Incidental Mutation 'R6758:Sanbr'
ID |
531109 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sanbr
|
Ensembl Gene |
ENSMUSG00000042208 |
Gene Name |
SANT and BTB domain regulator of CSR |
Synonyms |
0610010F05Rik |
MMRRC Submission |
044874-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.173)
|
Stock # |
R6758 (G1)
|
Quality Score |
97.0078 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
23514961-23583639 bp(-) (GRCm39) |
Type of Mutation |
splice site (160 bp from exon) |
DNA Base Change (assembly) |
T to C
at 23538475 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136118
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043356]
[ENSMUST00000093267]
[ENSMUST00000109532]
[ENSMUST00000123909]
[ENSMUST00000155903]
[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: 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: 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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd17 |
A |
T |
5: 90,411,172 (GRCm39) |
D1374E |
probably damaging |
Het |
Cd96 |
C |
A |
16: 45,938,367 (GRCm39) |
V33L |
possibly damaging |
Het |
Drd1 |
T |
C |
13: 54,207,308 (GRCm39) |
E295G |
probably benign |
Het |
Fzd8 |
T |
A |
18: 9,213,238 (GRCm39) |
C107S |
possibly damaging |
Het |
Gm10801 |
C |
CGTG |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
Gm11595 |
C |
A |
11: 99,663,366 (GRCm39) |
V105L |
unknown |
Het |
Gm11595 |
A |
T |
11: 99,663,367 (GRCm39) |
C104* |
probably null |
Het |
Igsf3 |
T |
C |
3: 101,332,814 (GRCm39) |
Y31H |
probably damaging |
Het |
Ikzf2 |
A |
T |
1: 69,578,059 (GRCm39) |
H483Q |
probably damaging |
Het |
Itgbl1 |
A |
G |
14: 124,094,901 (GRCm39) |
K309E |
probably benign |
Het |
Myt1l |
T |
G |
12: 29,892,599 (GRCm39) |
Y79D |
possibly damaging |
Het |
Nid2 |
T |
A |
14: 19,852,551 (GRCm39) |
S1086R |
probably damaging |
Het |
Or1o1 |
A |
G |
17: 37,716,586 (GRCm39) |
D49G |
probably damaging |
Het |
Or5h24 |
T |
C |
16: 58,919,328 (GRCm39) |
E9G |
probably damaging |
Het |
Or6c65 |
T |
C |
10: 129,603,920 (GRCm39) |
I185T |
probably damaging |
Het |
Rorc |
A |
G |
3: 94,294,825 (GRCm39) |
N51S |
possibly damaging |
Het |
Simc1 |
C |
T |
13: 54,673,361 (GRCm39) |
P570S |
possibly damaging |
Het |
Smn1 |
T |
A |
13: 100,268,946 (GRCm39) |
M264K |
possibly damaging |
Het |
Tiam2 |
A |
G |
17: 3,568,678 (GRCm39) |
D1608G |
probably benign |
Het |
Tll1 |
C |
A |
8: 64,494,439 (GRCm39) |
|
probably null |
Het |
Trim15 |
A |
G |
17: 37,173,233 (GRCm39) |
L284P |
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 |
IGL01444:Sanbr
|
APN |
11 |
23,570,225 (GRCm39) |
splice site |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTACACACAGAGCACCAGG -3'
(R):5'- TTCTCAGAAGAGGAAGAGTATACCACG -3'
Sequencing Primer
(F):5'- CACACAGAGCACCAGGGTTTATTTTC -3'
(R):5'- TCTGAGGTCACTGAAGATGAAGTC -3'
|
Posted On |
2018-08-01 |