Incidental Mutation 'R5505:Prdm15'
ID |
486826 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prdm15
|
Ensembl Gene |
ENSMUSG00000014039 |
Gene Name |
PR domain containing 15 |
Synonyms |
Zfp298, E130018M06Rik |
MMRRC Submission |
043066-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5505 (G1)
|
Quality Score |
31 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
97592667-97653050 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 97618183 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 325
(H325L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120497
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095849]
[ENSMUST00000121584]
[ENSMUST00000142295]
|
AlphaFold |
E9Q8T2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095849
AA Change: H385L
PolyPhen 2
Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000093533 Gene: ENSMUSG00000014039 AA Change: H385L
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: H359L
PolyPhen 2
Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000113791 Gene: ENSMUSG00000014039 AA Change: H359L
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: ENSMUST00000128917
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142295
AA Change: H325L
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000120497 Gene: ENSMUSG00000014039 AA Change: H325L
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 |
|
Meta Mutation Damage Score |
0.1921 |
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.9%
|
Validation Efficiency |
98% (47/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb8 |
T |
A |
5: 24,606,036 (GRCm39) |
D240E |
probably damaging |
Het |
Alpk3 |
G |
A |
7: 80,728,309 (GRCm39) |
E480K |
possibly damaging |
Het |
Arhgap20 |
A |
G |
9: 51,750,248 (GRCm39) |
E372G |
probably damaging |
Het |
Atp23 |
G |
T |
10: 126,723,499 (GRCm39) |
A201D |
probably damaging |
Het |
Bpifb1 |
A |
G |
2: 154,046,699 (GRCm39) |
D73G |
probably benign |
Het |
Ccdc7a |
A |
G |
8: 129,706,655 (GRCm39) |
S325P |
possibly damaging |
Het |
Cckar |
A |
G |
5: 53,860,410 (GRCm39) |
Y140H |
probably damaging |
Het |
Cd46 |
A |
T |
1: 194,767,688 (GRCm39) |
D124E |
possibly damaging |
Het |
Cep290 |
T |
C |
10: 100,335,048 (GRCm39) |
|
probably null |
Het |
Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
Eif2ak1 |
T |
C |
5: 143,803,745 (GRCm39) |
S34P |
probably benign |
Het |
Enah |
T |
A |
1: 181,734,018 (GRCm39) |
|
probably benign |
Het |
Gad2 |
C |
G |
2: 22,514,845 (GRCm39) |
L108V |
probably benign |
Het |
Gpr22 |
T |
C |
12: 31,759,724 (GRCm39) |
I133V |
probably damaging |
Het |
Hdac4 |
T |
C |
1: 91,903,187 (GRCm39) |
T13A |
probably benign |
Het |
Ighv1-4 |
A |
G |
12: 114,451,057 (GRCm39) |
V17A |
possibly damaging |
Het |
Ints8 |
T |
A |
4: 11,221,143 (GRCm39) |
Q744L |
probably benign |
Het |
Lrit3 |
C |
T |
3: 129,585,087 (GRCm39) |
V224I |
possibly damaging |
Het |
Mgat4a |
T |
C |
1: 37,535,035 (GRCm39) |
I108V |
probably benign |
Het |
Mmp9 |
T |
C |
2: 164,795,528 (GRCm39) |
I682T |
probably benign |
Het |
Myh7b |
G |
A |
2: 155,474,592 (GRCm39) |
A1742T |
probably benign |
Het |
Nlrp12 |
C |
T |
7: 3,298,015 (GRCm39) |
G52D |
probably damaging |
Het |
Or5t9 |
T |
C |
2: 86,659,845 (GRCm39) |
F250L |
possibly damaging |
Het |
Pcnx1 |
T |
C |
12: 81,996,927 (GRCm39) |
L941P |
probably damaging |
Het |
Pla2g4e |
T |
C |
2: 120,075,256 (GRCm39) |
R45G |
probably benign |
Het |
Plcz1 |
C |
G |
6: 139,961,942 (GRCm39) |
G203A |
probably damaging |
Het |
Poldip2 |
A |
G |
11: 78,406,001 (GRCm39) |
T76A |
probably benign |
Het |
Ralyl |
A |
T |
3: 13,841,980 (GRCm39) |
I39F |
probably damaging |
Het |
Rnf220 |
A |
C |
4: 117,153,288 (GRCm39) |
|
probably benign |
Het |
Rnpc3 |
T |
C |
3: 113,409,102 (GRCm39) |
K318E |
probably damaging |
Het |
Rsbn1 |
T |
A |
3: 103,836,259 (GRCm39) |
N432K |
probably damaging |
Het |
Sh3yl1 |
T |
A |
12: 30,992,072 (GRCm39) |
Y176N |
probably damaging |
Het |
Slc25a30 |
G |
A |
14: 76,000,789 (GRCm39) |
L272F |
probably damaging |
Het |
Spag1 |
T |
C |
15: 36,234,772 (GRCm39) |
V844A |
probably damaging |
Het |
Srsf5 |
T |
C |
12: 80,995,857 (GRCm39) |
|
probably benign |
Het |
Tle2 |
T |
A |
10: 81,417,574 (GRCm39) |
D223E |
probably benign |
Het |
Tmem192 |
A |
G |
8: 65,416,898 (GRCm39) |
E39G |
possibly damaging |
Het |
Trpc6 |
T |
A |
9: 8,626,736 (GRCm39) |
L362H |
probably damaging |
Het |
Tuba4a |
A |
G |
1: 75,193,060 (GRCm39) |
Y185H |
probably damaging |
Het |
Uba6 |
A |
G |
5: 86,268,405 (GRCm39) |
V941A |
probably benign |
Het |
Vmn2r35 |
A |
T |
7: 7,789,479 (GRCm39) |
Y753N |
probably damaging |
Het |
Zfp941 |
C |
T |
7: 140,391,830 (GRCm39) |
V510I |
probably benign |
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 |
R0590:Prdm15
|
UTSW |
16 |
97,598,961 (GRCm39) |
missense |
possibly damaging |
0.95 |
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 |
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'- AAACGTGAGGCCTCTGTCTG -3'
(R):5'- TCATAGCTGGGAAATGTGGCTG -3'
Sequencing Primer
(F):5'- ATGGACACACACCTTCTTGG -3'
(R):5'- AAATGTGGCTGATGAGCTTTC -3'
|
Posted On |
2017-08-18 |