Incidental Mutation 'R7885:Sltm'
ID |
609013 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sltm
|
Ensembl Gene |
ENSMUSG00000032212 |
Gene Name |
SAFB-like, transcription modulator |
Synonyms |
5730455C01Rik, 5730555F13Rik, 9130215G10Rik |
MMRRC Submission |
045937-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R7885 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
70450036-70499516 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 70493955 bp (GRCm39)
|
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 |
Adarb1 |
A |
G |
10: 77,131,542 (GRCm39) |
V649A |
possibly damaging |
Het |
Arglu1 |
C |
T |
8: 8,717,337 (GRCm39) |
R244H |
possibly damaging |
Het |
Asic5 |
A |
T |
3: 81,913,812 (GRCm39) |
Y204F |
probably benign |
Het |
Asz1 |
A |
G |
6: 18,104,876 (GRCm39) |
F76S |
probably damaging |
Het |
Bin1 |
G |
A |
18: 32,552,896 (GRCm39) |
A174T |
probably damaging |
Het |
Bnipl |
A |
C |
3: 95,157,551 (GRCm39) |
S23A |
probably benign |
Het |
Cd19 |
T |
C |
7: 126,011,303 (GRCm39) |
T294A |
probably benign |
Het |
Cdon |
G |
A |
9: 35,367,818 (GRCm39) |
V238I |
probably benign |
Het |
Chd3 |
A |
T |
11: 69,247,451 (GRCm39) |
D957E |
probably benign |
Het |
Crhbp |
T |
C |
13: 95,568,515 (GRCm39) |
Q307R |
probably damaging |
Het |
Cst3 |
A |
G |
2: 148,714,741 (GRCm39) |
M112T |
probably benign |
Het |
Dgkb |
A |
G |
12: 38,189,425 (GRCm39) |
E276G |
probably damaging |
Het |
Exoc4 |
T |
A |
6: 33,735,001 (GRCm39) |
N539K |
probably benign |
Het |
Gm3099 |
A |
G |
14: 15,345,429 (GRCm39) |
E85G |
probably benign |
Het |
Gpatch2 |
A |
G |
1: 186,957,698 (GRCm39) |
|
probably null |
Het |
Hs3st5 |
T |
A |
10: 36,704,776 (GRCm39) |
Y26* |
probably null |
Het |
Hspg2 |
A |
T |
4: 137,244,148 (GRCm39) |
D802V |
probably damaging |
Het |
Ifih1 |
A |
G |
2: 62,431,813 (GRCm39) |
V846A |
possibly damaging |
Het |
Lama4 |
T |
A |
10: 38,964,840 (GRCm39) |
S1402T |
probably benign |
Het |
Lrmda |
A |
G |
14: 22,648,388 (GRCm39) |
T73A |
unknown |
Het |
Lrrc1 |
A |
T |
9: 77,349,471 (GRCm39) |
V365E |
probably damaging |
Het |
Lrrc37a |
T |
A |
11: 103,393,868 (GRCm39) |
Q519L |
probably benign |
Het |
Mlc1 |
G |
T |
15: 88,862,107 (GRCm39) |
D36E |
probably benign |
Het |
Mrc2 |
A |
T |
11: 105,223,092 (GRCm39) |
D445V |
probably damaging |
Het |
Muc16 |
A |
G |
9: 18,550,760 (GRCm39) |
S5178P |
probably benign |
Het |
Nbea |
A |
G |
3: 55,573,110 (GRCm39) |
I2491T |
probably damaging |
Het |
Ncoa1 |
A |
G |
12: 4,389,044 (GRCm39) |
I77T |
probably damaging |
Het |
Npepps |
G |
T |
11: 97,109,474 (GRCm39) |
H701N |
probably damaging |
Het |
Or4n4b |
T |
G |
14: 50,536,041 (GRCm39) |
T242P |
probably damaging |
Het |
Or7g22 |
A |
T |
9: 19,048,831 (GRCm39) |
I181F |
possibly damaging |
Het |
Pclo |
T |
TTCTAG |
5: 14,764,209 (GRCm39) |
|
probably null |
Het |
Pclo |
GTCTAT |
GTCTATTCTAT |
5: 14,764,204 (GRCm39) |
|
probably null |
Het |
Pclo |
TCTAT |
TCTATACTAT |
5: 14,764,205 (GRCm39) |
|
probably null |
Het |
Pi4kb |
T |
C |
3: 94,906,387 (GRCm39) |
Y645H |
probably damaging |
Het |
Pik3r5 |
C |
T |
11: 68,383,528 (GRCm39) |
A449V |
possibly damaging |
Het |
Plat |
A |
G |
8: 23,261,736 (GRCm39) |
T45A |
probably benign |
Het |
Platr25 |
T |
C |
13: 62,848,676 (GRCm39) |
K62R |
possibly damaging |
Het |
Ppp5c |
A |
G |
7: 16,740,111 (GRCm39) |
V410A |
possibly damaging |
Het |
Prdm2 |
C |
T |
4: 142,861,140 (GRCm39) |
A717T |
probably benign |
Het |
Pstpip2 |
C |
A |
18: 77,882,422 (GRCm39) |
T2K |
probably benign |
Het |
Ptpn12 |
A |
C |
5: 21,203,523 (GRCm39) |
S418R |
possibly damaging |
Het |
Rint1 |
A |
G |
5: 24,010,642 (GRCm39) |
S255G |
probably benign |
Het |
Rmc1 |
T |
C |
18: 12,322,371 (GRCm39) |
L608P |
probably damaging |
Het |
Stab2 |
T |
C |
10: 86,714,776 (GRCm39) |
H1581R |
probably benign |
Het |
Stau2 |
T |
C |
1: 16,530,577 (GRCm39) |
Y114C |
unknown |
Het |
Ticam1 |
T |
C |
17: 56,578,067 (GRCm39) |
T343A |
probably benign |
Het |
Tmem131l |
T |
C |
3: 83,817,724 (GRCm39) |
K1259E |
possibly damaging |
Het |
Vmn2r103 |
T |
A |
17: 20,013,385 (GRCm39) |
F169I |
probably benign |
Het |
Vps33a |
T |
C |
5: 123,673,312 (GRCm39) |
K425E |
possibly damaging |
Het |
Vwa8 |
T |
C |
14: 79,258,089 (GRCm39) |
M746T |
probably benign |
Het |
Zc3hav1 |
A |
G |
6: 38,313,598 (GRCm39) |
I149T |
possibly damaging |
Het |
Zfp708 |
A |
T |
13: 67,222,193 (GRCm39) |
D62E |
probably benign |
Het |
|
Other mutations in Sltm |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00577:Sltm
|
APN |
9 |
70,486,624 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01755:Sltm
|
APN |
9 |
70,491,204 (GRCm39) |
splice site |
probably null |
|
IGL01782:Sltm
|
APN |
9 |
70,480,923 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02441:Sltm
|
APN |
9 |
70,494,467 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02831:Sltm
|
APN |
9 |
70,492,147 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02947:Sltm
|
APN |
9 |
70,498,946 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03166:Sltm
|
APN |
9 |
70,450,251 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0288:Sltm
|
UTSW |
9 |
70,486,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R0555:Sltm
|
UTSW |
9 |
70,493,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R0815:Sltm
|
UTSW |
9 |
70,469,190 (GRCm39) |
missense |
probably benign |
0.04 |
R0863:Sltm
|
UTSW |
9 |
70,469,190 (GRCm39) |
missense |
probably benign |
0.04 |
R1315:Sltm
|
UTSW |
9 |
70,450,347 (GRCm39) |
missense |
probably benign |
0.13 |
R1533:Sltm
|
UTSW |
9 |
70,493,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R1676:Sltm
|
UTSW |
9 |
70,480,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R1764:Sltm
|
UTSW |
9 |
70,469,082 (GRCm39) |
missense |
probably benign |
0.00 |
R1845:Sltm
|
UTSW |
9 |
70,450,314 (GRCm39) |
missense |
possibly damaging |
0.60 |
R2049:Sltm
|
UTSW |
9 |
70,488,583 (GRCm39) |
missense |
probably benign |
0.00 |
R2163:Sltm
|
UTSW |
9 |
70,498,964 (GRCm39) |
missense |
probably damaging |
0.99 |
R3410:Sltm
|
UTSW |
9 |
70,493,240 (GRCm39) |
missense |
probably damaging |
0.97 |
R4323:Sltm
|
UTSW |
9 |
70,487,529 (GRCm39) |
missense |
probably benign |
|
R4632:Sltm
|
UTSW |
9 |
70,486,651 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4748:Sltm
|
UTSW |
9 |
70,488,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R4756:Sltm
|
UTSW |
9 |
70,498,892 (GRCm39) |
missense |
possibly damaging |
0.57 |
R4782:Sltm
|
UTSW |
9 |
70,496,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R4799:Sltm
|
UTSW |
9 |
70,496,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R4887:Sltm
|
UTSW |
9 |
70,496,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R5221:Sltm
|
UTSW |
9 |
70,486,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R5263:Sltm
|
UTSW |
9 |
70,492,081 (GRCm39) |
missense |
unknown |
|
R5982:Sltm
|
UTSW |
9 |
70,494,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R6297:Sltm
|
UTSW |
9 |
70,488,641 (GRCm39) |
missense |
probably damaging |
0.99 |
R6456:Sltm
|
UTSW |
9 |
70,450,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R6658:Sltm
|
UTSW |
9 |
70,488,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R6720:Sltm
|
UTSW |
9 |
70,480,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R6770:Sltm
|
UTSW |
9 |
70,492,059 (GRCm39) |
missense |
unknown |
|
R6923:Sltm
|
UTSW |
9 |
70,481,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R7051:Sltm
|
UTSW |
9 |
70,466,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R7166:Sltm
|
UTSW |
9 |
70,492,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R7257:Sltm
|
UTSW |
9 |
70,451,247 (GRCm39) |
splice site |
probably null |
|
R7400:Sltm
|
UTSW |
9 |
70,493,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R7438:Sltm
|
UTSW |
9 |
70,480,748 (GRCm39) |
missense |
unknown |
|
R7484:Sltm
|
UTSW |
9 |
70,481,179 (GRCm39) |
missense |
unknown |
|
R7630:Sltm
|
UTSW |
9 |
70,493,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7631:Sltm
|
UTSW |
9 |
70,493,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7632:Sltm
|
UTSW |
9 |
70,493,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7633:Sltm
|
UTSW |
9 |
70,493,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7862:Sltm
|
UTSW |
9 |
70,479,446 (GRCm39) |
nonsense |
probably null |
|
R7886:Sltm
|
UTSW |
9 |
70,493,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7888:Sltm
|
UTSW |
9 |
70,493,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7889:Sltm
|
UTSW |
9 |
70,493,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7891:Sltm
|
UTSW |
9 |
70,493,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7915:Sltm
|
UTSW |
9 |
70,494,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R8030:Sltm
|
UTSW |
9 |
70,493,261 (GRCm39) |
nonsense |
probably null |
|
R8062:Sltm
|
UTSW |
9 |
70,480,779 (GRCm39) |
missense |
unknown |
|
R8099:Sltm
|
UTSW |
9 |
70,493,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R8374:Sltm
|
UTSW |
9 |
70,469,227 (GRCm39) |
missense |
probably null |
|
R8698:Sltm
|
UTSW |
9 |
70,494,352 (GRCm39) |
missense |
probably benign |
0.27 |
R9541:Sltm
|
UTSW |
9 |
70,481,057 (GRCm39) |
missense |
unknown |
|
R9563:Sltm
|
UTSW |
9 |
70,480,841 (GRCm39) |
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 |