Incidental Mutation 'IGL01522:Sanbr'
ID |
89459 |
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 # |
IGL01522
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
23514961-23583639 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 23532865 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136118
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043356]
[ENSMUST00000043356]
[ENSMUST00000043356]
[ENSMUST00000093267]
[ENSMUST00000093267]
[ENSMUST00000093267]
[ENSMUST00000109532]
[ENSMUST00000109532]
[ENSMUST00000109532]
[ENSMUST00000123909]
[ENSMUST00000123909]
[ENSMUST00000123909]
[ENSMUST00000155903]
[ENSMUST00000180260]
[ENSMUST00000180260]
[ENSMUST00000180260]
|
AlphaFold |
Q68FF0 |
Predicted Effect |
probably null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
Transcript: ENSMUST00000123909
|
SMART Domains |
Protein: ENSMUSP00000117103 Gene: ENSMUSG00000042208
Domain | Start | End | E-Value | Type |
low complexity region
|
71 |
82 |
N/A |
INTRINSIC |
low complexity region
|
85 |
102 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000123909
|
SMART Domains |
Protein: ENSMUSP00000117103 Gene: ENSMUSG00000042208
Domain | Start | End | E-Value | Type |
low complexity region
|
71 |
82 |
N/A |
INTRINSIC |
low complexity region
|
85 |
102 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000123909
|
SMART Domains |
Protein: ENSMUSP00000117103 Gene: ENSMUSG00000042208
Domain | Start | End | E-Value | Type |
low complexity region
|
71 |
82 |
N/A |
INTRINSIC |
low complexity region
|
85 |
102 |
N/A |
INTRINSIC |
|
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 null
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 |
|
Predicted Effect |
probably null
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 |
|
Predicted Effect |
probably null
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
T |
C |
15: 11,065,245 (GRCm39) |
|
probably null |
Het |
Adamts3 |
T |
C |
5: 89,850,802 (GRCm39) |
N579S |
probably benign |
Het |
Akr1c19 |
A |
G |
13: 4,289,098 (GRCm39) |
|
probably benign |
Het |
Ankrd39 |
T |
A |
1: 36,581,142 (GRCm39) |
H69L |
probably damaging |
Het |
Apcdd1 |
T |
A |
18: 63,085,186 (GRCm39) |
M461K |
possibly damaging |
Het |
Bpifa3 |
G |
A |
2: 153,979,502 (GRCm39) |
C209Y |
probably damaging |
Het |
Cep131 |
T |
C |
11: 119,957,989 (GRCm39) |
E779G |
probably benign |
Het |
Cep85 |
T |
C |
4: 133,879,566 (GRCm39) |
Q394R |
probably damaging |
Het |
Cep85 |
G |
T |
4: 133,879,567 (GRCm39) |
Q394K |
probably damaging |
Het |
Clcn6 |
T |
C |
4: 148,101,992 (GRCm39) |
Y364C |
probably benign |
Het |
Fetub |
G |
A |
16: 22,748,391 (GRCm39) |
M1I |
probably null |
Het |
Greb1 |
T |
C |
12: 16,751,202 (GRCm39) |
I1003V |
probably damaging |
Het |
Hsf3 |
A |
G |
X: 95,364,200 (GRCm39) |
|
probably benign |
Het |
Jcad |
A |
G |
18: 4,673,312 (GRCm39) |
N358S |
probably damaging |
Het |
Kndc1 |
T |
C |
7: 139,493,888 (GRCm39) |
|
probably benign |
Het |
Lama1 |
A |
T |
17: 68,059,769 (GRCm39) |
|
probably benign |
Het |
Mark2 |
A |
G |
19: 7,258,603 (GRCm39) |
V50A |
probably benign |
Het |
Mmp7 |
T |
C |
9: 7,692,229 (GRCm39) |
W35R |
probably damaging |
Het |
Ndc80 |
A |
G |
17: 71,806,320 (GRCm39) |
V578A |
probably benign |
Het |
Nfyc |
T |
C |
4: 120,638,721 (GRCm39) |
E42G |
probably damaging |
Het |
Or1j15 |
A |
G |
2: 36,459,233 (GRCm39) |
T208A |
probably benign |
Het |
Or52b4 |
A |
T |
7: 102,184,391 (GRCm39) |
I146F |
probably damaging |
Het |
Or5d37 |
T |
C |
2: 87,923,360 (GRCm39) |
K307E |
possibly damaging |
Het |
Or8g21 |
A |
T |
9: 38,906,396 (GRCm39) |
C112S |
probably benign |
Het |
Or9i16 |
A |
T |
19: 13,864,722 (GRCm39) |
L284* |
probably null |
Het |
Pcdha11 |
T |
C |
18: 37,318,061 (GRCm39) |
F925L |
probably damaging |
Het |
Pdcd1 |
T |
G |
1: 93,968,571 (GRCm39) |
R154S |
probably benign |
Het |
Pepd |
T |
A |
7: 34,623,865 (GRCm39) |
D87E |
probably benign |
Het |
Pfn4 |
A |
G |
12: 4,820,240 (GRCm39) |
T30A |
probably benign |
Het |
Pgpep1l |
A |
G |
7: 67,887,456 (GRCm39) |
M48T |
possibly damaging |
Het |
Pla2g15 |
A |
G |
8: 106,889,748 (GRCm39) |
N340S |
probably benign |
Het |
Plcb4 |
A |
G |
2: 135,844,547 (GRCm39) |
D155G |
probably damaging |
Het |
Plg |
G |
A |
17: 12,622,956 (GRCm39) |
G499S |
probably damaging |
Het |
Plin3 |
C |
T |
17: 56,587,799 (GRCm39) |
W305* |
probably null |
Het |
Polq |
C |
A |
16: 36,848,265 (GRCm39) |
L291I |
probably damaging |
Het |
Sdf2l1 |
T |
A |
16: 16,950,014 (GRCm39) |
H54L |
probably damaging |
Het |
Slc38a2 |
C |
T |
15: 96,590,936 (GRCm39) |
D276N |
possibly damaging |
Het |
Syk |
A |
G |
13: 52,797,097 (GRCm39) |
T576A |
probably benign |
Het |
Tas2r119 |
G |
A |
15: 32,178,339 (GRCm39) |
V302I |
probably benign |
Het |
Uso1 |
T |
C |
5: 92,329,278 (GRCm39) |
F389L |
probably damaging |
Het |
Wwc2 |
T |
A |
8: 48,321,668 (GRCm39) |
Y482F |
unknown |
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 |
IGL01444:Sanbr
|
APN |
11 |
23,570,225 (GRCm39) |
splice site |
probably benign |
|
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 |
2013-12-03 |