Incidental Mutation 'R1433:Zfp335'
| ID |
159292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp335
|
| Ensembl Gene |
ENSMUSG00000039834 |
| Gene Name |
zinc finger protein 335 |
| Synonyms |
1810045J01Rik |
| MMRRC Submission |
039488-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1433 (G1)
|
| Quality Score |
173 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
164733802-164753677 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 164741376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 685
(H685R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038298
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041361]
[ENSMUST00000139247]
[ENSMUST00000183830]
|
| AlphaFold |
A2A5K6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041361
AA Change: H685R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038298
Gene: ENSMUSG00000039834
AA Change: H685R
| 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: ENSMUST00000139247
|
| SMART Domains |
Protein: ENSMUSP00000138664
Gene: ENSMUSG00000039834
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
12 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
51 |
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 |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 87.9%
|
| Validation Efficiency |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp1 |
C |
T |
12: 30,945,934 (GRCm39) |
E140K |
possibly damaging |
Het |
| Acsm4 |
T |
A |
7: 119,293,042 (GRCm39) |
D57E |
probably damaging |
Het |
| Adamts9 |
A |
G |
6: 92,826,271 (GRCm39) |
|
probably null |
Het |
| Aen |
T |
A |
7: 78,557,060 (GRCm39) |
Y303N |
probably damaging |
Het |
| Alcam |
T |
C |
16: 52,116,115 (GRCm39) |
|
probably null |
Het |
| Apol7b |
A |
G |
15: 77,309,746 (GRCm39) |
L17P |
probably damaging |
Het |
| Cacna1c |
A |
T |
6: 118,629,754 (GRCm39) |
Y1058* |
probably null |
Het |
| Camk2d |
T |
C |
3: 126,601,873 (GRCm39) |
V354A |
probably benign |
Het |
| Carf |
T |
G |
1: 60,164,017 (GRCm39) |
M43R |
probably damaging |
Het |
| Casp8 |
T |
A |
1: 58,863,283 (GRCm39) |
F81Y |
probably damaging |
Het |
| Cd74 |
G |
A |
18: 60,937,064 (GRCm39) |
R20H |
probably benign |
Het |
| Cers5 |
A |
T |
15: 99,643,812 (GRCm39) |
Y16* |
probably null |
Het |
| Chuk |
A |
T |
19: 44,067,397 (GRCm39) |
M586K |
probably null |
Het |
| D130043K22Rik |
C |
A |
13: 25,055,324 (GRCm39) |
P496Q |
probably damaging |
Het |
| Dab2 |
A |
G |
15: 6,459,419 (GRCm39) |
R311G |
probably damaging |
Het |
| Depp1 |
A |
T |
6: 116,629,223 (GRCm39) |
S189C |
possibly damaging |
Het |
| Diaph1 |
A |
T |
18: 38,038,187 (GRCm39) |
I48N |
unknown |
Het |
| Dnajc13 |
T |
C |
9: 104,057,320 (GRCm39) |
D1560G |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,715,780 (GRCm39) |
S241P |
probably damaging |
Het |
| Efcab5 |
T |
C |
11: 76,996,204 (GRCm39) |
D1119G |
probably benign |
Het |
| Efr3a |
G |
T |
15: 65,740,906 (GRCm39) |
|
probably benign |
Het |
| Evc2 |
A |
G |
5: 37,550,427 (GRCm39) |
K814E |
probably damaging |
Het |
| Hic2 |
A |
G |
16: 17,076,686 (GRCm39) |
D505G |
probably benign |
Het |
| Ing1 |
T |
A |
8: 11,607,010 (GRCm39) |
V34D |
probably damaging |
Het |
| Inpp5k |
A |
G |
11: 75,528,317 (GRCm39) |
M172V |
probably benign |
Het |
| Itgae |
T |
C |
11: 73,006,418 (GRCm39) |
V362A |
probably damaging |
Het |
| Lama2 |
T |
A |
10: 27,063,750 (GRCm39) |
R1346S |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,882,943 (GRCm39) |
N450S |
probably damaging |
Het |
| Lrrn3 |
T |
A |
12: 41,502,583 (GRCm39) |
Y578F |
possibly damaging |
Het |
| Maml2 |
A |
T |
9: 13,617,797 (GRCm39) |
N381I |
probably damaging |
Het |
| Mettl15 |
T |
G |
2: 108,923,266 (GRCm39) |
E385D |
probably benign |
Het |
| Mthfr |
T |
A |
4: 148,139,900 (GRCm39) |
I623N |
possibly damaging |
Het |
| Muc4 |
A |
C |
16: 32,574,448 (GRCm39) |
N966T |
probably benign |
Het |
| Myoc |
A |
G |
1: 162,476,565 (GRCm39) |
Y423C |
probably damaging |
Het |
| Ncoa2 |
A |
T |
1: 13,218,602 (GRCm39) |
M1409K |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,187,039 (GRCm39) |
|
probably benign |
Het |
| Numb |
T |
C |
12: 83,844,033 (GRCm39) |
E395G |
probably damaging |
Het |
| Oas1g |
A |
G |
5: 121,020,012 (GRCm39) |
F198S |
probably damaging |
Het |
| Or2b28 |
T |
C |
13: 21,531,194 (GRCm39) |
V32A |
probably benign |
Het |
| Or5k17 |
A |
G |
16: 58,746,049 (GRCm39) |
V295A |
probably benign |
Het |
| Prdm13 |
T |
A |
4: 21,678,909 (GRCm39) |
Y527F |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,986,177 (GRCm39) |
L1106P |
probably damaging |
Het |
| Ptbp1 |
T |
A |
10: 79,699,107 (GRCm39) |
I555N |
probably damaging |
Het |
| Ptchd4 |
A |
T |
17: 42,814,606 (GRCm39) |
T836S |
possibly damaging |
Het |
| Rlbp1 |
T |
C |
7: 79,033,686 (GRCm39) |
D3G |
probably benign |
Het |
| Sdk2 |
T |
C |
11: 113,685,871 (GRCm39) |
E1883G |
probably damaging |
Het |
| Serpinc1 |
A |
T |
1: 160,820,974 (GRCm39) |
K140N |
probably damaging |
Het |
| Serpind1 |
A |
T |
16: 17,160,249 (GRCm39) |
Y382F |
probably damaging |
Het |
| Slc28a3 |
T |
C |
13: 58,710,920 (GRCm39) |
E534G |
probably damaging |
Het |
| Slco1a7 |
A |
G |
6: 141,711,429 (GRCm39) |
M94T |
probably benign |
Het |
| Ttyh2 |
T |
A |
11: 114,601,005 (GRCm39) |
I418N |
probably benign |
Het |
| Tubgcp4 |
C |
T |
2: 121,005,905 (GRCm39) |
Q98* |
probably null |
Het |
| Ugt2a2 |
A |
G |
5: 87,611,965 (GRCm39) |
L315P |
probably damaging |
Het |
| Vwa1 |
A |
T |
4: 155,857,358 (GRCm39) |
S147T |
probably damaging |
Het |
| Xylt1 |
T |
C |
7: 117,191,179 (GRCm39) |
V325A |
possibly 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 |
|
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 |
|
R3946:Zfp335
|
UTSW |
2 |
164,734,109 (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'- CTAGACAAGTGCTGGAAAGCTACCC -3'
(R):5'- AGGTGACCTTGAGAATGACCCCTG -3'
Sequencing Primer
(F):5'- TCTAACCAGGCTGGTGTCC -3'
(R):5'- ACAGCAGTGTTTGTCCAAGC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation