Incidental Mutation 'R3890:Prdm15'
ID |
310369 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prdm15
|
Ensembl Gene |
ENSMUSG00000014039 |
Gene Name |
PR domain containing 15 |
Synonyms |
Zfp298, E130018M06Rik |
MMRRC Submission |
040802-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3890 (G1)
|
Quality Score |
218 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
97592667-97653050 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 97600771 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 829
(H829R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113791
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095849]
[ENSMUST00000121584]
[ENSMUST00000142295]
|
AlphaFold |
E9Q8T2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095849
AA Change: H855R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000093533 Gene: ENSMUSG00000014039 AA Change: H855R
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 |
probably damaging
Transcript: ENSMUST00000121584
AA Change: H829R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000113791 Gene: ENSMUSG00000014039 AA Change: H829R
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: ENSMUST00000231602
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231599
|
Meta Mutation Damage Score |
0.9523 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
98% (60/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700029H14Rik |
T |
C |
8: 13,604,700 (GRCm39) |
Y201C |
probably damaging |
Het |
Adam10 |
A |
G |
9: 70,676,136 (GRCm39) |
T624A |
probably benign |
Het |
Atf2 |
T |
C |
2: 73,693,557 (GRCm39) |
S2G |
probably damaging |
Het |
Atf7ip |
T |
C |
6: 136,564,043 (GRCm39) |
V762A |
possibly damaging |
Het |
Cacna1e |
C |
T |
1: 154,359,299 (GRCm39) |
R265Q |
probably damaging |
Het |
Cckbr |
A |
C |
7: 105,075,376 (GRCm39) |
T49P |
probably benign |
Het |
Clip2 |
T |
C |
5: 134,551,847 (GRCm39) |
K92E |
probably damaging |
Het |
Clrn3 |
T |
C |
7: 135,120,194 (GRCm39) |
T131A |
possibly damaging |
Het |
Cntrl |
T |
G |
2: 35,060,492 (GRCm39) |
C1342G |
probably benign |
Het |
Def8 |
T |
C |
8: 124,185,083 (GRCm39) |
|
probably benign |
Het |
Dennd4a |
T |
C |
9: 64,779,310 (GRCm39) |
S598P |
probably damaging |
Het |
Deup1 |
A |
G |
9: 15,511,009 (GRCm39) |
Y257H |
probably damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Ect2 |
T |
C |
3: 27,192,689 (GRCm39) |
D387G |
probably damaging |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Fmo4 |
A |
T |
1: 162,621,624 (GRCm39) |
I529N |
probably benign |
Het |
Frs3 |
A |
G |
17: 48,014,360 (GRCm39) |
D351G |
probably damaging |
Het |
Gcat |
T |
A |
15: 78,921,376 (GRCm39) |
V378D |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,510,946 (GRCm39) |
D3592E |
probably damaging |
Het |
Hspa4l |
A |
T |
3: 40,736,026 (GRCm39) |
Q570L |
possibly damaging |
Het |
Ifi213 |
A |
G |
1: 173,394,822 (GRCm39) |
I571T |
probably benign |
Het |
Lsamp |
T |
C |
16: 39,805,054 (GRCm39) |
V11A |
probably benign |
Het |
Mettl1 |
T |
C |
10: 126,880,998 (GRCm39) |
|
probably null |
Het |
Mettl15 |
A |
G |
2: 109,021,924 (GRCm39) |
I127T |
probably benign |
Het |
Mipep |
T |
C |
14: 61,046,444 (GRCm39) |
L322P |
probably damaging |
Het |
Mob1b |
T |
A |
5: 88,901,061 (GRCm39) |
I156K |
probably damaging |
Het |
Mobp |
G |
A |
9: 119,997,022 (GRCm39) |
C51Y |
probably damaging |
Het |
Ms4a3 |
T |
C |
19: 11,610,271 (GRCm39) |
N97S |
probably benign |
Het |
Myrip |
A |
G |
9: 120,251,324 (GRCm39) |
E210G |
probably damaging |
Het |
Nos1ap |
T |
C |
1: 170,177,025 (GRCm39) |
Y126C |
probably damaging |
Het |
Nuak2 |
G |
T |
1: 132,259,223 (GRCm39) |
A342S |
possibly damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or10ah1-ps1 |
G |
T |
5: 143,123,152 (GRCm39) |
S290R |
probably benign |
Het |
Or2aj5 |
A |
G |
16: 19,425,205 (GRCm39) |
I71T |
probably damaging |
Het |
Or7e165 |
T |
G |
9: 19,695,011 (GRCm39) |
I194S |
probably benign |
Het |
Pdgfra |
A |
G |
5: 75,328,588 (GRCm39) |
N240S |
probably null |
Het |
Pdxdc1 |
T |
C |
16: 13,654,312 (GRCm39) |
T759A |
probably benign |
Het |
Pex2 |
C |
T |
3: 5,626,008 (GRCm39) |
C267Y |
probably damaging |
Het |
Pgghg |
T |
C |
7: 140,525,616 (GRCm39) |
I473T |
probably damaging |
Het |
Pum1 |
T |
C |
4: 130,491,393 (GRCm39) |
L774P |
probably damaging |
Het |
Rcbtb1 |
T |
A |
14: 59,465,804 (GRCm39) |
H382Q |
possibly damaging |
Het |
Rprd2 |
A |
T |
3: 95,672,536 (GRCm39) |
F956I |
probably damaging |
Het |
Samd1 |
G |
A |
8: 84,724,361 (GRCm39) |
|
probably benign |
Het |
Slc4a11 |
A |
T |
2: 130,527,705 (GRCm39) |
S592T |
probably damaging |
Het |
Slc5a4b |
A |
G |
10: 75,898,094 (GRCm39) |
V540A |
probably benign |
Het |
Slfn8 |
G |
A |
11: 82,895,270 (GRCm39) |
T512I |
possibly damaging |
Het |
Slx4 |
A |
T |
16: 3,797,773 (GRCm39) |
I1537N |
probably damaging |
Het |
Sorl1 |
G |
A |
9: 41,915,401 (GRCm39) |
T1276M |
probably damaging |
Het |
Specc1 |
C |
T |
11: 62,042,739 (GRCm39) |
T872M |
probably benign |
Het |
Speer4f1 |
T |
C |
5: 17,684,500 (GRCm39) |
I176T |
probably damaging |
Het |
Spint1 |
T |
C |
2: 119,079,283 (GRCm39) |
I455T |
probably benign |
Het |
Srp54a |
A |
G |
12: 55,135,978 (GRCm39) |
|
probably null |
Het |
Stoml3 |
T |
A |
3: 53,414,875 (GRCm39) |
N222K |
probably damaging |
Het |
Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
Tanc2 |
A |
T |
11: 105,689,504 (GRCm39) |
D222V |
probably damaging |
Het |
Tasor2 |
T |
C |
13: 3,646,785 (GRCm39) |
E80G |
probably damaging |
Het |
Thsd7a |
G |
A |
6: 12,418,336 (GRCm39) |
S631L |
probably benign |
Het |
Vmn2r73 |
G |
A |
7: 85,507,144 (GRCm39) |
H723Y |
probably benign |
Het |
Wdfy4 |
T |
C |
14: 32,769,237 (GRCm39) |
E2076G |
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 |
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 |
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'- TTACTCATGGTCCTTGAAGAATGG -3'
(R):5'- GCCTAAATTTGAGGTCACAGTTTTC -3'
Sequencing Primer
(F):5'- TCATGGTCCTTGAAGAATGGACACTG -3'
(R):5'- TTGATTAATTTACCATTACCCTGAGG -3'
|
Posted On |
2015-04-17 |