Incidental Mutation 'R6311:Prdm15'
ID |
509789 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prdm15
|
Ensembl Gene |
ENSMUSG00000014039 |
Gene Name |
PR domain containing 15 |
Synonyms |
Zfp298, E130018M06Rik |
MMRRC Submission |
044469-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6311 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
97592667-97653050 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 97600255 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 893
(E893G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113791
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095849]
[ENSMUST00000121584]
[ENSMUST00000142295]
|
AlphaFold |
E9Q8T2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000095849
AA Change: E919G
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000093533 Gene: ENSMUSG00000014039 AA Change: E919G
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 null
Transcript: ENSMUST00000121584
AA Change: E893G
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000113791 Gene: ENSMUSG00000014039 AA Change: E893G
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
|
Meta Mutation Damage Score |
0.6167 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy2 |
A |
G |
13: 68,773,911 (GRCm39) |
I1044T |
probably damaging |
Het |
Arhgef4 |
T |
G |
1: 34,763,062 (GRCm39) |
F773V |
unknown |
Het |
B4galnt4 |
A |
G |
7: 140,648,572 (GRCm39) |
N696S |
probably damaging |
Het |
Cdh16 |
T |
A |
8: 105,341,065 (GRCm39) |
D786V |
probably benign |
Het |
Cdh8 |
T |
C |
8: 100,127,527 (GRCm39) |
Y28C |
probably damaging |
Het |
Cgn |
C |
T |
3: 94,685,486 (GRCm39) |
|
probably benign |
Het |
Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
Chst10 |
A |
G |
1: 38,907,128 (GRCm39) |
V174A |
probably damaging |
Het |
Clca4a |
T |
A |
3: 144,672,174 (GRCm39) |
N256I |
probably damaging |
Het |
Cntnap5a |
G |
A |
1: 116,339,836 (GRCm39) |
W698* |
probably null |
Het |
Ddx24 |
C |
A |
12: 103,390,166 (GRCm39) |
R275L |
probably damaging |
Het |
Dnmt3b |
G |
T |
2: 153,515,925 (GRCm39) |
G444V |
probably damaging |
Het |
Ermn |
A |
G |
2: 57,941,771 (GRCm39) |
F109S |
probably damaging |
Het |
Fam227a |
C |
T |
15: 79,524,895 (GRCm39) |
A190T |
probably benign |
Het |
Fstl4 |
T |
C |
11: 53,067,804 (GRCm39) |
W556R |
probably damaging |
Het |
Fut2 |
T |
A |
7: 45,299,804 (GRCm39) |
I323F |
possibly damaging |
Het |
Grik2 |
T |
G |
10: 49,454,234 (GRCm39) |
K94Q |
probably damaging |
Het |
Hsd3b5 |
T |
C |
3: 98,537,406 (GRCm39) |
R37G |
possibly damaging |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,648,816 (GRCm39) |
|
probably null |
Het |
Lrriq1 |
A |
T |
10: 103,009,254 (GRCm39) |
D1076E |
probably benign |
Het |
Mical2 |
T |
A |
7: 111,922,765 (GRCm39) |
I590N |
probably damaging |
Het |
Mycbp2 |
A |
G |
14: 103,500,176 (GRCm39) |
L940P |
possibly damaging |
Het |
Nr6a1 |
T |
C |
2: 38,629,083 (GRCm39) |
I257V |
possibly damaging |
Het |
Or5b100-ps1 |
T |
A |
19: 12,993,935 (GRCm39) |
M116K |
probably damaging |
Het |
Or6c216 |
A |
G |
10: 129,678,776 (GRCm39) |
L45P |
possibly damaging |
Het |
Pcdhb17 |
A |
T |
18: 37,619,316 (GRCm39) |
|
probably null |
Het |
Pdcl3 |
A |
G |
1: 39,026,925 (GRCm39) |
M1V |
probably null |
Het |
Pdzd2 |
T |
A |
15: 12,458,274 (GRCm39) |
E196D |
probably damaging |
Het |
Pgm1 |
T |
C |
4: 99,827,237 (GRCm39) |
F379S |
possibly damaging |
Het |
Pgm2 |
G |
A |
5: 64,273,758 (GRCm39) |
C581Y |
probably benign |
Het |
Plbd1 |
T |
A |
6: 136,590,945 (GRCm39) |
H407L |
probably benign |
Het |
Prdm12 |
A |
G |
2: 31,544,321 (GRCm39) |
Y308C |
probably benign |
Het |
Slc34a1 |
A |
G |
13: 23,999,005 (GRCm39) |
T133A |
probably benign |
Het |
Slc9a8 |
T |
A |
2: 167,293,140 (GRCm39) |
S163T |
probably damaging |
Het |
Sult2a3 |
T |
C |
7: 13,845,482 (GRCm39) |
I126V |
probably benign |
Het |
Tlr1 |
C |
T |
5: 65,084,188 (GRCm39) |
D130N |
probably damaging |
Het |
Ugt3a1 |
A |
T |
15: 9,361,604 (GRCm39) |
K127* |
probably null |
Het |
Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
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 |
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 |
|
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'- ACTCTGTTGCTCAGTGGAAGAAAG -3'
(R):5'- GCAAGCAGTGGACTTGTTCC -3'
Sequencing Primer
(F):5'- TGCCTAGCATGTATGAAGCC -3'
(R):5'- TCCGTGTGTGACAAGAAGTACGTC -3'
|
Posted On |
2018-04-02 |