Incidental Mutation 'R4326:Prdm15'
ID |
324384 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prdm15
|
Ensembl Gene |
ENSMUSG00000014039 |
Gene Name |
PR domain containing 15 |
Synonyms |
Zfp298, E130018M06Rik |
MMRRC Submission |
041096-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4326 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
97592667-97653050 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 97607715 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 709
(N709K)
|
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: N735K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000093533 Gene: ENSMUSG00000014039 AA Change: N735K
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: N709K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113791 Gene: ENSMUSG00000014039 AA Change: N709K
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 |
|
Meta Mutation Damage Score |
0.4029 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
98% (57/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd3 |
A |
G |
3: 121,555,119 (GRCm39) |
V616A |
probably benign |
Het |
Abhd17a |
A |
G |
10: 80,419,884 (GRCm39) |
S241P |
probably benign |
Het |
Adamts15 |
T |
C |
9: 30,815,814 (GRCm39) |
S681G |
probably benign |
Het |
Arap2 |
A |
T |
5: 62,779,206 (GRCm39) |
H1461Q |
possibly damaging |
Het |
Armc3 |
A |
G |
2: 19,305,284 (GRCm39) |
K681E |
probably damaging |
Het |
Arrdc5 |
T |
C |
17: 56,601,420 (GRCm39) |
E235G |
possibly damaging |
Het |
Atxn1 |
T |
C |
13: 46,119,443 (GRCm39) |
|
probably benign |
Het |
C9orf72 |
T |
A |
4: 35,225,985 (GRCm39) |
|
probably benign |
Het |
Capn13 |
C |
A |
17: 73,638,103 (GRCm39) |
K433N |
probably benign |
Het |
Ccdc113 |
G |
A |
8: 96,283,896 (GRCm39) |
M323I |
probably benign |
Het |
Cd55 |
A |
T |
1: 130,380,220 (GRCm39) |
C253S |
probably damaging |
Het |
Cyp2j8 |
T |
A |
4: 96,395,566 (GRCm39) |
T20S |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,971,066 (GRCm39) |
V2707M |
probably benign |
Het |
Erlec1 |
C |
T |
11: 30,899,972 (GRCm39) |
E166K |
probably benign |
Het |
Fastkd2 |
A |
G |
1: 63,791,516 (GRCm39) |
K675E |
probably benign |
Het |
Gid4 |
G |
A |
11: 60,308,662 (GRCm39) |
V61M |
possibly damaging |
Het |
Glt28d2 |
G |
A |
3: 85,779,393 (GRCm39) |
Q27* |
probably null |
Het |
Ipo8 |
A |
T |
6: 148,701,662 (GRCm39) |
|
probably benign |
Het |
Isx |
A |
G |
8: 75,600,284 (GRCm39) |
I6V |
probably benign |
Het |
Itsn1 |
A |
G |
16: 91,650,743 (GRCm39) |
|
probably benign |
Het |
Klhl40 |
A |
G |
9: 121,607,956 (GRCm39) |
D372G |
probably benign |
Het |
Krt80 |
C |
T |
15: 101,250,189 (GRCm39) |
V19M |
possibly damaging |
Het |
Lingo2 |
T |
A |
4: 35,708,462 (GRCm39) |
D506V |
probably damaging |
Het |
Lmo7 |
A |
T |
14: 102,137,510 (GRCm39) |
E504D |
possibly damaging |
Het |
Lpcat4 |
G |
A |
2: 112,076,737 (GRCm39) |
E454K |
probably benign |
Het |
Macf1 |
C |
T |
4: 123,276,005 (GRCm39) |
A4176T |
probably damaging |
Het |
Noxo1 |
G |
A |
17: 24,917,937 (GRCm39) |
R81H |
probably benign |
Het |
Or10ab4 |
T |
C |
7: 107,654,362 (GRCm39) |
Y58H |
probably damaging |
Het |
Or7g34 |
T |
A |
9: 19,478,318 (GRCm39) |
M121L |
possibly damaging |
Het |
Pafah1b1 |
T |
C |
11: 74,573,066 (GRCm39) |
T333A |
probably benign |
Het |
Pak1ip1 |
A |
G |
13: 41,158,232 (GRCm39) |
D35G |
possibly damaging |
Het |
Pak3 |
T |
C |
X: 142,516,205 (GRCm39) |
|
probably null |
Het |
Pcdhb9 |
A |
T |
18: 37,534,875 (GRCm39) |
S290C |
probably benign |
Het |
Pcdhb9 |
G |
T |
18: 37,534,876 (GRCm39) |
S290I |
probably benign |
Het |
Ppp2r2d |
T |
A |
7: 138,470,214 (GRCm39) |
V25D |
probably damaging |
Het |
Ptprs |
C |
A |
17: 56,754,468 (GRCm39) |
A191S |
possibly damaging |
Het |
Rrs1 |
G |
T |
1: 9,616,566 (GRCm39) |
R273L |
possibly damaging |
Het |
Sin3a |
T |
C |
9: 57,002,642 (GRCm39) |
L178P |
probably damaging |
Het |
Slc13a1 |
A |
G |
6: 24,103,478 (GRCm39) |
V355A |
probably benign |
Het |
Spen |
T |
G |
4: 141,204,683 (GRCm39) |
N1315H |
unknown |
Het |
Ssrp1 |
A |
G |
2: 84,870,561 (GRCm39) |
|
probably benign |
Het |
St7 |
G |
A |
6: 17,819,287 (GRCm39) |
V64M |
probably damaging |
Het |
Syne2 |
C |
A |
12: 75,999,516 (GRCm39) |
A2304E |
probably damaging |
Het |
Tcf25 |
T |
A |
8: 124,127,882 (GRCm39) |
L622* |
probably null |
Het |
Tmem107 |
G |
T |
11: 68,962,301 (GRCm39) |
|
probably null |
Het |
Tmem62 |
T |
A |
2: 120,810,991 (GRCm39) |
N156K |
probably damaging |
Het |
Wdr90 |
G |
T |
17: 26,072,705 (GRCm39) |
R884S |
probably benign |
Het |
Zfp184 |
T |
C |
13: 22,144,072 (GRCm39) |
Y593H |
probably damaging |
Het |
Zfp934 |
T |
G |
13: 62,665,373 (GRCm39) |
N312H |
probably benign |
Het |
Zfta |
A |
G |
19: 7,398,591 (GRCm39) |
|
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 |
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'- TGAAGGATGTGCTGCAAGTGTC -3'
(R):5'- TGCCTCACCTCCATCGATAAAG -3'
Sequencing Primer
(F):5'- GCTGCAAGTGTCAGGGG -3'
(R):5'- GGAACTTTCACACAGGCCC -3'
|
Posted On |
2015-06-24 |