Incidental Mutation 'IGL02940:Prdm13'
| ID |
364477 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prdm13
|
| Ensembl Gene |
ENSMUSG00000040478 |
| Gene Name |
PR domain containing 13 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02940
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
21677480-21685963 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 21683421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 180
(K180*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076206]
[ENSMUST00000095141]
|
| AlphaFold |
E9PZZ1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000076206
AA Change: K132*
|
| SMART Domains |
Protein: ENSMUSP00000075562
Gene: ENSMUSG00000040478
AA Change: K132*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SET
|
2 |
118 |
4e-72 |
BLAST |
|
PDB:3EP0|B
|
56 |
132 |
1e-8 |
PDB |
|
ZnF_C2H2
|
137 |
159 |
3.34e-2 |
SMART |
|
low complexity region
|
204 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
350 |
N/A |
INTRINSIC |
|
low complexity region
|
353 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
392 |
404 |
N/A |
INTRINSIC |
|
low complexity region
|
546 |
571 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
572 |
594 |
4.4e-2 |
SMART |
|
ZnF_C2H2
|
600 |
622 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
629 |
652 |
2.79e-4 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000095141
AA Change: K180*
|
| SMART Domains |
Protein: ENSMUSP00000092761
Gene: ENSMUSG00000040478
AA Change: K180*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SET
|
42 |
166 |
1e-73 |
BLAST |
|
PDB:3EP0|B
|
104 |
180 |
1e-8 |
PDB |
|
ZnF_C2H2
|
185 |
207 |
3.34e-2 |
SMART |
|
low complexity region
|
252 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
279 |
300 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
323 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
384 |
398 |
N/A |
INTRINSIC |
|
low complexity region
|
401 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
594 |
619 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
620 |
642 |
4.4e-2 |
SMART |
|
ZnF_C2H2
|
648 |
670 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
677 |
700 |
2.79e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139255
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139568
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144160
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149516
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele show a specific reduction in the number of GABAergic and glycinergic amacrine cells, a thin retinal inner nuclear layer, altered retinal inner plexiform layer morphology, and abnormally increased spatial, temporal, and contrast sensitivities in optokinetic reponses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg3 |
T |
A |
8: 95,760,084 (GRCm39) |
V101D |
possibly damaging |
Het |
| Brca1 |
T |
C |
11: 101,380,738 (GRCm39) |
D1765G |
probably benign |
Het |
| Cadps2 |
T |
C |
6: 23,496,808 (GRCm39) |
K450R |
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,885,636 (GRCm39) |
|
probably null |
Het |
| Dbh |
A |
G |
2: 27,058,321 (GRCm39) |
Y163C |
probably damaging |
Het |
| Drc7 |
T |
A |
8: 95,800,925 (GRCm39) |
I649N |
probably damaging |
Het |
| Dst |
G |
A |
1: 34,328,668 (GRCm39) |
A7097T |
probably benign |
Het |
| Fbxo46 |
A |
G |
7: 18,869,537 (GRCm39) |
H52R |
probably benign |
Het |
| Gm9944 |
T |
C |
4: 144,179,709 (GRCm39) |
|
probably benign |
Het |
| Lsm14a |
G |
T |
7: 34,070,596 (GRCm39) |
S100* |
probably null |
Het |
| Mrc2 |
C |
T |
11: 105,231,997 (GRCm39) |
R850C |
probably damaging |
Het |
| Musk |
A |
G |
4: 58,373,364 (GRCm39) |
D763G |
probably damaging |
Het |
| Ncan |
C |
T |
8: 70,562,735 (GRCm39) |
V508I |
probably benign |
Het |
| Or4k35 |
A |
T |
2: 111,100,073 (GRCm39) |
L213Q |
probably damaging |
Het |
| Pgls |
C |
T |
8: 72,046,741 (GRCm39) |
S18L |
probably damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,467,000 (GRCm39) |
T98A |
probably damaging |
Het |
| Ppp1r36dn |
A |
C |
12: 76,497,944 (GRCm39) |
|
noncoding transcript |
Het |
| Rai1 |
T |
C |
11: 60,077,844 (GRCm39) |
V636A |
probably benign |
Het |
| Setd5 |
T |
C |
6: 113,091,899 (GRCm39) |
F240S |
possibly damaging |
Het |
| Slco1a5 |
A |
G |
6: 142,187,731 (GRCm39) |
L536P |
probably damaging |
Het |
| Stk39 |
C |
T |
2: 68,051,243 (GRCm39) |
|
probably null |
Het |
| Tenm2 |
T |
C |
11: 35,932,471 (GRCm39) |
T1707A |
probably damaging |
Het |
| Tlr2 |
A |
T |
3: 83,743,781 (GRCm39) |
D767E |
probably benign |
Het |
| Tlr7 |
C |
T |
X: 166,090,830 (GRCm39) |
V219I |
probably benign |
Het |
| Tmprss7 |
A |
G |
16: 45,476,818 (GRCm39) |
S815P |
probably damaging |
Het |
| Trav12-1 |
T |
A |
14: 53,776,017 (GRCm39) |
W57R |
probably damaging |
Het |
| Uxt |
T |
C |
X: 20,826,025 (GRCm39) |
E66G |
possibly damaging |
Het |
| Vmn2r45 |
A |
T |
7: 8,475,369 (GRCm39) |
M553K |
probably damaging |
Het |
| Vmn2r67 |
A |
G |
7: 84,785,951 (GRCm39) |
W685R |
probably benign |
Het |
| Vstm5 |
A |
C |
9: 15,168,962 (GRCm39) |
D144A |
probably damaging |
Het |
| Zfp592 |
A |
G |
7: 80,674,575 (GRCm39) |
H513R |
probably damaging |
Het |
| Zfp830 |
T |
A |
11: 82,656,295 (GRCm39) |
|
probably benign |
Het |
| Zfp990 |
A |
G |
4: 145,261,492 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Prdm13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03211:Prdm13
|
APN |
4 |
21,678,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0363:Prdm13
|
UTSW |
4 |
21,679,737 (GRCm39) |
missense |
unknown |
|
|
R0512:Prdm13
|
UTSW |
4 |
21,678,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0726:Prdm13
|
UTSW |
4 |
21,683,914 (GRCm39) |
missense |
unknown |
|
|
R1056:Prdm13
|
UTSW |
4 |
21,678,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1433:Prdm13
|
UTSW |
4 |
21,678,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2005:Prdm13
|
UTSW |
4 |
21,685,695 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R2292:Prdm13
|
UTSW |
4 |
21,683,914 (GRCm39) |
missense |
unknown |
|
|
R2382:Prdm13
|
UTSW |
4 |
21,678,277 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3620:Prdm13
|
UTSW |
4 |
21,683,532 (GRCm39) |
missense |
unknown |
|
|
R4039:Prdm13
|
UTSW |
4 |
21,685,774 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4417:Prdm13
|
UTSW |
4 |
21,678,756 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4453:Prdm13
|
UTSW |
4 |
21,679,464 (GRCm39) |
missense |
unknown |
|
|
R4850:Prdm13
|
UTSW |
4 |
21,678,243 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4864:Prdm13
|
UTSW |
4 |
21,685,543 (GRCm39) |
missense |
unknown |
|
|
R4934:Prdm13
|
UTSW |
4 |
21,678,223 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5138:Prdm13
|
UTSW |
4 |
21,679,507 (GRCm39) |
missense |
unknown |
|
|
R5304:Prdm13
|
UTSW |
4 |
21,678,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5394:Prdm13
|
UTSW |
4 |
21,679,455 (GRCm39) |
missense |
unknown |
|
|
R5909:Prdm13
|
UTSW |
4 |
21,683,894 (GRCm39) |
missense |
unknown |
|
|
R5964:Prdm13
|
UTSW |
4 |
21,683,852 (GRCm39) |
nonsense |
probably null |
|
|
R6261:Prdm13
|
UTSW |
4 |
21,678,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7166:Prdm13
|
UTSW |
4 |
21,683,528 (GRCm39) |
missense |
unknown |
|
|
R7175:Prdm13
|
UTSW |
4 |
21,679,473 (GRCm39) |
missense |
unknown |
|
|
R7549:Prdm13
|
UTSW |
4 |
21,679,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7966:Prdm13
|
UTSW |
4 |
21,679,932 (GRCm39) |
missense |
unknown |
|
|
R8319:Prdm13
|
UTSW |
4 |
21,679,327 (GRCm39) |
missense |
unknown |
|
|
R8326:Prdm13
|
UTSW |
4 |
21,679,557 (GRCm39) |
missense |
unknown |
|
|
R8701:Prdm13
|
UTSW |
4 |
21,678,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8924:Prdm13
|
UTSW |
4 |
21,679,125 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8947:Prdm13
|
UTSW |
4 |
21,678,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9165:Prdm13
|
UTSW |
4 |
21,679,659 (GRCm39) |
missense |
unknown |
|
|
R9168:Prdm13
|
UTSW |
4 |
21,679,659 (GRCm39) |
missense |
unknown |
|
|
R9170:Prdm13
|
UTSW |
4 |
21,679,659 (GRCm39) |
missense |
unknown |
|
|
R9171:Prdm13
|
UTSW |
4 |
21,679,659 (GRCm39) |
missense |
unknown |
|
|
Z1176:Prdm13
|
UTSW |
4 |
21,679,518 (GRCm39) |
missense |
unknown |
|
|
Z1177:Prdm13
|
UTSW |
4 |
21,679,623 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation