Incidental Mutation 'R5628:Prdm15'
ID |
441951 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prdm15
|
Ensembl Gene |
ENSMUSG00000014039 |
Gene Name |
PR domain containing 15 |
Synonyms |
Zfp298, E130018M06Rik |
MMRRC Submission |
043167-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5628 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
97592667-97653050 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 97600823 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 812
(M812L)
|
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: M838L
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000093533 Gene: ENSMUSG00000014039 AA Change: M838L
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: M812L
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113791 Gene: ENSMUSG00000014039 AA Change: M812L
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
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
A |
G |
8: 41,208,747 (GRCm39) |
D671G |
probably benign |
Het |
Ap3b1 |
A |
G |
13: 94,613,556 (GRCm39) |
D685G |
unknown |
Het |
Atp6v1h |
G |
A |
1: 5,206,112 (GRCm39) |
W358* |
probably null |
Het |
Atr |
T |
A |
9: 95,756,279 (GRCm39) |
Y830* |
probably null |
Het |
B3galnt2 |
A |
T |
13: 14,169,737 (GRCm39) |
|
probably null |
Het |
Casz1 |
T |
C |
4: 149,030,553 (GRCm39) |
Y1191H |
probably damaging |
Het |
Cdc40 |
T |
G |
10: 40,727,049 (GRCm39) |
E169D |
probably benign |
Het |
Cep55 |
C |
T |
19: 38,058,396 (GRCm39) |
Q330* |
probably null |
Het |
Clcn1 |
T |
C |
6: 42,275,823 (GRCm39) |
V315A |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,226,218 (GRCm39) |
F2957L |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dync1li2 |
T |
C |
8: 105,147,224 (GRCm39) |
N490S |
possibly damaging |
Het |
Ephb3 |
T |
C |
16: 21,036,869 (GRCm39) |
Y111H |
probably damaging |
Het |
Fam186a |
A |
C |
15: 99,839,628 (GRCm39) |
H2205Q |
possibly damaging |
Het |
Fat3 |
T |
C |
9: 15,877,392 (GRCm39) |
Y3407C |
probably damaging |
Het |
Fbxw8 |
A |
G |
5: 118,230,622 (GRCm39) |
V393A |
probably damaging |
Het |
Fnip1 |
A |
T |
11: 54,394,459 (GRCm39) |
D965V |
probably benign |
Het |
Gramd2a |
T |
C |
9: 59,615,006 (GRCm39) |
M3T |
probably benign |
Het |
Kctd15 |
T |
C |
7: 34,339,720 (GRCm39) |
D283G |
probably damaging |
Het |
Kif9 |
C |
T |
9: 110,343,621 (GRCm39) |
R547* |
probably null |
Het |
Map4 |
A |
G |
9: 109,910,915 (GRCm39) |
T245A |
probably benign |
Het |
Mindy4 |
C |
T |
6: 55,237,579 (GRCm39) |
L385F |
probably damaging |
Het |
Myo7b |
A |
G |
18: 32,107,240 (GRCm39) |
C1252R |
probably benign |
Het |
Myt1l |
T |
A |
12: 29,861,620 (GRCm39) |
I134N |
unknown |
Het |
Or5m10b |
T |
A |
2: 85,699,149 (GRCm39) |
I71N |
probably damaging |
Het |
Osgin2 |
T |
A |
4: 15,998,998 (GRCm39) |
N208I |
probably benign |
Het |
Polr2b |
G |
A |
5: 77,461,063 (GRCm39) |
V29M |
probably damaging |
Het |
Prr36 |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
8: 4,266,273 (GRCm39) |
|
probably benign |
Het |
Rev3l |
T |
A |
10: 39,698,963 (GRCm39) |
N1153K |
probably damaging |
Het |
Rnf17 |
A |
G |
14: 56,724,409 (GRCm39) |
|
probably null |
Het |
Rusc2 |
C |
T |
4: 43,425,348 (GRCm39) |
T1151M |
probably damaging |
Het |
Scrib |
T |
C |
15: 75,921,389 (GRCm39) |
T30A |
possibly damaging |
Het |
Sephs1 |
T |
C |
2: 4,894,018 (GRCm39) |
I73T |
probably benign |
Het |
Sf3b1 |
C |
T |
1: 55,037,334 (GRCm39) |
A861T |
probably benign |
Het |
Shq1 |
A |
G |
6: 100,607,964 (GRCm39) |
W316R |
probably damaging |
Het |
Slc26a5 |
T |
A |
5: 22,021,974 (GRCm39) |
D484V |
probably benign |
Het |
Smg1 |
C |
T |
7: 117,753,924 (GRCm39) |
|
probably benign |
Het |
Stard5 |
T |
C |
7: 83,282,355 (GRCm39) |
I56T |
probably benign |
Het |
Szt2 |
A |
G |
4: 118,230,414 (GRCm39) |
V2653A |
unknown |
Het |
Tmem217 |
A |
T |
17: 29,745,430 (GRCm39) |
I100N |
probably damaging |
Het |
Trpm2 |
C |
T |
10: 77,748,470 (GRCm39) |
R1400Q |
probably benign |
Het |
Vmn1r82 |
T |
G |
7: 12,039,205 (GRCm39) |
N41K |
probably damaging |
Het |
Zfp236 |
T |
C |
18: 82,675,247 (GRCm39) |
D367G |
probably damaging |
Het |
Zfyve1 |
A |
T |
12: 83,621,663 (GRCm39) |
V244E |
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 |
R5505:Prdm15
|
UTSW |
16 |
97,618,183 (GRCm39) |
missense |
possibly damaging |
0.76 |
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'- CCATGACGGTCCTATTCTGC -3'
(R):5'- GTGTTCTTAGGCCTTCACAAATC -3'
Sequencing Primer
(F):5'- CATGACGGTCCTATTCTGCAAGTG -3'
(R):5'- GGCCTAAATTTGAGGTCACAGTTTTC -3'
|
Posted On |
2016-11-08 |