Incidental Mutation 'IGL02514:Prdm4'
ID |
296668 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Prdm4
|
Ensembl Gene |
ENSMUSG00000035529 |
Gene Name |
PR domain containing 4 |
Synonyms |
SC-1, SC1, 1700031E19Rik, 2810470D21Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02514
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
85727828-85752958 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 85743781 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 158
(I158N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041942
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037646]
[ENSMUST00000218969]
[ENSMUST00000219370]
[ENSMUST00000220032]
|
AlphaFold |
Q80V63 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037646
AA Change: I158N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000041942 Gene: ENSMUSG00000035529 AA Change: I158N
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
28 |
N/A |
INTRINSIC |
low complexity region
|
33 |
44 |
N/A |
INTRINSIC |
low complexity region
|
51 |
69 |
N/A |
INTRINSIC |
low complexity region
|
339 |
353 |
N/A |
INTRINSIC |
PDB:3DB5|B
|
386 |
543 |
2e-98 |
PDB |
Blast:SET
|
408 |
538 |
5e-82 |
BLAST |
ZnF_C2H2
|
548 |
569 |
7.77e1 |
SMART |
low complexity region
|
575 |
588 |
N/A |
INTRINSIC |
ZnF_C2H2
|
593 |
615 |
3.78e-1 |
SMART |
ZnF_C2H2
|
621 |
643 |
2.27e-4 |
SMART |
ZnF_C2H2
|
649 |
671 |
8.02e-5 |
SMART |
ZnF_C2H2
|
677 |
699 |
3.63e-3 |
SMART |
ZnF_C2H2
|
705 |
727 |
3.11e-2 |
SMART |
ZnF_C2H2
|
733 |
753 |
1.81e1 |
SMART |
low complexity region
|
759 |
780 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218289
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218969
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219112
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219370
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220032
AA Change: I158N
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the PR/SET family of zinc finger proteins. This protein has been shown to bind DNA in a sequence-specific manner and has been implicated in neural stem cell proliferation and differentiation. Pseudogenes have been identified on chromosomes 14 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] PHENOTYPE: Mice homozygous for alleles lacking the zinc finger domain or PR/SET domain exhibit no abnormal phenotype. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310009B15Rik |
A |
T |
1: 138,779,909 (GRCm39) |
C114* |
probably null |
Het |
4933421I07Rik |
A |
G |
7: 42,096,981 (GRCm39) |
M110T |
probably damaging |
Het |
Amer1 |
A |
G |
X: 94,470,117 (GRCm39) |
V667A |
possibly damaging |
Het |
Casr |
C |
T |
16: 36,320,687 (GRCm39) |
G487E |
probably damaging |
Het |
Catsperd |
G |
A |
17: 56,968,271 (GRCm39) |
G552D |
probably damaging |
Het |
Ceacam3 |
A |
G |
7: 16,896,906 (GRCm39) |
D624G |
possibly damaging |
Het |
Celsr2 |
A |
G |
3: 108,304,826 (GRCm39) |
V2208A |
probably benign |
Het |
Cibar1 |
T |
G |
4: 12,164,080 (GRCm39) |
|
probably benign |
Het |
Clca4a |
G |
A |
3: 144,660,832 (GRCm39) |
S664F |
probably damaging |
Het |
Ddx23 |
A |
T |
15: 98,556,199 (GRCm39) |
S40T |
unknown |
Het |
Dhodh |
G |
A |
8: 110,332,896 (GRCm39) |
R58* |
probably null |
Het |
Dhx36 |
A |
G |
3: 62,408,319 (GRCm39) |
L173S |
possibly damaging |
Het |
Dnaaf5 |
C |
T |
5: 139,159,872 (GRCm39) |
|
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,565,470 (GRCm39) |
D2546G |
probably damaging |
Het |
Eef2 |
T |
G |
10: 81,015,427 (GRCm39) |
I316S |
probably benign |
Het |
Efcab6 |
T |
C |
15: 83,917,143 (GRCm39) |
D139G |
possibly damaging |
Het |
Efcab6 |
A |
T |
15: 83,755,512 (GRCm39) |
|
probably benign |
Het |
Eif4g3 |
T |
A |
4: 137,853,505 (GRCm39) |
I357N |
possibly damaging |
Het |
Elovl2 |
G |
A |
13: 41,348,247 (GRCm39) |
T44M |
probably benign |
Het |
Fbln1 |
T |
A |
15: 85,128,463 (GRCm39) |
C553* |
probably null |
Het |
Fip1l1 |
T |
C |
5: 74,731,813 (GRCm39) |
V310A |
probably damaging |
Het |
Gast |
A |
G |
11: 100,227,718 (GRCm39) |
D100G |
probably benign |
Het |
Gk |
G |
A |
X: 84,756,970 (GRCm39) |
|
probably benign |
Het |
Gm1330 |
G |
A |
2: 148,841,305 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
C |
A |
4: 137,296,887 (GRCm39) |
T4355K |
probably benign |
Het |
Ipo7 |
T |
C |
7: 109,648,035 (GRCm39) |
V639A |
possibly damaging |
Het |
Lrrc7 |
T |
C |
3: 157,865,929 (GRCm39) |
M1271V |
probably damaging |
Het |
Msantd1 |
T |
A |
5: 35,078,887 (GRCm39) |
S141T |
probably damaging |
Het |
Myo9b |
T |
C |
8: 71,743,650 (GRCm39) |
I237T |
probably damaging |
Het |
Or10ag59 |
G |
A |
2: 87,405,537 (GRCm39) |
M36I |
probably benign |
Het |
Or13a21 |
A |
T |
7: 139,999,507 (GRCm39) |
Y60N |
probably damaging |
Het |
Or2w3 |
T |
C |
11: 58,556,469 (GRCm39) |
F28S |
probably damaging |
Het |
Or4k40 |
A |
C |
2: 111,251,117 (GRCm39) |
Y60D |
probably damaging |
Het |
Pan2 |
A |
T |
10: 128,146,610 (GRCm39) |
M416L |
possibly damaging |
Het |
Pank4 |
T |
C |
4: 155,054,922 (GRCm39) |
F209L |
probably damaging |
Het |
Pcdhb13 |
A |
T |
18: 37,576,044 (GRCm39) |
I141L |
possibly damaging |
Het |
Pik3r2 |
A |
G |
8: 71,223,236 (GRCm39) |
Y422H |
probably benign |
Het |
Pramel14 |
T |
C |
4: 143,719,772 (GRCm39) |
K198E |
probably benign |
Het |
Prl |
T |
G |
13: 27,243,377 (GRCm39) |
L14R |
probably damaging |
Het |
Rabl6 |
C |
A |
2: 25,498,188 (GRCm39) |
A23S |
probably damaging |
Het |
Rbm15b |
T |
A |
9: 106,762,176 (GRCm39) |
H664L |
probably damaging |
Het |
Rhobtb1 |
T |
A |
10: 69,125,471 (GRCm39) |
H618Q |
probably benign |
Het |
Slc15a1 |
T |
C |
14: 121,724,452 (GRCm39) |
K140R |
probably damaging |
Het |
Slc6a17 |
A |
G |
3: 107,402,993 (GRCm39) |
S145P |
possibly damaging |
Het |
Snx31 |
T |
C |
15: 36,525,728 (GRCm39) |
T324A |
probably damaging |
Het |
Spatc1l |
T |
C |
10: 76,405,490 (GRCm39) |
|
probably benign |
Het |
Taar7b |
A |
G |
10: 23,876,882 (GRCm39) |
N349S |
probably benign |
Het |
Tbx19 |
T |
C |
1: 164,981,273 (GRCm39) |
I74V |
probably benign |
Het |
Tmtc2 |
G |
A |
10: 105,025,960 (GRCm39) |
T836I |
possibly damaging |
Het |
Vmn2r72 |
C |
A |
7: 85,387,907 (GRCm39) |
M552I |
possibly damaging |
Het |
Vsig10l |
A |
G |
7: 43,113,338 (GRCm39) |
T199A |
probably benign |
Het |
Washc4 |
A |
T |
10: 83,405,947 (GRCm39) |
E481V |
probably damaging |
Het |
Zc3h15 |
T |
A |
2: 83,483,725 (GRCm39) |
N33K |
probably damaging |
Het |
|
Other mutations in Prdm4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01864:Prdm4
|
APN |
10 |
85,729,100 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02576:Prdm4
|
APN |
10 |
85,736,801 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02674:Prdm4
|
APN |
10 |
85,729,263 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03002:Prdm4
|
APN |
10 |
85,729,016 (GRCm39) |
missense |
probably benign |
0.08 |
IGL03153:Prdm4
|
APN |
10 |
85,743,860 (GRCm39) |
missense |
probably benign |
|
IGL03278:Prdm4
|
APN |
10 |
85,743,622 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03338:Prdm4
|
APN |
10 |
85,743,685 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0020:Prdm4
|
UTSW |
10 |
85,743,487 (GRCm39) |
missense |
probably benign |
|
R0133:Prdm4
|
UTSW |
10 |
85,746,085 (GRCm39) |
critical splice donor site |
probably null |
|
R0366:Prdm4
|
UTSW |
10 |
85,743,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R0633:Prdm4
|
UTSW |
10 |
85,743,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R1132:Prdm4
|
UTSW |
10 |
85,735,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R1460:Prdm4
|
UTSW |
10 |
85,743,686 (GRCm39) |
missense |
probably benign |
0.28 |
R1477:Prdm4
|
UTSW |
10 |
85,740,129 (GRCm39) |
missense |
probably benign |
0.00 |
R1680:Prdm4
|
UTSW |
10 |
85,735,087 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1772:Prdm4
|
UTSW |
10 |
85,729,256 (GRCm39) |
missense |
probably damaging |
0.99 |
R1983:Prdm4
|
UTSW |
10 |
85,743,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R2136:Prdm4
|
UTSW |
10 |
85,729,215 (GRCm39) |
nonsense |
probably null |
|
R3426:Prdm4
|
UTSW |
10 |
85,746,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R3723:Prdm4
|
UTSW |
10 |
85,735,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R4490:Prdm4
|
UTSW |
10 |
85,736,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R4750:Prdm4
|
UTSW |
10 |
85,735,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R5561:Prdm4
|
UTSW |
10 |
85,728,987 (GRCm39) |
makesense |
probably null |
|
R5601:Prdm4
|
UTSW |
10 |
85,728,987 (GRCm39) |
makesense |
probably null |
|
R5602:Prdm4
|
UTSW |
10 |
85,728,987 (GRCm39) |
makesense |
probably null |
|
R5604:Prdm4
|
UTSW |
10 |
85,728,987 (GRCm39) |
makesense |
probably null |
|
R5972:Prdm4
|
UTSW |
10 |
85,743,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R6272:Prdm4
|
UTSW |
10 |
85,743,694 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6300:Prdm4
|
UTSW |
10 |
85,746,085 (GRCm39) |
critical splice donor site |
probably null |
|
R6457:Prdm4
|
UTSW |
10 |
85,743,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R6605:Prdm4
|
UTSW |
10 |
85,740,002 (GRCm39) |
missense |
probably benign |
0.00 |
R6642:Prdm4
|
UTSW |
10 |
85,743,682 (GRCm39) |
missense |
probably benign |
0.00 |
R7663:Prdm4
|
UTSW |
10 |
85,735,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R9064:Prdm4
|
UTSW |
10 |
85,737,678 (GRCm39) |
missense |
probably damaging |
0.98 |
R9071:Prdm4
|
UTSW |
10 |
85,729,076 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-04-16 |