Incidental Mutation 'R3620:Prdm13'
| ID |
268589 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prdm13
|
| Ensembl Gene |
ENSMUSG00000040478 |
| Gene Name |
PR domain containing 13 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3620 (G1)
|
| Quality Score |
137 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
21677480-21685963 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21683532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 143
(Y143H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076206]
[ENSMUST00000095141]
|
| AlphaFold |
E9PZZ1 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000076206
AA Change: Y95H
|
| SMART Domains |
Protein: ENSMUSP00000075562
Gene: ENSMUSG00000040478
AA Change: Y95H
| 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 |
unknown
Transcript: ENSMUST00000095141
AA Change: Y143H
|
| SMART Domains |
Protein: ENSMUSP00000092761
Gene: ENSMUSG00000040478
AA Change: Y143H
| 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
|
| Meta Mutation Damage Score |
0.1611 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
100% (44/44) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,226,864 (GRCm39) |
M473T |
probably benign |
Het |
| Asxl1 |
C |
A |
2: 153,199,075 (GRCm39) |
R76S |
probably damaging |
Het |
| Bhlhe41 |
C |
A |
6: 145,808,733 (GRCm39) |
G360C |
possibly damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,380,227 (GRCm39) |
I201T |
probably benign |
Het |
| Ccng1 |
T |
C |
11: 40,642,992 (GRCm39) |
T152A |
probably benign |
Het |
| Cep192 |
T |
C |
18: 67,962,928 (GRCm39) |
V648A |
probably benign |
Het |
| Cldn16 |
T |
A |
16: 26,296,302 (GRCm39) |
F93I |
possibly damaging |
Het |
| Csmd1 |
T |
C |
8: 16,042,684 (GRCm39) |
S2350G |
probably benign |
Het |
| Enpp6 |
T |
C |
8: 47,518,540 (GRCm39) |
W223R |
probably benign |
Het |
| Fah |
T |
C |
7: 84,238,159 (GRCm39) |
|
probably null |
Het |
| Fat2 |
A |
T |
11: 55,147,521 (GRCm39) |
V3907D |
probably damaging |
Het |
| Fsip2 |
C |
A |
2: 82,810,602 (GRCm39) |
T2307K |
probably benign |
Het |
| Gcg |
T |
C |
2: 62,307,279 (GRCm39) |
E94G |
probably damaging |
Het |
| Gramd1b |
C |
A |
9: 40,366,842 (GRCm39) |
R42L |
probably benign |
Het |
| H2bc9 |
C |
A |
13: 23,727,324 (GRCm39) |
V67L |
probably benign |
Het |
| Hdc |
T |
A |
2: 126,458,187 (GRCm39) |
Y45F |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Igsf10 |
T |
G |
3: 59,243,752 (GRCm39) |
D194A |
probably damaging |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Lrpprc |
A |
T |
17: 85,077,452 (GRCm39) |
C412S |
probably benign |
Het |
| Mga |
T |
A |
2: 119,747,149 (GRCm39) |
D433E |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,369,468 (GRCm39) |
S743C |
possibly damaging |
Het |
| Myo15b |
T |
G |
11: 115,762,013 (GRCm39) |
L1176R |
possibly damaging |
Het |
| Ndor1 |
T |
C |
2: 25,138,047 (GRCm39) |
Q526R |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,362,508 (GRCm39) |
I1429T |
probably damaging |
Het |
| Or1d2 |
T |
A |
11: 74,256,050 (GRCm39) |
L185Q |
probably damaging |
Het |
| Or4c126 |
T |
C |
2: 89,824,196 (GRCm39) |
I153T |
probably damaging |
Het |
| Or4k38 |
T |
A |
2: 111,165,689 (GRCm39) |
I245L |
probably benign |
Het |
| Otogl |
T |
C |
10: 107,710,232 (GRCm39) |
D619G |
probably damaging |
Het |
| Pa2g4 |
C |
G |
10: 128,399,464 (GRCm39) |
E67Q |
probably damaging |
Het |
| Pnpla1 |
C |
T |
17: 29,096,362 (GRCm39) |
A147V |
probably damaging |
Het |
| Rad23a |
A |
G |
8: 85,567,193 (GRCm39) |
M1T |
probably null |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Slc10a2 |
A |
T |
8: 5,154,909 (GRCm39) |
I92N |
probably damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,185,222 (GRCm39) |
F111L |
probably damaging |
Het |
| Sox11 |
T |
C |
12: 27,391,735 (GRCm39) |
T225A |
probably benign |
Het |
| Thbs1 |
T |
C |
2: 117,951,640 (GRCm39) |
V820A |
probably benign |
Het |
| Unc45a |
G |
T |
7: 79,983,799 (GRCm39) |
N332K |
possibly damaging |
Het |
| Vmn1r159 |
A |
C |
7: 22,542,258 (GRCm39) |
I258S |
possibly damaging |
Het |
| Wdr31 |
A |
T |
4: 62,375,701 (GRCm39) |
F251L |
possibly damaging |
Het |
| Wdr43 |
C |
T |
17: 71,957,601 (GRCm39) |
T530M |
probably benign |
Het |
| Zfp445 |
C |
T |
9: 122,681,833 (GRCm39) |
A703T |
probably benign |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAACTGGACTCTACTCTTGCTC -3'
(R):5'- GGCAGCCAAGCATTTCATGAG -3'
Sequencing Primer
(F):5'- TCACCCTCGCTGTTGGG -3'
(R):5'- TGAAAGGCAAGAATTCTCTCCTC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation