Incidental Mutation 'R4373:Sanbr'
ID |
326069 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sanbr
|
Ensembl Gene |
ENSMUSG00000042208 |
Gene Name |
SANT and BTB domain regulator of CSR |
Synonyms |
0610010F05Rik |
MMRRC Submission |
041675-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.156)
|
Stock # |
R4373 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
23514961-23583639 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 23565265 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136118
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043356]
[ENSMUST00000043356]
[ENSMUST00000093267]
[ENSMUST00000093267]
[ENSMUST00000109532]
[ENSMUST00000109532]
[ENSMUST00000141353]
[ENSMUST00000141353]
[ENSMUST00000155903]
[ENSMUST00000180260]
[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: 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: 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: 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: ENSMUST00000141353
|
SMART Domains |
Protein: ENSMUSP00000121553 Gene: ENSMUSG00000042208
Domain | Start | End | E-Value | Type |
Pfam:DUF3342
|
1 |
189 |
7.1e-75 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000141353
|
SMART Domains |
Protein: ENSMUSP00000121553 Gene: ENSMUSG00000042208
Domain | Start | End | E-Value | Type |
Pfam:DUF3342
|
1 |
189 |
7.1e-75 |
PFAM |
|
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 |
|
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
98% (54/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck5 |
A |
G |
15: 76,478,535 (GRCm39) |
|
probably benign |
Het |
Akr1b1 |
A |
C |
6: 34,281,202 (GRCm39) |
|
probably benign |
Het |
Armh4 |
T |
A |
14: 50,007,893 (GRCm39) |
T527S |
probably damaging |
Het |
Asns |
A |
T |
6: 7,677,978 (GRCm39) |
S367T |
probably damaging |
Het |
BC034090 |
T |
C |
1: 155,101,904 (GRCm39) |
N120S |
probably benign |
Het |
Bub1 |
A |
T |
2: 127,647,156 (GRCm39) |
|
probably benign |
Het |
Csf1 |
T |
A |
3: 107,664,055 (GRCm39) |
T38S |
probably damaging |
Het |
Ctsz |
T |
C |
2: 174,270,378 (GRCm39) |
E268G |
possibly damaging |
Het |
Dach1 |
G |
A |
14: 98,065,186 (GRCm39) |
T685I |
possibly damaging |
Het |
Dclre1a |
A |
G |
19: 56,533,874 (GRCm39) |
L240S |
probably benign |
Het |
Ercc1 |
G |
A |
7: 19,081,057 (GRCm39) |
|
probably benign |
Het |
Esam |
C |
T |
9: 37,445,492 (GRCm39) |
T71I |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Gde1 |
A |
G |
7: 118,297,781 (GRCm39) |
L35P |
possibly damaging |
Het |
Gm10382 |
A |
G |
5: 125,466,647 (GRCm39) |
|
probably benign |
Het |
H2-M10.6 |
T |
C |
17: 37,123,958 (GRCm39) |
Y141H |
probably damaging |
Het |
Hk1 |
C |
A |
10: 62,151,319 (GRCm39) |
K10N |
probably damaging |
Het |
Lamc3 |
A |
G |
2: 31,788,244 (GRCm39) |
K135E |
probably damaging |
Het |
Lrtm2 |
A |
G |
6: 119,297,489 (GRCm39) |
F184S |
probably damaging |
Het |
Marchf11 |
A |
G |
15: 26,309,532 (GRCm39) |
E62G |
probably damaging |
Het |
Mtcl1 |
T |
A |
17: 66,687,074 (GRCm39) |
T611S |
probably benign |
Het |
Myc |
A |
T |
15: 61,861,513 (GRCm39) |
H373L |
probably damaging |
Het |
Myh6 |
T |
A |
14: 55,199,565 (GRCm39) |
I249F |
probably damaging |
Het |
Naaa |
T |
C |
5: 92,426,002 (GRCm39) |
|
probably benign |
Het |
Nfib |
A |
G |
4: 82,241,895 (GRCm39) |
V432A |
probably damaging |
Het |
Nmt1 |
A |
G |
11: 102,934,026 (GRCm39) |
K55R |
probably damaging |
Het |
Opa3 |
C |
T |
7: 18,978,699 (GRCm39) |
R55W |
probably damaging |
Het |
Or4c122 |
T |
C |
2: 89,079,589 (GRCm39) |
R150G |
possibly damaging |
Het |
Pfn4 |
T |
A |
12: 4,820,182 (GRCm39) |
D10E |
probably damaging |
Het |
Pld5 |
T |
A |
1: 175,967,583 (GRCm39) |
I91F |
probably damaging |
Het |
Plec |
A |
C |
15: 76,067,317 (GRCm39) |
S1350A |
probably damaging |
Het |
Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
Ppp1r16b |
T |
C |
2: 158,603,685 (GRCm39) |
Y537H |
probably damaging |
Het |
Prdm8 |
T |
C |
5: 98,334,367 (GRCm39) |
S645P |
probably damaging |
Het |
Rgs1 |
T |
C |
1: 144,123,644 (GRCm39) |
T94A |
probably benign |
Het |
Rpl11 |
G |
A |
4: 135,778,454 (GRCm39) |
|
probably benign |
Het |
Scamp3 |
G |
A |
3: 89,089,234 (GRCm39) |
|
probably null |
Het |
Sgsm1 |
TTTTATATT |
TTT |
5: 113,405,989 (GRCm39) |
|
probably benign |
Het |
Sirpb1b |
A |
T |
3: 15,613,821 (GRCm39) |
I87K |
probably damaging |
Het |
Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
Stat4 |
T |
C |
1: 52,111,100 (GRCm39) |
|
probably null |
Het |
Tex9 |
A |
T |
9: 72,387,877 (GRCm39) |
|
probably null |
Het |
Tsku |
T |
C |
7: 98,002,038 (GRCm39) |
T98A |
probably benign |
Het |
Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
Vmn2r116 |
A |
C |
17: 23,620,395 (GRCm39) |
I710L |
probably benign |
Het |
Vmn2r16 |
A |
T |
5: 109,511,667 (GRCm39) |
I625F |
probably damaging |
Het |
Xpo4 |
G |
A |
14: 57,828,479 (GRCm39) |
Q794* |
probably null |
Het |
Zfp112 |
T |
A |
7: 23,824,473 (GRCm39) |
I147N |
probably damaging |
Het |
Zmiz1 |
T |
C |
14: 25,636,434 (GRCm39) |
S140P |
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 |
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'- ACAGCTCATTACCACCATATATTCA -3'
(R):5'- CCTTCTACAGTCATTCAAAGTACATTA -3'
Sequencing Primer
(F):5'- GTAAGTGGTTTCCTGACATCCACATG -3'
(R):5'- AACCCAGTTACTGGCTCT -3'
|
Posted On |
2015-07-06 |