Incidental Mutation 'IGL00473:Prdm6'
| ID |
3319 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prdm6
|
| Ensembl Gene |
ENSMUSG00000069378 |
| Gene Name |
PR domain containing 6 |
| Synonyms |
LOC225518, PRISM |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.852)
|
| Stock # |
IGL00473
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
53597027-53708976 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 53673357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 172
(F172L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091900]
[ENSMUST00000115399]
[ENSMUST00000154557]
|
| AlphaFold |
Q3UZD5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091900
AA Change: F373L
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000089513
Gene: ENSMUSG00000069378
AA Change: F373L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
77 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
166 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
236 |
N/A |
INTRINSIC |
|
SET
|
249 |
372 |
1.98e-3 |
SMART |
|
ZnF_C2H2
|
474 |
494 |
1.24e2 |
SMART |
|
ZnF_C2H2
|
502 |
524 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
530 |
552 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
558 |
578 |
1.2e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115399
AA Change: F172L
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000111057
Gene: ENSMUSG00000069378
AA Change: F172L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
35 |
N/A |
INTRINSIC |
|
SET
|
48 |
171 |
1.98e-3 |
SMART |
|
ZnF_C2H2
|
273 |
293 |
1.24e2 |
SMART |
|
ZnF_C2H2
|
301 |
323 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
329 |
351 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
357 |
377 |
1.2e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154557
AA Change: F212L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000114644
Gene: ENSMUSG00000069378
AA Change: F212L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
68 |
75 |
N/A |
INTRINSIC |
|
SET
|
88 |
211 |
1.98e-3 |
SMART |
|
ZnF_C2H2
|
313 |
333 |
1.24e2 |
SMART |
|
ZnF_C2H2
|
341 |
363 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
369 |
391 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
397 |
417 |
1.2e1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit cardiovascular development defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arcn1 |
A |
G |
9: 44,668,444 (GRCm39) |
V264A |
probably benign |
Het |
| Asap1 |
T |
C |
15: 64,045,064 (GRCm39) |
|
probably benign |
Het |
| Brpf1 |
A |
C |
6: 113,293,645 (GRCm39) |
Q571H |
probably damaging |
Het |
| C9orf72 |
C |
T |
4: 35,213,616 (GRCm39) |
G178E |
possibly damaging |
Het |
| Creb3 |
G |
T |
4: 43,565,517 (GRCm39) |
R232L |
probably benign |
Het |
| Cst5 |
G |
T |
2: 149,247,293 (GRCm39) |
S3I |
unknown |
Het |
| Cyp4a14 |
A |
G |
4: 115,347,149 (GRCm39) |
|
probably benign |
Het |
| Daxx |
C |
T |
17: 34,130,581 (GRCm39) |
Q199* |
probably null |
Het |
| Eml5 |
A |
G |
12: 98,771,751 (GRCm39) |
|
probably benign |
Het |
| Gbp6 |
T |
A |
5: 105,422,145 (GRCm39) |
K520* |
probably null |
Het |
| Gcfc2 |
T |
A |
6: 81,921,355 (GRCm39) |
C454S |
probably damaging |
Het |
| Gm9894 |
T |
A |
13: 67,913,236 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr15 |
C |
T |
16: 58,538,441 (GRCm39) |
C216Y |
probably damaging |
Het |
| Gzmn |
T |
C |
14: 56,404,436 (GRCm39) |
K134E |
probably benign |
Het |
| Kat2b |
T |
G |
17: 53,970,651 (GRCm39) |
I679S |
possibly damaging |
Het |
| Klhl10 |
A |
G |
11: 100,347,240 (GRCm39) |
Y478C |
probably damaging |
Het |
| Mapt |
A |
G |
11: 104,178,009 (GRCm39) |
D54G |
probably damaging |
Het |
| Mocs1 |
A |
G |
17: 49,740,229 (GRCm39) |
E52G |
probably benign |
Het |
| Plekhn1 |
T |
G |
4: 156,307,820 (GRCm39) |
T369P |
probably damaging |
Het |
| Prl7b1 |
A |
T |
13: 27,788,573 (GRCm39) |
V94D |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 156,975,387 (GRCm39) |
T1116A |
probably benign |
Het |
| Rreb1 |
A |
T |
13: 38,114,767 (GRCm39) |
K709* |
probably null |
Het |
| Ruvbl1 |
A |
T |
6: 88,468,550 (GRCm39) |
R357W |
probably damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,273,579 (GRCm39) |
L973P |
probably damaging |
Het |
| Srp72 |
A |
G |
5: 77,132,023 (GRCm39) |
Y234C |
probably damaging |
Het |
| Synrg |
G |
A |
11: 83,930,072 (GRCm39) |
M1070I |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,462,512 (GRCm39) |
I889K |
possibly damaging |
Het |
| Zbtb40 |
G |
A |
4: 136,714,651 (GRCm39) |
T1046M |
probably damaging |
Het |
| Zfp978 |
A |
G |
4: 147,475,317 (GRCm39) |
N288S |
probably benign |
Het |
| Zfpm2 |
A |
T |
15: 40,962,683 (GRCm39) |
K247M |
probably damaging |
Het |
|
| Other mutations in Prdm6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00743:Prdm6
|
APN |
18 |
53,673,300 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02183:Prdm6
|
APN |
18 |
53,597,749 (GRCm39) |
unclassified |
probably benign |
|
|
R1720:Prdm6
|
UTSW |
18 |
53,673,272 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1879:Prdm6
|
UTSW |
18 |
53,701,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1950:Prdm6
|
UTSW |
18 |
53,669,796 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1962:Prdm6
|
UTSW |
18 |
53,701,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2022:Prdm6
|
UTSW |
18 |
53,598,031 (GRCm39) |
unclassified |
probably benign |
|
|
R3973:Prdm6
|
UTSW |
18 |
53,673,278 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3974:Prdm6
|
UTSW |
18 |
53,673,278 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3975:Prdm6
|
UTSW |
18 |
53,673,278 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3976:Prdm6
|
UTSW |
18 |
53,673,278 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4012:Prdm6
|
UTSW |
18 |
53,673,390 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5144:Prdm6
|
UTSW |
18 |
53,598,110 (GRCm39) |
unclassified |
probably benign |
|
|
R5640:Prdm6
|
UTSW |
18 |
53,669,813 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6113:Prdm6
|
UTSW |
18 |
53,606,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6701:Prdm6
|
UTSW |
18 |
53,669,751 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6747:Prdm6
|
UTSW |
18 |
53,598,118 (GRCm39) |
unclassified |
probably benign |
|
|
R6784:Prdm6
|
UTSW |
18 |
53,669,698 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7363:Prdm6
|
UTSW |
18 |
53,598,199 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8365:Prdm6
|
UTSW |
18 |
53,685,137 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8469:Prdm6
|
UTSW |
18 |
53,597,758 (GRCm39) |
unclassified |
probably benign |
|
|
R8827:Prdm6
|
UTSW |
18 |
53,701,267 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8977:Prdm6
|
UTSW |
18 |
53,701,373 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9132:Prdm6
|
UTSW |
18 |
53,598,019 (GRCm39) |
missense |
unknown |
|
|
R9159:Prdm6
|
UTSW |
18 |
53,598,019 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation