Incidental Mutation 'R8365:Prdm6'
| ID |
646158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prdm6
|
| Ensembl Gene |
ENSMUSG00000069378 |
| Gene Name |
PR domain containing 6 |
| Synonyms |
LOC225518, PRISM |
| MMRRC Submission |
067736-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.852)
|
| Stock # |
R8365 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
53597027-53708976 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53685137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 392
(V392A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089513
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091900]
[ENSMUST00000115398]
[ENSMUST00000115399]
[ENSMUST00000154557]
|
| AlphaFold |
Q3UZD5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091900
AA Change: V392A
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000089513
Gene: ENSMUSG00000069378
AA Change: V392A
| 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: ENSMUST00000115398
|
| SMART Domains |
Protein: ENSMUSP00000111056
Gene: ENSMUSG00000069378
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
82 |
102 |
1.24e2 |
SMART |
|
ZnF_C2H2
|
110 |
132 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
138 |
160 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
166 |
186 |
1.2e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115399
AA Change: V191A
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000111057
Gene: ENSMUSG00000069378
AA Change: V191A
| 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: V231A
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000114644
Gene: ENSMUSG00000069378
AA Change: V231A
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,557,918 (GRCm39) |
C79* |
probably null |
Het |
| Abcc9 |
A |
T |
6: 142,544,798 (GRCm39) |
S1430T |
probably benign |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Ankrd17 |
T |
C |
5: 90,398,378 (GRCm39) |
K1724R |
possibly damaging |
Het |
| Brf2 |
A |
G |
8: 27,618,566 (GRCm39) |
S13P |
possibly damaging |
Het |
| Cfap46 |
T |
A |
7: 139,263,000 (GRCm39) |
K18* |
probably null |
Het |
| Cym |
T |
G |
3: 107,120,182 (GRCm39) |
I306L |
probably benign |
Het |
| Cyp2c66 |
A |
T |
19: 39,165,048 (GRCm39) |
H343L |
probably benign |
Het |
| Cyp2d34 |
T |
C |
15: 82,504,874 (GRCm39) |
Y62C |
probably damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,172,570 (GRCm39) |
S533P |
probably benign |
Het |
| Dnajc10 |
A |
G |
2: 80,176,902 (GRCm39) |
Y619C |
probably damaging |
Het |
| Dnal1 |
T |
A |
12: 84,178,163 (GRCm39) |
|
probably null |
Het |
| Eif4g1 |
T |
A |
16: 20,502,277 (GRCm39) |
M914K |
probably damaging |
Het |
| Epb41l2 |
C |
A |
10: 25,317,584 (GRCm39) |
Q34K |
probably benign |
Het |
| Esyt1 |
T |
G |
10: 128,352,422 (GRCm39) |
N730H |
possibly damaging |
Het |
| Fbxo15 |
T |
G |
18: 84,980,739 (GRCm39) |
I238S |
probably damaging |
Het |
| Foxn3 |
T |
C |
12: 99,307,727 (GRCm39) |
K204E |
probably damaging |
Het |
| Gtf2i |
G |
A |
5: 134,303,434 (GRCm39) |
S279L |
probably benign |
Het |
| Hhatl |
A |
G |
9: 121,618,931 (GRCm39) |
M67T |
probably damaging |
Het |
| Itpkc |
C |
A |
7: 26,911,777 (GRCm39) |
R598L |
probably damaging |
Het |
| Itprid2 |
T |
C |
2: 79,492,689 (GRCm39) |
S1079P |
probably damaging |
Het |
| Jkampl |
A |
T |
6: 73,446,329 (GRCm39) |
N73K |
probably benign |
Het |
| Kctd18 |
A |
T |
1: 57,998,311 (GRCm39) |
I263N |
probably damaging |
Het |
| Map1a |
T |
A |
2: 121,138,528 (GRCm39) |
M3002K |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,866,709 (GRCm39) |
S588T |
possibly damaging |
Het |
| Pcdh8 |
T |
A |
14: 80,008,426 (GRCm39) |
I46F |
probably damaging |
Het |
| Ptprt |
T |
A |
2: 161,743,451 (GRCm39) |
I497F |
probably benign |
Het |
| Rorc |
A |
G |
3: 94,282,366 (GRCm39) |
H22R |
probably benign |
Het |
| Scaf8 |
A |
G |
17: 3,246,241 (GRCm39) |
I777V |
possibly damaging |
Het |
| Shroom1 |
A |
T |
11: 53,356,468 (GRCm39) |
R444* |
probably null |
Het |
| Srcap |
C |
T |
7: 127,148,869 (GRCm39) |
T2030I |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,793,695 (GRCm39) |
S94P |
probably damaging |
Het |
| Srsf12 |
C |
G |
4: 33,226,070 (GRCm39) |
P111R |
probably damaging |
Het |
| Ttc27 |
C |
T |
17: 75,054,669 (GRCm39) |
T325I |
probably damaging |
Het |
| Ucp1 |
A |
C |
8: 84,020,628 (GRCm39) |
H146P |
probably damaging |
Het |
| Vmn1r167 |
A |
T |
7: 23,204,200 (GRCm39) |
I272N |
probably benign |
Het |
| Vmn2r1 |
T |
C |
3: 63,994,034 (GRCm39) |
S127P |
possibly damaging |
Het |
| Vtcn1 |
A |
G |
3: 100,791,145 (GRCm39) |
D61G |
probably benign |
Het |
| Zfp994 |
A |
T |
17: 22,420,227 (GRCm39) |
C241S |
probably damaging |
Het |
|
| Other mutations in Prdm6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00473:Prdm6
|
APN |
18 |
53,673,357 (GRCm39) |
missense |
probably benign |
0.08 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCTGAGCATATACTAGTTGC -3'
(R):5'- GGACCCTCTGATTCTTCACG -3'
Sequencing Primer
(F):5'- GCTTAATAAACTGCCACTAGATGAG -3'
(R):5'- CTCTGATTCTTCACGTTGATTTGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation