Incidental Mutation 'R6540:Prdm15'
| ID |
520720 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prdm15
|
| Ensembl Gene |
ENSMUSG00000014039 |
| Gene Name |
PR domain containing 15 |
| Synonyms |
Zfp298, E130018M06Rik |
| MMRRC Submission |
044666-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6540 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
97592667-97653050 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 97637005 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 104
(V104E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095849]
[ENSMUST00000119200]
[ENSMUST00000121584]
[ENSMUST00000135505]
[ENSMUST00000142295]
|
| AlphaFold |
E9Q8T2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095849
AA Change: V130E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000093533
Gene: ENSMUSG00000014039
AA Change: V130E
| 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 benign
Transcript: ENSMUST00000119200
AA Change: V104E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113002
Gene: ENSMUSG00000014039
AA Change: V104E
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3RAY|A
|
7 |
92 |
1e-6 |
PDB |
|
Blast:SET
|
49 |
110 |
7e-39 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121584
AA Change: V104E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000113791
Gene: ENSMUSG00000014039
AA Change: V104E
| 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: ENSMUST00000129331
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135505
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142295
AA Change: V104E
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000120497
Gene: ENSMUSG00000014039
AA Change: V104E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,660,779 (GRCm39) |
Y143H |
possibly damaging |
Het |
| Aco1 |
G |
A |
4: 40,186,367 (GRCm39) |
R593Q |
probably benign |
Het |
| Adamts2 |
T |
C |
11: 50,679,567 (GRCm39) |
V849A |
possibly damaging |
Het |
| Ash1l |
A |
T |
3: 88,892,368 (GRCm39) |
T1416S |
probably damaging |
Het |
| Cdc5l |
A |
G |
17: 45,737,570 (GRCm39) |
W63R |
probably damaging |
Het |
| Cep95 |
T |
A |
11: 106,692,328 (GRCm39) |
D169E |
probably damaging |
Het |
| Col14a1 |
A |
C |
15: 55,235,977 (GRCm39) |
N297T |
unknown |
Het |
| Cp |
T |
C |
3: 20,018,693 (GRCm39) |
|
probably null |
Het |
| Fbxl19 |
G |
T |
7: 127,347,525 (GRCm39) |
|
probably benign |
Het |
| Flnc |
T |
C |
6: 29,446,376 (GRCm39) |
V931A |
possibly damaging |
Het |
| Foxj2 |
A |
G |
6: 122,810,202 (GRCm39) |
H187R |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,441,634 (GRCm39) |
V1199I |
probably benign |
Het |
| Ighv7-4 |
A |
G |
12: 114,186,470 (GRCm39) |
Y101H |
possibly damaging |
Het |
| Igkv10-94 |
T |
A |
6: 68,681,507 (GRCm39) |
Y111F |
probably benign |
Het |
| Lin28a |
C |
T |
4: 133,745,372 (GRCm39) |
V74M |
possibly damaging |
Het |
| Lrrc49 |
T |
C |
9: 60,592,335 (GRCm39) |
N53S |
possibly damaging |
Het |
| Mroh9 |
T |
G |
1: 162,866,541 (GRCm39) |
T701P |
possibly damaging |
Het |
| Ndst4 |
A |
T |
3: 125,515,801 (GRCm39) |
K309* |
probably null |
Het |
| Nlrp9a |
T |
C |
7: 26,256,817 (GRCm39) |
V145A |
possibly damaging |
Het |
| Or2l5 |
T |
C |
16: 19,333,571 (GRCm39) |
I272V |
probably benign |
Het |
| Ovgp1 |
A |
T |
3: 105,893,897 (GRCm39) |
K557* |
probably null |
Het |
| Pde4b |
T |
C |
4: 102,459,073 (GRCm39) |
L546P |
probably damaging |
Het |
| Pkd1 |
G |
A |
17: 24,794,951 (GRCm39) |
V2213M |
probably damaging |
Het |
| Plekhh1 |
A |
G |
12: 79,111,263 (GRCm39) |
I542V |
probably benign |
Het |
| Ppan |
A |
G |
9: 20,802,506 (GRCm39) |
|
probably null |
Het |
| Semp2l2a |
A |
C |
8: 13,887,573 (GRCm39) |
S173A |
probably benign |
Het |
| Sik3 |
A |
G |
9: 46,123,351 (GRCm39) |
H1050R |
probably benign |
Het |
| Slc35d3 |
A |
G |
10: 19,725,086 (GRCm39) |
F257L |
possibly damaging |
Het |
| Tfip11 |
A |
G |
5: 112,482,263 (GRCm39) |
|
probably null |
Het |
| Tmem132d |
A |
G |
5: 128,345,596 (GRCm39) |
S309P |
possibly damaging |
Het |
| Tmem87a |
T |
C |
2: 120,234,400 (GRCm39) |
I48V |
probably benign |
Het |
| V1rd19 |
T |
A |
7: 23,703,056 (GRCm39) |
L174* |
probably null |
Het |
| Zfp729a |
A |
G |
13: 67,767,767 (GRCm39) |
C821R |
possibly damaging |
Het |
| Zfp970 |
C |
A |
2: 177,167,388 (GRCm39) |
H321N |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,804,055 (GRCm39) |
L2599P |
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 |
|
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 |
|
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'- TGGCATAAAAGGCAGCATACC -3'
(R):5'- GGGACCCATTGCATGTCTTC -3'
Sequencing Primer
(F):5'- TACCACACACGCAGTTCAGTG -3'
(R):5'- TGTGACCAGCCTGACCCATC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation