Incidental Mutation 'IGL01526:Prdm11'
| ID |
89561 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01526
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
92802363-92876512 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92843102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 119
(V119A)
|
| 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: V71A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106903
Gene: ENSMUSG00000075028
AA Change: V71A
| 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: V119A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106905
Gene: ENSMUSG00000075028
AA Change: V119A
| 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: V119A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122809
Gene: ENSMUSG00000075028
AA Change: V119A
| 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: V119A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136795
Gene: ENSMUSG00000075028
AA Change: V119A
| Domain | Start | End | E-Value | Type |
|---|
|
SET
|
115 |
232 |
5.16e-2 |
SMART |
|
low complexity region
|
369 |
380 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500002C15Rik |
G |
T |
4: 155,818,628 (GRCm39) |
|
probably benign |
Het |
| 4933430I17Rik |
G |
T |
4: 62,450,858 (GRCm39) |
R107L |
possibly damaging |
Het |
| Acvr1 |
A |
T |
2: 58,348,997 (GRCm39) |
D388E |
probably benign |
Het |
| Art3 |
T |
C |
5: 92,562,199 (GRCm39) |
S354P |
probably damaging |
Het |
| Bpnt1 |
C |
A |
1: 185,077,591 (GRCm39) |
S102* |
probably null |
Het |
| Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
| Cfap65 |
A |
T |
1: 74,950,237 (GRCm39) |
S1171T |
probably damaging |
Het |
| Cracd |
T |
A |
5: 77,005,478 (GRCm39) |
M613K |
unknown |
Het |
| Csn2 |
T |
C |
5: 87,842,838 (GRCm39) |
H47R |
possibly damaging |
Het |
| Gm14496 |
T |
A |
2: 181,637,458 (GRCm39) |
D177E |
probably benign |
Het |
| Hmbs |
A |
G |
9: 44,250,845 (GRCm39) |
V126A |
possibly damaging |
Het |
| Ica1l |
A |
G |
1: 60,054,916 (GRCm39) |
M105T |
probably damaging |
Het |
| Morc2a |
G |
A |
11: 3,600,428 (GRCm39) |
E17K |
probably benign |
Het |
| Mroh8 |
T |
C |
2: 157,080,232 (GRCm39) |
|
probably benign |
Het |
| Mroh9 |
G |
T |
1: 162,883,172 (GRCm39) |
L436I |
probably damaging |
Het |
| Nup54 |
T |
C |
5: 92,565,334 (GRCm39) |
D461G |
probably benign |
Het |
| Or10ag2 |
A |
T |
2: 87,249,319 (GRCm39) |
D309V |
probably damaging |
Het |
| Or2t45 |
A |
G |
11: 58,669,123 (GRCm39) |
T57A |
probably benign |
Het |
| Pcid2 |
G |
A |
8: 13,135,319 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3b |
G |
T |
8: 35,851,872 (GRCm39) |
R237L |
probably benign |
Het |
| S100a7l2 |
T |
A |
3: 90,995,612 (GRCm39) |
|
probably benign |
Het |
| Serpina5 |
T |
A |
12: 104,068,149 (GRCm39) |
V70E |
probably damaging |
Het |
| Skap2 |
C |
T |
6: 51,884,894 (GRCm39) |
D249N |
probably benign |
Het |
| Slc22a29 |
A |
T |
19: 8,184,542 (GRCm39) |
|
probably benign |
Het |
| Slc4a1ap |
C |
A |
5: 31,685,571 (GRCm39) |
T283K |
possibly damaging |
Het |
| Slc6a21 |
T |
G |
7: 44,937,220 (GRCm39) |
I575S |
probably damaging |
Het |
| Smpd1 |
T |
G |
7: 105,203,982 (GRCm39) |
W82G |
probably benign |
Het |
| Snx14 |
T |
A |
9: 88,263,553 (GRCm39) |
M897L |
probably damaging |
Het |
| Tjp1 |
A |
G |
7: 64,972,406 (GRCm39) |
V586A |
probably damaging |
Het |
| Tmc8 |
T |
C |
11: 117,682,910 (GRCm39) |
|
probably benign |
Het |
| Trim34a |
A |
G |
7: 103,909,706 (GRCm39) |
Y298C |
probably damaging |
Het |
| Ube3c |
T |
C |
5: 29,872,960 (GRCm39) |
V1000A |
probably damaging |
Het |
|
| Other mutations in Prdm11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R8548:Prdm11
|
UTSW |
2 |
92,843,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation