Incidental Mutation 'R7886:Sltm'
| ID |
609067 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sltm
|
| Ensembl Gene |
ENSMUSG00000032212 |
| Gene Name |
SAFB-like, transcription modulator |
| Synonyms |
9130215G10Rik, 5730555F13Rik, 5730455C01Rik |
| MMRRC Submission |
045938-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
R7886 (G1)
|
| Quality Score |
225.009 |
|
Status
|
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: 98.9%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
T |
G |
6: 92,834,456 (GRCm38) |
I130S |
unknown |
Het |
| Ano5 |
A |
G |
7: 51,570,393 (GRCm38) |
H427R |
probably benign |
Het |
| Atad2 |
A |
T |
15: 58,126,136 (GRCm38) |
V182E |
probably damaging |
Het |
| B4galnt1 |
T |
C |
10: 127,167,054 (GRCm38) |
Y147H |
probably damaging |
Het |
| C1s2 |
T |
C |
6: 124,628,330 (GRCm38) |
S349G |
possibly damaging |
Het |
| Ccdc51 |
G |
T |
9: 109,091,587 (GRCm38) |
A181S |
probably damaging |
Het |
| Dcc |
G |
A |
18: 71,954,868 (GRCm38) |
Q100* |
probably null |
Het |
| Dchs2 |
A |
T |
3: 83,305,085 (GRCm38) |
I2064F |
probably damaging |
Het |
| Depdc1a |
G |
A |
3: 159,516,069 (GRCm38) |
V217I |
probably benign |
Het |
| Dnajc7 |
A |
T |
11: 100,601,803 (GRCm38) |
F31I |
probably benign |
Het |
| Eftud2 |
C |
T |
11: 102,840,108 (GRCm38) |
R825H |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,675,160 (GRCm38) |
E237G |
probably damaging |
Het |
| Fdx1l |
A |
T |
9: 21,073,327 (GRCm38) |
|
probably null |
Het |
| Frem1 |
T |
C |
4: 83,016,406 (GRCm38) |
D106G |
possibly damaging |
Het |
| Gabrg3 |
G |
A |
7: 56,724,481 (GRCm38) |
R446W |
probably damaging |
Het |
| Gm42669 |
A |
G |
5: 107,508,706 (GRCm38) |
E362G |
|
Het |
| Hmcn1 |
A |
T |
1: 150,657,470 (GRCm38) |
I3022N |
possibly damaging |
Het |
| Ifna2 |
C |
A |
4: 88,683,269 (GRCm38) |
V171F |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,328,327 (GRCm38) |
N1478D |
probably benign |
Het |
| Kcnc1 |
C |
A |
7: 46,427,621 (GRCm38) |
D282E |
probably damaging |
Het |
| Klhdc2 |
G |
A |
12: 69,304,632 (GRCm38) |
|
probably null |
Het |
| Macrod2 |
G |
A |
2: 141,724,645 (GRCm38) |
G188S |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 120,012,647 (GRCm38) |
F186L |
possibly damaging |
Het |
| Mettl21a |
T |
C |
1: 64,615,184 (GRCm38) |
E58G |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,585,982 (GRCm38) |
C6625S |
probably benign |
Het |
| Naip5 |
A |
T |
13: 100,246,181 (GRCm38) |
S7T |
probably benign |
Het |
| Nfs1 |
T |
A |
2: 156,142,061 (GRCm38) |
D132V |
unknown |
Het |
| Nlgn1 |
T |
C |
3: 25,435,907 (GRCm38) |
D552G |
probably damaging |
Het |
| Numa1 |
C |
T |
7: 102,013,865 (GRCm38) |
T2066I |
probably benign |
Het |
| Olfr1355 |
A |
G |
10: 78,879,823 (GRCm38) |
Y217C |
possibly damaging |
Het |
| Olfr330 |
C |
A |
11: 58,529,054 (GRCm38) |
V311L |
probably benign |
Het |
| Olfr370 |
T |
C |
8: 83,541,947 (GRCm38) |
S268P |
possibly damaging |
Het |
| Olfr730 |
A |
T |
14: 50,186,564 (GRCm38) |
Y219N |
probably damaging |
Het |
| Olfr847 |
A |
T |
9: 19,375,906 (GRCm38) |
|
probably null |
Het |
| Pde11a |
C |
T |
2: 76,291,203 (GRCm38) |
V345I |
probably benign |
Het |
| Pglyrp2 |
A |
G |
17: 32,418,761 (GRCm38) |
S98P |
possibly damaging |
Het |
| Pik3c3 |
C |
T |
18: 30,319,588 (GRCm38) |
Q643* |
probably null |
Het |
| Pold2 |
T |
C |
11: 5,872,714 (GRCm38) |
Y402C |
probably damaging |
Het |
| Pom121 |
T |
C |
5: 135,381,994 (GRCm38) |
T770A |
unknown |
Het |
| Pou4f1 |
A |
T |
14: 104,466,792 (GRCm38) |
V68E |
probably damaging |
Het |
| Ppfia1 |
G |
T |
7: 144,519,283 (GRCm38) |
Q265K |
probably benign |
Het |
| Pygl |
A |
G |
12: 70,206,356 (GRCm38) |
|
probably null |
Het |
| Rdh19 |
A |
G |
10: 127,850,300 (GRCm38) |
T94A |
probably benign |
Het |
| Scgb1b12 |
A |
G |
7: 32,334,497 (GRCm38) |
T61A |
probably damaging |
Het |
| Sirpb1c |
C |
T |
3: 15,832,202 (GRCm38) |
A337T |
probably benign |
Het |
| Tbc1d23 |
T |
C |
16: 57,189,383 (GRCm38) |
E381G |
possibly damaging |
Het |
| Tnik |
A |
G |
3: 28,666,139 (GRCm38) |
I1304V |
probably damaging |
Het |
| Tpmt |
C |
A |
13: 47,040,162 (GRCm38) |
G54C |
probably damaging |
Het |
| Usp25 |
A |
T |
16: 77,113,771 (GRCm38) |
Q905L |
probably damaging |
Het |
| Vmn1r91 |
T |
A |
7: 20,101,565 (GRCm38) |
N136K |
probably benign |
Het |
| Wdr70 |
C |
T |
15: 8,079,249 (GRCm38) |
E138K |
probably benign |
Het |
| Wrb |
T |
A |
16: 96,145,568 (GRCm38) |
L31Q |
possibly damaging |
Het |
| Zbed3 |
A |
G |
13: 95,336,125 (GRCm38) |
D19G |
possibly damaging |
Het |
| Zfp369 |
A |
G |
13: 65,292,054 (GRCm38) |
K184R |
possibly damaging |
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 |
|
|
R7885: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'- ATTGCAGTAATGAGGGCTTTTC -3'
(R):5'- GAAGGATTGGGCACAGTCTC -3'
Sequencing Primer
(F):5'- AATGAGGGCTTTTCTGGCAGC -3'
(R):5'- ATTGGGCACAGTCTCTCGAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation