Incidental Mutation 'IGL01444:Sanbr'
ID |
84375 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sanbr
|
Ensembl Gene |
ENSMUSG00000042208 |
Gene Name |
SANT and BTB domain regulator of CSR |
Synonyms |
0610010F05Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.156)
|
Stock # |
IGL01444
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
23514961-23583639 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to G
at 23570225 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136118
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043356]
[ENSMUST00000093267]
[ENSMUST00000109532]
[ENSMUST00000141353]
[ENSMUST00000155903]
[ENSMUST00000180260]
|
AlphaFold |
Q68FF0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043356
|
SMART Domains |
Protein: ENSMUSP00000044265 Gene: ENSMUSG00000042208
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
16 |
N/A |
INTRINSIC |
Pfam:DUF3342
|
147 |
449 |
5.1e-107 |
PFAM |
low complexity region
|
565 |
576 |
N/A |
INTRINSIC |
low complexity region
|
579 |
596 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000093267
|
SMART Domains |
Protein: ENSMUSP00000090955 Gene: ENSMUSG00000042208
Domain | Start | End | E-Value | Type |
Pfam:DUF3342
|
1 |
303 |
7.7e-107 |
PFAM |
low complexity region
|
419 |
430 |
N/A |
INTRINSIC |
low complexity region
|
433 |
450 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109532
|
SMART Domains |
Protein: ENSMUSP00000105158 Gene: ENSMUSG00000042208
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
16 |
N/A |
INTRINSIC |
Pfam:DUF3342
|
147 |
449 |
5.1e-107 |
PFAM |
low complexity region
|
565 |
576 |
N/A |
INTRINSIC |
low complexity region
|
579 |
596 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141353
|
SMART Domains |
Protein: ENSMUSP00000121553 Gene: ENSMUSG00000042208
Domain | Start | End | E-Value | Type |
Pfam:DUF3342
|
1 |
189 |
7.1e-75 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155903
|
SMART Domains |
Protein: ENSMUSP00000137799 Gene: ENSMUSG00000042208
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
16 |
N/A |
INTRINSIC |
Pfam:DUF3342
|
147 |
449 |
1e-106 |
PFAM |
low complexity region
|
565 |
576 |
N/A |
INTRINSIC |
low complexity region
|
579 |
596 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180260
|
SMART Domains |
Protein: ENSMUSP00000136118 Gene: ENSMUSG00000042208
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
16 |
N/A |
INTRINSIC |
Pfam:DUF3342
|
147 |
449 |
4.5e-107 |
PFAM |
low complexity region
|
565 |
576 |
N/A |
INTRINSIC |
low complexity region
|
579 |
596 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adad1 |
A |
T |
3: 37,146,183 (GRCm39) |
N517I |
probably damaging |
Het |
Adam25 |
G |
A |
8: 41,207,958 (GRCm39) |
R408H |
probably benign |
Het |
Adam34l |
A |
T |
8: 44,079,470 (GRCm39) |
D251E |
probably benign |
Het |
Ang |
C |
A |
14: 51,339,124 (GRCm39) |
Y88* |
probably null |
Het |
Ankrd42 |
T |
C |
7: 92,259,793 (GRCm39) |
T327A |
probably damaging |
Het |
Birc6 |
A |
G |
17: 74,938,682 (GRCm39) |
D2696G |
probably damaging |
Het |
Chd3 |
G |
A |
11: 69,239,568 (GRCm39) |
T1717M |
probably benign |
Het |
Csmd1 |
T |
A |
8: 16,250,069 (GRCm39) |
M970L |
probably benign |
Het |
Dhx32 |
T |
C |
7: 133,350,706 (GRCm39) |
I121M |
possibly damaging |
Het |
Dnah11 |
G |
A |
12: 117,983,967 (GRCm39) |
S2506F |
possibly damaging |
Het |
Dscam |
T |
A |
16: 96,474,909 (GRCm39) |
I1218F |
possibly damaging |
Het |
Duox1 |
T |
C |
2: 122,170,571 (GRCm39) |
L1197P |
probably damaging |
Het |
Eps8l2 |
T |
C |
7: 140,941,288 (GRCm39) |
|
probably benign |
Het |
Exoc3 |
T |
C |
13: 74,355,054 (GRCm39) |
K49R |
probably damaging |
Het |
Exoc8 |
T |
A |
8: 125,622,580 (GRCm39) |
T596S |
possibly damaging |
Het |
F13a1 |
C |
T |
13: 37,102,551 (GRCm39) |
G391R |
probably null |
Het |
Fat3 |
A |
T |
9: 15,910,144 (GRCm39) |
S1953T |
probably damaging |
Het |
Gls2 |
C |
A |
10: 128,037,216 (GRCm39) |
N252K |
probably damaging |
Het |
Haus2 |
G |
A |
2: 120,446,423 (GRCm39) |
R115K |
probably benign |
Het |
Ift122 |
A |
G |
6: 115,861,340 (GRCm39) |
K262E |
probably benign |
Het |
Islr2 |
C |
T |
9: 58,105,661 (GRCm39) |
C533Y |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,274,060 (GRCm39) |
F3997I |
possibly damaging |
Het |
Nt5c1a |
C |
T |
4: 123,109,962 (GRCm39) |
R354W |
probably damaging |
Het |
Or6c206 |
T |
A |
10: 129,097,204 (GRCm39) |
C125S |
probably damaging |
Het |
Pcolce |
A |
T |
5: 137,605,738 (GRCm39) |
S200R |
probably damaging |
Het |
Plec |
A |
G |
15: 76,063,497 (GRCm39) |
V2213A |
possibly damaging |
Het |
Prmt3 |
T |
A |
7: 49,430,120 (GRCm39) |
D74E |
probably benign |
Het |
Ptk7 |
A |
G |
17: 46,876,313 (GRCm39) |
F1046S |
probably damaging |
Het |
Ranbp2 |
T |
C |
10: 58,311,122 (GRCm39) |
Y887H |
possibly damaging |
Het |
Sez6l2 |
G |
A |
7: 126,561,055 (GRCm39) |
E447K |
possibly damaging |
Het |
Shld2 |
C |
A |
14: 33,959,514 (GRCm39) |
V823F |
probably damaging |
Het |
Snrnp70 |
C |
T |
7: 45,036,660 (GRCm39) |
|
probably null |
Het |
Timm10 |
T |
A |
2: 84,660,208 (GRCm39) |
V49E |
probably damaging |
Het |
Tox2 |
T |
C |
2: 163,067,386 (GRCm39) |
|
probably benign |
Het |
Usp20 |
T |
A |
2: 30,888,801 (GRCm39) |
M1K |
probably null |
Het |
Usp32 |
A |
C |
11: 84,949,990 (GRCm39) |
L223V |
probably damaging |
Het |
Zeb1 |
G |
T |
18: 5,767,906 (GRCm39) |
A806S |
probably damaging |
Het |
Zeb1 |
T |
C |
18: 5,767,138 (GRCm39) |
S550P |
probably benign |
Het |
|
Other mutations in Sanbr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01133:Sanbr
|
APN |
11 |
23,545,434 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01522:Sanbr
|
APN |
11 |
23,532,865 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01819:Sanbr
|
APN |
11 |
23,534,561 (GRCm39) |
missense |
probably benign |
0.29 |
IGL02470:Sanbr
|
APN |
11 |
23,565,222 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03046:Sanbr
|
UTSW |
11 |
23,565,150 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0139:Sanbr
|
UTSW |
11 |
23,570,214 (GRCm39) |
splice site |
probably benign |
|
R0334:Sanbr
|
UTSW |
11 |
23,567,129 (GRCm39) |
splice site |
probably benign |
|
R0646:Sanbr
|
UTSW |
11 |
23,525,491 (GRCm39) |
missense |
probably damaging |
0.99 |
R1078:Sanbr
|
UTSW |
11 |
23,561,762 (GRCm39) |
missense |
probably benign |
0.45 |
R1263:Sanbr
|
UTSW |
11 |
23,570,278 (GRCm39) |
nonsense |
probably null |
|
R1471:Sanbr
|
UTSW |
11 |
23,565,222 (GRCm39) |
missense |
probably damaging |
0.99 |
R1568:Sanbr
|
UTSW |
11 |
23,539,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R2163:Sanbr
|
UTSW |
11 |
23,526,826 (GRCm39) |
splice site |
probably benign |
|
R2318:Sanbr
|
UTSW |
11 |
23,538,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R2426:Sanbr
|
UTSW |
11 |
23,526,801 (GRCm39) |
missense |
probably damaging |
1.00 |
R4373:Sanbr
|
UTSW |
11 |
23,565,265 (GRCm39) |
splice site |
probably null |
|
R4688:Sanbr
|
UTSW |
11 |
23,543,449 (GRCm39) |
missense |
probably benign |
|
R4816:Sanbr
|
UTSW |
11 |
23,565,243 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5046:Sanbr
|
UTSW |
11 |
23,570,354 (GRCm39) |
missense |
probably benign |
0.23 |
R5156:Sanbr
|
UTSW |
11 |
23,543,424 (GRCm39) |
critical splice donor site |
probably null |
|
R5249:Sanbr
|
UTSW |
11 |
23,525,483 (GRCm39) |
makesense |
probably null |
|
R5615:Sanbr
|
UTSW |
11 |
23,556,759 (GRCm39) |
missense |
probably damaging |
0.96 |
R6758:Sanbr
|
UTSW |
11 |
23,538,475 (GRCm39) |
splice site |
probably null |
|
R6860:Sanbr
|
UTSW |
11 |
23,575,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R6910:Sanbr
|
UTSW |
11 |
23,570,447 (GRCm39) |
missense |
probably damaging |
0.99 |
R7255:Sanbr
|
UTSW |
11 |
23,570,465 (GRCm39) |
missense |
probably benign |
0.41 |
R7286:Sanbr
|
UTSW |
11 |
23,572,479 (GRCm39) |
missense |
probably benign |
0.07 |
R7603:Sanbr
|
UTSW |
11 |
23,516,191 (GRCm39) |
missense |
probably benign |
|
R7618:Sanbr
|
UTSW |
11 |
23,534,550 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7717:Sanbr
|
UTSW |
11 |
23,556,757 (GRCm39) |
missense |
probably benign |
0.05 |
R8110:Sanbr
|
UTSW |
11 |
23,526,764 (GRCm39) |
missense |
probably benign |
|
R8677:Sanbr
|
UTSW |
11 |
23,545,471 (GRCm39) |
missense |
probably benign |
0.24 |
R9165:Sanbr
|
UTSW |
11 |
23,565,244 (GRCm39) |
missense |
probably benign |
0.00 |
R9175:Sanbr
|
UTSW |
11 |
23,534,518 (GRCm39) |
critical splice donor site |
probably null |
|
R9526:Sanbr
|
UTSW |
11 |
23,559,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R9583:Sanbr
|
UTSW |
11 |
23,531,642 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9622:Sanbr
|
UTSW |
11 |
23,534,590 (GRCm39) |
missense |
probably damaging |
0.99 |
X0026:Sanbr
|
UTSW |
11 |
23,526,767 (GRCm39) |
missense |
probably benign |
0.00 |
X0067:Sanbr
|
UTSW |
11 |
23,543,420 (GRCm39) |
splice site |
probably null |
|
Z1177:Sanbr
|
UTSW |
11 |
23,574,960 (GRCm39) |
missense |
probably benign |
0.38 |
|
Posted On |
2013-11-11 |