Incidental Mutation 'R5046:Sanbr'
ID |
394384 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sanbr
|
Ensembl Gene |
ENSMUSG00000042208 |
Gene Name |
SANT and BTB domain regulator of CSR |
Synonyms |
0610010F05Rik |
MMRRC Submission |
042636-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.173)
|
Stock # |
R5046 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
23514961-23583639 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 23570354 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 182
(M182R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137799
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043356]
[ENSMUST00000093267]
[ENSMUST00000109532]
[ENSMUST00000141353]
[ENSMUST00000155903]
[ENSMUST00000180260]
|
AlphaFold |
Q68FF0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043356
AA Change: M182R
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000044265 Gene: ENSMUSG00000042208 AA Change: M182R
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
AA Change: M36R
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000090955 Gene: ENSMUSG00000042208 AA Change: M36R
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
AA Change: M182R
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000105158 Gene: ENSMUSG00000042208 AA Change: M182R
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
AA Change: M36R
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000121553 Gene: ENSMUSG00000042208 AA Change: M36R
Domain | Start | End | E-Value | Type |
Pfam:DUF3342
|
1 |
189 |
7.1e-75 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155903
AA Change: M182R
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000137799 Gene: ENSMUSG00000042208 AA Change: M182R
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
AA Change: M182R
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000136118 Gene: ENSMUSG00000042208 AA Change: M182R
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 |
|
Meta Mutation Damage Score |
0.0617 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm4 |
C |
A |
7: 119,302,597 (GRCm39) |
H241N |
probably damaging |
Het |
Arhgap32 |
G |
A |
9: 32,168,095 (GRCm39) |
A693T |
probably damaging |
Het |
B4galnt3 |
G |
T |
6: 120,191,759 (GRCm39) |
A658D |
probably damaging |
Het |
Car12 |
G |
A |
9: 66,653,895 (GRCm39) |
E84K |
probably benign |
Het |
Crocc2 |
T |
A |
1: 93,133,624 (GRCm39) |
S969T |
probably damaging |
Het |
Crym |
A |
G |
7: 119,794,667 (GRCm39) |
V184A |
possibly damaging |
Het |
Cryzl2 |
T |
C |
1: 157,292,583 (GRCm39) |
C122R |
probably damaging |
Het |
Defb30 |
T |
C |
14: 63,273,463 (GRCm39) |
E49G |
probably benign |
Het |
Dnah3 |
A |
G |
7: 119,550,803 (GRCm39) |
L3161P |
probably damaging |
Het |
Dnajc5g |
A |
G |
5: 31,267,036 (GRCm39) |
N104S |
probably benign |
Het |
Fcgr1 |
T |
G |
3: 96,194,302 (GRCm39) |
K195T |
probably damaging |
Het |
Gal |
C |
T |
19: 3,461,167 (GRCm39) |
R89H |
probably damaging |
Het |
Gcfc2 |
C |
T |
6: 81,925,316 (GRCm39) |
A577V |
probably benign |
Het |
Gm5116 |
A |
C |
7: 32,195,379 (GRCm39) |
|
noncoding transcript |
Het |
Golga3 |
A |
T |
5: 110,340,806 (GRCm39) |
Q540L |
probably damaging |
Het |
Hectd1 |
T |
C |
12: 51,797,171 (GRCm39) |
E2184G |
probably damaging |
Het |
Hspa12a |
T |
C |
19: 58,787,977 (GRCm39) |
D615G |
probably damaging |
Het |
Igkv14-130 |
A |
T |
6: 67,768,465 (GRCm39) |
Y107F |
probably damaging |
Het |
Ldlr |
T |
A |
9: 21,657,203 (GRCm39) |
|
probably null |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Lrrc37a |
A |
T |
11: 103,389,066 (GRCm39) |
S2120T |
unknown |
Het |
Mtfmt |
G |
T |
9: 65,346,897 (GRCm39) |
V164F |
probably damaging |
Het |
Nampt |
T |
C |
12: 32,883,037 (GRCm39) |
V74A |
probably damaging |
Het |
Ndufc2 |
G |
T |
7: 97,056,871 (GRCm39) |
R120L |
probably damaging |
Het |
Neo1 |
A |
T |
9: 58,801,194 (GRCm39) |
V1156D |
possibly damaging |
Het |
Nlrp1b |
G |
A |
11: 71,050,898 (GRCm39) |
P1065S |
possibly damaging |
Het |
Nop9 |
A |
G |
14: 55,983,397 (GRCm39) |
H56R |
possibly damaging |
Het |
Or4k41 |
A |
T |
2: 111,279,934 (GRCm39) |
T150S |
probably benign |
Het |
Or6c75 |
A |
T |
10: 129,337,178 (GRCm39) |
M142L |
possibly damaging |
Het |
Pign |
A |
T |
1: 105,449,798 (GRCm39) |
N909K |
possibly damaging |
Het |
Prex1 |
A |
G |
2: 166,414,883 (GRCm39) |
V304A |
probably benign |
Het |
Racgap1 |
G |
A |
15: 99,526,643 (GRCm39) |
R307W |
probably damaging |
Het |
Rap1gds1 |
C |
A |
3: 138,661,181 (GRCm39) |
E399* |
probably null |
Het |
Rwdd4a |
G |
A |
8: 47,995,837 (GRCm39) |
|
probably null |
Het |
Scp2 |
T |
C |
4: 107,928,488 (GRCm39) |
T401A |
probably benign |
Het |
Sdha |
A |
G |
13: 74,475,452 (GRCm39) |
F526S |
probably damaging |
Het |
Shroom1 |
T |
A |
11: 53,354,872 (GRCm39) |
L264Q |
probably benign |
Het |
Sorl1 |
T |
C |
9: 41,907,590 (GRCm39) |
T1466A |
probably benign |
Het |
Trpm2 |
C |
T |
10: 77,801,852 (GRCm39) |
C71Y |
probably damaging |
Het |
Ugt2b34 |
G |
A |
5: 87,052,246 (GRCm39) |
S250L |
probably benign |
Het |
Vmn2r88 |
A |
G |
14: 51,650,638 (GRCm39) |
D117G |
probably benign |
Het |
Wdr73 |
A |
T |
7: 80,542,173 (GRCm39) |
|
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 |
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'- AGTTTAGGCCTGAAGCAGCC -3'
(R):5'- TGTGGTCCAACTCTTCAAATCC -3'
Sequencing Primer
(F):5'- TGAAGCAGCCACCAGATG -3'
(R):5'- GTCTAACCTCCACTAAATGTCAGTG -3'
|
Posted On |
2016-06-15 |