Incidental Mutation 'R9583:Sanbr'
| ID |
722670 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sanbr
|
| Ensembl Gene |
ENSMUSG00000042208 |
| Gene Name |
SANT and BTB domain regulator of CSR |
| Synonyms |
0610010F05Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R9583 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
23514961-23583639 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 23531642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 661
(M661R)
|
| 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: M661R
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000044265
Gene: ENSMUSG00000042208
AA Change: M661R
| 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: M515R
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000090955
Gene: ENSMUSG00000042208
AA Change: M515R
| 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: M661R
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105158
Gene: ENSMUSG00000042208
AA Change: M661R
| 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: M167R
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000117103
Gene: ENSMUSG00000042208
AA Change: M167R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
102 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155903
AA Change: M661R
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000137799
Gene: ENSMUSG00000042208
AA Change: M661R
| 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: M661R
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000136118
Gene: ENSMUSG00000042208
AA Change: M661R
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
A |
T |
10: 28,862,092 (GRCm39) |
I66N |
probably damaging |
Het |
| Adgrg3 |
A |
T |
8: 95,760,071 (GRCm39) |
I97F |
probably benign |
Het |
| AI987944 |
T |
A |
7: 41,023,937 (GRCm39) |
R350S |
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,109,096 (GRCm39) |
T1214A |
probably damaging |
Het |
| Arid5a |
A |
G |
1: 36,356,739 (GRCm39) |
E127G |
possibly damaging |
Het |
| Bbx |
T |
C |
16: 50,044,920 (GRCm39) |
E547G |
possibly damaging |
Het |
| Ceacam16 |
T |
C |
7: 19,587,803 (GRCm39) |
I322V |
probably damaging |
Het |
| Chd2 |
G |
T |
7: 73,130,230 (GRCm39) |
N808K |
probably damaging |
Het |
| Copg2 |
A |
C |
6: 30,787,399 (GRCm39) |
L615* |
probably null |
Het |
| Cyp21a1 |
A |
G |
17: 35,022,017 (GRCm39) |
L221P |
probably damaging |
Het |
| Dnah9 |
C |
A |
11: 65,856,507 (GRCm39) |
V2885L |
probably damaging |
Het |
| Dnajb13 |
A |
G |
7: 100,152,446 (GRCm39) |
L290P |
probably damaging |
Het |
| Eif3e |
A |
G |
15: 43,128,957 (GRCm39) |
V221A |
probably damaging |
Het |
| Evc |
G |
A |
5: 37,473,701 (GRCm39) |
R511* |
probably null |
Het |
| Far2 |
C |
T |
6: 148,059,434 (GRCm39) |
P250S |
probably damaging |
Het |
| Fmo1 |
T |
A |
1: 162,686,996 (GRCm39) |
T44S |
|
Het |
| Grid1 |
A |
G |
14: 35,302,492 (GRCm39) |
E919G |
possibly damaging |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Hoxb2 |
A |
G |
11: 96,242,725 (GRCm39) |
E30G |
probably damaging |
Het |
| Il5ra |
G |
A |
6: 106,689,331 (GRCm39) |
P75L |
unknown |
Het |
| Il5ra |
T |
A |
6: 106,721,297 (GRCm39) |
M1L |
possibly damaging |
Het |
| Inpp4b |
T |
C |
8: 82,497,555 (GRCm39) |
|
probably null |
Het |
| Itgb8 |
T |
A |
12: 119,153,708 (GRCm39) |
H269L |
possibly damaging |
Het |
| Jrk |
G |
A |
15: 74,578,403 (GRCm39) |
A294V |
probably damaging |
Het |
| Knl1 |
A |
T |
2: 118,887,782 (GRCm39) |
D2V |
probably damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,650,258 (GRCm39) |
I272V |
possibly damaging |
Het |
| Mdn1 |
T |
C |
4: 32,741,372 (GRCm39) |
S3825P |
probably damaging |
Het |
| Mex3d |
C |
A |
10: 80,218,129 (GRCm39) |
V363L |
|
Het |
| Mfsd13b |
C |
A |
7: 120,598,134 (GRCm39) |
H347N |
possibly damaging |
Het |
| Mllt1 |
G |
T |
17: 57,209,572 (GRCm39) |
H179Q |
probably benign |
Het |
| Mmp14 |
A |
T |
14: 54,678,069 (GRCm39) |
R563S |
probably benign |
Het |
| Ms4a18 |
T |
C |
19: 10,974,714 (GRCm39) |
T326A |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,549,973 (GRCm39) |
D5440G |
probably benign |
Het |
| Muc2 |
A |
T |
7: 141,300,559 (GRCm39) |
E294V |
|
Het |
| Myh7b |
A |
G |
2: 155,459,641 (GRCm39) |
N241S |
probably damaging |
Het |
| Myo1b |
T |
C |
1: 51,796,404 (GRCm39) |
I1007V |
possibly damaging |
Het |
| Or10j5 |
T |
C |
1: 172,784,893 (GRCm39) |
F177S |
probably damaging |
Het |
| Or4a77 |
A |
G |
2: 89,487,005 (GRCm39) |
V260A |
possibly damaging |
Het |
| Or8g33 |
T |
A |
9: 39,337,851 (GRCm39) |
D172V |
possibly damaging |
Het |
| Pan2 |
T |
C |
10: 128,140,135 (GRCm39) |
S19P |
probably benign |
Het |
| Pkn3 |
A |
G |
2: 29,976,723 (GRCm39) |
D588G |
probably null |
Het |
| Pkp4 |
A |
G |
2: 59,178,104 (GRCm39) |
N988D |
possibly damaging |
Het |
| Plxdc1 |
T |
C |
11: 97,824,844 (GRCm39) |
D344G |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,192,169 (GRCm39) |
R807H |
possibly damaging |
Het |
| Potefam3b |
T |
A |
8: 21,174,962 (GRCm39) |
F285I |
possibly damaging |
Het |
| Prdm15 |
A |
T |
16: 97,623,142 (GRCm39) |
S237T |
probably benign |
Het |
| Slc9a2 |
G |
A |
1: 40,721,061 (GRCm39) |
V10M |
probably benign |
Het |
| Sytl2 |
T |
C |
7: 90,024,800 (GRCm39) |
S263P |
probably benign |
Het |
| Taf7l2 |
A |
T |
10: 115,948,931 (GRCm39) |
D198E |
probably benign |
Het |
| Trrap |
G |
A |
5: 144,777,330 (GRCm39) |
V3043M |
probably damaging |
Het |
| Tshz3 |
C |
T |
7: 36,470,492 (GRCm39) |
T827I |
possibly damaging |
Het |
| Ttll1 |
T |
C |
15: 83,384,226 (GRCm39) |
T134A |
possibly damaging |
Het |
| Vmn1r196 |
G |
T |
13: 22,477,920 (GRCm39) |
M186I |
probably damaging |
Het |
| Vrk2 |
C |
T |
11: 26,433,157 (GRCm39) |
|
probably null |
Het |
| Zfp59 |
T |
A |
7: 27,554,483 (GRCm39) |
V645E |
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 |
|
|
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 |
|
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'- GCCGGAGTGAGCAGGATC -3'
(R):5'- GCTATTTGCTACATGCTACCTTAAA -3'
Sequencing Primer
(F):5'- TCAGGATGTAGAACTCTCACCTG -3'
(R):5'- TTCTCTATAGCCCTGGCA -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation