Incidental Mutation 'E0370:Prdm11'
| ID |
206402 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prdm11
|
| Ensembl Gene |
ENSMUSG00000075028 |
| Gene Name |
PR domain containing 11 |
| Synonyms |
8030443D09Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.557)
|
| Stock # |
E0370 (G1)
|
| Quality Score |
153 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
92802363-92876512 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92810924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 225
(Y225C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136795
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111272]
[ENSMUST00000111274]
[ENSMUST00000178666]
|
| AlphaFold |
A2AGX3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111272
|
| SMART Domains |
Protein: ENSMUSP00000106903
Gene: ENSMUSG00000075028
| 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: Y225C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106905
Gene: ENSMUSG00000075028
AA Change: Y225C
| 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: ENSMUST00000178666
AA Change: Y225C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136795
Gene: ENSMUSG00000075028
AA Change: Y225C
| 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 |
0.9186 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.1%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544D05Rik |
TGCAGCGACTGGACGGCGGCA |
TGCA |
11: 70,507,252 (GRCm39) |
|
probably null |
Het |
| Aire |
T |
A |
10: 77,877,897 (GRCm39) |
N180I |
probably damaging |
Het |
| Asic3 |
G |
T |
5: 24,618,985 (GRCm39) |
L92F |
probably damaging |
Het |
| Birc6 |
G |
A |
17: 74,984,352 (GRCm39) |
D4455N |
probably damaging |
Het |
| Cd36 |
A |
T |
5: 17,990,747 (GRCm39) |
C464* |
probably null |
Het |
| Cdx1 |
A |
C |
18: 61,153,501 (GRCm39) |
I179S |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,406,441 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
T |
1: 34,288,552 (GRCm39) |
|
probably benign |
Het |
| Epb41l3 |
A |
G |
17: 69,581,799 (GRCm39) |
N580S |
possibly damaging |
Het |
| Hnrnpm |
A |
T |
17: 33,877,896 (GRCm39) |
|
probably benign |
Het |
| Katnip |
A |
G |
7: 125,449,474 (GRCm39) |
D846G |
probably benign |
Het |
| Map2 |
A |
T |
1: 66,455,883 (GRCm39) |
|
probably benign |
Het |
| Mapk11 |
T |
C |
15: 89,030,716 (GRCm39) |
D88G |
probably damaging |
Het |
| Mbd4 |
C |
T |
6: 115,826,116 (GRCm39) |
E271K |
possibly damaging |
Het |
| Mpp4 |
T |
G |
1: 59,178,917 (GRCm39) |
|
probably benign |
Het |
| Mtarc1 |
T |
C |
1: 184,527,425 (GRCm39) |
|
probably benign |
Het |
| Muc2 |
T |
C |
7: 141,282,598 (GRCm39) |
Y609H |
probably damaging |
Het |
| Or8b3b |
A |
T |
9: 38,583,857 (GRCm39) |
D307E |
probably damaging |
Het |
| Pex1 |
T |
A |
5: 3,681,614 (GRCm39) |
|
probably null |
Het |
| Psmc3 |
T |
A |
2: 90,885,463 (GRCm39) |
|
probably null |
Het |
| Slc26a8 |
A |
T |
17: 28,861,361 (GRCm39) |
D774E |
possibly damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,802,701 (GRCm39) |
|
probably null |
Het |
| Smc1b |
A |
G |
15: 85,011,782 (GRCm39) |
Y168H |
probably damaging |
Het |
| Steap1 |
T |
C |
5: 5,790,673 (GRCm39) |
R92G |
probably damaging |
Het |
| Tbx22 |
T |
C |
X: 106,728,759 (GRCm39) |
I430T |
probably benign |
Het |
| Tfap4 |
T |
A |
16: 4,377,334 (GRCm39) |
H16L |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,897,917 (GRCm39) |
D855G |
probably damaging |
Het |
| Trip13 |
A |
G |
13: 74,068,558 (GRCm39) |
|
probably benign |
Het |
| Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
| Vmn2r121 |
A |
G |
X: 123,037,617 (GRCm39) |
V801A |
probably benign |
Het |
| Wiz |
C |
T |
17: 32,574,092 (GRCm39) |
R935Q |
probably 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 |
|
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 |
|
R8548:Prdm11
|
UTSW |
2 |
92,843,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGCGAGTCACTTCACAATC -3'
(R):5'- ACAGCAGCTCTTCTTATGTGC -3'
Sequencing Primer
(F):5'- CAGTACTGACCTAGACTTGTGGAC -3'
(R):5'- GTGCCCACATACTTTAAGCTCTTGTG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation