Incidental Mutation 'R1263:Sanbr'
ID |
151669 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sanbr
|
Ensembl Gene |
ENSMUSG00000042208 |
Gene Name |
SANT and BTB domain regulator of CSR |
Synonyms |
0610010F05Rik |
MMRRC Submission |
039330-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.156)
|
Stock # |
R1263 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
23514961-23583639 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 23570278 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 207
(Y207*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136118
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043356]
[ENSMUST00000093267]
[ENSMUST00000109532]
[ENSMUST00000141353]
[ENSMUST00000155903]
[ENSMUST00000180260]
|
AlphaFold |
Q68FF0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000043356
AA Change: Y207*
|
SMART Domains |
Protein: ENSMUSP00000044265 Gene: ENSMUSG00000042208 AA Change: Y207*
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
AA Change: Y61*
|
SMART Domains |
Protein: ENSMUSP00000090955 Gene: ENSMUSG00000042208 AA Change: Y61*
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
AA Change: Y207*
|
SMART Domains |
Protein: ENSMUSP00000105158 Gene: ENSMUSG00000042208 AA Change: Y207*
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: ENSMUST00000141353
AA Change: Y61*
|
SMART Domains |
Protein: ENSMUSP00000121553 Gene: ENSMUSG00000042208 AA Change: Y61*
Domain | Start | End | E-Value | Type |
Pfam:DUF3342
|
1 |
189 |
7.1e-75 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000155903
AA Change: Y207*
|
SMART Domains |
Protein: ENSMUSP00000137799 Gene: ENSMUSG00000042208 AA Change: Y207*
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
AA Change: Y207*
|
SMART Domains |
Protein: ENSMUSP00000136118 Gene: ENSMUSG00000042208 AA Change: Y207*
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: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
C |
11: 109,832,433 (GRCm39) |
H1231Q |
possibly damaging |
Het |
Acbd4 |
T |
A |
11: 102,994,677 (GRCm39) |
|
probably null |
Het |
Atp13a4 |
T |
A |
16: 29,290,771 (GRCm39) |
Y226F |
possibly damaging |
Het |
Brd3 |
A |
C |
2: 27,352,534 (GRCm39) |
F132C |
probably damaging |
Het |
Btaf1 |
A |
T |
19: 36,933,924 (GRCm39) |
N184I |
probably benign |
Het |
Ccdc180 |
A |
G |
4: 45,903,887 (GRCm39) |
E351G |
possibly damaging |
Het |
Ccdc185 |
A |
T |
1: 182,574,918 (GRCm39) |
Y590* |
probably null |
Het |
Chi3l1 |
G |
A |
1: 134,116,980 (GRCm39) |
E315K |
probably benign |
Het |
Col6a6 |
T |
A |
9: 105,586,688 (GRCm39) |
M1778L |
probably benign |
Het |
Cyp3a59 |
A |
C |
5: 146,041,521 (GRCm39) |
Y355S |
probably damaging |
Het |
Cyp4a31 |
A |
G |
4: 115,431,908 (GRCm39) |
T396A |
probably benign |
Het |
Dnaaf6rt |
A |
T |
1: 31,262,296 (GRCm39) |
I93F |
probably damaging |
Het |
Dnah6 |
A |
T |
6: 73,121,948 (GRCm39) |
I1373N |
probably damaging |
Het |
Dop1b |
C |
A |
16: 93,574,274 (GRCm39) |
H1598N |
probably benign |
Het |
Erich4 |
T |
A |
7: 25,314,559 (GRCm39) |
K118M |
probably damaging |
Het |
Gkap1 |
A |
T |
13: 58,403,587 (GRCm39) |
V179E |
probably benign |
Het |
Gpr107 |
T |
G |
2: 31,068,267 (GRCm39) |
I243S |
possibly damaging |
Het |
Hs3st6 |
A |
G |
17: 24,977,504 (GRCm39) |
N328S |
probably damaging |
Het |
Kcnq5 |
A |
T |
1: 21,549,602 (GRCm39) |
I375N |
probably damaging |
Het |
Klhdc3 |
A |
T |
17: 46,987,892 (GRCm39) |
H266Q |
probably benign |
Het |
Krt71 |
C |
T |
15: 101,643,901 (GRCm39) |
G446R |
probably damaging |
Het |
L3mbtl2 |
A |
G |
15: 81,567,169 (GRCm39) |
T423A |
probably benign |
Het |
Mical3 |
T |
C |
6: 120,929,430 (GRCm39) |
E1812G |
probably damaging |
Het |
Nlrp1a |
A |
G |
11: 70,987,948 (GRCm39) |
I1174T |
probably benign |
Het |
Npas2 |
C |
A |
1: 39,373,849 (GRCm39) |
Q450K |
possibly damaging |
Het |
Nrp1 |
T |
A |
8: 129,194,870 (GRCm39) |
I442N |
probably damaging |
Het |
Or1j10 |
T |
A |
2: 36,267,006 (GRCm39) |
S73T |
probably damaging |
Het |
Or2y1 |
A |
T |
11: 49,385,848 (GRCm39) |
M163L |
probably benign |
Het |
Palld |
TGCGTAGCG |
TGCG |
8: 61,966,491 (GRCm39) |
|
probably null |
Het |
Pold3 |
T |
A |
7: 99,768,890 (GRCm39) |
Q36L |
possibly damaging |
Het |
Polg |
T |
C |
7: 79,109,534 (GRCm39) |
T428A |
probably benign |
Het |
Rfx7 |
T |
A |
9: 72,484,329 (GRCm39) |
V57E |
possibly damaging |
Het |
Rnf122 |
T |
G |
8: 31,602,177 (GRCm39) |
M1R |
probably null |
Het |
Scn10a |
T |
A |
9: 119,446,799 (GRCm39) |
T1410S |
probably damaging |
Het |
Serpinb13 |
T |
A |
1: 106,928,466 (GRCm39) |
V362E |
probably damaging |
Het |
Setdb1 |
T |
C |
3: 95,234,922 (GRCm39) |
N927S |
probably damaging |
Het |
Sft2d1 |
A |
G |
17: 8,539,470 (GRCm39) |
K91R |
probably benign |
Het |
Shprh |
A |
G |
10: 11,035,274 (GRCm39) |
H327R |
probably damaging |
Het |
Slc9b2 |
C |
A |
3: 135,042,156 (GRCm39) |
H478Q |
probably benign |
Het |
Styxl1 |
G |
T |
5: 135,782,737 (GRCm39) |
S117R |
probably damaging |
Het |
Synj2 |
T |
C |
17: 6,069,634 (GRCm39) |
F150L |
probably damaging |
Het |
Tep1 |
C |
A |
14: 51,082,970 (GRCm39) |
V1013L |
possibly damaging |
Het |
Tgfbi |
T |
A |
13: 56,778,468 (GRCm39) |
L413Q |
probably damaging |
Het |
Tmc5 |
G |
A |
7: 118,266,093 (GRCm39) |
R789Q |
probably damaging |
Het |
Tonsl |
T |
A |
15: 76,506,762 (GRCm39) |
I115F |
possibly damaging |
Het |
Trim38 |
A |
G |
13: 23,975,117 (GRCm39) |
Y352C |
probably damaging |
Het |
Txnl4a |
T |
A |
18: 80,250,536 (GRCm39) |
V44D |
probably benign |
Het |
Vars2 |
A |
G |
17: 35,972,501 (GRCm39) |
V39A |
probably damaging |
Het |
Vmn2r105 |
A |
G |
17: 20,428,584 (GRCm39) |
C831R |
probably damaging |
Het |
Vmn2r26 |
T |
A |
6: 124,027,667 (GRCm39) |
I469N |
probably benign |
Het |
Vmn2r53 |
T |
C |
7: 12,315,533 (GRCm39) |
Y762C |
probably benign |
Het |
Vps13d |
T |
A |
4: 144,896,918 (GRCm39) |
Q334L |
probably benign |
Het |
Zfp277 |
A |
T |
12: 40,414,164 (GRCm39) |
I227N |
probably damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCAAACAAACCTTGTGAGAATTTTGTTAACC -3'
(R):5'- CCTGGACCCAAACTCTACTGATGCTAAA -3'
Sequencing Primer
(F):5'- TGAGAATTTTGTTAACCTTGTAGGC -3'
(R):5'- TCTTATGAAGGCCAAACATGGTG -3'
|
Posted On |
2014-01-29 |