Incidental Mutation 'R4011:Prdm11'
| ID |
311676 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prdm11
|
| Ensembl Gene |
ENSMUSG00000075028 |
| Gene Name |
PR domain containing 11 |
| Synonyms |
8030443D09Rik |
| MMRRC Submission |
040948-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.557)
|
| Stock # |
R4011 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
92802363-92876512 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92843175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 95
(F95L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111272]
[ENSMUST00000111274]
[ENSMUST00000147339]
[ENSMUST00000178666]
|
| AlphaFold |
A2AGX3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111272
AA Change: F47L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106903
Gene: ENSMUSG00000075028
AA Change: F47L
| 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: F95L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106905
Gene: ENSMUSG00000075028
AA Change: F95L
| Domain | Start | End | E-Value | Type |
|---|
|
SET
|
115 |
232 |
5.16e-2 |
SMART |
|
low complexity region
|
369 |
380 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130441
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147339
AA Change: F95L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122809
Gene: ENSMUSG00000075028
AA Change: F95L
| 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: F95L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136795
Gene: ENSMUSG00000075028
AA Change: F95L
| Domain | Start | End | E-Value | Type |
|---|
|
SET
|
115 |
232 |
5.16e-2 |
SMART |
|
low complexity region
|
369 |
380 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
A |
11: 9,572,013 (GRCm39) |
|
probably benign |
Het |
| Acss2 |
T |
A |
2: 155,399,548 (GRCm39) |
L529Q |
probably damaging |
Het |
| Adsl |
T |
C |
15: 80,850,357 (GRCm39) |
S359P |
probably benign |
Het |
| C1qtnf1 |
G |
A |
11: 118,337,365 (GRCm39) |
G65D |
probably benign |
Het |
| Chd1l |
A |
T |
3: 97,477,718 (GRCm39) |
M679K |
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,794,601 (GRCm39) |
T779A |
probably benign |
Het |
| Ddx18 |
T |
C |
1: 121,489,810 (GRCm39) |
I200V |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,725,290 (GRCm39) |
M4288L |
probably damaging |
Het |
| F830045P16Rik |
A |
T |
2: 129,305,467 (GRCm39) |
N302K |
probably damaging |
Het |
| Gas1 |
T |
G |
13: 60,323,791 (GRCm39) |
D322A |
unknown |
Het |
| Gfm2 |
T |
A |
13: 97,279,608 (GRCm39) |
|
probably benign |
Het |
| Gm5592 |
G |
T |
7: 40,938,934 (GRCm39) |
V739L |
probably benign |
Het |
| Hbb-bh2 |
T |
A |
7: 103,489,416 (GRCm39) |
H45L |
probably benign |
Het |
| Ifit2 |
G |
T |
19: 34,551,445 (GRCm39) |
M328I |
probably benign |
Het |
| Igdcc4 |
T |
C |
9: 65,042,761 (GRCm39) |
V1237A |
probably benign |
Het |
| Kat2b |
G |
A |
17: 53,951,769 (GRCm39) |
|
probably null |
Het |
| Lmtk2 |
A |
G |
5: 144,112,697 (GRCm39) |
N1139S |
probably benign |
Het |
| Map1a |
G |
A |
2: 121,130,608 (GRCm39) |
A475T |
probably damaging |
Het |
| Map3k20 |
G |
A |
2: 72,214,468 (GRCm39) |
|
probably benign |
Het |
| Mga |
T |
C |
2: 119,762,261 (GRCm39) |
V1084A |
probably damaging |
Het |
| Msantd5f6 |
T |
C |
4: 73,320,047 (GRCm39) |
Y244C |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 69,926,720 (GRCm39) |
I5V |
probably benign |
Het |
| Or10a3m |
A |
T |
7: 108,313,366 (GRCm39) |
I269L |
probably benign |
Het |
| Or10ag56 |
A |
G |
2: 87,139,555 (GRCm39) |
I141V |
probably benign |
Het |
| Or10ag57 |
A |
T |
2: 87,218,924 (GRCm39) |
I292F |
possibly damaging |
Het |
| Or56b1 |
A |
G |
7: 104,285,555 (GRCm39) |
T225A |
probably benign |
Het |
| Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
| Or5v1 |
T |
C |
17: 37,810,382 (GRCm39) |
V280A |
possibly damaging |
Het |
| Osmr |
G |
T |
15: 6,854,014 (GRCm39) |
R565S |
probably benign |
Het |
| Pcolce |
G |
T |
5: 137,604,036 (GRCm39) |
Q344K |
probably benign |
Het |
| Psd2 |
C |
T |
18: 36,120,300 (GRCm39) |
T383I |
probably benign |
Het |
| Reg3a |
G |
A |
6: 78,360,553 (GRCm39) |
D164N |
probably damaging |
Het |
| Serpina3a |
A |
T |
12: 104,084,902 (GRCm39) |
D99V |
probably benign |
Het |
| Sgce |
G |
T |
6: 4,691,563 (GRCm39) |
Y301* |
probably null |
Het |
| Slc28a3 |
T |
C |
13: 58,714,064 (GRCm39) |
K434E |
probably benign |
Het |
| Slc30a3 |
A |
G |
5: 31,244,203 (GRCm39) |
F360L |
probably damaging |
Het |
| Tdpoz3 |
A |
T |
3: 93,733,550 (GRCm39) |
Y75F |
possibly damaging |
Het |
| Trim65 |
A |
G |
11: 116,018,529 (GRCm39) |
F249L |
probably benign |
Het |
| Tubgcp3 |
A |
T |
8: 12,689,634 (GRCm39) |
L544* |
probably null |
Het |
| Vit |
C |
T |
17: 78,842,121 (GRCm39) |
|
probably benign |
Het |
| Wdfy4 |
C |
A |
14: 32,824,637 (GRCm39) |
|
probably benign |
Het |
| Xpo6 |
T |
C |
7: 125,739,780 (GRCm39) |
K431E |
probably benign |
Het |
| Xrn1 |
T |
A |
9: 95,867,278 (GRCm39) |
Y545* |
probably null |
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 |
|
|
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 |
|
R8548:Prdm11
|
UTSW |
2 |
92,843,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACCAGCCATGAGAAGAAG -3'
(R):5'- TGGTAGGCTTGAGCTACATG -3'
Sequencing Primer
(F):5'- AAGAAGCCAGCTGACTTGTCTTG -3'
(R):5'- TAGGCTTGAGCTACATGCACAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation