Incidental Mutation 'R8099:Sltm'
| ID |
630407 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sltm
|
| Ensembl Gene |
ENSMUSG00000032212 |
| Gene Name |
SAFB-like, transcription modulator |
| Synonyms |
5730455C01Rik, 5730555F13Rik, 9130215G10Rik |
| MMRRC Submission |
067531-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R8099 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
70450036-70499516 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 70493360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 786
(S786T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049263]
[ENSMUST00000216816]
[ENSMUST00000217593]
|
| AlphaFold |
Q8CH25 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049263
AA Change: S786T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049112
Gene: ENSMUSG00000032212
AA Change: S786T
| 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: S768T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217593
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.1%
|
| Validation Efficiency |
97% (60/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
T |
C |
14: 70,394,969 (GRCm39) |
R62G |
probably benign |
Het |
| Abcb9 |
A |
G |
5: 124,215,308 (GRCm39) |
F478L |
probably benign |
Het |
| Abcc9 |
A |
T |
6: 142,621,257 (GRCm39) |
N494K |
probably damaging |
Het |
| Atp11a |
T |
G |
8: 12,911,973 (GRCm39) |
M124R |
|
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Ccdc110 |
T |
A |
8: 46,395,130 (GRCm39) |
H340Q |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,915,801 (GRCm39) |
L724P |
probably damaging |
Het |
| Cfap74 |
A |
G |
4: 155,539,489 (GRCm39) |
N938S |
unknown |
Het |
| Chil3 |
T |
G |
3: 106,055,984 (GRCm39) |
D363A |
probably damaging |
Het |
| Ciart |
G |
A |
3: 95,788,656 (GRCm39) |
P61L |
probably damaging |
Het |
| Cpne3 |
A |
G |
4: 19,525,169 (GRCm39) |
V442A |
possibly damaging |
Het |
| Ctsh |
T |
C |
9: 89,946,300 (GRCm39) |
V130A |
probably damaging |
Het |
| Cyp3a44 |
T |
C |
5: 145,725,212 (GRCm39) |
K330E |
probably benign |
Het |
| Dgcr2 |
A |
T |
16: 17,667,633 (GRCm39) |
D275E |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,024,321 (GRCm39) |
D919E |
probably benign |
Het |
| Ell3 |
TCTCCTC |
TCTC |
2: 121,269,937 (GRCm39) |
|
probably benign |
Het |
| Entrep3 |
T |
C |
3: 89,091,250 (GRCm39) |
F74L |
probably damaging |
Het |
| Epb41l3 |
T |
A |
17: 69,554,683 (GRCm39) |
F261Y |
possibly damaging |
Het |
| Fbxo3 |
A |
C |
2: 103,885,280 (GRCm39) |
H383P |
probably damaging |
Het |
| Foxp1 |
C |
T |
6: 98,922,510 (GRCm39) |
V441M |
unknown |
Het |
| Gm29106 |
C |
T |
1: 118,126,521 (GRCm39) |
S71F |
probably benign |
Het |
| Golga3 |
T |
A |
5: 110,336,573 (GRCm39) |
L364* |
probably null |
Het |
| H1f1 |
C |
T |
13: 23,947,832 (GRCm39) |
L45F |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,279,422 (GRCm39) |
L110H |
probably damaging |
Het |
| Igkv4-53 |
A |
T |
6: 69,625,898 (GRCm39) |
S90T |
possibly damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,571 (GRCm39) |
G162W |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,667,120 (GRCm39) |
I763N |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,369,922 (GRCm39) |
I1613K |
probably benign |
Het |
| Mkrn1 |
T |
C |
6: 39,387,031 (GRCm39) |
D102G |
probably benign |
Het |
| Muc2 |
T |
A |
7: 141,299,175 (GRCm39) |
|
probably null |
Het |
| Nipal4 |
T |
C |
11: 46,052,848 (GRCm39) |
E39G |
probably benign |
Het |
| Nr1h2 |
T |
C |
7: 44,199,746 (GRCm39) |
Y391C |
possibly damaging |
Het |
| Odam |
T |
C |
5: 88,040,299 (GRCm39) |
I255T |
possibly damaging |
Het |
| Or11m3 |
A |
G |
15: 98,395,694 (GRCm39) |
M114V |
probably benign |
Het |
| Or6c35 |
T |
A |
10: 129,168,996 (GRCm39) |
I82K |
probably damaging |
Het |
| Or9m1 |
T |
A |
2: 87,733,852 (GRCm39) |
H56L |
probably damaging |
Het |
| Per3 |
A |
T |
4: 151,097,014 (GRCm39) |
M837K |
possibly damaging |
Het |
| Pitpnm3 |
T |
A |
11: 71,961,144 (GRCm39) |
H357L |
possibly damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
T |
C |
2: 135,093,654 (GRCm39) |
Y156H |
possibly damaging |
Het |
| Ppm1d |
C |
T |
11: 85,230,492 (GRCm39) |
P370L |
possibly damaging |
Het |
| Prrc2b |
T |
C |
2: 32,098,686 (GRCm39) |
V666A |
probably benign |
Het |
| Ptpn3 |
A |
T |
4: 57,204,985 (GRCm39) |
C725* |
probably null |
Het |
| Rapgefl1 |
T |
C |
11: 98,738,209 (GRCm39) |
W437R |
probably damaging |
Het |
| Sema4g |
T |
C |
19: 44,980,967 (GRCm39) |
L5P |
probably damaging |
Het |
| Sipa1l1 |
C |
T |
12: 82,480,600 (GRCm39) |
P1529L |
probably benign |
Het |
| Slc12a2 |
T |
C |
18: 58,032,464 (GRCm39) |
L388P |
probably damaging |
Het |
| Srsf1 |
T |
C |
11: 87,940,082 (GRCm39) |
I198T |
probably benign |
Het |
| Ssh2 |
C |
T |
11: 77,345,755 (GRCm39) |
R1247* |
probably null |
Het |
| Ssu2 |
T |
C |
6: 112,353,438 (GRCm39) |
T229A |
probably benign |
Het |
| Stra6 |
T |
A |
9: 58,059,777 (GRCm39) |
H579Q |
probably damaging |
Het |
| Tanc2 |
T |
A |
11: 105,754,833 (GRCm39) |
V559E |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,030,230 (GRCm39) |
Y1762H |
probably damaging |
Het |
| Usp15 |
T |
C |
10: 122,982,826 (GRCm39) |
Y263C |
possibly damaging |
Het |
| Usp17ld |
A |
T |
7: 102,899,495 (GRCm39) |
V479E |
probably damaging |
Het |
| Vmn2r15 |
A |
T |
5: 109,441,185 (GRCm39) |
S224R |
possibly damaging |
Het |
| Vmn2r8 |
A |
T |
5: 108,949,700 (GRCm39) |
N382K |
probably benign |
Het |
| Vmn2r94 |
T |
C |
17: 18,477,659 (GRCm39) |
I251V |
probably benign |
Het |
| Wnt2b |
A |
T |
3: 104,854,408 (GRCm39) |
V350D |
possibly damaging |
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 |
|
|
R7885:Sltm
|
UTSW |
9 |
70,493,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
|
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'- ATCCAAAAGAACGCTGTTTGG -3'
(R):5'- TTCCAGTTGAAGGTAAGAAGACCAC -3'
Sequencing Primer
(F):5'- CAAAAGAACGCTGTTTGGTAATTATC -3'
(R):5'- TTGAAGGTAAGAAGACCACAGCACTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation