Incidental Mutation 'R4373:Prdm8'
| ID |
326055 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prdm8
|
| Ensembl Gene |
ENSMUSG00000035456 |
| Gene Name |
PR domain containing 8 |
| Synonyms |
|
| MMRRC Submission |
041675-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.585)
|
| Stock # |
R4373 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
98315241-98335313 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98334367 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 645
(S645P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112959]
[ENSMUST00000210477]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000057889
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112959
AA Change: S645P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108583
Gene: ENSMUSG00000035456
AA Change: S645P
| Domain | Start | End | E-Value | Type |
|---|
|
SET
|
20 |
137 |
1.55e0 |
SMART |
|
ZnF_C2H2
|
154 |
182 |
2.37e2 |
SMART |
|
low complexity region
|
192 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
332 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
471 |
492 |
N/A |
INTRINSIC |
|
low complexity region
|
556 |
570 |
N/A |
INTRINSIC |
|
low complexity region
|
599 |
621 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
624 |
646 |
9.22e0 |
SMART |
|
ZnF_C2H2
|
665 |
687 |
1.2e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197382
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197527
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198172
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205851
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210477
AA Change: S645P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.2299 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
98% (54/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to a conserved family of histone methyltransferases that predominantly act as negative regulators of transcription. The encoded protein contains an N-terminal Su(var)3-9, Enhancer-of-zeste, and Trithorax (SET) domain and a double zinc-finger domain. Knockout of this gene in mouse results in mistargeting by neurons of the dorsal telencephalon, abnormal itch-like behavior, and impaired differentiation of rod bipolar cells. In humans, the protein has been shown to interact with the phosphatase laforin and the ubiquitin ligase malin, which regulate glycogen construction in the cytoplasm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature termination of corticopsinal motor neuron axons, absent corpus callosum and hippocampal commissure, excessive scratching, skin lesions, and contraction of hindpaws resulting a handstand phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck5 |
A |
G |
15: 76,478,535 (GRCm39) |
|
probably benign |
Het |
| Akr1b1 |
A |
C |
6: 34,281,202 (GRCm39) |
|
probably benign |
Het |
| Armh4 |
T |
A |
14: 50,007,893 (GRCm39) |
T527S |
probably damaging |
Het |
| Asns |
A |
T |
6: 7,677,978 (GRCm39) |
S367T |
probably damaging |
Het |
| BC034090 |
T |
C |
1: 155,101,904 (GRCm39) |
N120S |
probably benign |
Het |
| Bub1 |
A |
T |
2: 127,647,156 (GRCm39) |
|
probably benign |
Het |
| Csf1 |
T |
A |
3: 107,664,055 (GRCm39) |
T38S |
probably damaging |
Het |
| Ctsz |
T |
C |
2: 174,270,378 (GRCm39) |
E268G |
possibly damaging |
Het |
| Dach1 |
G |
A |
14: 98,065,186 (GRCm39) |
T685I |
possibly damaging |
Het |
| Dclre1a |
A |
G |
19: 56,533,874 (GRCm39) |
L240S |
probably benign |
Het |
| Ercc1 |
G |
A |
7: 19,081,057 (GRCm39) |
|
probably benign |
Het |
| Esam |
C |
T |
9: 37,445,492 (GRCm39) |
T71I |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Gde1 |
A |
G |
7: 118,297,781 (GRCm39) |
L35P |
possibly damaging |
Het |
| Gm10382 |
A |
G |
5: 125,466,647 (GRCm39) |
|
probably benign |
Het |
| H2-M10.6 |
T |
C |
17: 37,123,958 (GRCm39) |
Y141H |
probably damaging |
Het |
| Hk1 |
C |
A |
10: 62,151,319 (GRCm39) |
K10N |
probably damaging |
Het |
| Lamc3 |
A |
G |
2: 31,788,244 (GRCm39) |
K135E |
probably damaging |
Het |
| Lrtm2 |
A |
G |
6: 119,297,489 (GRCm39) |
F184S |
probably damaging |
Het |
| Marchf11 |
A |
G |
15: 26,309,532 (GRCm39) |
E62G |
probably damaging |
Het |
| Mtcl1 |
T |
A |
17: 66,687,074 (GRCm39) |
T611S |
probably benign |
Het |
| Myc |
A |
T |
15: 61,861,513 (GRCm39) |
H373L |
probably damaging |
Het |
| Myh6 |
T |
A |
14: 55,199,565 (GRCm39) |
I249F |
probably damaging |
Het |
| Naaa |
T |
C |
5: 92,426,002 (GRCm39) |
|
probably benign |
Het |
| Nfib |
A |
G |
4: 82,241,895 (GRCm39) |
V432A |
probably damaging |
Het |
| Nmt1 |
A |
G |
11: 102,934,026 (GRCm39) |
K55R |
probably damaging |
Het |
| Opa3 |
C |
T |
7: 18,978,699 (GRCm39) |
R55W |
probably damaging |
Het |
| Or4c122 |
T |
C |
2: 89,079,589 (GRCm39) |
R150G |
possibly damaging |
Het |
| Pfn4 |
T |
A |
12: 4,820,182 (GRCm39) |
D10E |
probably damaging |
Het |
| Pld5 |
T |
A |
1: 175,967,583 (GRCm39) |
I91F |
probably damaging |
Het |
| Plec |
A |
C |
15: 76,067,317 (GRCm39) |
S1350A |
probably damaging |
Het |
| Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
| Ppp1r16b |
T |
C |
2: 158,603,685 (GRCm39) |
Y537H |
probably damaging |
Het |
| Rgs1 |
T |
C |
1: 144,123,644 (GRCm39) |
T94A |
probably benign |
Het |
| Rpl11 |
G |
A |
4: 135,778,454 (GRCm39) |
|
probably benign |
Het |
| Sanbr |
A |
T |
11: 23,565,265 (GRCm39) |
|
probably null |
Het |
| Scamp3 |
G |
A |
3: 89,089,234 (GRCm39) |
|
probably null |
Het |
| Sgsm1 |
TTTTATATT |
TTT |
5: 113,405,989 (GRCm39) |
|
probably benign |
Het |
| Sirpb1b |
A |
T |
3: 15,613,821 (GRCm39) |
I87K |
probably damaging |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Stat4 |
T |
C |
1: 52,111,100 (GRCm39) |
|
probably null |
Het |
| Tex9 |
A |
T |
9: 72,387,877 (GRCm39) |
|
probably null |
Het |
| Tsku |
T |
C |
7: 98,002,038 (GRCm39) |
T98A |
probably benign |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Vmn2r116 |
A |
C |
17: 23,620,395 (GRCm39) |
I710L |
probably benign |
Het |
| Vmn2r16 |
A |
T |
5: 109,511,667 (GRCm39) |
I625F |
probably damaging |
Het |
| Xpo4 |
G |
A |
14: 57,828,479 (GRCm39) |
Q794* |
probably null |
Het |
| Zfp112 |
T |
A |
7: 23,824,473 (GRCm39) |
I147N |
probably damaging |
Het |
| Zmiz1 |
T |
C |
14: 25,636,434 (GRCm39) |
S140P |
probably damaging |
Het |
|
| Other mutations in Prdm8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Prdm8
|
APN |
5 |
98,331,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02208:Prdm8
|
APN |
5 |
98,331,324 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02676:Prdm8
|
APN |
5 |
98,334,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0060:Prdm8
|
UTSW |
5 |
98,333,119 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0063:Prdm8
|
UTSW |
5 |
98,332,453 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0063:Prdm8
|
UTSW |
5 |
98,332,453 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0630:Prdm8
|
UTSW |
5 |
98,332,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1099:Prdm8
|
UTSW |
5 |
98,331,361 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4643:Prdm8
|
UTSW |
5 |
98,332,446 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4936:Prdm8
|
UTSW |
5 |
98,332,882 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4936:Prdm8
|
UTSW |
5 |
98,332,881 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5033:Prdm8
|
UTSW |
5 |
98,333,071 (GRCm39) |
nonsense |
probably null |
|
|
R5495:Prdm8
|
UTSW |
5 |
98,333,165 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6307:Prdm8
|
UTSW |
5 |
98,333,162 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6562:Prdm8
|
UTSW |
5 |
98,331,202 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6970:Prdm8
|
UTSW |
5 |
98,332,471 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7343:Prdm8
|
UTSW |
5 |
98,332,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8417:Prdm8
|
UTSW |
5 |
98,332,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8421:Prdm8
|
UTSW |
5 |
98,333,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9159:Prdm8
|
UTSW |
5 |
98,334,175 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9644:Prdm8
|
UTSW |
5 |
98,333,638 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Prdm8
|
UTSW |
5 |
98,334,410 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Prdm8
|
UTSW |
5 |
98,332,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGAGCCCCTTCCTCTAC -3'
(R):5'- ATGTCATCCTCGCGTGTCTG -3'
Sequencing Primer
(F):5'- TTCTGGCCCAAGAGCTCG -3'
(R):5'- GCTTGACTGTGCGTGCAC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation