Incidental Mutation 'R3426:Prdm4'
| ID |
267883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prdm4
|
| Ensembl Gene |
ENSMUSG00000035529 |
| Gene Name |
PR domain containing 4 |
| Synonyms |
SC-1, SC1, 1700031E19Rik, 2810470D21Rik |
| MMRRC Submission |
040644-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3426 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
85727828-85752958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85746153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 85
(N85D)
|
| 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: N85D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041942
Gene: ENSMUSG00000035529
AA Change: N85D
| 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 damaging
Transcript: ENSMUST00000218969
AA Change: N85D
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219112
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219370
AA Change: N85D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220032
AA Change: N85D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
C |
A |
8: 25,157,620 (GRCm39) |
C110F |
probably damaging |
Het |
| Adrb3 |
T |
C |
8: 27,718,209 (GRCm39) |
D80G |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 52,934,817 (GRCm39) |
N770Y |
probably damaging |
Het |
| Ank3 |
A |
G |
10: 69,542,724 (GRCm39) |
H28R |
probably benign |
Het |
| Atrn |
A |
G |
2: 130,862,876 (GRCm39) |
M1319V |
probably benign |
Het |
| BC034090 |
T |
C |
1: 155,117,244 (GRCm39) |
I291M |
probably benign |
Het |
| Cc2d2a |
T |
C |
5: 43,893,451 (GRCm39) |
S1416P |
probably benign |
Het |
| Chd6 |
G |
T |
2: 160,832,175 (GRCm39) |
T999N |
probably damaging |
Het |
| Col9a2 |
C |
A |
4: 120,907,604 (GRCm39) |
A335E |
possibly damaging |
Het |
| Epb42 |
A |
T |
2: 120,860,520 (GRCm39) |
L160M |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Igtp |
G |
A |
11: 58,097,419 (GRCm39) |
V197I |
probably damaging |
Het |
| Nup214 |
G |
A |
2: 31,923,415 (GRCm39) |
V1315M |
probably damaging |
Het |
| Or4c100 |
T |
A |
2: 88,356,208 (GRCm39) |
C94S |
probably damaging |
Het |
| Plek |
T |
C |
11: 16,940,142 (GRCm39) |
Y166C |
probably damaging |
Het |
| Prelid1 |
T |
G |
13: 55,470,007 (GRCm39) |
V2G |
probably benign |
Het |
| Serac1 |
T |
C |
17: 6,117,053 (GRCm39) |
I168V |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc22a5 |
A |
G |
11: 53,760,152 (GRCm39) |
V388A |
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trpv3 |
A |
T |
11: 73,176,767 (GRCm39) |
Y382F |
probably damaging |
Het |
| Ttyh1 |
T |
C |
7: 4,136,218 (GRCm39) |
|
probably null |
Het |
| Ubr2 |
T |
C |
17: 47,279,365 (GRCm39) |
Y681C |
probably damaging |
Het |
| Unc80 |
G |
A |
1: 66,678,464 (GRCm39) |
V2082I |
probably benign |
Het |
| Utp14b |
T |
C |
1: 78,643,056 (GRCm39) |
M318T |
probably damaging |
Het |
| Vars2 |
A |
T |
17: 35,972,866 (GRCm39) |
I442N |
probably damaging |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
| Wtap |
C |
T |
17: 13,186,425 (GRCm39) |
R374Q |
possibly damaging |
Het |
| Zfp606 |
T |
C |
7: 12,223,591 (GRCm39) |
M34T |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGCTAACAAGACTCAAATTGC -3'
(R):5'- CTGTGAGTTCTAAGAGATTTGTCAG -3'
Sequencing Primer
(F):5'- AGACTCAAATTGCGTCCTTTAATAC -3'
(R):5'- CCAGTGGCAATTCCAAAC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation