Incidental Mutation 'R6442:Prdm11'
| ID |
519042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prdm11
|
| Ensembl Gene |
ENSMUSG00000075028 |
| Gene Name |
PR domain containing 11 |
| Synonyms |
8030443D09Rik |
| MMRRC Submission |
044580-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.557)
|
| Stock # |
R6442 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
92802363-92876512 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 92805990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 320
(A320V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136795
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111274]
[ENSMUST00000178666]
|
| AlphaFold |
A2AGX3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111274
AA Change: A320V
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106905
Gene: ENSMUSG00000075028
AA Change: A320V
| Domain | Start | End | E-Value | Type |
|---|
|
SET
|
115 |
232 |
5.16e-2 |
SMART |
|
low complexity region
|
369 |
380 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178666
AA Change: A320V
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000136795
Gene: ENSMUSG00000075028
AA Change: A320V
| 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 |
0.1200 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp9a |
T |
C |
2: 168,491,481 (GRCm39) |
T695A |
probably benign |
Het |
| Btla |
A |
G |
16: 45,044,821 (GRCm39) |
N36D |
probably benign |
Het |
| Btla |
T |
C |
16: 45,070,713 (GRCm39) |
V224A |
possibly damaging |
Het |
| Cep126 |
T |
C |
9: 8,100,564 (GRCm39) |
N657D |
probably benign |
Het |
| Cops3 |
T |
A |
11: 59,718,780 (GRCm39) |
K171N |
probably benign |
Het |
| Crocc2 |
A |
G |
1: 93,112,775 (GRCm39) |
R193G |
probably benign |
Het |
| Dis3l |
T |
C |
9: 64,214,837 (GRCm39) |
I911V |
probably benign |
Het |
| Dpp6 |
G |
A |
5: 27,923,507 (GRCm39) |
|
probably null |
Het |
| Efcab5 |
A |
T |
11: 76,996,260 (GRCm39) |
Y1100* |
probably null |
Het |
| Fcgbpl1 |
C |
T |
7: 27,843,611 (GRCm39) |
T833I |
possibly damaging |
Het |
| Galnt10 |
A |
G |
11: 57,656,448 (GRCm39) |
T211A |
probably benign |
Het |
| Gdf9 |
A |
G |
11: 53,324,515 (GRCm39) |
T95A |
probably benign |
Het |
| Gm826 |
T |
A |
2: 160,169,328 (GRCm39) |
|
probably benign |
Het |
| Hsd17b6 |
C |
T |
10: 127,829,636 (GRCm39) |
|
probably null |
Het |
| Hyal4 |
A |
G |
6: 24,765,849 (GRCm39) |
N401S |
probably benign |
Het |
| Itga8 |
C |
T |
2: 12,234,954 (GRCm39) |
V435I |
probably benign |
Het |
| Nr1h5 |
G |
A |
3: 102,848,427 (GRCm39) |
P418L |
probably damaging |
Het |
| Or3a4 |
G |
A |
11: 73,945,505 (GRCm39) |
R27W |
probably benign |
Het |
| Or4f15 |
G |
A |
2: 111,813,874 (GRCm39) |
P182S |
probably damaging |
Het |
| Or4n4 |
T |
G |
14: 50,518,826 (GRCm39) |
K295Q |
probably damaging |
Het |
| Or6c214 |
C |
A |
10: 129,591,277 (GRCm39) |
G14V |
probably damaging |
Het |
| Or9i14 |
T |
C |
19: 13,792,992 (GRCm39) |
|
probably benign |
Het |
| Ptpn5 |
T |
C |
7: 46,732,831 (GRCm39) |
|
probably null |
Het |
| Reln |
T |
A |
5: 22,137,774 (GRCm39) |
I2473L |
probably benign |
Het |
| Rmnd5a |
A |
T |
6: 71,371,659 (GRCm39) |
C180* |
probably null |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sapcd2 |
T |
A |
2: 25,266,134 (GRCm39) |
|
probably benign |
Het |
| Sec24b |
A |
G |
3: 129,790,350 (GRCm39) |
L462S |
probably damaging |
Het |
| Slc26a9 |
A |
T |
1: 131,686,555 (GRCm39) |
Y425F |
possibly damaging |
Het |
| Sult1b1 |
T |
C |
5: 87,682,912 (GRCm39) |
D11G |
probably benign |
Het |
| Tgs1 |
T |
A |
4: 3,604,760 (GRCm39) |
Y727* |
probably null |
Het |
| Tmem80 |
T |
C |
7: 140,915,839 (GRCm39) |
V83A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,551,978 (GRCm39) |
T31220A |
probably benign |
Het |
| Usp46 |
A |
T |
5: 74,177,377 (GRCm39) |
D167E |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,805,046 (GRCm39) |
D22V |
possibly damaging |
Het |
| Zswim5 |
C |
A |
4: 116,808,202 (GRCm39) |
P262Q |
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 |
|
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 |
|
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'- CAGGCGAATGCAGTTAGGAC -3'
(R):5'- CTGAGCAAGCCCTGGAAAAC -3'
Sequencing Primer
(F):5'- CAGCCTTGAATGATGTAGGCTCC -3'
(R):5'- TGGAAAACCCAGAAGACCTAAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation