Incidental Mutation 'R8548:Prdm11'
ID |
659728 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prdm11
|
Ensembl Gene |
ENSMUSG00000075028 |
Gene Name |
PR domain containing 11 |
Synonyms |
8030443D09Rik |
MMRRC Submission |
068513-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.557)
|
Stock # |
R8548 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
92802363-92876512 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 92843103 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 119
(V119M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136795
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111272]
[ENSMUST00000111274]
[ENSMUST00000147339]
[ENSMUST00000178666]
|
AlphaFold |
A2AGX3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111272
AA Change: V71M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106903 Gene: ENSMUSG00000075028 AA Change: V71M
Domain | Start | End | E-Value | Type |
SANT
|
147 |
217 |
3.94e-3 |
SMART |
low complexity region
|
291 |
312 |
N/A |
INTRINSIC |
low complexity region
|
434 |
448 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111274
AA Change: V119M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106905 Gene: ENSMUSG00000075028 AA Change: V119M
Domain | Start | End | E-Value | Type |
SET
|
115 |
232 |
5.16e-2 |
SMART |
low complexity region
|
369 |
380 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000147339
AA Change: V119M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122809 Gene: ENSMUSG00000075028 AA Change: V119M
Domain | Start | End | E-Value | Type |
PDB:3RAY|A
|
45 |
162 |
4e-80 |
PDB |
Blast:SET
|
92 |
162 |
6e-41 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000178666
AA Change: V119M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136795 Gene: ENSMUSG00000075028 AA Change: V119M
Domain | Start | End | E-Value | Type |
SET
|
115 |
232 |
5.16e-2 |
SMART |
low complexity region
|
369 |
380 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam1a |
A |
T |
5: 121,658,165 (GRCm39) |
L376Q |
probably damaging |
Het |
Akirin1 |
A |
G |
4: 123,631,831 (GRCm39) |
M179T |
possibly damaging |
Het |
Ap5b1 |
G |
T |
19: 5,621,123 (GRCm39) |
V848L |
possibly damaging |
Het |
Apoa2 |
T |
A |
1: 171,053,798 (GRCm39) |
M91K |
probably benign |
Het |
Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
Cdc20 |
A |
C |
4: 118,293,535 (GRCm39) |
S160A |
possibly damaging |
Het |
Cftr |
G |
T |
6: 18,273,698 (GRCm39) |
V839L |
possibly damaging |
Het |
Ctf1 |
A |
T |
7: 127,316,564 (GRCm39) |
H171L |
probably benign |
Het |
Dmac2 |
T |
A |
7: 25,324,217 (GRCm39) |
M225K |
probably damaging |
Het |
Dmbx1 |
A |
T |
4: 115,777,512 (GRCm39) |
V112E |
probably damaging |
Het |
Eloa |
T |
C |
4: 135,732,988 (GRCm39) |
K754R |
probably damaging |
Het |
Ern2 |
G |
A |
7: 121,777,062 (GRCm39) |
T286I |
probably damaging |
Het |
Fam135b |
T |
C |
15: 71,334,659 (GRCm39) |
D845G |
probably damaging |
Het |
Fbxl6 |
T |
A |
15: 76,421,542 (GRCm39) |
M232L |
possibly damaging |
Het |
Gpr171 |
A |
T |
3: 59,005,400 (GRCm39) |
I125K |
probably damaging |
Het |
Hoxa2 |
G |
A |
6: 52,140,098 (GRCm39) |
T296I |
probably damaging |
Het |
Hspa8 |
A |
G |
9: 40,713,767 (GRCm39) |
M87V |
probably benign |
Het |
Ilkap |
G |
T |
1: 91,318,882 (GRCm39) |
D31E |
possibly damaging |
Het |
Ints9 |
T |
C |
14: 65,269,770 (GRCm39) |
S487P |
probably benign |
Het |
Macc1 |
T |
A |
12: 119,414,091 (GRCm39) |
S756T |
probably benign |
Het |
Map2 |
A |
G |
1: 66,452,499 (GRCm39) |
D545G |
probably damaging |
Het |
Mapkbp1 |
A |
G |
2: 119,854,572 (GRCm39) |
N1390D |
probably benign |
Het |
Mgat5 |
G |
A |
1: 127,248,409 (GRCm39) |
V104M |
possibly damaging |
Het |
Myoz2 |
T |
A |
3: 122,827,916 (GRCm39) |
M1L |
possibly damaging |
Het |
Nmt1 |
A |
G |
11: 102,934,052 (GRCm39) |
K64E |
possibly damaging |
Het |
Nr6a1 |
C |
A |
2: 38,619,550 (GRCm39) |
Q448H |
probably damaging |
Het |
Nr6a1 |
T |
G |
2: 38,619,551 (GRCm39) |
Q448P |
probably damaging |
Het |
Odf2 |
T |
C |
2: 29,783,526 (GRCm39) |
|
probably null |
Het |
Or8g37 |
T |
A |
9: 39,731,537 (GRCm39) |
C201S |
probably benign |
Het |
Osbpl6 |
A |
G |
2: 76,409,566 (GRCm39) |
N476S |
possibly damaging |
Het |
Pclo |
A |
G |
5: 14,732,268 (GRCm39) |
|
probably null |
Het |
Plxnd1 |
C |
T |
6: 115,934,558 (GRCm39) |
D1792N |
probably damaging |
Het |
Prss23 |
A |
G |
7: 89,159,416 (GRCm39) |
F218L |
probably benign |
Het |
Rflnb |
A |
G |
11: 75,913,047 (GRCm39) |
Y114H |
probably damaging |
Het |
Skor2 |
T |
A |
18: 76,946,581 (GRCm39) |
I101N |
unknown |
Het |
Sp8 |
A |
C |
12: 118,812,910 (GRCm39) |
Y255S |
possibly damaging |
Het |
Srfbp1 |
G |
A |
18: 52,621,463 (GRCm39) |
V175I |
probably benign |
Het |
Stxbp5 |
C |
T |
10: 9,693,050 (GRCm39) |
D359N |
probably null |
Het |
Thnsl1 |
A |
G |
2: 21,217,733 (GRCm39) |
I496V |
possibly damaging |
Het |
Usp32 |
G |
A |
11: 84,908,653 (GRCm39) |
P1018S |
possibly damaging |
Het |
Usp7 |
A |
T |
16: 8,529,939 (GRCm39) |
V142E |
possibly damaging |
Het |
|
Other mutations in Prdm11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01526:Prdm11
|
APN |
2 |
92,843,102 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02108:Prdm11
|
APN |
2 |
92,806,048 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02166:Prdm11
|
APN |
2 |
92,843,208 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02369:Prdm11
|
APN |
2 |
92,805,864 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02388:Prdm11
|
APN |
2 |
92,805,957 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02606:Prdm11
|
APN |
2 |
92,805,948 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02967:Prdm11
|
APN |
2 |
92,843,234 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03085:Prdm11
|
APN |
2 |
92,805,304 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL03125:Prdm11
|
APN |
2 |
92,810,967 (GRCm39) |
missense |
probably benign |
0.22 |
E0370:Prdm11
|
UTSW |
2 |
92,810,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R0607:Prdm11
|
UTSW |
2 |
92,844,130 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0964:Prdm11
|
UTSW |
2 |
92,819,567 (GRCm39) |
intron |
probably benign |
|
R4011:Prdm11
|
UTSW |
2 |
92,843,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R4298:Prdm11
|
UTSW |
2 |
92,823,728 (GRCm39) |
missense |
probably benign |
0.44 |
R4951:Prdm11
|
UTSW |
2 |
92,810,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R5150:Prdm11
|
UTSW |
2 |
92,805,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R5320:Prdm11
|
UTSW |
2 |
92,843,226 (GRCm39) |
missense |
probably benign |
0.00 |
R5432:Prdm11
|
UTSW |
2 |
92,806,158 (GRCm39) |
missense |
probably benign |
0.00 |
R6442:Prdm11
|
UTSW |
2 |
92,805,990 (GRCm39) |
missense |
probably benign |
0.34 |
R6754:Prdm11
|
UTSW |
2 |
92,844,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R7403:Prdm11
|
UTSW |
2 |
92,817,036 (GRCm39) |
missense |
probably benign |
|
R7480:Prdm11
|
UTSW |
2 |
92,805,669 (GRCm39) |
missense |
probably benign |
0.05 |
R7497:Prdm11
|
UTSW |
2 |
92,843,052 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7633:Prdm11
|
UTSW |
2 |
92,810,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R7873:Prdm11
|
UTSW |
2 |
92,819,628 (GRCm39) |
missense |
probably benign |
0.01 |
R7936:Prdm11
|
UTSW |
2 |
92,806,106 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7939:Prdm11
|
UTSW |
2 |
92,843,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGCACGCATAAATTATCACCTG -3'
(R):5'- AAGGCGGCGGTTCTTATATCC -3'
Sequencing Primer
(F):5'- CGCATAAATTATCACCTGACTGTTTC -3'
(R):5'- GGCGGTTCTTATATCCCACCTCTAC -3'
|
Posted On |
2021-01-18 |