Incidental Mutation 'R7885:Sltm'
| ID |
609013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sltm
|
| Ensembl Gene |
ENSMUSG00000032212 |
| Gene Name |
SAFB-like, transcription modulator |
| Synonyms |
9130215G10Rik, 5730555F13Rik, 5730455C01Rik |
| MMRRC Submission |
045937-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
R7885 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
70542754-70592234 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 70586673 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Arginine
at position 802
(P802R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049263]
[ENSMUST00000216816]
[ENSMUST00000217593]
|
| AlphaFold |
Q8CH25 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049263
AA Change: P802R
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000049112
Gene: ENSMUSG00000032212
AA Change: P802R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
SAP
|
22 |
56 |
2.49e-10 |
SMART |
|
low complexity region
|
74 |
86 |
N/A |
INTRINSIC |
|
coiled coil region
|
152 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
318 |
330 |
N/A |
INTRINSIC |
|
low complexity region
|
352 |
384 |
N/A |
INTRINSIC |
|
RRM
|
385 |
458 |
2.06e-16 |
SMART |
|
low complexity region
|
498 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
536 |
552 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
601 |
N/A |
INTRINSIC |
|
coiled coil region
|
635 |
727 |
N/A |
INTRINSIC |
|
low complexity region
|
824 |
853 |
N/A |
INTRINSIC |
|
low complexity region
|
979 |
990 |
N/A |
INTRINSIC |
|
low complexity region
|
1015 |
1028 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216816
AA Change: P784R
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217593
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110002H16Rik |
T |
C |
18: 12,189,314 (GRCm38) |
L608P |
probably damaging |
Het |
| Adarb1 |
A |
G |
10: 77,295,708 (GRCm38) |
V649A |
possibly damaging |
Het |
| Arglu1 |
C |
T |
8: 8,667,337 (GRCm38) |
R244H |
possibly damaging |
Het |
| Asic5 |
A |
T |
3: 82,006,505 (GRCm38) |
Y204F |
probably benign |
Het |
| Asz1 |
A |
G |
6: 18,104,877 (GRCm38) |
F76S |
probably damaging |
Het |
| Bin1 |
G |
A |
18: 32,419,843 (GRCm38) |
A174T |
probably damaging |
Het |
| Bnipl |
A |
C |
3: 95,250,240 (GRCm38) |
S23A |
probably benign |
Het |
| Cd19 |
T |
C |
7: 126,412,131 (GRCm38) |
T294A |
probably benign |
Het |
| Cdon |
G |
A |
9: 35,456,522 (GRCm38) |
V238I |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,356,625 (GRCm38) |
D957E |
probably benign |
Het |
| Crhbp |
T |
C |
13: 95,432,007 (GRCm38) |
Q307R |
probably damaging |
Het |
| Cst3 |
A |
G |
2: 148,872,821 (GRCm38) |
M112T |
probably benign |
Het |
| Dgkb |
A |
G |
12: 38,139,426 (GRCm38) |
E276G |
probably damaging |
Het |
| Exoc4 |
T |
A |
6: 33,758,066 (GRCm38) |
N539K |
probably benign |
Het |
| Gm3099 |
A |
G |
14: 3,999,461 (GRCm38) |
E85G |
probably benign |
Het |
| Gpatch2 |
A |
G |
1: 187,225,501 (GRCm38) |
|
probably null |
Het |
| Hs3st5 |
T |
A |
10: 36,828,780 (GRCm38) |
Y26* |
probably null |
Het |
| Hspg2 |
A |
T |
4: 137,516,837 (GRCm38) |
D802V |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,601,469 (GRCm38) |
V846A |
possibly damaging |
Het |
| Lama4 |
T |
A |
10: 39,088,844 (GRCm38) |
S1402T |
probably benign |
Het |
| Lrmda |
A |
G |
14: 22,598,320 (GRCm38) |
T73A |
unknown |
Het |
| Lrrc1 |
A |
T |
9: 77,442,189 (GRCm38) |
V365E |
probably damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,503,042 (GRCm38) |
Q519L |
probably benign |
Het |
| Mlc1 |
G |
T |
15: 88,977,904 (GRCm38) |
D36E |
probably benign |
Het |
| Mrc2 |
A |
T |
11: 105,332,266 (GRCm38) |
D445V |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,639,464 (GRCm38) |
S5178P |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,665,689 (GRCm38) |
I2491T |
probably damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,339,044 (GRCm38) |
I77T |
probably damaging |
Het |
| Npepps |
G |
T |
11: 97,218,648 (GRCm38) |
H701N |
probably damaging |
Het |
| Olfr733 |
T |
G |
14: 50,298,584 (GRCm38) |
T242P |
probably damaging |
Het |
| Olfr837 |
A |
T |
9: 19,137,535 (GRCm38) |
I181F |
possibly damaging |
Het |
| Pclo |
T |
TTCTAG |
5: 14,714,195 (GRCm38) |
|
probably null |
Het |
| Pclo |
TCTAT |
TCTATACTAT |
5: 14,714,191 (GRCm38) |
|
probably null |
Het |
| Pclo |
GTCTAT |
GTCTATTCTAT |
5: 14,714,190 (GRCm38) |
|
probably null |
Het |
| Pi4kb |
T |
C |
3: 94,999,076 (GRCm38) |
Y645H |
probably damaging |
Het |
| Pik3r5 |
C |
T |
11: 68,492,702 (GRCm38) |
A449V |
possibly damaging |
Het |
| Plat |
A |
G |
8: 22,771,720 (GRCm38) |
T45A |
probably benign |
Het |
| Platr25 |
T |
C |
13: 62,700,862 (GRCm38) |
K62R |
possibly damaging |
Het |
| Ppp5c |
A |
G |
7: 17,006,186 (GRCm38) |
V410A |
possibly damaging |
Het |
| Prdm2 |
C |
T |
4: 143,134,570 (GRCm38) |
A717T |
probably benign |
Het |
| Pstpip2 |
C |
A |
18: 77,794,722 (GRCm38) |
T2K |
probably benign |
Het |
| Ptpn12 |
A |
C |
5: 20,998,525 (GRCm38) |
S418R |
possibly damaging |
Het |
| Rint1 |
A |
G |
5: 23,805,644 (GRCm38) |
S255G |
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,878,912 (GRCm38) |
H1581R |
probably benign |
Het |
| Stau2 |
T |
C |
1: 16,460,353 (GRCm38) |
Y114C |
unknown |
Het |
| Ticam1 |
T |
C |
17: 56,271,067 (GRCm38) |
T343A |
probably benign |
Het |
| Tmem131l |
T |
C |
3: 83,910,417 (GRCm38) |
K1259E |
possibly damaging |
Het |
| Vmn2r103 |
T |
A |
17: 19,793,123 (GRCm38) |
F169I |
probably benign |
Het |
| Vps33a |
T |
C |
5: 123,535,249 (GRCm38) |
K425E |
possibly damaging |
Het |
| Vwa8 |
T |
C |
14: 79,020,649 (GRCm38) |
M746T |
probably benign |
Het |
| Zc3hav1 |
A |
G |
6: 38,336,663 (GRCm38) |
I149T |
possibly damaging |
Het |
| Zfp708 |
A |
T |
13: 67,074,129 (GRCm38) |
D62E |
probably benign |
Het |
|
| Other mutations in Sltm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00577:Sltm
|
APN |
9 |
70,579,342 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01755:Sltm
|
APN |
9 |
70,583,922 (GRCm38) |
splice site |
probably null |
|
|
IGL01782:Sltm
|
APN |
9 |
70,573,641 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02441:Sltm
|
APN |
9 |
70,587,185 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02831:Sltm
|
APN |
9 |
70,584,865 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02947:Sltm
|
APN |
9 |
70,591,664 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL03166:Sltm
|
APN |
9 |
70,542,969 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R0288:Sltm
|
UTSW |
9 |
70,579,351 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0555:Sltm
|
UTSW |
9 |
70,586,081 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0815:Sltm
|
UTSW |
9 |
70,561,908 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0863:Sltm
|
UTSW |
9 |
70,561,908 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1315:Sltm
|
UTSW |
9 |
70,543,065 (GRCm38) |
missense |
probably benign |
0.13 |
|
R1533:Sltm
|
UTSW |
9 |
70,586,666 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1676:Sltm
|
UTSW |
9 |
70,573,647 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1764:Sltm
|
UTSW |
9 |
70,561,800 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1845:Sltm
|
UTSW |
9 |
70,543,032 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R2049:Sltm
|
UTSW |
9 |
70,581,301 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2163:Sltm
|
UTSW |
9 |
70,591,682 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3410:Sltm
|
UTSW |
9 |
70,585,958 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4323:Sltm
|
UTSW |
9 |
70,580,247 (GRCm38) |
missense |
probably benign |
|
|
R4632:Sltm
|
UTSW |
9 |
70,579,369 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4748:Sltm
|
UTSW |
9 |
70,581,365 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4756:Sltm
|
UTSW |
9 |
70,591,610 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R4782:Sltm
|
UTSW |
9 |
70,589,057 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4799:Sltm
|
UTSW |
9 |
70,589,057 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4887:Sltm
|
UTSW |
9 |
70,588,978 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5221:Sltm
|
UTSW |
9 |
70,579,403 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5263:Sltm
|
UTSW |
9 |
70,584,799 (GRCm38) |
missense |
unknown |
|
|
R5982:Sltm
|
UTSW |
9 |
70,586,804 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6297:Sltm
|
UTSW |
9 |
70,581,359 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6456:Sltm
|
UTSW |
9 |
70,542,987 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6658:Sltm
|
UTSW |
9 |
70,581,362 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6720:Sltm
|
UTSW |
9 |
70,573,710 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6770:Sltm
|
UTSW |
9 |
70,584,777 (GRCm38) |
missense |
unknown |
|
|
R6923:Sltm
|
UTSW |
9 |
70,574,610 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7051:Sltm
|
UTSW |
9 |
70,559,066 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7166:Sltm
|
UTSW |
9 |
70,584,850 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7257:Sltm
|
UTSW |
9 |
70,543,965 (GRCm38) |
splice site |
probably null |
|
|
R7400:Sltm
|
UTSW |
9 |
70,586,070 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7438:Sltm
|
UTSW |
9 |
70,573,466 (GRCm38) |
missense |
unknown |
|
|
R7484:Sltm
|
UTSW |
9 |
70,573,897 (GRCm38) |
missense |
unknown |
|
|
R7630:Sltm
|
UTSW |
9 |
70,586,673 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7631:Sltm
|
UTSW |
9 |
70,586,673 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7632:Sltm
|
UTSW |
9 |
70,586,673 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7633:Sltm
|
UTSW |
9 |
70,586,673 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7862:Sltm
|
UTSW |
9 |
70,572,164 (GRCm38) |
nonsense |
probably null |
|
|
R7886:Sltm
|
UTSW |
9 |
70,586,673 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7888:Sltm
|
UTSW |
9 |
70,586,673 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7889:Sltm
|
UTSW |
9 |
70,586,673 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7891:Sltm
|
UTSW |
9 |
70,586,673 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7915:Sltm
|
UTSW |
9 |
70,587,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8030:Sltm
|
UTSW |
9 |
70,585,979 (GRCm38) |
nonsense |
probably null |
|
|
R8062:Sltm
|
UTSW |
9 |
70,573,497 (GRCm38) |
missense |
unknown |
|
|
R8099:Sltm
|
UTSW |
9 |
70,586,078 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8374:Sltm
|
UTSW |
9 |
70,561,945 (GRCm38) |
missense |
probably null |
|
|
R8698:Sltm
|
UTSW |
9 |
70,587,070 (GRCm38) |
missense |
probably benign |
0.27 |
|
R9541:Sltm
|
UTSW |
9 |
70,573,775 (GRCm38) |
missense |
unknown |
|
|
R9563:Sltm
|
UTSW |
9 |
70,573,559 (GRCm38) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAATGAGGGCTTTTCTGGCAGC -3'
(R):5'- TGGTCTAGAAGGATTGGGCAC -3'
Sequencing Primer
(F):5'- GCCTTGCCATAATTTCCCTTAAAAG -3'
(R):5'- CTAGAAGGATTGGGCACAGTCTCTC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation