Incidental Mutation 'IGL02724:Prdm9'
ID |
305070 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Prdm9
|
Ensembl Gene |
ENSMUSG00000051977 |
Gene Name |
PR domain containing 9 |
Synonyms |
Meisetz, repro7, Dsbc1, Rcr1, G1-419-29 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.351)
|
Stock # |
IGL02724
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
15763341-15784616 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 15783522 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 14
(S14R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131871
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000147532]
[ENSMUST00000167994]
|
AlphaFold |
Q96EQ9 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132675
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139911
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147532
|
SMART Domains |
Protein: ENSMUSP00000118454 Gene: ENSMUSG00000051977
Domain | Start | End | E-Value | Type |
Pfam:SSXRD
|
49 |
81 |
1.8e-19 |
PFAM |
SET
|
123 |
243 |
2.56e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167994
AA Change: S14R
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000131871 Gene: ENSMUSG00000051977 AA Change: S14R
Domain | Start | End | E-Value | Type |
KRAB
|
30 |
89 |
5.54e-8 |
SMART |
Pfam:SSXRD
|
175 |
205 |
1.5e-20 |
PFAM |
SET
|
248 |
368 |
2.56e-2 |
SMART |
ZnF_C2H2
|
392 |
415 |
3.29e-1 |
SMART |
ZnF_C2H2
|
516 |
535 |
4.74e1 |
SMART |
ZnF_C2H2
|
541 |
563 |
9.73e-4 |
SMART |
ZnF_C2H2
|
569 |
591 |
1.3e-4 |
SMART |
ZnF_C2H2
|
597 |
619 |
1.3e-4 |
SMART |
ZnF_C2H2
|
625 |
647 |
4.24e-4 |
SMART |
ZnF_C2H2
|
653 |
675 |
4.24e-4 |
SMART |
ZnF_C2H2
|
681 |
703 |
1.95e-3 |
SMART |
ZnF_C2H2
|
709 |
731 |
5.99e-4 |
SMART |
ZnF_C2H2
|
737 |
759 |
1.95e-3 |
SMART |
ZnF_C2H2
|
765 |
787 |
1.95e-3 |
SMART |
ZnF_C2H2
|
793 |
815 |
1.3e-4 |
SMART |
ZnF_C2H2
|
821 |
843 |
1.6e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178455
|
SMART Domains |
Protein: ENSMUSP00000137164 Gene: ENSMUSG00000095920
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_S21
|
11 |
50 |
1.4e-13 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger protein with histone methyltransferase activity that catalyzes histone H3 lysine 4 trimethylation (H3K4me3) during meiotic prophase. This protein contains multiple domains, including a Kruppel-associated box (KRAB) domain, an SSX repression domain (SSXRD), a PRD1-BF1 and RIZ homologous region, a subclass of SET (PR/SET) domain, and a tandem array of C2H2 zinc fingers. The zinc finger array recognizes a short sequence motif, leading to local H3K4me3, and meiotic recombination hotspot activity. The observed allelic variation alters the DNA-binding sequence specificity of the protein, resulting in distinct meiotic recombination hotspots amongst individuals and populations. Multiple alternate alleles of this gene have been described. [provided by RefSeq, Jul 2015] PHENOTYPE: Mice homozygous for a knock-out allele show decreased oocyte number, azoospermia, and sterility in both sexes due to severe impairment of the double-stranded break repair pathway, deficient pairing of homologous chromosomes, and impaired sex body formation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Accs |
T |
G |
2: 93,676,121 (GRCm39) |
K85Q |
probably damaging |
Het |
Acmsd |
A |
T |
1: 127,676,822 (GRCm39) |
T116S |
possibly damaging |
Het |
Agrn |
T |
A |
4: 156,257,264 (GRCm39) |
K1189* |
probably null |
Het |
Alk |
T |
C |
17: 72,292,455 (GRCm39) |
R508G |
probably benign |
Het |
Arhgap23 |
T |
A |
11: 97,382,005 (GRCm39) |
Y1123N |
probably damaging |
Het |
Arl6ip5 |
G |
T |
6: 97,209,365 (GRCm39) |
M133I |
probably benign |
Het |
Axin2 |
G |
A |
11: 108,833,772 (GRCm39) |
G573D |
possibly damaging |
Het |
B4galt2 |
A |
G |
4: 117,734,075 (GRCm39) |
|
probably null |
Het |
Baz2b |
G |
T |
2: 59,807,718 (GRCm39) |
D180E |
possibly damaging |
Het |
Btnl6 |
G |
T |
17: 34,727,149 (GRCm39) |
Y460* |
probably null |
Het |
Cct7 |
A |
T |
6: 85,436,131 (GRCm39) |
D14V |
probably damaging |
Het |
Cd55 |
T |
A |
1: 130,377,149 (GRCm39) |
|
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cdh2 |
C |
T |
18: 16,762,537 (GRCm39) |
R526Q |
probably benign |
Het |
Chi3l1 |
A |
C |
1: 134,116,981 (GRCm39) |
E315A |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,233,163 (GRCm39) |
S642P |
probably benign |
Het |
Cpm |
C |
A |
10: 117,465,756 (GRCm39) |
T43K |
probably damaging |
Het |
Cracd |
T |
C |
5: 77,006,306 (GRCm39) |
V889A |
unknown |
Het |
Cyp8b1 |
A |
T |
9: 121,744,453 (GRCm39) |
V293D |
probably benign |
Het |
Dock1 |
T |
G |
7: 134,765,082 (GRCm39) |
D1691E |
probably benign |
Het |
Fasn |
T |
C |
11: 120,700,659 (GRCm39) |
D2120G |
probably benign |
Het |
Gal3st4 |
T |
C |
5: 138,263,679 (GRCm39) |
K440R |
probably benign |
Het |
Gfpt1 |
A |
T |
6: 87,033,164 (GRCm39) |
K130* |
probably null |
Het |
Gpr26 |
T |
C |
7: 131,576,121 (GRCm39) |
|
probably null |
Het |
Htr2a |
A |
T |
14: 74,882,502 (GRCm39) |
I163F |
probably damaging |
Het |
Ift70a2 |
T |
C |
2: 75,806,682 (GRCm39) |
E610G |
probably benign |
Het |
Insrr |
A |
G |
3: 87,716,879 (GRCm39) |
D673G |
probably benign |
Het |
Ipo8 |
G |
T |
6: 148,692,979 (GRCm39) |
C636* |
probably null |
Het |
Kirrel1 |
C |
A |
3: 86,997,780 (GRCm39) |
E248* |
probably null |
Het |
Lrp6 |
A |
G |
6: 134,461,228 (GRCm39) |
V743A |
probably damaging |
Het |
Lrrc45 |
C |
A |
11: 120,609,144 (GRCm39) |
S374R |
probably benign |
Het |
Map3k9 |
G |
A |
12: 81,771,516 (GRCm39) |
P714S |
probably benign |
Het |
Mrgprb8 |
T |
A |
7: 48,039,121 (GRCm39) |
L264Q |
possibly damaging |
Het |
Mroh4 |
C |
A |
15: 74,478,000 (GRCm39) |
W902L |
probably benign |
Het |
Nfat5 |
T |
A |
8: 108,085,367 (GRCm39) |
D535E |
probably damaging |
Het |
Nfatc3 |
T |
C |
8: 106,834,817 (GRCm39) |
V713A |
probably benign |
Het |
Npc1l1 |
C |
T |
11: 6,164,684 (GRCm39) |
V1122M |
possibly damaging |
Het |
Nsg2 |
A |
G |
11: 32,005,011 (GRCm39) |
|
probably null |
Het |
Or4c15 |
C |
A |
2: 88,759,792 (GRCm39) |
R289L |
probably damaging |
Het |
Or8s10 |
T |
A |
15: 98,335,660 (GRCm39) |
F103L |
probably benign |
Het |
Pax9 |
A |
T |
12: 56,756,604 (GRCm39) |
H314L |
possibly damaging |
Het |
Phf21a |
A |
T |
2: 92,190,592 (GRCm39) |
I584F |
probably damaging |
Het |
Pip5k1c |
A |
G |
10: 81,149,296 (GRCm39) |
E536G |
probably benign |
Het |
Plekhm3 |
A |
G |
1: 64,834,276 (GRCm39) |
S736P |
probably damaging |
Het |
Ppp3cb |
T |
A |
14: 20,573,645 (GRCm39) |
|
probably null |
Het |
Proc |
A |
G |
18: 32,267,925 (GRCm39) |
I71T |
probably damaging |
Het |
Prom2 |
T |
A |
2: 127,380,577 (GRCm39) |
|
probably benign |
Het |
Psd |
T |
C |
19: 46,307,984 (GRCm39) |
T675A |
probably benign |
Het |
Rnf215 |
G |
T |
11: 4,090,305 (GRCm39) |
R341L |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,732,921 (GRCm39) |
|
probably null |
Het |
Sh2d7 |
C |
A |
9: 54,448,105 (GRCm39) |
T42N |
probably benign |
Het |
Sh3glb2 |
C |
T |
2: 30,236,368 (GRCm39) |
G279D |
probably benign |
Het |
Slc25a46 |
A |
G |
18: 31,738,868 (GRCm39) |
|
probably benign |
Het |
Snx17 |
T |
C |
5: 31,354,390 (GRCm39) |
S167P |
probably damaging |
Het |
Snx19 |
A |
G |
9: 30,343,556 (GRCm39) |
N572S |
possibly damaging |
Het |
Sptbn4 |
G |
A |
7: 27,067,104 (GRCm39) |
R1937C |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Srsf11 |
T |
C |
3: 157,722,068 (GRCm39) |
|
probably benign |
Het |
Taar7b |
A |
T |
10: 23,876,581 (GRCm39) |
M249L |
probably benign |
Het |
Tle6 |
G |
A |
10: 81,435,898 (GRCm39) |
Q6* |
probably null |
Het |
Twnk |
G |
T |
19: 44,996,557 (GRCm39) |
R330L |
probably damaging |
Het |
Unc13a |
C |
A |
8: 72,108,949 (GRCm39) |
|
probably benign |
Het |
Vmn2r107 |
A |
G |
17: 20,577,006 (GRCm39) |
T335A |
possibly damaging |
Het |
Wdtc1 |
A |
T |
4: 133,024,789 (GRCm39) |
S469R |
possibly damaging |
Het |
Ypel1 |
A |
G |
16: 16,921,466 (GRCm39) |
Y73H |
probably benign |
Het |
Zfp382 |
A |
T |
7: 29,833,162 (GRCm39) |
Y271F |
probably benign |
Het |
|
Other mutations in Prdm9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01302:Prdm9
|
APN |
17 |
15,773,608 (GRCm39) |
missense |
probably benign |
0.11 |
IGL02322:Prdm9
|
APN |
17 |
15,783,110 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02354:Prdm9
|
APN |
17 |
15,783,109 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02361:Prdm9
|
APN |
17 |
15,783,109 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03120:Prdm9
|
APN |
17 |
15,765,193 (GRCm39) |
missense |
probably benign |
|
berlin
|
UTSW |
17 |
15,782,702 (GRCm39) |
missense |
probably damaging |
0.96 |
R0173:Prdm9
|
UTSW |
17 |
15,764,297 (GRCm39) |
missense |
probably benign |
0.00 |
R0173:Prdm9
|
UTSW |
17 |
15,764,275 (GRCm39) |
missense |
probably benign |
0.02 |
R0309:Prdm9
|
UTSW |
17 |
15,777,646 (GRCm39) |
missense |
probably damaging |
0.98 |
R1420:Prdm9
|
UTSW |
17 |
15,764,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R3498:Prdm9
|
UTSW |
17 |
15,783,207 (GRCm39) |
splice site |
probably benign |
|
R3714:Prdm9
|
UTSW |
17 |
15,777,623 (GRCm39) |
nonsense |
probably null |
|
R4118:Prdm9
|
UTSW |
17 |
15,764,275 (GRCm39) |
missense |
probably benign |
0.02 |
R4369:Prdm9
|
UTSW |
17 |
15,764,708 (GRCm39) |
missense |
probably benign |
0.14 |
R4691:Prdm9
|
UTSW |
17 |
15,773,640 (GRCm39) |
missense |
probably benign |
0.03 |
R4742:Prdm9
|
UTSW |
17 |
15,773,783 (GRCm39) |
missense |
probably damaging |
0.99 |
R4910:Prdm9
|
UTSW |
17 |
15,764,585 (GRCm39) |
missense |
probably benign |
0.08 |
R5056:Prdm9
|
UTSW |
17 |
15,782,679 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5130:Prdm9
|
UTSW |
17 |
15,764,729 (GRCm39) |
missense |
probably benign |
0.00 |
R5175:Prdm9
|
UTSW |
17 |
15,777,713 (GRCm39) |
missense |
probably benign |
0.04 |
R5187:Prdm9
|
UTSW |
17 |
15,783,155 (GRCm39) |
missense |
probably damaging |
0.98 |
R5213:Prdm9
|
UTSW |
17 |
15,775,416 (GRCm39) |
missense |
probably damaging |
0.98 |
R5270:Prdm9
|
UTSW |
17 |
15,773,625 (GRCm39) |
missense |
probably benign |
0.16 |
R5635:Prdm9
|
UTSW |
17 |
15,782,702 (GRCm39) |
missense |
probably damaging |
0.96 |
R6753:Prdm9
|
UTSW |
17 |
15,765,218 (GRCm39) |
missense |
probably benign |
0.00 |
R6857:Prdm9
|
UTSW |
17 |
15,764,518 (GRCm39) |
missense |
probably benign |
0.04 |
R7041:Prdm9
|
UTSW |
17 |
15,765,257 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7355:Prdm9
|
UTSW |
17 |
15,765,497 (GRCm39) |
missense |
probably benign |
0.01 |
R7410:Prdm9
|
UTSW |
17 |
15,765,259 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7570:Prdm9
|
UTSW |
17 |
15,775,914 (GRCm39) |
missense |
probably benign |
0.14 |
R7571:Prdm9
|
UTSW |
17 |
15,783,526 (GRCm39) |
missense |
probably damaging |
0.98 |
R7575:Prdm9
|
UTSW |
17 |
15,764,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R7593:Prdm9
|
UTSW |
17 |
15,764,867 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7664:Prdm9
|
UTSW |
17 |
15,775,833 (GRCm39) |
missense |
probably damaging |
0.99 |
R7755:Prdm9
|
UTSW |
17 |
15,765,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R7817:Prdm9
|
UTSW |
17 |
15,779,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R7875:Prdm9
|
UTSW |
17 |
15,773,804 (GRCm39) |
nonsense |
probably null |
|
R8110:Prdm9
|
UTSW |
17 |
15,774,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R8222:Prdm9
|
UTSW |
17 |
15,765,035 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8405:Prdm9
|
UTSW |
17 |
15,764,456 (GRCm39) |
missense |
probably benign |
0.22 |
R8695:Prdm9
|
UTSW |
17 |
15,765,019 (GRCm39) |
missense |
probably damaging |
1.00 |
R8947:Prdm9
|
UTSW |
17 |
15,764,270 (GRCm39) |
missense |
possibly damaging |
0.96 |
X0021:Prdm9
|
UTSW |
17 |
15,773,734 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2015-04-16 |