Incidental Mutation 'R6242:Prdm10'
| ID |
505303 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prdm10
|
| Ensembl Gene |
ENSMUSG00000042496 |
| Gene Name |
PR domain containing 10 |
| Synonyms |
LOC382066, tristanin |
| MMRRC Submission |
044434-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6242 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
31191834-31293019 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 31252548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 427
(H427L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074510]
[ENSMUST00000215499]
[ENSMUST00000215847]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074510
AA Change: H378L
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000074104
Gene: ENSMUSG00000042496
AA Change: H378L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
117 |
N/A |
INTRINSIC |
|
PDB:3IHX|D
|
133 |
284 |
1e-104 |
PDB |
|
Blast:SET
|
165 |
277 |
3e-32 |
BLAST |
|
ZnF_C2H2
|
300 |
322 |
5.42e-2 |
SMART |
|
Pfam:Tristanin_u2
|
325 |
455 |
2.4e-49 |
PFAM |
|
ZnF_C2H2
|
471 |
493 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
501 |
523 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
529 |
551 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
557 |
580 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
585 |
607 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
613 |
636 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
668 |
691 |
8.22e-2 |
SMART |
|
ZnF_C2H2
|
801 |
824 |
1.25e-1 |
SMART |
|
low complexity region
|
904 |
916 |
N/A |
INTRINSIC |
|
low complexity region
|
956 |
964 |
N/A |
INTRINSIC |
|
low complexity region
|
988 |
1007 |
N/A |
INTRINSIC |
|
low complexity region
|
1110 |
1122 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215499
AA Change: H409L
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215847
AA Change: H427L
PolyPhen 2
Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
99% (75/76) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor that contains C2H2-type zinc-fingers. It also contains a positive regulatory domain, which has been found in several other zinc-finger transcription factors including those involved in B cell differentiation and tumor suppression. Studies of the mouse counterpart suggest that this protein may be involved in the development of the central nerve system (CNS), as well as in the pathogenesis of neuronal storage disease. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
G |
T |
15: 98,501,896 (GRCm39) |
C239* |
probably null |
Het |
| Akr1c6 |
A |
G |
13: 4,486,361 (GRCm39) |
Q56R |
probably benign |
Het |
| Apaf1 |
T |
A |
10: 90,898,025 (GRCm39) |
D244V |
probably damaging |
Het |
| Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
| Arhgef11 |
C |
A |
3: 87,635,385 (GRCm39) |
A898E |
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,655,433 (GRCm39) |
N1148Y |
probably damaging |
Het |
| Atf6 |
T |
A |
1: 170,621,545 (GRCm39) |
Q492L |
possibly damaging |
Het |
| Atrnl1 |
G |
T |
19: 57,630,910 (GRCm39) |
V226F |
probably benign |
Het |
| Cfap68 |
C |
T |
9: 50,675,215 (GRCm39) |
E148K |
probably benign |
Het |
| Cntnap1 |
A |
T |
11: 101,073,364 (GRCm39) |
Y615F |
probably damaging |
Het |
| Crybg3 |
T |
C |
16: 59,376,053 (GRCm39) |
T1734A |
probably benign |
Het |
| Ctdp1 |
A |
C |
18: 80,502,427 (GRCm39) |
V161G |
probably damaging |
Het |
| Cyp4a30b |
T |
A |
4: 115,311,587 (GRCm39) |
V85E |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Epha6 |
A |
T |
16: 59,503,025 (GRCm39) |
W961R |
probably damaging |
Het |
| Fam114a1 |
A |
G |
5: 65,188,695 (GRCm39) |
E475G |
probably damaging |
Het |
| Fam186a |
A |
G |
15: 99,837,788 (GRCm39) |
Y2819H |
unknown |
Het |
| Fancm |
A |
T |
12: 65,163,216 (GRCm39) |
Q1460L |
probably benign |
Het |
| Fancm |
C |
A |
12: 65,163,223 (GRCm39) |
N1462K |
probably benign |
Het |
| Fgf14 |
T |
C |
14: 124,913,940 (GRCm39) |
K64E |
probably benign |
Het |
| Fndc5 |
T |
C |
4: 129,033,688 (GRCm39) |
V152A |
probably benign |
Het |
| Garem1 |
C |
G |
18: 21,262,229 (GRCm39) |
V862L |
possibly damaging |
Het |
| Grin3b |
G |
A |
10: 79,812,013 (GRCm39) |
G814R |
probably damaging |
Het |
| Hacd4 |
A |
G |
4: 88,332,524 (GRCm39) |
S226P |
probably benign |
Het |
| Htt |
A |
G |
5: 35,003,356 (GRCm39) |
Y1277C |
probably damaging |
Het |
| Igkv1-131 |
T |
A |
6: 67,743,062 (GRCm39) |
D107V |
probably damaging |
Het |
| Iqcc |
T |
C |
4: 129,510,639 (GRCm39) |
D292G |
probably damaging |
Het |
| Krtap13 |
C |
T |
16: 88,548,384 (GRCm39) |
V35I |
probably damaging |
Het |
| Liat1 |
T |
C |
11: 75,890,981 (GRCm39) |
S32P |
probably damaging |
Het |
| Lrrc59 |
G |
T |
11: 94,525,809 (GRCm39) |
L132F |
possibly damaging |
Het |
| Mcub |
T |
C |
3: 129,709,444 (GRCm39) |
S290G |
probably benign |
Het |
| Mettl4 |
A |
G |
17: 95,042,802 (GRCm39) |
W345R |
probably damaging |
Het |
| Msgn1 |
G |
A |
12: 11,258,526 (GRCm39) |
R142W |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,180,893 (GRCm39) |
I761V |
probably benign |
Het |
| Neb |
T |
A |
2: 52,066,824 (GRCm39) |
K5879M |
probably damaging |
Het |
| Nkd2 |
C |
T |
13: 73,970,905 (GRCm39) |
V226M |
probably damaging |
Het |
| Nt5el |
T |
A |
13: 105,246,048 (GRCm39) |
V203E |
probably benign |
Het |
| Or51a24 |
T |
G |
7: 103,733,771 (GRCm39) |
H172P |
possibly damaging |
Het |
| Or5b106 |
T |
A |
19: 13,123,450 (GRCm39) |
H191L |
probably benign |
Het |
| Parp4 |
T |
A |
14: 56,832,856 (GRCm39) |
L393* |
probably null |
Het |
| Pcdhgb6 |
G |
A |
18: 37,876,608 (GRCm39) |
V439I |
probably benign |
Het |
| Pde1a |
T |
A |
2: 79,959,136 (GRCm39) |
T15S |
probably benign |
Het |
| Pgr |
T |
A |
9: 8,900,980 (GRCm39) |
I171N |
probably benign |
Het |
| Podxl |
T |
A |
6: 31,503,180 (GRCm39) |
D296V |
probably benign |
Het |
| Polr3e |
A |
T |
7: 120,539,690 (GRCm39) |
E479V |
possibly damaging |
Het |
| Prl5a1 |
A |
T |
13: 28,326,538 (GRCm39) |
K5* |
probably null |
Het |
| Prph |
A |
G |
15: 98,955,004 (GRCm39) |
S325G |
probably damaging |
Het |
| Rabl2 |
C |
A |
15: 89,468,555 (GRCm39) |
W49L |
probably benign |
Het |
| Rbbp8nl |
T |
A |
2: 179,922,767 (GRCm39) |
I209F |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
| Scn7a |
T |
C |
2: 66,531,110 (GRCm39) |
D589G |
probably benign |
Het |
| Sdr42e1 |
A |
T |
8: 118,389,936 (GRCm39) |
L235Q |
possibly damaging |
Het |
| Serpina3a |
T |
C |
12: 104,082,260 (GRCm39) |
M11T |
probably benign |
Het |
| Slc6a4 |
A |
T |
11: 76,909,184 (GRCm39) |
K399* |
probably null |
Het |
| Slco4c1 |
T |
A |
1: 96,767,008 (GRCm39) |
T337S |
probably damaging |
Het |
| Spc25 |
A |
T |
2: 69,027,555 (GRCm39) |
F112L |
probably damaging |
Het |
| Swt1 |
A |
G |
1: 151,283,365 (GRCm39) |
S331P |
probably benign |
Het |
| Tab1 |
A |
T |
15: 80,039,971 (GRCm39) |
K264* |
probably null |
Het |
| Tagln3 |
T |
A |
16: 45,544,701 (GRCm39) |
|
probably benign |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tbck |
A |
G |
3: 132,400,189 (GRCm39) |
D80G |
probably benign |
Het |
| Tcim |
A |
T |
8: 24,928,911 (GRCm39) |
M1K |
probably null |
Het |
| Thap2 |
A |
G |
10: 115,208,831 (GRCm39) |
S37P |
unknown |
Het |
| Tjp2 |
A |
T |
19: 24,076,967 (GRCm39) |
|
probably null |
Het |
| Tln1 |
G |
A |
4: 43,533,145 (GRCm39) |
S2390L |
probably damaging |
Het |
| Trpm5 |
T |
G |
7: 142,626,919 (GRCm39) |
I1101L |
probably benign |
Het |
| Ttc3 |
T |
G |
16: 94,243,554 (GRCm39) |
M831R |
probably benign |
Het |
| Tulp3 |
A |
G |
6: 128,300,050 (GRCm39) |
C459R |
probably damaging |
Het |
| Uaca |
G |
A |
9: 60,777,326 (GRCm39) |
R571Q |
probably damaging |
Het |
| Unc13b |
A |
T |
4: 43,165,800 (GRCm39) |
T195S |
possibly damaging |
Het |
| Urgcp |
A |
G |
11: 5,666,691 (GRCm39) |
L549P |
probably benign |
Het |
| Usp10 |
G |
T |
8: 120,668,577 (GRCm39) |
A293S |
probably benign |
Het |
| Vmn2r23 |
A |
G |
6: 123,681,359 (GRCm39) |
E89G |
possibly damaging |
Het |
| Vmn2r75 |
A |
C |
7: 85,814,592 (GRCm39) |
D300E |
probably damaging |
Het |
| Wif1 |
T |
C |
10: 120,870,366 (GRCm39) |
I40T |
possibly damaging |
Het |
| Zmynd8 |
G |
A |
2: 165,740,867 (GRCm39) |
R6C |
possibly damaging |
Het |
|
| Other mutations in Prdm10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Prdm10
|
APN |
9 |
31,272,108 (GRCm39) |
splice site |
probably benign |
|
|
IGL00485:Prdm10
|
APN |
9 |
31,238,842 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL00757:Prdm10
|
APN |
9 |
31,229,842 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL00836:Prdm10
|
APN |
9 |
31,241,165 (GRCm39) |
splice site |
probably benign |
|
|
IGL01505:Prdm10
|
APN |
9 |
31,238,578 (GRCm39) |
missense |
probably benign |
|
|
IGL01594:Prdm10
|
APN |
9 |
31,258,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01894:Prdm10
|
APN |
9 |
31,227,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01927:Prdm10
|
APN |
9 |
31,246,694 (GRCm39) |
splice site |
probably benign |
|
|
IGL02053:Prdm10
|
APN |
9 |
31,272,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02068:Prdm10
|
APN |
9 |
31,248,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02295:Prdm10
|
APN |
9 |
31,273,664 (GRCm39) |
missense |
probably benign |
|
|
IGL02390:Prdm10
|
APN |
9 |
31,264,685 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02574:Prdm10
|
APN |
9 |
31,268,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02636:Prdm10
|
APN |
9 |
31,240,977 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02883:Prdm10
|
APN |
9 |
31,238,644 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03057:Prdm10
|
APN |
9 |
31,260,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4142001:Prdm10
|
UTSW |
9 |
31,237,063 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0089:Prdm10
|
UTSW |
9 |
31,227,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0149:Prdm10
|
UTSW |
9 |
31,227,455 (GRCm39) |
splice site |
probably benign |
|
|
R0306:Prdm10
|
UTSW |
9 |
31,227,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0386:Prdm10
|
UTSW |
9 |
31,227,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0390:Prdm10
|
UTSW |
9 |
31,260,564 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1512:Prdm10
|
UTSW |
9 |
31,248,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1528:Prdm10
|
UTSW |
9 |
31,268,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2409:Prdm10
|
UTSW |
9 |
31,260,418 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3745:Prdm10
|
UTSW |
9 |
31,251,703 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3929:Prdm10
|
UTSW |
9 |
31,258,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4295:Prdm10
|
UTSW |
9 |
31,227,590 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4629:Prdm10
|
UTSW |
9 |
31,248,612 (GRCm39) |
nonsense |
probably null |
|
|
R4660:Prdm10
|
UTSW |
9 |
31,238,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4758:Prdm10
|
UTSW |
9 |
31,273,708 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4793:Prdm10
|
UTSW |
9 |
31,264,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4798:Prdm10
|
UTSW |
9 |
31,252,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4806:Prdm10
|
UTSW |
9 |
31,241,237 (GRCm39) |
makesense |
probably null |
|
|
R4865:Prdm10
|
UTSW |
9 |
31,258,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5068:Prdm10
|
UTSW |
9 |
31,270,343 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5093:Prdm10
|
UTSW |
9 |
31,252,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5162:Prdm10
|
UTSW |
9 |
31,251,714 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5656:Prdm10
|
UTSW |
9 |
31,264,713 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5855:Prdm10
|
UTSW |
9 |
31,248,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6396:Prdm10
|
UTSW |
9 |
31,229,842 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6970:Prdm10
|
UTSW |
9 |
31,241,119 (GRCm39) |
nonsense |
probably null |
|
|
R7165:Prdm10
|
UTSW |
9 |
31,227,738 (GRCm39) |
splice site |
probably null |
|
|
R7177:Prdm10
|
UTSW |
9 |
31,279,003 (GRCm39) |
missense |
probably benign |
|
|
R7201:Prdm10
|
UTSW |
9 |
31,227,602 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7313:Prdm10
|
UTSW |
9 |
31,268,456 (GRCm39) |
nonsense |
probably null |
|
|
R7337:Prdm10
|
UTSW |
9 |
31,227,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7511:Prdm10
|
UTSW |
9 |
31,289,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7711:Prdm10
|
UTSW |
9 |
31,268,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7855:Prdm10
|
UTSW |
9 |
31,238,770 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7965:Prdm10
|
UTSW |
9 |
31,258,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7997:Prdm10
|
UTSW |
9 |
31,264,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8168:Prdm10
|
UTSW |
9 |
31,258,263 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8717:Prdm10
|
UTSW |
9 |
31,252,695 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8865:Prdm10
|
UTSW |
9 |
31,238,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8880:Prdm10
|
UTSW |
9 |
31,264,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9022:Prdm10
|
UTSW |
9 |
31,268,424 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9200:Prdm10
|
UTSW |
9 |
31,268,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9288:Prdm10
|
UTSW |
9 |
31,252,674 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9607:Prdm10
|
UTSW |
9 |
31,260,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF004:Prdm10
|
UTSW |
9 |
31,270,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Prdm10
|
UTSW |
9 |
31,273,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Prdm10
|
UTSW |
9 |
31,227,589 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Prdm10
|
UTSW |
9 |
31,227,464 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACACATTCACCTGTTTGTTAAC -3'
(R):5'- CATGTCATCGGCTGTCAGAG -3'
Sequencing Primer
(F):5'- GGTAGCATGTTCCATAGTCCTAGC -3'
(R):5'- CATCGGCTGTCAGAGTGGTC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation