Incidental Mutation 'R6720:Sltm'
| ID |
529545 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sltm
|
| Ensembl Gene |
ENSMUSG00000032212 |
| Gene Name |
SAFB-like, transcription modulator |
| Synonyms |
9130215G10Rik, 5730555F13Rik, 5730455C01Rik |
| MMRRC Submission |
044838-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
R6720 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
70542754-70592234 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 70573710 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 281
(D281E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150324
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049263]
[ENSMUST00000213808]
[ENSMUST00000216816]
[ENSMUST00000217593]
|
| AlphaFold |
Q8CH25 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000049263
AA Change: D281E
|
| SMART Domains |
Protein: ENSMUSP00000049112
Gene: ENSMUSG00000032212
AA Change: D281E
| 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 benign
Transcript: ENSMUST00000213808
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214834
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000216816
AA Change: D263E
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217593
AA Change: D281E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.0728 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.6%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
G |
A |
4: 137,454,686 (GRCm38) |
E51K |
possibly damaging |
Het |
| Abca1 |
A |
C |
4: 53,083,733 (GRCm38) |
L700R |
probably damaging |
Het |
| Arpc1a |
C |
A |
5: 145,101,222 (GRCm38) |
|
probably null |
Het |
| Baz2b |
G |
T |
2: 59,924,890 (GRCm38) |
P241Q |
probably damaging |
Het |
| Cd6 |
T |
A |
19: 10,794,609 (GRCm38) |
T414S |
probably benign |
Het |
| Ces2b |
A |
T |
8: 104,836,869 (GRCm38) |
E409D |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,821,119 (GRCm38) |
Y3024H |
probably benign |
Het |
| Chrm1 |
A |
G |
19: 8,678,548 (GRCm38) |
T206A |
probably benign |
Het |
| Clptm1l |
T |
C |
13: 73,618,516 (GRCm38) |
W512R |
probably damaging |
Het |
| Col15a1 |
T |
A |
4: 47,247,552 (GRCm38) |
|
probably null |
Het |
| Cox15 |
A |
G |
19: 43,736,789 (GRCm38) |
S392P |
probably damaging |
Het |
| Cr2 |
T |
C |
1: 195,155,200 (GRCm38) |
M1197V |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,000,689 (GRCm38) |
K1281E |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,045,646 (GRCm38) |
F2094L |
probably damaging |
Het |
| Ear2 |
T |
A |
14: 44,102,959 (GRCm38) |
C25S |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,140,264 (GRCm38) |
D802G |
probably damaging |
Het |
| Eftud2 |
G |
A |
11: 102,838,623 (GRCm38) |
Q84* |
probably null |
Het |
| Eif4g3 |
T |
A |
4: 138,175,832 (GRCm38) |
|
probably null |
Het |
| Ephb2 |
T |
C |
4: 136,657,502 (GRCm38) |
D866G |
probably damaging |
Het |
| Fam129b |
T |
A |
2: 32,905,826 (GRCm38) |
V22D |
probably damaging |
Het |
| Farsb |
A |
G |
1: 78,472,497 (GRCm38) |
M99T |
probably damaging |
Het |
| Foxs1 |
T |
A |
2: 152,932,720 (GRCm38) |
S138C |
probably damaging |
Het |
| Frem1 |
T |
G |
4: 83,013,832 (GRCm38) |
S211R |
probably damaging |
Het |
| Gm19410 |
G |
A |
8: 35,807,576 (GRCm38) |
R1517Q |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,802,304 (GRCm38) |
I27M |
probably benign |
Het |
| H2-Q7 |
A |
G |
17: 35,442,678 (GRCm38) |
E299G |
probably benign |
Het |
| Hao2 |
T |
G |
3: 98,877,135 (GRCm38) |
I305L |
probably benign |
Het |
| Hectd4 |
C |
T |
5: 121,307,381 (GRCm38) |
Q122* |
probably null |
Het |
| Hivep1 |
T |
A |
13: 42,164,284 (GRCm38) |
C2079S |
probably damaging |
Het |
| Hoxb1 |
C |
A |
11: 96,366,987 (GRCm38) |
Q248K |
probably damaging |
Het |
| Hspb6 |
A |
G |
7: 30,554,347 (GRCm38) |
D95G |
probably benign |
Het |
| Ighv5-2 |
T |
A |
12: 113,578,506 (GRCm38) |
R117S |
probably damaging |
Het |
| Ino80d |
A |
C |
1: 63,058,610 (GRCm38) |
S708R |
probably damaging |
Het |
| Lman1l |
A |
G |
9: 57,614,072 (GRCm38) |
|
probably null |
Het |
| Mmp15 |
A |
G |
8: 95,365,314 (GRCm38) |
N51D |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,423,077 (GRCm38) |
M1140V |
probably benign |
Het |
| Olfr1053 |
A |
G |
2: 86,315,065 (GRCm38) |
S74P |
probably damaging |
Het |
| Olfr1373 |
A |
G |
11: 52,144,693 (GRCm38) |
V279A |
probably benign |
Het |
| Olfr397 |
A |
G |
11: 73,965,465 (GRCm38) |
N286D |
probably damaging |
Het |
| Olfr890 |
T |
A |
9: 38,143,153 (GRCm38) |
M1K |
probably null |
Het |
| Pard3b |
A |
T |
1: 62,159,470 (GRCm38) |
N239I |
probably damaging |
Het |
| Parvb |
C |
T |
15: 84,297,979 (GRCm38) |
R237W |
probably damaging |
Het |
| Pcdha9 |
T |
C |
18: 36,998,069 (GRCm38) |
S64P |
probably damaging |
Het |
| Pdcd1 |
T |
C |
1: 94,041,389 (GRCm38) |
N68S |
probably benign |
Het |
| Pi4ka |
G |
T |
16: 17,326,052 (GRCm38) |
|
probably null |
Het |
| Plekha4 |
A |
T |
7: 45,540,886 (GRCm38) |
D359V |
possibly damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,994,062 (GRCm38) |
I78V |
probably benign |
Het |
| Slc39a7 |
T |
A |
17: 34,030,108 (GRCm38) |
T269S |
probably benign |
Het |
| Zfp708 |
T |
C |
13: 67,071,432 (GRCm38) |
Y76C |
probably damaging |
Het |
| Zfp990 |
T |
A |
4: 145,536,927 (GRCm38) |
V165D |
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 |
|
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 |
|
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'- TTCAGAAGGGAGCCTAGCTGAG -3'
(R):5'- TCTTTGCTTGACCAGAGGC -3'
Sequencing Primer
(F):5'- GCTGAGGCTGATCACACAG -3'
(R):5'- TAGACGAGGGCCCTTTCTTCAAAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation