Incidental Mutation 'IGL02576:Prdm4'
ID |
299194 |
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 # |
IGL02576
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
85727828-85752958 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 85736801 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 613
(M613T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151931
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037646]
[ENSMUST00000219370]
[ENSMUST00000220032]
|
AlphaFold |
Q80V63 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037646
AA Change: M606T
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000041942 Gene: ENSMUSG00000035529 AA Change: M606T
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: ENSMUST00000218743
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219112
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219370
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220032
AA Change: M613T
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
G |
7: 120,032,678 (GRCm39) |
I232M |
probably benign |
Het |
Ace |
G |
A |
11: 105,864,937 (GRCm39) |
V537M |
probably damaging |
Het |
Alg1 |
A |
G |
16: 5,062,393 (GRCm39) |
E425G |
possibly damaging |
Het |
Cacng3 |
G |
A |
7: 122,271,133 (GRCm39) |
S46N |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cfap65 |
A |
G |
1: 74,942,617 (GRCm39) |
S1646P |
probably damaging |
Het |
Cimap2 |
T |
C |
4: 106,448,825 (GRCm39) |
D411G |
possibly damaging |
Het |
Col20a1 |
C |
T |
2: 180,655,198 (GRCm39) |
Q1152* |
probably null |
Het |
D130043K22Rik |
A |
C |
13: 25,040,853 (GRCm39) |
T92P |
possibly damaging |
Het |
Drc3 |
T |
C |
11: 60,261,377 (GRCm39) |
M176T |
probably benign |
Het |
Esyt3 |
T |
C |
9: 99,197,278 (GRCm39) |
R851G |
probably benign |
Het |
Fbxo43 |
A |
G |
15: 36,152,321 (GRCm39) |
V496A |
probably benign |
Het |
Fut4 |
T |
A |
9: 14,662,701 (GRCm39) |
M198L |
probably damaging |
Het |
Galt |
C |
T |
4: 41,755,953 (GRCm39) |
|
probably benign |
Het |
Glipr1l1 |
A |
G |
10: 111,896,224 (GRCm39) |
K4E |
possibly damaging |
Het |
Gm9945 |
A |
G |
11: 53,371,178 (GRCm39) |
|
probably benign |
Het |
Hspa12a |
A |
C |
19: 58,787,842 (GRCm39) |
I660R |
possibly damaging |
Het |
Htr3b |
T |
C |
9: 48,856,804 (GRCm39) |
I225V |
possibly damaging |
Het |
Igf2r |
T |
C |
17: 12,967,650 (GRCm39) |
D23G |
possibly damaging |
Het |
Igsf5 |
A |
G |
16: 96,187,781 (GRCm39) |
I158V |
probably benign |
Het |
Itgae |
A |
G |
11: 73,009,331 (GRCm39) |
Y505C |
possibly damaging |
Het |
Kif16b |
A |
G |
2: 142,704,465 (GRCm39) |
|
probably benign |
Het |
Kif26b |
T |
C |
1: 178,743,912 (GRCm39) |
V1336A |
probably benign |
Het |
Kmt2d |
A |
G |
15: 98,762,001 (GRCm39) |
S450P |
unknown |
Het |
Lhfpl2 |
G |
A |
13: 94,310,734 (GRCm39) |
M1I |
probably null |
Het |
Lig4 |
A |
G |
8: 10,021,116 (GRCm39) |
I888T |
probably damaging |
Het |
Msh4 |
G |
A |
3: 153,573,383 (GRCm39) |
T563M |
probably damaging |
Het |
Muc5ac |
C |
T |
7: 141,370,781 (GRCm39) |
A3238V |
probably benign |
Het |
Myo15b |
A |
G |
11: 115,780,879 (GRCm39) |
S1246G |
probably null |
Het |
Or5h25 |
T |
C |
16: 58,930,134 (GRCm39) |
I280V |
probably benign |
Het |
Pecam1 |
G |
A |
11: 106,562,600 (GRCm39) |
T599M |
probably damaging |
Het |
Phf3 |
G |
A |
1: 30,869,117 (GRCm39) |
P644S |
probably benign |
Het |
Pkd1l1 |
A |
C |
11: 8,794,560 (GRCm39) |
F2317C |
possibly damaging |
Het |
Prim2 |
A |
T |
1: 33,523,798 (GRCm39) |
I371N |
probably damaging |
Het |
Ptprs |
T |
C |
17: 56,721,958 (GRCm39) |
D1316G |
probably damaging |
Het |
Rnf19b |
C |
T |
4: 128,967,315 (GRCm39) |
R285* |
probably null |
Het |
Secisbp2 |
A |
G |
13: 51,824,894 (GRCm39) |
N381D |
possibly damaging |
Het |
Slc28a2 |
T |
C |
2: 122,288,652 (GRCm39) |
I586T |
probably damaging |
Het |
Spef1 |
T |
C |
2: 131,016,562 (GRCm39) |
H11R |
possibly damaging |
Het |
Taar4 |
T |
C |
10: 23,836,909 (GRCm39) |
L173S |
probably damaging |
Het |
Tas2r123 |
T |
C |
6: 132,824,703 (GRCm39) |
F200S |
possibly damaging |
Het |
Tex16 |
T |
A |
X: 111,028,653 (GRCm39) |
L384Q |
probably benign |
Het |
Tox2 |
A |
G |
2: 163,118,100 (GRCm39) |
Q168R |
probably damaging |
Het |
Trim5 |
T |
A |
7: 103,927,624 (GRCm39) |
E172V |
probably damaging |
Het |
Txndc11 |
G |
A |
16: 10,892,881 (GRCm39) |
|
probably benign |
Het |
Vmn1r232 |
T |
A |
17: 21,134,175 (GRCm39) |
I142F |
probably benign |
Het |
Zdhhc25 |
A |
T |
15: 88,485,472 (GRCm39) |
H269L |
probably benign |
Het |
Znrf4 |
T |
C |
17: 56,819,199 (GRCm39) |
D36G |
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 |
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 |
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 |
2015-04-16 |