Incidental Mutation 'R1240:Prdm15'
| ID |
151963 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prdm15
|
| Ensembl Gene |
ENSMUSG00000014039 |
| Gene Name |
PR domain containing 15 |
| Synonyms |
Zfp298, E130018M06Rik |
| MMRRC Submission |
039307-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1240 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
97592667-97653050 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 97638800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 87
(E87K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095849]
[ENSMUST00000119200]
[ENSMUST00000121584]
[ENSMUST00000135505]
[ENSMUST00000142295]
|
| AlphaFold |
E9Q8T2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095849
AA Change: E113K
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000093533
Gene: ENSMUSG00000014039
AA Change: E113K
| 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: ENSMUST00000119200
AA Change: E87K
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113002
Gene: ENSMUSG00000014039
AA Change: E87K
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3RAY|A
|
7 |
92 |
1e-6 |
PDB |
|
Blast:SET
|
49 |
110 |
7e-39 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121584
AA Change: E87K
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113791
Gene: ENSMUSG00000014039
AA Change: E87K
| 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 damaging
Transcript: ENSMUST00000142295
AA Change: E87K
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120497
Gene: ENSMUSG00000014039
AA Change: E87K
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
G |
5: 124,227,984 (GRCm39) |
I86L |
probably benign |
Het |
| Ankfn1 |
A |
G |
11: 89,282,960 (GRCm39) |
L229P |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,882,549 (GRCm39) |
S164P |
probably benign |
Het |
| Arhgef28 |
C |
T |
13: 98,066,000 (GRCm39) |
V1618I |
probably benign |
Het |
| Arpc3 |
T |
C |
5: 122,542,242 (GRCm39) |
F88S |
probably damaging |
Het |
| Asgr2 |
G |
T |
11: 69,987,676 (GRCm39) |
R58L |
possibly damaging |
Het |
| Bach2 |
T |
C |
4: 32,563,198 (GRCm39) |
F432S |
probably damaging |
Het |
| Brms1l |
C |
A |
12: 55,891,293 (GRCm39) |
R116S |
probably damaging |
Het |
| Casp2 |
T |
A |
6: 42,245,879 (GRCm39) |
C179S |
probably damaging |
Het |
| Ccdc73 |
A |
T |
2: 104,821,906 (GRCm39) |
E618D |
probably benign |
Het |
| Cdh6 |
T |
A |
15: 13,057,541 (GRCm39) |
D260V |
possibly damaging |
Het |
| Cenpc1 |
G |
T |
5: 86,183,369 (GRCm39) |
N473K |
probably benign |
Het |
| Chst2 |
T |
C |
9: 95,287,536 (GRCm39) |
E270G |
possibly damaging |
Het |
| Chst9 |
C |
T |
18: 15,586,231 (GRCm39) |
E111K |
probably benign |
Het |
| Cyp3a44 |
T |
G |
5: 145,711,250 (GRCm39) |
I474L |
probably benign |
Het |
| Dbr1 |
G |
T |
9: 99,466,073 (GRCm39) |
E550D |
probably benign |
Het |
| Dph6 |
T |
C |
2: 114,475,199 (GRCm39) |
|
probably null |
Het |
| Fam227b |
T |
A |
2: 125,966,505 (GRCm39) |
I136L |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,819,950 (GRCm39) |
N2559S |
probably damaging |
Het |
| Fh1 |
A |
T |
1: 175,431,581 (GRCm39) |
I435N |
probably damaging |
Het |
| Gab1 |
A |
C |
8: 81,515,159 (GRCm39) |
S386R |
probably damaging |
Het |
| Gkn1 |
T |
A |
6: 87,326,098 (GRCm39) |
N31Y |
probably damaging |
Het |
| Grk2 |
A |
G |
19: 4,340,707 (GRCm39) |
C251R |
probably damaging |
Het |
| H2-DMa |
G |
T |
17: 34,357,380 (GRCm39) |
|
probably null |
Het |
| Hp1bp3 |
T |
C |
4: 137,957,009 (GRCm39) |
S63P |
probably damaging |
Het |
| Ift74 |
A |
G |
4: 94,581,174 (GRCm39) |
|
probably null |
Het |
| Inf2 |
G |
A |
12: 112,577,210 (GRCm39) |
R1018Q |
unknown |
Het |
| Kat2b |
A |
G |
17: 53,931,425 (GRCm39) |
D141G |
probably benign |
Het |
| Klhl30 |
T |
C |
1: 91,288,737 (GRCm39) |
S499P |
probably benign |
Het |
| Lama2 |
A |
C |
10: 26,917,120 (GRCm39) |
D2268E |
probably damaging |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Marf1 |
T |
C |
16: 13,964,626 (GRCm39) |
N258S |
possibly damaging |
Het |
| Mc1r |
T |
A |
8: 124,134,999 (GRCm39) |
C251S |
probably damaging |
Het |
| Myo15b |
C |
A |
11: 115,771,327 (GRCm39) |
Q257K |
possibly damaging |
Het |
| Nbeal2 |
A |
G |
9: 110,456,176 (GRCm39) |
F2431S |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,186,321 (GRCm39) |
H917L |
possibly damaging |
Het |
| Nlrp1a |
A |
G |
11: 71,004,292 (GRCm39) |
|
probably null |
Het |
| Nr1d2 |
A |
T |
14: 18,211,891 (GRCm38) |
M404K |
probably benign |
Het |
| Or4b1d |
T |
G |
2: 89,969,157 (GRCm39) |
I109L |
possibly damaging |
Het |
| Or8u8 |
T |
G |
2: 86,012,453 (GRCm39) |
M1L |
possibly damaging |
Het |
| Otoa |
T |
C |
7: 120,755,713 (GRCm39) |
S1040P |
probably benign |
Het |
| Pctp |
T |
C |
11: 89,893,640 (GRCm39) |
D10G |
probably benign |
Het |
| Pja2 |
G |
T |
17: 64,616,613 (GRCm39) |
T94K |
probably benign |
Het |
| Plxna1 |
C |
T |
6: 89,298,032 (GRCm39) |
V1749M |
probably damaging |
Het |
| Rgsl1 |
A |
G |
1: 153,660,937 (GRCm39) |
F1028L |
probably benign |
Het |
| Sepsecs |
T |
C |
5: 52,818,021 (GRCm39) |
N252S |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,574,304 (GRCm39) |
L749Q |
unknown |
Het |
| Slc22a22 |
G |
A |
15: 57,114,268 (GRCm39) |
S353F |
probably benign |
Het |
| Slc49a4 |
A |
G |
16: 35,518,379 (GRCm39) |
F445L |
probably benign |
Het |
| Slc7a13 |
A |
T |
4: 19,819,212 (GRCm39) |
K137N |
probably damaging |
Het |
| Snx13 |
G |
T |
12: 35,141,405 (GRCm39) |
V163L |
probably damaging |
Het |
| Synrg |
A |
T |
11: 83,914,182 (GRCm39) |
T1115S |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,740,928 (GRCm39) |
V1185A |
possibly damaging |
Het |
| Tent5b |
T |
C |
4: 133,213,815 (GRCm39) |
F229L |
probably benign |
Het |
| Tg |
T |
A |
15: 66,700,397 (GRCm39) |
N118K |
probably benign |
Het |
| Top1mt |
T |
C |
15: 75,541,916 (GRCm39) |
K153E |
probably damaging |
Het |
| Trmt11 |
T |
C |
10: 30,466,821 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,675,061 (GRCm39) |
D1953G |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,828,864 (GRCm39) |
S137C |
probably damaging |
Het |
| Vwf |
C |
A |
6: 125,580,271 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- TGTGAGTGAGATTGCCACACCG -3'
(R):5'- AGGGCCTCTTTGAGACTCCTTCTG -3'
Sequencing Primer
(F):5'- TTACATCAGCATGGGGTCAC -3'
(R):5'- GAGACTCCTTCTGCTTCCAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation