Incidental Mutation 'R7618:Sanbr'
ID |
589008 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sanbr
|
Ensembl Gene |
ENSMUSG00000042208 |
Gene Name |
SANT and BTB domain regulator of CSR |
Synonyms |
0610010F05Rik |
MMRRC Submission |
045685-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.156)
|
Stock # |
R7618 (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 C
at 23534550 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tryptophan
at position 602
(C602W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136118
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043356]
[ENSMUST00000093267]
[ENSMUST00000109532]
[ENSMUST00000123909]
[ENSMUST00000155903]
[ENSMUST00000180260]
|
AlphaFold |
Q68FF0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043356
AA Change: C602W
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000044265 Gene: ENSMUSG00000042208 AA Change: C602W
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 |
possibly damaging
Transcript: ENSMUST00000093267
AA Change: C456W
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000090955 Gene: ENSMUSG00000042208 AA Change: C456W
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 |
possibly damaging
Transcript: ENSMUST00000109532
AA Change: C602W
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000105158 Gene: ENSMUSG00000042208 AA Change: C602W
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 |
possibly damaging
Transcript: ENSMUST00000123909
AA Change: C108W
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000117103 Gene: ENSMUSG00000042208 AA Change: C108W
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 damaging
Transcript: ENSMUST00000155903
AA Change: C602W
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000137799 Gene: ENSMUSG00000042208 AA Change: C602W
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 |
possibly damaging
Transcript: ENSMUST00000180260
AA Change: C602W
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000136118 Gene: ENSMUSG00000042208 AA Change: C602W
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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
98% (51/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap11 |
T |
C |
14: 78,736,300 (GRCm39) |
D1830G |
|
Het |
Alms1 |
A |
G |
6: 85,655,399 (GRCm39) |
N2846S |
probably benign |
Het |
Amt |
A |
C |
9: 108,177,077 (GRCm39) |
E228D |
probably damaging |
Het |
Ankar |
T |
C |
1: 72,714,925 (GRCm39) |
M618V |
probably benign |
Het |
Ankrd60 |
T |
C |
2: 173,412,834 (GRCm39) |
|
probably null |
Het |
Aoc1 |
A |
G |
6: 48,883,320 (GRCm39) |
T399A |
possibly damaging |
Het |
Aqp11 |
T |
A |
7: 97,386,873 (GRCm39) |
I108F |
probably benign |
Het |
Arfgef3 |
G |
T |
10: 18,522,029 (GRCm39) |
Q666K |
probably damaging |
Het |
Bin2 |
T |
A |
15: 100,542,894 (GRCm39) |
R430W |
probably damaging |
Het |
Brme1 |
A |
G |
8: 84,893,499 (GRCm39) |
Q222R |
possibly damaging |
Het |
Cdh18 |
T |
A |
15: 23,367,056 (GRCm39) |
V254D |
probably damaging |
Het |
Cfap46 |
A |
T |
7: 139,183,155 (GRCm39) |
S159R |
|
Het |
Clnk |
A |
T |
5: 38,893,698 (GRCm39) |
S220T |
probably benign |
Het |
Col19a1 |
G |
T |
1: 24,361,165 (GRCm39) |
H608Q |
probably benign |
Het |
Cplx1 |
C |
T |
5: 108,673,395 (GRCm39) |
E24K |
possibly damaging |
Het |
Dnah3 |
A |
T |
7: 119,577,601 (GRCm39) |
L2031Q |
probably damaging |
Het |
Dok1 |
T |
C |
6: 83,009,872 (GRCm39) |
E79G |
probably benign |
Het |
Eif4g3 |
T |
C |
4: 137,898,429 (GRCm39) |
S902P |
probably damaging |
Het |
Emilin3 |
T |
A |
2: 160,751,199 (GRCm39) |
E183D |
probably benign |
Het |
Fam124b |
G |
A |
1: 80,191,554 (GRCm39) |
|
probably benign |
Het |
Gm9195 |
T |
C |
14: 72,690,275 (GRCm39) |
Y1816C |
probably damaging |
Het |
Ighv5-9-1 |
T |
A |
12: 113,699,819 (GRCm39) |
I98F |
probably damaging |
Het |
Il31ra |
G |
A |
13: 112,688,514 (GRCm39) |
P21L |
possibly damaging |
Het |
Kat6a |
A |
G |
8: 23,352,578 (GRCm39) |
I121V |
possibly damaging |
Het |
Kif11 |
T |
C |
19: 37,400,008 (GRCm39) |
W832R |
probably benign |
Het |
Klhl9 |
T |
C |
4: 88,638,772 (GRCm39) |
T490A |
possibly damaging |
Het |
Lars1 |
G |
T |
18: 42,377,956 (GRCm39) |
A153E |
probably benign |
Het |
Muc5b |
A |
T |
7: 141,421,334 (GRCm39) |
I4275L |
probably benign |
Het |
Myo10 |
T |
A |
15: 25,726,561 (GRCm39) |
C294* |
probably null |
Het |
Nceh1 |
T |
A |
3: 27,237,366 (GRCm39) |
|
probably null |
Het |
Ncf1 |
T |
A |
5: 134,256,121 (GRCm39) |
T93S |
probably benign |
Het |
Nfatc2 |
G |
A |
2: 168,376,919 (GRCm39) |
R545C |
probably damaging |
Het |
Nos1 |
C |
T |
5: 118,042,009 (GRCm39) |
P545S |
probably benign |
Het |
Ogfod3 |
C |
A |
11: 121,093,804 (GRCm39) |
V69F |
probably damaging |
Het |
Or4a27 |
A |
T |
2: 88,559,180 (GRCm39) |
Y254* |
probably null |
Het |
Phf12 |
A |
G |
11: 77,916,960 (GRCm39) |
N272S |
unknown |
Het |
Prkcz |
T |
A |
4: 155,346,939 (GRCm39) |
I581F |
probably damaging |
Het |
Rasgrf2 |
T |
C |
13: 92,136,085 (GRCm39) |
H8R |
|
Het |
Rb1cc1 |
T |
A |
1: 6,335,782 (GRCm39) |
|
probably null |
Het |
Rcor2 |
T |
A |
19: 7,248,411 (GRCm39) |
M186K |
possibly damaging |
Het |
Rnf111 |
C |
A |
9: 70,410,614 (GRCm39) |
|
probably benign |
Het |
Serinc3 |
A |
T |
2: 163,472,889 (GRCm39) |
F247Y |
possibly damaging |
Het |
Serpina1c |
T |
A |
12: 103,865,029 (GRCm39) |
I206F |
probably damaging |
Het |
Slc25a10 |
G |
A |
11: 120,387,797 (GRCm39) |
|
probably null |
Het |
Syne2 |
T |
G |
12: 75,992,108 (GRCm39) |
H1993Q |
probably benign |
Het |
Tap1 |
A |
G |
17: 34,407,212 (GRCm39) |
Y120C |
possibly damaging |
Het |
Tex30 |
A |
T |
1: 44,127,410 (GRCm39) |
|
probably null |
Het |
Ube2ql1 |
G |
T |
13: 69,887,066 (GRCm39) |
Q132K |
probably benign |
Het |
Unc13d |
T |
C |
11: 115,957,547 (GRCm39) |
N803D |
probably damaging |
Het |
Vcan |
G |
A |
13: 89,840,342 (GRCm39) |
S1734F |
probably damaging |
Het |
Wdfy4 |
T |
C |
14: 32,707,696 (GRCm39) |
Y2630C |
|
Het |
Wdr93 |
A |
G |
7: 79,435,474 (GRCm39) |
T668A |
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 |
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 |
|
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'- TCCAAAGGTCCCACATCTTC -3'
(R):5'- ATTAGAACAAGCCCTGTGCAG -3'
Sequencing Primer
(F):5'- AGGTCCCACATCTTCCAGAGTC -3'
(R):5'- GTGCAGCAGCTTCATTCTGAC -3'
|
Posted On |
2019-10-24 |