Incidental Mutation 'R5721:Prdm15'
| ID |
451461 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prdm15
|
| Ensembl Gene |
ENSMUSG00000014039 |
| Gene Name |
PR domain containing 15 |
| Synonyms |
Zfp298, E130018M06Rik |
| MMRRC Submission |
043189-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5721 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
97592667-97653050 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 97608296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 667
(I667N)
|
| 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: I693N
PolyPhen 2
Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000093533
Gene: ENSMUSG00000014039
AA Change: I693N
| 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: I667N
PolyPhen 2
Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113791
Gene: ENSMUSG00000014039
AA Change: I667N
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
T |
15: 84,844,798 (GRCm39) |
V30D |
probably damaging |
Het |
| Atl3 |
T |
A |
19: 7,506,376 (GRCm39) |
M302K |
probably benign |
Het |
| Ccdc91 |
C |
G |
6: 147,477,001 (GRCm39) |
L230V |
unknown |
Het |
| Ciz1 |
C |
T |
2: 32,266,052 (GRCm39) |
T39I |
probably damaging |
Het |
| Cog8 |
T |
C |
8: 107,776,780 (GRCm39) |
T532A |
probably benign |
Het |
| Ctsr |
C |
T |
13: 61,309,667 (GRCm39) |
G181S |
possibly damaging |
Het |
| Drc7 |
T |
C |
8: 95,800,961 (GRCm39) |
|
probably null |
Het |
| Dvl2 |
A |
G |
11: 69,896,819 (GRCm39) |
R238G |
possibly damaging |
Het |
| Faf1 |
T |
C |
4: 109,792,863 (GRCm39) |
F612L |
probably benign |
Het |
| Fbxo40 |
T |
A |
16: 36,789,296 (GRCm39) |
M605L |
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gprc6a |
A |
T |
10: 51,491,076 (GRCm39) |
M716K |
probably benign |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
| Ift70a1 |
A |
T |
2: 75,811,715 (GRCm39) |
Y123N |
probably damaging |
Het |
| Jcad |
A |
T |
18: 4,676,044 (GRCm39) |
T1269S |
possibly damaging |
Het |
| Kif23 |
C |
G |
9: 61,851,498 (GRCm39) |
G66A |
probably benign |
Het |
| Lrrd1 |
T |
C |
5: 3,900,619 (GRCm39) |
M308T |
probably benign |
Het |
| Lsg1 |
C |
T |
16: 30,380,593 (GRCm39) |
A615T |
probably benign |
Het |
| Mcph1 |
G |
A |
8: 18,721,223 (GRCm39) |
V684M |
probably damaging |
Het |
| Mpv17l |
T |
C |
16: 13,764,658 (GRCm39) |
Y62H |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,635,565 (GRCm39) |
S68P |
probably damaging |
Het |
| Or13d1 |
G |
T |
4: 52,971,068 (GRCm39) |
W149L |
probably damaging |
Het |
| Osgepl1 |
A |
T |
1: 53,360,359 (GRCm39) |
M362L |
possibly damaging |
Het |
| P2ry14 |
T |
C |
3: 59,022,452 (GRCm39) |
|
probably null |
Het |
| Pacsin3 |
T |
A |
2: 91,094,580 (GRCm39) |
C402S |
probably damaging |
Het |
| Papss2 |
A |
G |
19: 32,638,064 (GRCm39) |
Y392C |
probably damaging |
Het |
| Plekha8 |
T |
A |
6: 54,590,091 (GRCm39) |
W19R |
probably damaging |
Het |
| Rab11fip2 |
A |
G |
19: 59,924,042 (GRCm39) |
S279P |
probably damaging |
Het |
| Slc6a20b |
C |
A |
9: 123,441,054 (GRCm39) |
G131C |
probably null |
Het |
| Suox |
T |
C |
10: 128,507,162 (GRCm39) |
I289V |
possibly damaging |
Het |
| Tbc1d16 |
C |
T |
11: 119,049,556 (GRCm39) |
|
probably null |
Het |
| Tmem269 |
T |
C |
4: 119,067,146 (GRCm39) |
T146A |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,558,911 (GRCm39) |
R29657W |
probably damaging |
Het |
| Vmn1r84 |
C |
A |
7: 12,096,153 (GRCm39) |
C168F |
probably damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,657,499 (GRCm39) |
F180L |
probably benign |
Het |
| Zfand4 |
C |
G |
6: 116,264,956 (GRCm39) |
D140E |
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 |
|
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'- ACGTGTACAGAAGGCTGGTG -3'
(R):5'- CATGAGTAGCTGACCCTCTTC -3'
Sequencing Primer
(F):5'- GCAGGTGTCCCAGATATCTG -3'
(R):5'- CTTCGGGTATCTAGCTGACACGAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation