Incidental Mutation 'IGL03153:Prdm4'
| ID |
411169 |
| 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 # |
IGL03153
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
85727828-85752958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85743860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 132
(T132A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151931
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037646]
[ENSMUST00000218969]
[ENSMUST00000219370]
[ENSMUST00000220032]
|
| AlphaFold |
Q80V63 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037646
AA Change: T132A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041942
Gene: ENSMUSG00000035529
AA Change: T132A
| 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
AA Change: T132A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219112
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219370
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220032
AA Change: T132A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
A |
G |
4: 62,465,563 (GRCm39) |
E419G |
possibly damaging |
Het |
| Abcg3 |
A |
G |
5: 105,122,631 (GRCm39) |
|
probably benign |
Het |
| Adam17 |
T |
C |
12: 21,395,698 (GRCm39) |
D256G |
probably damaging |
Het |
| Adgrb3 |
G |
A |
1: 25,570,978 (GRCm39) |
R500* |
probably null |
Het |
| Aldh3a2 |
A |
G |
11: 61,149,665 (GRCm39) |
Y234H |
probably damaging |
Het |
| Alpk3 |
A |
G |
7: 80,743,143 (GRCm39) |
T987A |
probably benign |
Het |
| Amtn |
A |
G |
5: 88,532,828 (GRCm39) |
K148E |
possibly damaging |
Het |
| Asap1 |
G |
A |
15: 64,032,123 (GRCm39) |
T237M |
probably damaging |
Het |
| Ccdc124 |
A |
T |
8: 71,321,573 (GRCm39) |
|
probably null |
Het |
| Cdon |
T |
C |
9: 35,389,255 (GRCm39) |
Y787H |
probably damaging |
Het |
| Cimip4 |
T |
C |
15: 78,269,516 (GRCm39) |
D188G |
probably damaging |
Het |
| Coro7 |
A |
G |
16: 4,453,246 (GRCm39) |
|
probably null |
Het |
| Dram2 |
T |
A |
3: 106,462,490 (GRCm39) |
|
probably benign |
Het |
| Drd5 |
T |
C |
5: 38,477,124 (GRCm39) |
V39A |
probably benign |
Het |
| Ern1 |
A |
G |
11: 106,300,924 (GRCm39) |
L490P |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,483,160 (GRCm39) |
T3083A |
possibly damaging |
Het |
| Irgm1 |
A |
G |
11: 48,757,094 (GRCm39) |
I239T |
probably damaging |
Het |
| Klhl10 |
A |
T |
11: 100,347,758 (GRCm39) |
T605S |
probably benign |
Het |
| Lcor |
T |
A |
19: 41,546,795 (GRCm39) |
S126R |
probably damaging |
Het |
| Lgi4 |
G |
T |
7: 30,759,983 (GRCm39) |
V60F |
probably damaging |
Het |
| Lin37 |
G |
A |
7: 30,256,585 (GRCm39) |
R84W |
probably damaging |
Het |
| Lmf1 |
A |
G |
17: 25,804,624 (GRCm39) |
S97G |
possibly damaging |
Het |
| Oasl2 |
A |
G |
5: 115,039,393 (GRCm39) |
T194A |
probably benign |
Het |
| Or5ac17 |
A |
G |
16: 59,036,566 (GRCm39) |
S137P |
probably benign |
Het |
| Pnpo |
A |
T |
11: 96,834,661 (GRCm39) |
F12I |
probably damaging |
Het |
| Ptbp2 |
T |
C |
3: 119,545,593 (GRCm39) |
T118A |
probably benign |
Het |
| Ptf1a |
T |
A |
2: 19,451,456 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,682,874 (GRCm39) |
F331I |
probably damaging |
Het |
| Rfx6 |
C |
A |
10: 51,599,217 (GRCm39) |
S524* |
probably null |
Het |
| Scube3 |
A |
G |
17: 28,386,032 (GRCm39) |
S758G |
possibly damaging |
Het |
| Slc44a2 |
T |
C |
9: 21,254,496 (GRCm39) |
I257T |
probably benign |
Het |
| Spon1 |
A |
T |
7: 113,629,579 (GRCm39) |
I408F |
probably damaging |
Het |
| Srpk1 |
C |
A |
17: 28,811,240 (GRCm39) |
D541Y |
possibly damaging |
Het |
| Tenm4 |
A |
T |
7: 96,522,969 (GRCm39) |
I1467F |
probably damaging |
Het |
| Uggt1 |
A |
C |
1: 36,241,899 (GRCm39) |
V345G |
possibly damaging |
Het |
| Vmn1r23 |
A |
T |
6: 57,902,917 (GRCm39) |
I287K |
probably damaging |
Het |
| Whamm |
A |
G |
7: 81,239,280 (GRCm39) |
|
probably benign |
Het |
| Zeb1 |
A |
G |
18: 5,770,511 (GRCm39) |
D888G |
probably damaging |
Het |
| Zfp263 |
A |
G |
16: 3,564,744 (GRCm39) |
N253S |
possibly damaging |
Het |
| Zfp446 |
C |
A |
7: 12,711,834 (GRCm39) |
A19E |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation