Incidental Mutation 'R6910:Sanbr'
ID |
538983 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sanbr
|
Ensembl Gene |
ENSMUSG00000042208 |
Gene Name |
SANT and BTB domain regulator of CSR |
Synonyms |
0610010F05Rik |
MMRRC Submission |
045002-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.173)
|
Stock # |
R6910 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
23514961-23583639 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 23570447 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 151
(V151A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136118
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043356]
[ENSMUST00000093267]
[ENSMUST00000109532]
[ENSMUST00000141353]
[ENSMUST00000155903]
[ENSMUST00000180260]
|
AlphaFold |
Q68FF0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043356
AA Change: V151A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000044265 Gene: ENSMUSG00000042208 AA Change: V151A
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 damaging
Transcript: ENSMUST00000093267
AA Change: V5A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000090955 Gene: ENSMUSG00000042208 AA Change: V5A
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 damaging
Transcript: ENSMUST00000109532
AA Change: V151A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000105158 Gene: ENSMUSG00000042208 AA Change: V151A
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 damaging
Transcript: ENSMUST00000141353
AA Change: V5A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000121553 Gene: ENSMUSG00000042208 AA Change: V5A
Domain | Start | End | E-Value | Type |
Pfam:DUF3342
|
1 |
189 |
7.1e-75 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155903
AA Change: V151A
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000137799 Gene: ENSMUSG00000042208 AA Change: V151A
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 damaging
Transcript: ENSMUST00000180260
AA Change: V151A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000136118 Gene: ENSMUSG00000042208 AA Change: V151A
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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cfap54 |
A |
G |
10: 92,672,374 (GRCm39) |
S2899P |
probably benign |
Het |
Chil5 |
A |
G |
3: 105,926,977 (GRCm39) |
W82R |
probably damaging |
Het |
Dennd3 |
A |
G |
15: 73,426,965 (GRCm39) |
T781A |
probably benign |
Het |
Epha2 |
A |
G |
4: 141,048,824 (GRCm39) |
D597G |
probably damaging |
Het |
Gcn1 |
A |
G |
5: 115,744,597 (GRCm39) |
T1598A |
probably benign |
Het |
Glp2r |
A |
G |
11: 67,621,497 (GRCm39) |
F162S |
probably benign |
Het |
Gm17655 |
T |
A |
5: 110,195,039 (GRCm39) |
R248* |
probably null |
Het |
Gnptab |
G |
A |
10: 88,267,258 (GRCm39) |
G450S |
probably damaging |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Hapln2 |
A |
G |
3: 87,931,135 (GRCm39) |
Y127H |
probably damaging |
Het |
Hdac4 |
G |
T |
1: 91,909,875 (GRCm39) |
T463K |
probably damaging |
Het |
Ift80 |
A |
C |
3: 68,835,068 (GRCm39) |
S458A |
probably benign |
Het |
Lama1 |
A |
G |
17: 68,098,459 (GRCm39) |
D1846G |
possibly damaging |
Het |
Map3k8 |
A |
G |
18: 4,340,801 (GRCm39) |
I171T |
probably benign |
Het |
Micu1 |
A |
G |
10: 59,576,489 (GRCm39) |
E115G |
probably damaging |
Het |
Mrpl39 |
A |
G |
16: 84,532,080 (GRCm39) |
V9A |
unknown |
Het |
Ncoa7 |
T |
G |
10: 30,570,117 (GRCm39) |
I281L |
possibly damaging |
Het |
Nms |
A |
G |
1: 38,980,976 (GRCm39) |
E54G |
probably benign |
Het |
Nrip1 |
G |
A |
16: 76,091,305 (GRCm39) |
A84V |
probably damaging |
Het |
Or10ak9 |
T |
A |
4: 118,726,335 (GRCm39) |
M119K |
probably damaging |
Het |
Or11g27 |
G |
A |
14: 50,771,330 (GRCm39) |
V154M |
probably benign |
Het |
Pcdhga10 |
T |
A |
18: 37,881,285 (GRCm39) |
S349T |
probably damaging |
Het |
R3hcc1 |
G |
A |
14: 69,935,024 (GRCm39) |
P454L |
probably damaging |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Ryr3 |
T |
C |
2: 112,788,520 (GRCm39) |
D170G |
probably damaging |
Het |
Scp2 |
C |
A |
4: 107,962,283 (GRCm39) |
G81C |
probably damaging |
Het |
Sez6 |
A |
G |
11: 77,844,695 (GRCm39) |
T173A |
possibly damaging |
Het |
Syne1 |
T |
C |
10: 4,998,887 (GRCm39) |
H8142R |
probably benign |
Het |
Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
Tnfrsf11a |
A |
G |
1: 105,772,272 (GRCm39) |
T520A |
probably damaging |
Het |
Tpm1 |
A |
G |
9: 66,939,256 (GRCm39) |
S170P |
probably damaging |
Het |
Try5 |
T |
C |
6: 41,288,733 (GRCm39) |
D54G |
possibly damaging |
Het |
Vmn2r-ps158 |
T |
C |
7: 42,673,475 (GRCm39) |
F178L |
probably benign |
Het |
Zan |
T |
C |
5: 137,417,342 (GRCm39) |
E3041G |
unknown |
Het |
Zfp1001 |
A |
T |
2: 150,165,987 (GRCm39) |
Q56L |
probably benign |
Het |
Zfp616 |
A |
T |
11: 73,975,828 (GRCm39) |
H699L |
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 |
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 |
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'- GCGGGAATCTCACAATCTTTACTC -3'
(R):5'- TGGGTAGCTTGCTAAAATTAACCAC -3'
Sequencing Primer
(F):5'- GTTCCGTTTAACATATTTTATCAGCC -3'
(R):5'- CCACAATCTGAGGAACAATTAGATAG -3'
|
Posted On |
2018-11-06 |