Incidental Mutation 'R9064:Prdm4'
| ID |
689156 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prdm4
|
| Ensembl Gene |
ENSMUSG00000035529 |
| Gene Name |
PR domain containing 4 |
| Synonyms |
SC-1, SC1, 1700031E19Rik, 2810470D21Rik |
| MMRRC Submission |
068889-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9064 (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 85737678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 496
(N496S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041942
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037646]
[ENSMUST00000219370]
[ENSMUST00000220032]
|
| AlphaFold |
Q80V63 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037646
AA Change: N496S
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000041942
Gene: ENSMUSG00000035529
AA Change: N496S
| 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 |
probably benign
Transcript: ENSMUST00000219370
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220032
AA Change: N503S
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.1195 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (52/52) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss1 |
T |
C |
2: 150,463,510 (GRCm39) |
E598G |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,570,965 (GRCm39) |
E504G |
possibly damaging |
Het |
| Ank3 |
T |
C |
10: 69,822,185 (GRCm39) |
S285P |
|
Het |
| Ankrd28 |
G |
A |
14: 31,454,005 (GRCm39) |
H410Y |
probably damaging |
Het |
| Armh1 |
C |
A |
4: 117,094,855 (GRCm39) |
V62L |
probably benign |
Het |
| Atp8b1 |
A |
G |
18: 64,697,491 (GRCm39) |
I451T |
probably benign |
Het |
| C2cd3 |
A |
G |
7: 100,059,608 (GRCm39) |
D245G |
|
Het |
| Calr3 |
T |
C |
8: 73,188,674 (GRCm39) |
K151R |
possibly damaging |
Het |
| Cenpq |
G |
A |
17: 41,243,731 (GRCm39) |
T39I |
probably benign |
Het |
| Cep126 |
T |
C |
9: 8,103,341 (GRCm39) |
D223G |
possibly damaging |
Het |
| Chd2 |
A |
T |
7: 73,143,279 (GRCm39) |
I538K |
possibly damaging |
Het |
| Cyp3a41b |
C |
T |
5: 145,514,910 (GRCm39) |
R105Q |
probably damaging |
Het |
| Dnah6 |
C |
A |
6: 73,126,156 (GRCm39) |
R1327L |
probably benign |
Het |
| Exd2 |
T |
C |
12: 80,531,148 (GRCm39) |
|
probably null |
Het |
| Fam118a |
T |
C |
15: 84,930,039 (GRCm39) |
V89A |
probably damaging |
Het |
| Fbxo40 |
A |
T |
16: 36,791,002 (GRCm39) |
I36K |
probably damaging |
Het |
| Fntb |
A |
G |
12: 76,934,640 (GRCm39) |
N170S |
probably benign |
Het |
| Frzb |
A |
G |
2: 80,277,052 (GRCm39) |
S45P |
probably benign |
Het |
| Gm4841 |
T |
C |
18: 60,403,961 (GRCm39) |
E44G |
probably benign |
Het |
| Hecw2 |
C |
A |
1: 53,866,045 (GRCm39) |
A1539S |
probably benign |
Het |
| Jarid2 |
G |
T |
13: 44,994,326 (GRCm39) |
V13L |
|
Het |
| Kcnh5 |
A |
T |
12: 75,177,727 (GRCm39) |
C126* |
probably null |
Het |
| Kdm5a |
TAGAAGAAG |
TAGAAG |
6: 120,403,869 (GRCm39) |
|
probably benign |
Het |
| Kremen2 |
A |
G |
17: 23,961,736 (GRCm39) |
L257P |
possibly damaging |
Het |
| Mcat |
A |
C |
15: 83,432,134 (GRCm39) |
F245V |
probably damaging |
Het |
| Mdm2 |
T |
C |
10: 117,538,235 (GRCm39) |
I54M |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,754,397 (GRCm38) |
T1424A |
possibly damaging |
Het |
| Mylk3 |
T |
C |
8: 86,081,940 (GRCm39) |
T416A |
probably benign |
Het |
| Nol4 |
T |
A |
18: 22,903,850 (GRCm39) |
D156V |
|
Het |
| Nxpe4 |
T |
C |
9: 48,309,964 (GRCm39) |
V409A |
probably benign |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Obscn |
G |
T |
11: 58,899,935 (GRCm39) |
T966K |
|
Het |
| Or10j3b |
C |
T |
1: 173,044,060 (GRCm39) |
L281F |
possibly damaging |
Het |
| Or10w1 |
G |
A |
19: 13,632,719 (GRCm39) |
V309M |
possibly damaging |
Het |
| Or14c42-ps1 |
A |
G |
7: 86,211,371 (GRCm39) |
T144A |
unknown |
Het |
| Phip |
C |
T |
9: 82,753,540 (GRCm39) |
V1735I |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,426,038 (GRCm39) |
T3200S |
possibly damaging |
Het |
| Proser1 |
C |
T |
3: 53,384,927 (GRCm39) |
L270F |
probably damaging |
Het |
| Psmd11 |
T |
C |
11: 80,336,069 (GRCm39) |
V107A |
probably damaging |
Het |
| Rassf10 |
A |
T |
7: 112,554,315 (GRCm39) |
E305D |
probably benign |
Het |
| Rbm45 |
T |
C |
2: 76,202,446 (GRCm39) |
I123T |
probably damaging |
Het |
| Rpp25 |
G |
T |
9: 57,411,635 (GRCm39) |
R39L |
probably damaging |
Het |
| Rreb1 |
A |
G |
13: 38,115,326 (GRCm39) |
N895S |
possibly damaging |
Het |
| Sirpa |
A |
T |
2: 129,458,460 (GRCm39) |
S359C |
possibly damaging |
Het |
| Slc26a9 |
T |
A |
1: 131,680,703 (GRCm39) |
C83S |
probably benign |
Het |
| Spink5 |
T |
G |
18: 44,100,193 (GRCm39) |
L70R |
probably damaging |
Het |
| Stil |
T |
G |
4: 114,898,932 (GRCm39) |
N1187K |
probably benign |
Het |
| Sucla2 |
A |
T |
14: 73,828,303 (GRCm39) |
E303D |
probably benign |
Het |
| Supt3 |
G |
A |
17: 45,305,295 (GRCm39) |
|
probably null |
Het |
| Tmc5 |
G |
T |
7: 118,233,270 (GRCm39) |
S28I |
probably benign |
Het |
| Vps8 |
T |
C |
16: 21,288,979 (GRCm39) |
V444A |
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 |
|
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 |
|
R9071:Prdm4
|
UTSW |
10 |
85,729,076 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCTGCCCCTGTAAAATC -3'
(R):5'- GCTTTCACTAGATTCTGCTTACAG -3'
Sequencing Primer
(F):5'- AGCTGCCCCTGTAAAATCTATCC -3'
(R):5'- CTCAGAATTACTGTACTCGAGGGC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation