGACCGGATACTGCCAG -3'
Sequencing Primer
(F):5'- GCACCCAGCATGTCCTG -3'
(R):5'- ATACTGCCAGCCAGGAGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation