Incidental Mutation 'R6642:Prdm4'
| ID |
525861 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prdm4
|
| Ensembl Gene |
ENSMUSG00000035529 |
| Gene Name |
PR domain containing 4 |
| Synonyms |
SC-1, SC1, 1700031E19Rik, 2810470D21Rik |
| MMRRC Submission |
044763-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6642 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
85727828-85752958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85743682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 191
(E191G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041942
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037646]
[ENSMUST00000218969]
[ENSMUST00000219370]
[ENSMUST00000220032]
|
| AlphaFold |
Q80V63 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037646
AA Change: E191G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000041942
Gene: ENSMUSG00000035529
AA Change: E191G
| 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 benign
Transcript: ENSMUST00000220032
AA Change: E191G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (35/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
T |
A |
2: 152,282,790 (GRCm39) |
V215D |
probably damaging |
Het |
| Ablim1 |
A |
G |
19: 57,119,284 (GRCm39) |
S267P |
probably benign |
Het |
| Adcy2 |
C |
T |
13: 68,768,945 (GRCm39) |
C1061Y |
probably damaging |
Het |
| Aip |
C |
A |
19: 4,165,149 (GRCm39) |
C240F |
probably damaging |
Het |
| Aldh1a2 |
A |
T |
9: 71,160,268 (GRCm39) |
D98V |
probably damaging |
Het |
| Arhgef40 |
T |
C |
14: 52,228,419 (GRCm39) |
|
probably benign |
Het |
| Cplx2 |
G |
T |
13: 54,526,736 (GRCm39) |
R48L |
probably damaging |
Het |
| Ctrl |
C |
T |
8: 106,659,451 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,353,006 (GRCm39) |
T2720A |
probably benign |
Het |
| Fzd1 |
A |
G |
5: 4,805,696 (GRCm39) |
Y629H |
probably damaging |
Het |
| Gins1 |
T |
C |
2: 150,770,038 (GRCm39) |
|
probably null |
Het |
| Gpr149 |
C |
T |
3: 62,437,995 (GRCm39) |
A721T |
probably damaging |
Het |
| Helb |
A |
T |
10: 119,920,835 (GRCm39) |
M1036K |
probably benign |
Het |
| Il16 |
A |
G |
7: 83,337,335 (GRCm39) |
F127L |
probably benign |
Het |
| Kctd20 |
A |
T |
17: 29,180,640 (GRCm39) |
H138L |
probably damaging |
Het |
| Kctd9 |
T |
A |
14: 67,962,122 (GRCm39) |
L55* |
probably null |
Het |
| Marf1 |
C |
T |
16: 13,950,611 (GRCm39) |
R925H |
probably benign |
Het |
| Mbip |
A |
T |
12: 56,389,191 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nod1 |
T |
G |
6: 54,925,014 (GRCm39) |
D99A |
probably damaging |
Het |
| Olfm4 |
A |
G |
14: 80,259,107 (GRCm39) |
K419E |
probably damaging |
Het |
| Or6c214 |
A |
T |
10: 129,591,232 (GRCm39) |
L29Q |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,521,845 (GRCm39) |
D137G |
probably benign |
Het |
| Rassf10 |
A |
T |
7: 112,554,784 (GRCm39) |
T462S |
probably benign |
Het |
| Rundc3b |
A |
T |
5: 8,629,071 (GRCm39) |
I110N |
probably damaging |
Het |
| Sgsm3 |
C |
T |
15: 80,893,901 (GRCm39) |
R479C |
probably damaging |
Het |
| Tmc7 |
A |
T |
7: 118,144,834 (GRCm39) |
Y575* |
probably null |
Het |
| Trim33 |
T |
C |
3: 103,244,830 (GRCm39) |
L310S |
probably damaging |
Het |
| Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,565,740 (GRCm39) |
E28204G |
probably damaging |
Het |
| Vmn1r233 |
A |
T |
17: 21,214,002 (GRCm39) |
L316Q |
probably damaging |
Het |
| Vmn2r110 |
A |
T |
17: 20,803,779 (GRCm39) |
N265K |
possibly damaging |
Het |
| Xylb |
A |
G |
9: 119,196,559 (GRCm39) |
H114R |
probably damaging |
Het |
| Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
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 |
|
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGACCACAGGAAGCTCCAG -3'
(R):5'- TTTAGCTGACAGACCACCTCC -3'
Sequencing Primer
(F):5'- CCCGTGAATGGGTATCACAC -3'
(R):5'- CACCCCAACTCTATAAATGTTGATGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation