Incidental Mutation 'R0383:Supt20'
| ID |
31061 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Supt20
|
| Ensembl Gene |
ENSMUSG00000027751 |
| Gene Name |
SPT20 SAGA complex component |
| Synonyms |
p38IP, Fam48a, p38 interacting protein, D3Ertd300e |
| MMRRC Submission |
038589-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.939)
|
| Stock # |
R0383 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
54600228-54636187 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 54610570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 124
(L124*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143059
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029315]
[ENSMUST00000170552]
[ENSMUST00000197502]
[ENSMUST00000197502]
[ENSMUST00000199652]
[ENSMUST00000199652]
[ENSMUST00000199655]
[ENSMUST00000199655]
[ENSMUST00000199674]
[ENSMUST00000200439]
[ENSMUST00000200441]
|
| AlphaFold |
Q7TT00 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029315
|
| SMART Domains |
Protein: ENSMUSP00000029315
Gene: ENSMUSG00000027751
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
159 |
N/A |
INTRINSIC |
|
coiled coil region
|
201 |
230 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170552
AA Change: L125*
|
| SMART Domains |
Protein: ENSMUSP00000131454
Gene: ENSMUSG00000027751
AA Change: L125*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spt20
|
63 |
229 |
6.8e-47 |
PFAM |
|
low complexity region
|
425 |
441 |
N/A |
INTRINSIC |
|
low complexity region
|
468 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
488 |
502 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
526 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000197502
AA Change: L124*
|
| SMART Domains |
Protein: ENSMUSP00000143750
Gene: ENSMUSG00000027751
AA Change: L124*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
|
Pfam:Spt20
|
62 |
227 |
1.9e-43 |
PFAM |
|
low complexity region
|
424 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
512 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
574 |
587 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
680 |
N/A |
INTRINSIC |
|
coiled coil region
|
722 |
751 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000197502
AA Change: L124*
|
| SMART Domains |
Protein: ENSMUSP00000143750
Gene: ENSMUSG00000027751
AA Change: L124*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
|
Pfam:Spt20
|
62 |
227 |
1.9e-43 |
PFAM |
|
low complexity region
|
424 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
512 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
574 |
587 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
680 |
N/A |
INTRINSIC |
|
coiled coil region
|
722 |
751 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000199652
AA Change: L124*
|
| SMART Domains |
Protein: ENSMUSP00000142648
Gene: ENSMUSG00000027751
AA Change: L124*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
|
Pfam:Spt20
|
59 |
181 |
1.2e-25 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000199652
AA Change: L124*
|
| SMART Domains |
Protein: ENSMUSP00000142648
Gene: ENSMUSG00000027751
AA Change: L124*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
|
Pfam:Spt20
|
59 |
181 |
1.2e-25 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000199655
AA Change: L124*
|
| SMART Domains |
Protein: ENSMUSP00000143520
Gene: ENSMUSG00000027751
AA Change: L124*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
|
Pfam:Spt20
|
62 |
140 |
5.3e-17 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000199655
AA Change: L124*
|
| SMART Domains |
Protein: ENSMUSP00000143520
Gene: ENSMUSG00000027751
AA Change: L124*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
|
Pfam:Spt20
|
62 |
140 |
5.3e-17 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000199674
AA Change: L124*
|
| SMART Domains |
Protein: ENSMUSP00000142948
Gene: ENSMUSG00000027751
AA Change: L124*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
|
Pfam:Spt20
|
59 |
227 |
3.3e-39 |
PFAM |
|
low complexity region
|
424 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
475 |
N/A |
INTRINSIC |
|
low complexity region
|
486 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
524 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000200439
AA Change: L124*
|
| SMART Domains |
Protein: ENSMUSP00000143059
Gene: ENSMUSG00000027751
AA Change: L124*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
|
Pfam:Spt20
|
59 |
227 |
2.7e-42 |
PFAM |
|
low complexity region
|
424 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
514 |
525 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200450
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200441
|
| SMART Domains |
Protein: ENSMUSP00000143231
Gene: ENSMUSG00000027751
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
171 |
N/A |
INTRINSIC |
|
coiled coil region
|
213 |
242 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 88.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: The incompletely penetrant homozygous phenotype of a splice-site mutation may include retinal epithelium expansion over the dorsal half of the eye, exencephaly, spina bifida, gastrulation defects and/or aberrant somite and mesoderm development. A few mutants survive postnatally and appear normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
G |
T |
11: 80,254,767 (GRCm39) |
Y351* |
probably null |
Het |
| Aadac |
G |
T |
3: 59,943,368 (GRCm39) |
R91L |
possibly damaging |
Het |
| Adgrg1 |
T |
A |
8: 95,738,370 (GRCm39) |
F621Y |
probably damaging |
Het |
| Ankmy1 |
G |
T |
1: 92,812,775 (GRCm39) |
D511E |
probably benign |
Het |
| Anks4b |
A |
T |
7: 119,782,097 (GRCm39) |
D376V |
probably damaging |
Het |
| Aox1 |
G |
T |
1: 58,100,400 (GRCm39) |
C399F |
probably benign |
Het |
| Arfgef1 |
C |
T |
1: 10,269,067 (GRCm39) |
|
probably null |
Het |
| Arhgef4 |
G |
A |
1: 34,849,614 (GRCm39) |
V546M |
probably damaging |
Het |
| Cab39 |
T |
A |
1: 85,765,020 (GRCm39) |
V98E |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,651,856 (GRCm39) |
N108D |
probably damaging |
Het |
| Car15 |
C |
A |
16: 17,654,617 (GRCm39) |
E134* |
probably null |
Het |
| Ccdc80 |
T |
G |
16: 44,915,732 (GRCm39) |
Y163D |
probably damaging |
Het |
| Cdcp3 |
A |
G |
7: 130,841,268 (GRCm39) |
M537V |
probably benign |
Het |
| Col22a1 |
C |
T |
15: 71,740,853 (GRCm39) |
G513D |
unknown |
Het |
| Col8a1 |
T |
C |
16: 57,452,805 (GRCm39) |
D66G |
probably damaging |
Het |
| Crot |
C |
A |
5: 9,018,734 (GRCm39) |
S544I |
probably damaging |
Het |
| Cubn |
G |
T |
2: 13,435,770 (GRCm39) |
P1062Q |
probably damaging |
Het |
| Dcc |
A |
T |
18: 71,553,334 (GRCm39) |
V774E |
probably damaging |
Het |
| Dlgap5 |
T |
A |
14: 47,647,818 (GRCm39) |
M240L |
probably benign |
Het |
| Dlx4 |
A |
G |
11: 95,036,261 (GRCm39) |
V16A |
probably benign |
Het |
| Dnah17 |
G |
T |
11: 117,958,373 (GRCm39) |
H2703Q |
probably benign |
Het |
| Duox2 |
A |
G |
2: 122,122,291 (GRCm39) |
|
probably null |
Het |
| Fn1 |
C |
T |
1: 71,636,844 (GRCm39) |
V168I |
probably damaging |
Het |
| Fpr-rs4 |
A |
T |
17: 18,242,359 (GRCm39) |
D122V |
probably damaging |
Het |
| Gas2l2 |
A |
T |
11: 83,313,923 (GRCm39) |
I463N |
probably benign |
Het |
| Ggta1 |
G |
T |
2: 35,292,416 (GRCm39) |
P297Q |
probably damaging |
Het |
| Gpatch3 |
C |
A |
4: 133,305,457 (GRCm39) |
R231S |
probably damaging |
Het |
| Gpc1 |
T |
C |
1: 92,782,705 (GRCm39) |
Y151H |
probably damaging |
Het |
| Gpr141b |
A |
G |
13: 19,913,317 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2e2 |
T |
C |
8: 34,245,973 (GRCm39) |
W119R |
probably damaging |
Het |
| H2-M10.2 |
T |
C |
17: 36,595,253 (GRCm39) |
I304V |
probably benign |
Het |
| Helq |
T |
C |
5: 100,927,031 (GRCm39) |
K685R |
probably benign |
Het |
| Hps5 |
C |
T |
7: 46,418,712 (GRCm39) |
|
probably null |
Het |
| Iars1 |
T |
C |
13: 49,885,818 (GRCm39) |
C1186R |
probably damaging |
Het |
| Ift43 |
T |
C |
12: 86,208,795 (GRCm39) |
V158A |
possibly damaging |
Het |
| Ift70b |
A |
G |
2: 75,768,586 (GRCm39) |
Y56H |
probably damaging |
Het |
| Iqca1 |
A |
T |
1: 90,070,429 (GRCm39) |
I141N |
probably damaging |
Het |
| Kat6b |
A |
G |
14: 21,719,149 (GRCm39) |
N1276S |
probably benign |
Het |
| Kif19a |
A |
T |
11: 114,656,340 (GRCm39) |
M1L |
possibly damaging |
Het |
| Kif1b |
T |
G |
4: 149,286,969 (GRCm39) |
H1241P |
probably damaging |
Het |
| Kif26a |
T |
C |
12: 112,144,510 (GRCm39) |
V1588A |
possibly damaging |
Het |
| Klb |
T |
A |
5: 65,529,842 (GRCm39) |
|
probably null |
Het |
| Krtap26-1 |
A |
T |
16: 88,444,131 (GRCm39) |
Y163* |
probably null |
Het |
| Lefty1 |
G |
T |
1: 180,765,199 (GRCm39) |
E256* |
probably null |
Het |
| Lox |
T |
C |
18: 52,662,271 (GRCm39) |
N44S |
possibly damaging |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 76,949,663 (GRCm39) |
Y565C |
probably damaging |
Het |
| Megf6 |
C |
T |
4: 154,349,783 (GRCm39) |
A961V |
probably benign |
Het |
| Mindy4 |
A |
G |
6: 55,253,619 (GRCm39) |
K496R |
probably benign |
Het |
| Nalcn |
A |
T |
14: 123,744,971 (GRCm39) |
H352Q |
probably benign |
Het |
| Ncoa5 |
T |
C |
2: 164,851,310 (GRCm39) |
I188V |
possibly damaging |
Het |
| Notum |
G |
T |
11: 120,545,282 (GRCm39) |
H426N |
probably benign |
Het |
| Or52r1 |
T |
A |
7: 102,536,458 (GRCm39) |
I301F |
possibly damaging |
Het |
| Orm2 |
A |
T |
4: 63,282,233 (GRCm39) |
D137V |
probably damaging |
Het |
| Pabpc2 |
G |
A |
18: 39,908,448 (GRCm39) |
G571D |
probably damaging |
Het |
| Pabpc4 |
A |
G |
4: 123,191,735 (GRCm39) |
N599S |
probably damaging |
Het |
| Pak1ip1 |
T |
C |
13: 41,166,080 (GRCm39) |
V335A |
probably benign |
Het |
| Pcdhb11 |
A |
C |
18: 37,556,446 (GRCm39) |
D592A |
probably damaging |
Het |
| Pmch |
C |
A |
10: 87,927,120 (GRCm39) |
T41K |
possibly damaging |
Het |
| Polb |
G |
T |
8: 23,130,011 (GRCm39) |
S187* |
probably null |
Het |
| Pter |
G |
T |
2: 13,005,753 (GRCm39) |
G309* |
probably null |
Het |
| Ptprg |
T |
C |
14: 12,219,024 (GRCm38) |
V406A |
possibly damaging |
Het |
| Ranbp3l |
A |
T |
15: 9,063,184 (GRCm39) |
E467V |
possibly damaging |
Het |
| Rif1 |
T |
A |
2: 51,975,153 (GRCm39) |
M354K |
probably damaging |
Het |
| Ripk4 |
C |
T |
16: 97,549,312 (GRCm39) |
C248Y |
probably damaging |
Het |
| Slc6a15 |
T |
C |
10: 103,253,914 (GRCm39) |
W617R |
probably damaging |
Het |
| Smyd5 |
C |
T |
6: 85,417,155 (GRCm39) |
Q178* |
probably null |
Het |
| St18 |
T |
A |
1: 6,873,248 (GRCm39) |
F328I |
probably damaging |
Het |
| Tarbp1 |
T |
A |
8: 127,174,223 (GRCm39) |
H861L |
probably benign |
Het |
| Tars1 |
A |
G |
15: 11,390,411 (GRCm39) |
M356T |
probably benign |
Het |
| Tbc1d10a |
A |
G |
11: 4,162,819 (GRCm39) |
T221A |
probably damaging |
Het |
| Tead3 |
A |
G |
17: 28,553,672 (GRCm39) |
|
probably null |
Het |
| Tprg1 |
A |
G |
16: 25,240,985 (GRCm39) |
T254A |
probably damaging |
Het |
| Trank1 |
C |
A |
9: 111,220,545 (GRCm39) |
N2427K |
probably benign |
Het |
| Tufm |
T |
C |
7: 126,089,036 (GRCm39) |
S380P |
probably damaging |
Het |
| Tyrobp |
C |
T |
7: 30,114,042 (GRCm39) |
R68C |
probably damaging |
Het |
| Ubl4b |
T |
C |
3: 107,462,143 (GRCm39) |
E39G |
possibly damaging |
Het |
| Uggt2 |
A |
T |
14: 119,286,863 (GRCm39) |
F661I |
probably damaging |
Het |
| Upf3b |
A |
G |
X: 36,368,120 (GRCm39) |
I144T |
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,611,320 (GRCm39) |
D1165E |
probably benign |
Het |
| Vmn2r81 |
C |
T |
10: 79,129,281 (GRCm39) |
T724I |
possibly damaging |
Het |
| Vsig1 |
A |
G |
X: 139,837,062 (GRCm39) |
I247M |
possibly damaging |
Het |
| Zfp110 |
C |
A |
7: 12,583,187 (GRCm39) |
L612I |
probably benign |
Het |
| Zfp318 |
C |
A |
17: 46,724,222 (GRCm39) |
T2075K |
probably damaging |
Het |
| Zfp37 |
A |
G |
4: 62,110,122 (GRCm39) |
M1T |
probably null |
Het |
| Zfp605 |
T |
A |
5: 110,276,720 (GRCm39) |
C613S |
probably damaging |
Het |
| Zfp729a |
G |
A |
13: 67,769,792 (GRCm39) |
P146S |
possibly damaging |
Het |
| Zfp85 |
T |
C |
13: 67,896,791 (GRCm39) |
N427S |
probably benign |
Het |
|
| Other mutations in Supt20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00518:Supt20
|
APN |
3 |
54,622,590 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01781:Supt20
|
APN |
3 |
54,602,626 (GRCm39) |
start codon destroyed |
probably null |
0.47 |
|
IGL02510:Supt20
|
APN |
3 |
54,622,945 (GRCm39) |
intron |
probably benign |
|
|
IGL02656:Supt20
|
APN |
3 |
54,615,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02958:Supt20
|
APN |
3 |
54,621,144 (GRCm39) |
intron |
probably benign |
|
|
IGL03036:Supt20
|
APN |
3 |
54,616,723 (GRCm39) |
nonsense |
probably null |
|
|
IGL03128:Supt20
|
APN |
3 |
54,615,708 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03164:Supt20
|
APN |
3 |
54,620,609 (GRCm39) |
missense |
probably benign |
0.01 |
|
FR4304:Supt20
|
UTSW |
3 |
54,635,085 (GRCm39) |
nonsense |
probably null |
|
|
FR4304:Supt20
|
UTSW |
3 |
54,635,068 (GRCm39) |
small insertion |
probably benign |
|
|
FR4304:Supt20
|
UTSW |
3 |
54,635,083 (GRCm39) |
small insertion |
probably benign |
|
|
FR4449:Supt20
|
UTSW |
3 |
54,635,070 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Supt20
|
UTSW |
3 |
54,635,094 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Supt20
|
UTSW |
3 |
54,635,078 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Supt20
|
UTSW |
3 |
54,635,085 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Supt20
|
UTSW |
3 |
54,635,092 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Supt20
|
UTSW |
3 |
54,635,072 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Supt20
|
UTSW |
3 |
54,635,076 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Supt20
|
UTSW |
3 |
54,635,082 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Supt20
|
UTSW |
3 |
54,635,078 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Supt20
|
UTSW |
3 |
54,635,079 (GRCm39) |
small insertion |
probably benign |
|
|
R0675:Supt20
|
UTSW |
3 |
54,614,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0744:Supt20
|
UTSW |
3 |
54,622,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0968:Supt20
|
UTSW |
3 |
54,615,821 (GRCm39) |
intron |
probably benign |
|
|
R1075:Supt20
|
UTSW |
3 |
54,614,362 (GRCm39) |
nonsense |
probably null |
|
|
R1689:Supt20
|
UTSW |
3 |
54,619,583 (GRCm39) |
nonsense |
probably null |
|
|
R1772:Supt20
|
UTSW |
3 |
54,617,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1779:Supt20
|
UTSW |
3 |
54,622,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1829:Supt20
|
UTSW |
3 |
54,635,079 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3236:Supt20
|
UTSW |
3 |
54,616,501 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3237:Supt20
|
UTSW |
3 |
54,616,501 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4989:Supt20
|
UTSW |
3 |
54,602,555 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5180:Supt20
|
UTSW |
3 |
54,616,506 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5188:Supt20
|
UTSW |
3 |
54,617,849 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5423:Supt20
|
UTSW |
3 |
54,616,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5627:Supt20
|
UTSW |
3 |
54,620,611 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5888:Supt20
|
UTSW |
3 |
54,619,628 (GRCm39) |
missense |
probably benign |
|
|
R5995:Supt20
|
UTSW |
3 |
54,616,474 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6316:Supt20
|
UTSW |
3 |
54,635,069 (GRCm39) |
small insertion |
probably benign |
|
|
R6623:Supt20
|
UTSW |
3 |
54,625,715 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6713:Supt20
|
UTSW |
3 |
54,606,022 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6874:Supt20
|
UTSW |
3 |
54,635,175 (GRCm39) |
splice site |
probably null |
|
|
R6988:Supt20
|
UTSW |
3 |
54,606,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7149:Supt20
|
UTSW |
3 |
54,635,832 (GRCm39) |
missense |
unknown |
|
|
R7592:Supt20
|
UTSW |
3 |
54,614,543 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7940:Supt20
|
UTSW |
3 |
54,620,620 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8480:Supt20
|
UTSW |
3 |
54,614,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8550:Supt20
|
UTSW |
3 |
54,623,063 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8935:Supt20
|
UTSW |
3 |
54,634,988 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9412:Supt20
|
UTSW |
3 |
54,635,069 (GRCm39) |
small deletion |
probably benign |
|
|
R9414:Supt20
|
UTSW |
3 |
54,610,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9694:Supt20
|
UTSW |
3 |
54,623,015 (GRCm39) |
missense |
probably benign |
0.02 |
|
RF001:Supt20
|
UTSW |
3 |
54,635,083 (GRCm39) |
small insertion |
probably benign |
|
|
RF009:Supt20
|
UTSW |
3 |
54,635,083 (GRCm39) |
small insertion |
probably benign |
|
|
RF010:Supt20
|
UTSW |
3 |
54,635,083 (GRCm39) |
small insertion |
probably benign |
|
|
RF014:Supt20
|
UTSW |
3 |
54,635,086 (GRCm39) |
small insertion |
probably benign |
|
|
RF026:Supt20
|
UTSW |
3 |
54,635,091 (GRCm39) |
nonsense |
probably null |
|
|
RF026:Supt20
|
UTSW |
3 |
54,635,068 (GRCm39) |
small insertion |
probably benign |
|
|
RF032:Supt20
|
UTSW |
3 |
54,635,087 (GRCm39) |
small insertion |
probably benign |
|
|
RF038:Supt20
|
UTSW |
3 |
54,635,068 (GRCm39) |
small insertion |
probably benign |
|
|
RF045:Supt20
|
UTSW |
3 |
54,635,087 (GRCm39) |
small insertion |
probably benign |
|
|
RF052:Supt20
|
UTSW |
3 |
54,635,086 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGCAACACGTTCTTTCAGCACTACA -3'
(R):5'- ACTAACCAGTGCCACAAAAGGGATTAAA -3'
Sequencing Primer
(F):5'- cctcccccccccagttc -3'
(R):5'- cacacacacacacacacac -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation