Incidental Mutation 'R4453:Prdm13'
| ID |
329041 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prdm13
|
| Ensembl Gene |
ENSMUSG00000040478 |
| Gene Name |
PR domain containing 13 |
| Synonyms |
|
| MMRRC Submission |
041152-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4453 (G1)
|
| Quality Score |
85 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
21677480-21685963 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 21679464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 342
(A342E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076206]
[ENSMUST00000095141]
|
| AlphaFold |
E9PZZ1 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000076206
AA Change: A294E
|
| SMART Domains |
Protein: ENSMUSP00000075562
Gene: ENSMUSG00000040478
AA Change: A294E
| 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: A342E
|
| SMART Domains |
Protein: ENSMUSP00000092761
Gene: ENSMUSG00000040478
AA Change: A342E
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano7 |
A |
G |
1: 93,322,075 (GRCm39) |
D361G |
probably damaging |
Het |
| Atp10a |
TGGCGGCGGC |
TGGCGGC |
7: 58,308,248 (GRCm39) |
|
probably benign |
Het |
| Ccdc86 |
G |
T |
19: 10,925,883 (GRCm39) |
P239T |
probably damaging |
Het |
| Ces2h |
G |
A |
8: 105,741,288 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
A |
2: 91,379,190 (GRCm39) |
S43R |
probably damaging |
Het |
| Cpne6 |
G |
A |
14: 55,750,054 (GRCm39) |
V62M |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,642,664 (GRCm39) |
C161R |
probably damaging |
Het |
| Dnajc10 |
T |
C |
2: 80,176,967 (GRCm39) |
S641P |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Grm2 |
G |
A |
9: 106,531,078 (GRCm39) |
T137I |
probably damaging |
Het |
| Gusb |
A |
G |
5: 130,027,324 (GRCm39) |
V327A |
possibly damaging |
Het |
| Helz |
C |
T |
11: 107,563,455 (GRCm39) |
Q1631* |
probably null |
Het |
| Hspa1a |
A |
G |
17: 35,189,269 (GRCm39) |
Y545H |
probably benign |
Het |
| Hus1 |
A |
T |
11: 8,956,035 (GRCm39) |
M166K |
probably damaging |
Het |
| Kcnh1 |
C |
A |
1: 192,187,825 (GRCm39) |
T762K |
probably damaging |
Het |
| Limd1 |
C |
A |
9: 123,309,359 (GRCm39) |
Q353K |
possibly damaging |
Het |
| Lipe |
T |
A |
7: 25,097,115 (GRCm39) |
K276I |
probably damaging |
Het |
| Ntpcr |
G |
A |
8: 126,462,929 (GRCm39) |
V49I |
probably benign |
Het |
| Or6c70 |
T |
C |
10: 129,710,530 (GRCm39) |
N32S |
probably null |
Het |
| Ppp1r1c |
A |
G |
2: 79,538,575 (GRCm39) |
I20V |
possibly damaging |
Het |
| Prkd3 |
C |
A |
17: 79,290,975 (GRCm39) |
R180L |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 17,099,274 (GRCm39) |
F1593L |
probably benign |
Het |
| Rims2 |
T |
A |
15: 39,155,603 (GRCm39) |
C95S |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,528,272 (GRCm39) |
M1510V |
probably benign |
Het |
| Taf12 |
A |
G |
4: 132,010,306 (GRCm39) |
I92V |
probably benign |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Tssk5 |
G |
A |
15: 76,258,743 (GRCm39) |
R48C |
probably benign |
Het |
| Wwtr1 |
T |
C |
3: 57,482,680 (GRCm39) |
|
probably null |
Het |
| Zfp286 |
C |
G |
11: 62,671,030 (GRCm39) |
G348R |
probably damaging |
Het |
| Zfp473 |
T |
A |
7: 44,382,678 (GRCm39) |
T552S |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,763,465 (GRCm39) |
F1371L |
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 |
|
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 |
|
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'- TCCGCTGTACACCGTGAAG -3'
(R):5'- CGTCCAGGCAATCGCTTTG -3'
Sequencing Primer
(F):5'- TCCACGTGCTTGAAGGC -3'
(R):5'- GCTTTGCGACCCCAAGCTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation