Incidental Mutation 'R8319:Prdm13'
ID |
641845 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prdm13
|
Ensembl Gene |
ENSMUSG00000040478 |
Gene Name |
PR domain containing 13 |
Synonyms |
|
MMRRC Submission |
067856-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8319 (G1)
|
Quality Score |
159.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
21677480-21685963 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 21679327 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 388
(H388N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092761
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076206]
[ENSMUST00000095141]
|
AlphaFold |
E9PZZ1 |
Predicted Effect |
unknown
Transcript: ENSMUST00000076206
AA Change: H340N
|
SMART Domains |
Protein: ENSMUSP00000075562 Gene: ENSMUSG00000040478 AA Change: H340N
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: H388N
|
SMART Domains |
Protein: ENSMUSP00000092761 Gene: ENSMUSG00000040478 AA Change: H388N
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921517D22Rik |
A |
T |
13: 59,838,486 (GRCm39) |
D115E |
probably benign |
Het |
Abcc1 |
T |
A |
16: 14,214,315 (GRCm39) |
L197Q |
probably damaging |
Het |
Adamts14 |
T |
G |
10: 61,057,706 (GRCm39) |
N547T |
probably benign |
Het |
Ampd3 |
T |
A |
7: 110,394,982 (GRCm39) |
S301R |
probably benign |
Het |
Atg9a |
G |
A |
1: 75,162,342 (GRCm39) |
Q523* |
probably null |
Het |
Atl1 |
A |
T |
12: 70,002,093 (GRCm39) |
T351S |
probably damaging |
Het |
Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
Cacna1c |
T |
C |
6: 118,614,735 (GRCm39) |
I1315V |
|
Het |
Col12a1 |
C |
T |
9: 79,555,979 (GRCm39) |
G2013R |
probably damaging |
Het |
Cpne2 |
A |
G |
8: 95,280,040 (GRCm39) |
D153G |
probably benign |
Het |
Cryzl1 |
T |
C |
16: 91,489,251 (GRCm39) |
S205G |
probably benign |
Het |
Cux1 |
C |
T |
5: 136,594,251 (GRCm39) |
A5T |
probably benign |
Het |
Ddx60 |
T |
C |
8: 62,395,669 (GRCm39) |
|
probably null |
Het |
Dnajc13 |
G |
A |
9: 104,067,590 (GRCm39) |
P1190S |
probably benign |
Het |
Fbxw7 |
T |
A |
3: 84,881,859 (GRCm39) |
V526E |
|
Het |
Fig4 |
C |
A |
10: 41,139,097 (GRCm39) |
G369C |
probably damaging |
Het |
Gabra1 |
C |
T |
11: 42,026,315 (GRCm39) |
A326T |
probably damaging |
Het |
Gbe1 |
G |
A |
16: 70,284,964 (GRCm39) |
G429S |
probably benign |
Het |
Gtf3c5 |
A |
T |
2: 28,460,506 (GRCm39) |
H364Q |
probably benign |
Het |
Hcfc2 |
T |
A |
10: 82,574,201 (GRCm39) |
I125N |
probably damaging |
Het |
Hnrnpul1 |
A |
T |
7: 25,453,902 (GRCm39) |
D53E |
probably benign |
Het |
Ift56 |
T |
A |
6: 38,382,880 (GRCm39) |
H338Q |
probably damaging |
Het |
Il18 |
A |
T |
9: 50,492,818 (GRCm39) |
D128V |
possibly damaging |
Het |
Intu |
T |
A |
3: 40,608,202 (GRCm39) |
S71R |
probably damaging |
Het |
Klhl6 |
T |
C |
16: 19,775,940 (GRCm39) |
E206G |
possibly damaging |
Het |
Lcor |
T |
A |
19: 41,571,343 (GRCm39) |
S179T |
probably damaging |
Het |
Mcub |
A |
G |
3: 129,727,328 (GRCm39) |
F93L |
probably damaging |
Het |
Mdga2 |
T |
C |
12: 67,267,803 (GRCm39) |
Y5C |
unknown |
Het |
Naip1 |
C |
A |
13: 100,565,721 (GRCm39) |
V354L |
probably benign |
Het |
Naip5 |
A |
G |
13: 100,358,167 (GRCm39) |
V1023A |
probably benign |
Het |
Ndufaf1 |
A |
G |
2: 119,490,568 (GRCm39) |
L166P |
probably damaging |
Het |
Ninl |
A |
T |
2: 150,801,827 (GRCm39) |
L147H |
probably damaging |
Het |
Or4c12 |
A |
G |
2: 89,774,024 (GRCm39) |
V145A |
possibly damaging |
Het |
Or51b17 |
A |
G |
7: 103,542,636 (GRCm39) |
I102T |
probably damaging |
Het |
Otogl |
C |
T |
10: 107,689,127 (GRCm39) |
|
probably null |
Het |
Otulin |
AT |
ATT |
15: 27,606,404 (GRCm39) |
|
probably null |
Het |
Phf11b |
A |
C |
14: 59,576,146 (GRCm39) |
L30R |
probably damaging |
Het |
Pwwp2b |
T |
C |
7: 138,835,099 (GRCm39) |
V180A |
probably damaging |
Het |
Reep4 |
T |
A |
14: 70,783,951 (GRCm39) |
S23T |
probably damaging |
Het |
Rusc2 |
T |
A |
4: 43,425,378 (GRCm39) |
L1161Q |
probably damaging |
Het |
Scgb1b3 |
G |
A |
7: 31,075,404 (GRCm39) |
|
probably null |
Het |
Scn10a |
G |
T |
9: 119,499,455 (GRCm39) |
N279K |
probably benign |
Het |
Smurf2 |
A |
G |
11: 106,715,578 (GRCm39) |
L643S |
probably damaging |
Het |
Sox12 |
G |
A |
2: 152,239,192 (GRCm39) |
P143S |
unknown |
Het |
Specc1 |
C |
T |
11: 62,009,501 (GRCm39) |
T339I |
possibly damaging |
Het |
Tas2r139 |
T |
C |
6: 42,118,720 (GRCm39) |
V284A |
probably benign |
Het |
Thumpd3 |
T |
A |
6: 113,040,107 (GRCm39) |
C330* |
probably null |
Het |
Ttn |
A |
G |
2: 76,537,298 (GRCm39) |
S34877P |
possibly damaging |
Het |
Zfp568 |
T |
C |
7: 29,697,629 (GRCm39) |
S104P |
possibly damaging |
Het |
Zfp933 |
G |
A |
4: 147,912,910 (GRCm39) |
H50Y |
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 |
|
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 |
|
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'- GACTCGGGGTATTTGAGCAG -3'
(R):5'- AATTCCTGGGGATAGTGGGC -3'
Sequencing Primer
(F):5'- TAGAGCAGGTCTCCGCTGTAC -3'
(R):5'- TGCCATTCTACCCAGGCGTG -3'
|
Posted On |
2020-07-28 |