Incidental Mutation 'R5972:Prdm4'
| ID |
471476 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prdm4
|
| Ensembl Gene |
ENSMUSG00000035529 |
| Gene Name |
PR domain containing 4 |
| Synonyms |
SC-1, SC1, 1700031E19Rik, 2810470D21Rik |
| MMRRC Submission |
044155-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5972 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
85727828-85752958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 85743365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 297
(V297M)
|
| 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: V297M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000041942
Gene: ENSMUSG00000035529
AA Change: V297M
| 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 damaging
Transcript: ENSMUST00000220032
AA Change: V297M
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.0700 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
100% (51/51) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
T |
A |
6: 58,649,070 (GRCm39) |
M305K |
probably benign |
Het |
| Accs |
G |
T |
2: 93,669,572 (GRCm39) |
H283N |
probably damaging |
Het |
| Actl6b |
A |
T |
5: 137,564,818 (GRCm39) |
H283L |
possibly damaging |
Het |
| Adgra1 |
T |
C |
7: 139,425,583 (GRCm39) |
L32P |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Arfgef2 |
T |
C |
2: 166,733,756 (GRCm39) |
I1672T |
probably damaging |
Het |
| Bambi |
T |
A |
18: 3,512,354 (GRCm39) |
V246E |
probably damaging |
Het |
| BC048679 |
A |
G |
7: 81,145,479 (GRCm39) |
L29P |
probably damaging |
Het |
| Bmal2 |
A |
G |
6: 146,711,187 (GRCm39) |
M64V |
probably damaging |
Het |
| Camk4 |
T |
C |
18: 33,240,979 (GRCm39) |
L92P |
probably damaging |
Het |
| Ddx11 |
C |
A |
17: 66,455,085 (GRCm39) |
Q655K |
probably benign |
Het |
| Ddx52 |
A |
G |
11: 83,844,051 (GRCm39) |
|
probably null |
Het |
| Entrep3 |
T |
A |
3: 89,093,115 (GRCm39) |
V213D |
probably damaging |
Het |
| Eps8l3 |
T |
C |
3: 107,791,763 (GRCm39) |
|
probably null |
Het |
| Erap1 |
T |
A |
13: 74,810,423 (GRCm39) |
|
probably null |
Het |
| Flg |
T |
A |
3: 93,186,849 (GRCm39) |
N100K |
probably benign |
Het |
| Grip2 |
A |
T |
6: 91,784,262 (GRCm39) |
V13E |
probably benign |
Het |
| Iars1 |
T |
C |
13: 49,863,108 (GRCm39) |
V520A |
possibly damaging |
Het |
| Impa1 |
A |
G |
3: 10,394,064 (GRCm39) |
M1T |
probably null |
Het |
| Ip6k3 |
T |
C |
17: 27,368,934 (GRCm39) |
T179A |
possibly damaging |
Het |
| Krt87 |
T |
A |
15: 101,385,467 (GRCm39) |
M302L |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,726,267 (GRCm39) |
Y899H |
probably damaging |
Het |
| Lrpprc |
A |
T |
17: 85,020,250 (GRCm39) |
I1145N |
possibly damaging |
Het |
| Mapk11 |
A |
T |
15: 89,028,387 (GRCm39) |
D324E |
probably benign |
Het |
| Melk |
C |
T |
4: 44,351,007 (GRCm39) |
T516I |
probably benign |
Het |
| Mia2 |
C |
T |
12: 59,193,723 (GRCm39) |
H130Y |
probably damaging |
Het |
| Mroh5 |
C |
T |
15: 73,662,568 (GRCm39) |
|
probably null |
Het |
| Ncam1 |
T |
C |
9: 49,418,829 (GRCm39) |
T824A |
possibly damaging |
Het |
| Neurog1 |
T |
C |
13: 56,399,211 (GRCm39) |
S179G |
probably damaging |
Het |
| Ntrk2 |
T |
A |
13: 58,985,633 (GRCm39) |
L79Q |
probably damaging |
Het |
| Patj |
T |
A |
4: 98,457,290 (GRCm39) |
M46K |
probably damaging |
Het |
| Pdcd6ip |
T |
C |
9: 113,491,366 (GRCm39) |
K626E |
probably benign |
Het |
| Pdss2 |
T |
A |
10: 43,174,922 (GRCm39) |
Y143N |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,408,812 (GRCm39) |
S2433N |
probably damaging |
Het |
| Plekha5 |
A |
G |
6: 140,518,639 (GRCm39) |
T309A |
possibly damaging |
Het |
| Rab15 |
T |
C |
12: 76,847,377 (GRCm39) |
Y148C |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,664,409 (GRCm39) |
N1627K |
probably damaging |
Het |
| Scn1a |
G |
T |
2: 66,181,454 (GRCm39) |
A23E |
possibly damaging |
Het |
| Smtn |
A |
T |
11: 3,483,486 (GRCm39) |
I30N |
probably damaging |
Het |
| Sympk |
A |
G |
7: 18,780,749 (GRCm39) |
K751E |
probably benign |
Het |
| Usp24 |
C |
T |
4: 106,225,264 (GRCm39) |
P632L |
probably damaging |
Het |
| Vmn2r106 |
A |
G |
17: 20,498,738 (GRCm39) |
I391T |
probably benign |
Het |
| Vmn2r54 |
G |
A |
7: 12,349,279 (GRCm39) |
P768S |
probably damaging |
Het |
| Vmn2r54 |
C |
T |
7: 12,369,874 (GRCm39) |
C63Y |
probably damaging |
Het |
| Zfhx3 |
T |
G |
8: 109,677,483 (GRCm39) |
C2844W |
possibly 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 |
|
|
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'- ACAAGGTTGCCATGTTTTCC -3'
(R):5'- GTGAGCAACAGCCTTACAGC -3'
Sequencing Primer
(F):5'- TCTTCCATTTGCAGTGAAGATGGTAC -3'
(R):5'- GAGCAACAGCCTTACAGCAGAAG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation