Incidental Mutation 'IGL03211:Prdm13'
| ID |
413314 |
| 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 # |
IGL03211
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
21677480-21685963 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21678492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 666
(H666R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076206]
[ENSMUST00000095141]
|
| AlphaFold |
E9PZZ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076206
AA Change: H618R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000075562
Gene: ENSMUSG00000040478
AA Change: H618R
| 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 damaging
Transcript: ENSMUST00000095141
AA Change: H666R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092761
Gene: ENSMUSG00000040478
AA Change: H666R
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bmp7 |
C |
T |
2: 172,714,676 (GRCm39) |
V378I |
possibly damaging |
Het |
| Cd209b |
G |
T |
8: 3,968,830 (GRCm39) |
|
probably benign |
Het |
| Cilp |
A |
T |
9: 65,187,457 (GRCm39) |
Q1184L |
probably benign |
Het |
| Cysltr2 |
A |
T |
14: 73,267,155 (GRCm39) |
M185K |
possibly damaging |
Het |
| Dcaf6 |
A |
G |
1: 165,250,502 (GRCm39) |
F121L |
possibly damaging |
Het |
| Dnajc8 |
T |
A |
4: 132,272,048 (GRCm39) |
Y95N |
possibly damaging |
Het |
| Ebf3 |
A |
G |
7: 136,833,033 (GRCm39) |
V214A |
probably benign |
Het |
| Elavl3 |
A |
G |
9: 21,929,974 (GRCm39) |
V310A |
probably damaging |
Het |
| Emc2 |
C |
T |
15: 43,371,068 (GRCm39) |
R131* |
probably null |
Het |
| Hcn4 |
G |
A |
9: 58,765,434 (GRCm39) |
V639M |
unknown |
Het |
| Kif21a |
T |
G |
15: 90,882,166 (GRCm39) |
D46A |
possibly damaging |
Het |
| Kitl |
T |
C |
10: 99,916,721 (GRCm39) |
S175P |
probably benign |
Het |
| Klhl32 |
C |
T |
4: 24,792,616 (GRCm39) |
|
probably null |
Het |
| Plcg1 |
C |
T |
2: 160,601,611 (GRCm39) |
T972I |
possibly damaging |
Het |
| Rap1gap |
G |
A |
4: 137,443,157 (GRCm39) |
|
probably null |
Het |
| Rdh7 |
T |
C |
10: 127,723,492 (GRCm39) |
N121S |
probably benign |
Het |
| Ric8b |
T |
A |
10: 84,837,657 (GRCm39) |
I488N |
probably damaging |
Het |
| Slc38a2 |
A |
T |
15: 96,596,153 (GRCm39) |
|
probably null |
Het |
| Slc9a9 |
G |
A |
9: 95,020,043 (GRCm39) |
|
probably benign |
Het |
| Tk2 |
T |
A |
8: 104,970,073 (GRCm39) |
I64F |
probably damaging |
Het |
| Virma |
G |
A |
4: 11,548,770 (GRCm39) |
W1776* |
probably null |
Het |
| Vrk1 |
C |
T |
12: 106,002,847 (GRCm39) |
A15V |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 101,992,778 (GRCm39) |
|
probably benign |
Het |
| Wfdc10 |
T |
C |
2: 164,499,172 (GRCm39) |
V94A |
probably benign |
Het |
| Zfp780b |
A |
T |
7: 27,662,600 (GRCm39) |
C652S |
possibly damaging |
Het |
|
| Other mutations in Prdm13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02940:Prdm13
|
APN |
4 |
21,683,421 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2016-08-02 |
Incidental Mutation