Incidental Mutation 'R0590:Prdm15'
| ID |
55944 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prdm15
|
| Ensembl Gene |
ENSMUSG00000014039 |
| Gene Name |
PR domain containing 15 |
| Synonyms |
Zfp298, E130018M06Rik |
| MMRRC Submission |
038780-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0590 (G1)
|
| Quality Score |
211 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
97592667-97653050 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97598961 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 899
(I899T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095849]
[ENSMUST00000121584]
[ENSMUST00000142295]
|
| AlphaFold |
E9Q8T2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095849
AA Change: I925T
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000093533
Gene: ENSMUSG00000014039
AA Change: I925T
| Domain | Start | End | E-Value | Type |
|---|
|
SET
|
75 |
191 |
5.96e-1 |
SMART |
|
ZnF_C2H2
|
223 |
245 |
3.99e0 |
SMART |
|
low complexity region
|
290 |
303 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
402 |
424 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
434 |
457 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
468 |
488 |
1.88e2 |
SMART |
|
ZnF_C2H2
|
495 |
517 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
522 |
544 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
571 |
593 |
6.23e-2 |
SMART |
|
ZnF_C2H2
|
598 |
620 |
2.75e-3 |
SMART |
|
low complexity region
|
642 |
657 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
661 |
684 |
2.17e-1 |
SMART |
|
ZnF_C2H2
|
689 |
711 |
3.24e0 |
SMART |
|
ZnF_C2H2
|
725 |
747 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
753 |
775 |
5.67e-5 |
SMART |
|
ZnF_C2H2
|
781 |
803 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
809 |
831 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
837 |
859 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
865 |
888 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
894 |
917 |
5.06e-2 |
SMART |
|
low complexity region
|
948 |
959 |
N/A |
INTRINSIC |
|
low complexity region
|
1148 |
1170 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121584
AA Change: I899T
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113791
Gene: ENSMUSG00000014039
AA Change: I899T
| Domain | Start | End | E-Value | Type |
|---|
|
SET
|
49 |
165 |
5.96e-1 |
SMART |
|
ZnF_C2H2
|
197 |
219 |
3.99e0 |
SMART |
|
low complexity region
|
264 |
277 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
376 |
398 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
408 |
431 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
442 |
462 |
1.88e2 |
SMART |
|
ZnF_C2H2
|
469 |
491 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
496 |
518 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
545 |
567 |
6.23e-2 |
SMART |
|
ZnF_C2H2
|
572 |
594 |
2.75e-3 |
SMART |
|
low complexity region
|
616 |
631 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
635 |
658 |
2.17e-1 |
SMART |
|
ZnF_C2H2
|
663 |
685 |
3.24e0 |
SMART |
|
ZnF_C2H2
|
699 |
721 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
727 |
749 |
5.67e-5 |
SMART |
|
ZnF_C2H2
|
755 |
777 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
783 |
805 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
811 |
833 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
839 |
862 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
868 |
891 |
5.06e-2 |
SMART |
|
low complexity region
|
922 |
933 |
N/A |
INTRINSIC |
|
low complexity region
|
1122 |
1144 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126916
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131951
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136529
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142295
|
| SMART Domains |
Protein: ENSMUSP00000120497
Gene: ENSMUSG00000014039
| Domain | Start | End | E-Value | Type |
|---|
|
SET
|
49 |
165 |
5.96e-1 |
SMART |
|
low complexity region
|
230 |
243 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
342 |
364 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
369 |
392 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
403 |
423 |
1.88e2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231599
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231602
|
| Meta Mutation Damage Score |
0.1937 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.7%
- 20x: 95.7%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat2 |
C |
T |
4: 49,383,273 (GRCm39) |
M93I |
probably benign |
Het |
| Adamts16 |
T |
C |
13: 70,949,073 (GRCm39) |
D196G |
probably benign |
Het |
| Adhfe1 |
T |
A |
1: 9,618,378 (GRCm39) |
|
probably null |
Het |
| AI661453 |
A |
G |
17: 47,777,999 (GRCm39) |
|
probably benign |
Het |
| Apc |
G |
T |
18: 34,449,283 (GRCm39) |
E2026* |
probably null |
Het |
| Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
| Cad |
T |
C |
5: 31,219,575 (GRCm39) |
S688P |
probably damaging |
Het |
| Ccdc191 |
C |
T |
16: 43,751,704 (GRCm39) |
R345* |
probably null |
Het |
| Dcaf13 |
T |
A |
15: 39,008,480 (GRCm39) |
|
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,520,480 (GRCm39) |
D607G |
probably benign |
Het |
| Fhip1a |
T |
C |
3: 85,579,683 (GRCm39) |
R841G |
probably benign |
Het |
| Gli1 |
G |
T |
10: 127,167,432 (GRCm39) |
A607E |
possibly damaging |
Het |
| Gls |
G |
A |
1: 52,251,534 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
A |
T |
11: 57,180,235 (GRCm39) |
Q728H |
probably damaging |
Het |
| Hcrtr1 |
A |
G |
4: 130,029,487 (GRCm39) |
L198P |
probably damaging |
Het |
| Ifngr1 |
T |
A |
10: 19,479,690 (GRCm39) |
|
probably benign |
Het |
| Ipo5 |
T |
C |
14: 121,181,769 (GRCm39) |
V954A |
possibly damaging |
Het |
| Kcnh5 |
G |
T |
12: 75,012,035 (GRCm39) |
A628D |
probably damaging |
Het |
| Kif14 |
T |
C |
1: 136,410,210 (GRCm39) |
S646P |
probably damaging |
Het |
| Ksr1 |
A |
G |
11: 78,935,966 (GRCm39) |
S133P |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,027,302 (GRCm39) |
M7143V |
probably damaging |
Het |
| Nelfa |
G |
A |
5: 34,059,169 (GRCm39) |
P229S |
probably damaging |
Het |
| Nfatc2 |
T |
C |
2: 168,413,119 (GRCm39) |
T169A |
probably damaging |
Het |
| Nr1h4 |
A |
G |
10: 89,292,429 (GRCm39) |
Y398H |
probably damaging |
Het |
| Nrcam |
A |
G |
12: 44,610,815 (GRCm39) |
E511G |
probably damaging |
Het |
| Ocstamp |
T |
A |
2: 165,239,671 (GRCm39) |
R172W |
probably damaging |
Het |
| Or10ag60 |
A |
G |
2: 87,438,338 (GRCm39) |
E202G |
probably damaging |
Het |
| Or8d1 |
T |
A |
9: 38,766,766 (GRCm39) |
M136K |
probably damaging |
Het |
| Or8g19 |
T |
C |
9: 39,056,017 (GRCm39) |
V207A |
probably benign |
Het |
| Phf14 |
G |
A |
6: 11,961,577 (GRCm39) |
V405I |
possibly damaging |
Het |
| Plk5 |
G |
A |
10: 80,196,057 (GRCm39) |
R238H |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,465,792 (GRCm39) |
E1240G |
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,376,381 (GRCm39) |
N486S |
probably benign |
Het |
| Rlf |
A |
G |
4: 121,028,030 (GRCm39) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 88,997,759 (GRCm39) |
S255P |
probably damaging |
Het |
| Rusf1 |
A |
G |
7: 127,896,642 (GRCm39) |
L134P |
probably damaging |
Het |
| Sema6c |
A |
G |
3: 95,079,934 (GRCm39) |
K711E |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,021,237 (GRCm39) |
|
probably benign |
Het |
| Trim36 |
T |
G |
18: 46,305,643 (GRCm39) |
S435R |
probably benign |
Het |
| Ucp1 |
A |
G |
8: 84,018,232 (GRCm39) |
|
probably benign |
Het |
| Vmn1r17 |
T |
C |
6: 57,337,999 (GRCm39) |
Y122C |
probably benign |
Het |
| Vmn1r23 |
A |
G |
6: 57,903,349 (GRCm39) |
V143A |
probably benign |
Het |
| Wdfy4 |
T |
A |
14: 32,763,131 (GRCm39) |
Q2166L |
probably benign |
Het |
| Zc3h7b |
C |
T |
15: 81,661,199 (GRCm39) |
T346M |
possibly damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,467,693 (GRCm39) |
V2617D |
probably damaging |
Het |
|
| Other mutations in Prdm15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00973:Prdm15
|
APN |
16 |
97,607,367 (GRCm39) |
splice site |
probably benign |
|
|
IGL01325:Prdm15
|
APN |
16 |
97,607,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02195:Prdm15
|
APN |
16 |
97,637,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02473:Prdm15
|
APN |
16 |
97,638,805 (GRCm39) |
splice site |
probably null |
|
|
IGL02502:Prdm15
|
APN |
16 |
97,640,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02604:Prdm15
|
APN |
16 |
97,623,142 (GRCm39) |
missense |
probably benign |
|
|
R0408:Prdm15
|
UTSW |
16 |
97,636,986 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0437:Prdm15
|
UTSW |
16 |
97,613,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0497:Prdm15
|
UTSW |
16 |
97,595,534 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0630:Prdm15
|
UTSW |
16 |
97,638,907 (GRCm39) |
missense |
probably null |
1.00 |
|
R0661:Prdm15
|
UTSW |
16 |
97,630,882 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0718:Prdm15
|
UTSW |
16 |
97,613,833 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1144:Prdm15
|
UTSW |
16 |
97,609,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1240:Prdm15
|
UTSW |
16 |
97,638,800 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1605:Prdm15
|
UTSW |
16 |
97,640,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1908:Prdm15
|
UTSW |
16 |
97,638,885 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2081:Prdm15
|
UTSW |
16 |
97,604,980 (GRCm39) |
nonsense |
probably null |
|
|
R2208:Prdm15
|
UTSW |
16 |
97,600,464 (GRCm39) |
splice site |
probably null |
|
|
R3787:Prdm15
|
UTSW |
16 |
97,598,945 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3890:Prdm15
|
UTSW |
16 |
97,600,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4326:Prdm15
|
UTSW |
16 |
97,607,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4728:Prdm15
|
UTSW |
16 |
97,622,986 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4952:Prdm15
|
UTSW |
16 |
97,607,277 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4998:Prdm15
|
UTSW |
16 |
97,595,689 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5225:Prdm15
|
UTSW |
16 |
97,609,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5505:Prdm15
|
UTSW |
16 |
97,618,183 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5628:Prdm15
|
UTSW |
16 |
97,600,823 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5721:Prdm15
|
UTSW |
16 |
97,608,296 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5873:Prdm15
|
UTSW |
16 |
97,609,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5980:Prdm15
|
UTSW |
16 |
97,613,770 (GRCm39) |
nonsense |
probably null |
|
|
R6311:Prdm15
|
UTSW |
16 |
97,600,255 (GRCm39) |
missense |
probably null |
0.08 |
|
R6540:Prdm15
|
UTSW |
16 |
97,637,005 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7053:Prdm15
|
UTSW |
16 |
97,595,742 (GRCm39) |
nonsense |
probably null |
|
|
R7241:Prdm15
|
UTSW |
16 |
97,596,941 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7468:Prdm15
|
UTSW |
16 |
97,636,842 (GRCm39) |
nonsense |
probably null |
|
|
R7473:Prdm15
|
UTSW |
16 |
97,623,046 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7762:Prdm15
|
UTSW |
16 |
97,619,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7911:Prdm15
|
UTSW |
16 |
97,613,792 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8053:Prdm15
|
UTSW |
16 |
97,636,807 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8127:Prdm15
|
UTSW |
16 |
97,638,910 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8213:Prdm15
|
UTSW |
16 |
97,608,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8708:Prdm15
|
UTSW |
16 |
97,618,066 (GRCm39) |
missense |
unknown |
|
|
R8768:Prdm15
|
UTSW |
16 |
97,638,888 (GRCm39) |
missense |
probably benign |
|
|
R9000:Prdm15
|
UTSW |
16 |
97,595,470 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9513:Prdm15
|
UTSW |
16 |
97,607,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9583:Prdm15
|
UTSW |
16 |
97,623,142 (GRCm39) |
missense |
probably benign |
|
|
RF002:Prdm15
|
UTSW |
16 |
97,600,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF021:Prdm15
|
UTSW |
16 |
97,609,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Prdm15
|
UTSW |
16 |
97,618,159 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACCAAATCCCGGTGAGACTATGC -3'
(R):5'- GCCTTTATCTGAGGACAGGAACCAC -3'
Sequencing Primer
(F):5'- CCCGGTGAGACTATGCTGATG -3'
(R):5'- ATGATGCCCTAGAGAGCATTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation