Incidental Mutation 'R1056:Prdm13'
| ID |
94344 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prdm13
|
| Ensembl Gene |
ENSMUSG00000040478 |
| Gene Name |
PR domain containing 13 |
| Synonyms |
|
| MMRRC Submission |
039146-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1056 (G1)
|
| Quality Score |
196 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
21677480-21685963 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21678544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 649
(K649E)
|
| 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: K601E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000075562
Gene: ENSMUSG00000040478
AA Change: K601E
| 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: K649E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092761
Gene: ENSMUSG00000040478
AA Change: K649E
| 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: 98.2%
- 10x: 96.1%
- 20x: 92.7%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,924,295 (GRCm39) |
Y1649C |
probably damaging |
Het |
| Abcc10 |
A |
C |
17: 46,614,880 (GRCm39) |
C1459W |
possibly damaging |
Het |
| Amfr |
A |
T |
8: 94,712,097 (GRCm39) |
F278I |
probably benign |
Het |
| Anks1b |
G |
T |
10: 90,757,291 (GRCm39) |
|
probably null |
Het |
| Bak1 |
A |
G |
17: 27,240,247 (GRCm39) |
S147P |
possibly damaging |
Het |
| Bltp1 |
C |
A |
3: 37,037,602 (GRCm39) |
H2469N |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 37,098,829 (GRCm39) |
M1152K |
probably benign |
Het |
| C7 |
T |
C |
15: 5,075,260 (GRCm39) |
N144S |
possibly damaging |
Het |
| Casd1 |
T |
C |
6: 4,641,967 (GRCm39) |
V748A |
probably benign |
Het |
| Ccdc168 |
C |
T |
1: 44,100,087 (GRCm39) |
G337D |
probably damaging |
Het |
| Ccdc180 |
T |
C |
4: 45,916,375 (GRCm39) |
S859P |
probably benign |
Het |
| Ccne2 |
T |
C |
4: 11,192,707 (GRCm39) |
S2P |
probably damaging |
Het |
| Cdc42bpg |
T |
A |
19: 6,364,051 (GRCm39) |
I541N |
probably benign |
Het |
| Cgnl1 |
T |
A |
9: 71,633,177 (GRCm39) |
N58I |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,822,402 (GRCm39) |
S832P |
possibly damaging |
Het |
| Chl1 |
A |
T |
6: 103,652,038 (GRCm39) |
Y318F |
possibly damaging |
Het |
| Coq2 |
G |
T |
5: 100,805,813 (GRCm39) |
N274K |
probably benign |
Het |
| Crhr2 |
A |
T |
6: 55,077,720 (GRCm39) |
V214E |
probably damaging |
Het |
| Dgkg |
G |
C |
16: 22,419,291 (GRCm39) |
P70A |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,147,731 (GRCm39) |
I966M |
probably benign |
Het |
| Eif5b |
C |
G |
1: 38,061,248 (GRCm39) |
R380G |
unknown |
Het |
| Fat4 |
T |
A |
3: 38,945,541 (GRCm39) |
I1478N |
probably damaging |
Het |
| Impact |
A |
T |
18: 13,109,581 (GRCm39) |
I92L |
probably benign |
Het |
| Ly6c2 |
A |
G |
15: 74,983,445 (GRCm39) |
|
probably null |
Het |
| Lypd6b |
G |
A |
2: 49,837,468 (GRCm39) |
V147I |
possibly damaging |
Het |
| Mdga2 |
T |
C |
12: 66,769,894 (GRCm39) |
D192G |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,586,344 (GRCm39) |
|
probably null |
Het |
| Myo9a |
C |
T |
9: 59,739,484 (GRCm39) |
T732I |
possibly damaging |
Het |
| Myrf |
C |
T |
19: 10,200,850 (GRCm39) |
M274I |
probably benign |
Het |
| Nfx1 |
G |
A |
4: 41,003,057 (GRCm39) |
R686Q |
probably damaging |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Oog4 |
T |
C |
4: 143,164,581 (GRCm39) |
T245A |
possibly damaging |
Het |
| Or1a1b |
C |
T |
11: 74,097,608 (GRCm39) |
V145I |
probably benign |
Het |
| Or52e3 |
A |
T |
7: 102,869,625 (GRCm39) |
E233D |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,590,069 (GRCm39) |
K790* |
probably null |
Het |
| Pcm1 |
A |
G |
8: 41,774,937 (GRCm39) |
E1668G |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,455,360 (GRCm39) |
N4040K |
probably damaging |
Het |
| Podnl1 |
T |
A |
8: 84,855,905 (GRCm39) |
S222T |
probably benign |
Het |
| Ppil4 |
A |
G |
10: 7,675,396 (GRCm39) |
T182A |
possibly damaging |
Het |
| Prob1 |
A |
T |
18: 35,786,663 (GRCm39) |
H530Q |
probably benign |
Het |
| Rbbp4 |
A |
T |
4: 129,211,442 (GRCm39) |
M404K |
probably damaging |
Het |
| Rilpl1 |
A |
T |
5: 124,631,900 (GRCm39) |
F149I |
probably damaging |
Het |
| Sema6c |
T |
A |
3: 95,078,527 (GRCm39) |
S543T |
probably benign |
Het |
| Sh3rf3 |
G |
T |
10: 58,842,904 (GRCm39) |
W290L |
probably damaging |
Het |
| Slc2a12 |
T |
G |
10: 22,541,350 (GRCm39) |
S402A |
probably benign |
Het |
| Tas2r131 |
T |
A |
6: 132,934,030 (GRCm39) |
I260F |
possibly damaging |
Het |
| Tasp1 |
A |
G |
2: 139,850,684 (GRCm39) |
I113T |
possibly damaging |
Het |
| Tnrc18 |
G |
A |
5: 142,759,614 (GRCm39) |
R741* |
probably null |
Het |
| Ube2o |
G |
T |
11: 116,437,290 (GRCm39) |
D244E |
probably damaging |
Het |
| Vmn1r206 |
A |
T |
13: 22,804,784 (GRCm39) |
M141K |
probably benign |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp747 |
A |
G |
7: 126,973,760 (GRCm39) |
S137P |
probably benign |
Het |
| Zfp951 |
A |
T |
5: 104,963,151 (GRCm39) |
H138Q |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGTCAGTGAAGCAGACATCCACATC -3'
(R):5'- TGCTCAAATACCCCGAGTCCATCTC -3'
Sequencing Primer
(F):5'- TCCAGAGCATAGCTGGGC -3'
(R):5'- GAGTCCATCTCCTATCTGAGTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation