Incidental Mutation 'IGL02674:Prdm4'
ID |
303031 |
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 # |
IGL02674
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
85727828-85752958 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 85729263 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Methionine
at position 715
(L715M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151931
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001836]
[ENSMUST00000037646]
[ENSMUST00000219370]
[ENSMUST00000220032]
|
AlphaFold |
Q80V63 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001836
|
SMART Domains |
Protein: ENSMUSP00000001836 Gene: ENSMUSG00000001785
Domain | Start | End | E-Value | Type |
low complexity region
|
45 |
61 |
N/A |
INTRINSIC |
Blast:WD40
|
168 |
220 |
4e-27 |
BLAST |
WD40
|
244 |
284 |
4.51e-7 |
SMART |
WD40
|
287 |
327 |
3.37e-6 |
SMART |
WD40
|
331 |
370 |
4.42e1 |
SMART |
WD40
|
373 |
413 |
6.38e-7 |
SMART |
Blast:WD40
|
418 |
458 |
3e-23 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037646
AA Change: L708M
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000041942 Gene: ENSMUSG00000035529 AA Change: L708M
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: ENSMUST00000218743
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219370
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220032
AA Change: L715M
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago2 |
T |
C |
15: 72,983,643 (GRCm39) |
R689G |
probably damaging |
Het |
Agrn |
C |
T |
4: 156,259,018 (GRCm39) |
|
probably benign |
Het |
Akna |
A |
T |
4: 63,289,181 (GRCm39) |
C1247* |
probably null |
Het |
Appl1 |
T |
G |
14: 26,671,418 (GRCm39) |
T345P |
possibly damaging |
Het |
Chga |
A |
G |
12: 102,529,160 (GRCm39) |
D379G |
probably damaging |
Het |
Chrna6 |
C |
T |
8: 27,896,879 (GRCm39) |
A333T |
probably benign |
Het |
Col14a1 |
G |
A |
15: 55,282,178 (GRCm39) |
G813E |
unknown |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dnhd1 |
A |
G |
7: 105,370,688 (GRCm39) |
Q4656R |
probably benign |
Het |
Dock9 |
A |
C |
14: 121,833,023 (GRCm39) |
|
probably null |
Het |
Fat4 |
A |
G |
3: 39,037,486 (GRCm39) |
N3713D |
probably benign |
Het |
Fsd1 |
A |
T |
17: 56,303,483 (GRCm39) |
T452S |
probably benign |
Het |
G6pc2 |
A |
G |
2: 69,056,910 (GRCm39) |
|
probably null |
Het |
Gfus |
T |
C |
15: 75,798,238 (GRCm39) |
D178G |
probably damaging |
Het |
Itprid1 |
A |
G |
6: 55,874,913 (GRCm39) |
T288A |
probably benign |
Het |
Kcnh4 |
C |
A |
11: 100,637,720 (GRCm39) |
V646L |
possibly damaging |
Het |
Kcnk1 |
T |
C |
8: 126,751,753 (GRCm39) |
Y120H |
probably damaging |
Het |
L3mbtl3 |
C |
T |
10: 26,158,711 (GRCm39) |
E646K |
unknown |
Het |
Lrrc4c |
T |
C |
2: 97,460,120 (GRCm39) |
W249R |
probably damaging |
Het |
Meox1 |
A |
T |
11: 101,784,767 (GRCm39) |
L22H |
probably damaging |
Het |
Mrgpra4 |
C |
T |
7: 47,630,690 (GRCm39) |
V304M |
probably benign |
Het |
Ncaph |
T |
C |
2: 126,955,496 (GRCm39) |
Y554C |
probably damaging |
Het |
Nfx1 |
T |
C |
4: 40,999,717 (GRCm39) |
|
probably null |
Het |
Or10p1 |
A |
C |
10: 129,443,939 (GRCm39) |
M137R |
possibly damaging |
Het |
Or8g37 |
A |
G |
9: 39,730,934 (GRCm39) |
|
probably null |
Het |
Otol1 |
C |
T |
3: 69,926,077 (GRCm39) |
P84L |
probably benign |
Het |
Pcdhb11 |
T |
C |
18: 37,556,667 (GRCm39) |
S666P |
probably damaging |
Het |
Pou2f3 |
T |
C |
9: 43,050,628 (GRCm39) |
K244R |
probably damaging |
Het |
Ppp6r1 |
T |
C |
7: 4,649,812 (GRCm39) |
N51S |
probably damaging |
Het |
Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
Rsc1a1 |
G |
T |
4: 141,411,406 (GRCm39) |
P502Q |
probably damaging |
Het |
Senp1 |
T |
C |
15: 97,954,840 (GRCm39) |
E448G |
probably damaging |
Het |
Shd |
A |
G |
17: 56,278,554 (GRCm39) |
D39G |
possibly damaging |
Het |
Skint5 |
A |
C |
4: 113,487,582 (GRCm39) |
|
probably benign |
Het |
Tmprss15 |
T |
G |
16: 78,798,682 (GRCm39) |
T667P |
possibly damaging |
Het |
Vps13b |
A |
T |
15: 35,640,104 (GRCm39) |
M1325L |
probably benign |
Het |
Zfp263 |
T |
C |
16: 3,564,629 (GRCm39) |
|
probably benign |
Het |
Zfp786 |
A |
G |
6: 47,797,427 (GRCm39) |
F504L |
probably benign |
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 |
IGL02514:Prdm4
|
APN |
10 |
85,743,781 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02576:Prdm4
|
APN |
10 |
85,736,801 (GRCm39) |
missense |
possibly damaging |
0.86 |
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 |