Incidental Mutation 'R7862:Sltm'
| ID |
607583 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sltm
|
| Ensembl Gene |
ENSMUSG00000032212 |
| Gene Name |
SAFB-like, transcription modulator |
| Synonyms |
5730455C01Rik, 5730555F13Rik, 9130215G10Rik |
| MMRRC Submission |
045915-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R7862 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
70450036-70499516 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 70479446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 193
(E193*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049263]
[ENSMUST00000213808]
[ENSMUST00000216816]
[ENSMUST00000217593]
|
| AlphaFold |
Q8CH25 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000049263
AA Change: E193*
|
| SMART Domains |
Protein: ENSMUSP00000049112
Gene: ENSMUSG00000032212
AA Change: E193*
| 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 |
probably null
Transcript: ENSMUST00000216816
AA Change: E193*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000217593
AA Change: E193*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
A |
C |
3: 145,649,624 (GRCm39) |
*181S |
probably null |
Het |
| Abcc10 |
G |
T |
17: 46,626,458 (GRCm39) |
S661* |
probably null |
Het |
| Abtb2 |
C |
T |
2: 103,532,626 (GRCm39) |
R475W |
probably damaging |
Het |
| Cep97 |
T |
C |
16: 55,726,084 (GRCm39) |
D673G |
probably benign |
Het |
| Chaf1b |
T |
C |
16: 93,684,983 (GRCm39) |
M144T |
possibly damaging |
Het |
| Chd8 |
T |
C |
14: 52,451,734 (GRCm39) |
D1372G |
probably damaging |
Het |
| Chmp6 |
G |
A |
11: 119,807,836 (GRCm39) |
|
probably null |
Het |
| Cst12 |
T |
C |
2: 148,631,495 (GRCm39) |
V72A |
probably damaging |
Het |
| D1Pas1 |
G |
A |
1: 186,700,349 (GRCm39) |
G93R |
probably damaging |
Het |
| Dhx34 |
C |
A |
7: 15,944,448 (GRCm39) |
V589F |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,295,280 (GRCm39) |
P80L |
probably damaging |
Het |
| Dmrta1 |
C |
A |
4: 89,576,561 (GRCm39) |
H6N |
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,546,851 (GRCm39) |
L285P |
probably damaging |
Het |
| Dpy19l1 |
T |
C |
9: 24,386,730 (GRCm39) |
Y188C |
probably damaging |
Het |
| Ehbp1l1 |
C |
T |
19: 5,770,851 (GRCm39) |
R230Q |
probably benign |
Het |
| Ep300 |
T |
G |
15: 81,534,954 (GRCm39) |
V2337G |
probably damaging |
Het |
| Fh1 |
A |
T |
1: 175,442,400 (GRCm39) |
V150E |
probably damaging |
Het |
| Fkbp11 |
G |
A |
15: 98,624,389 (GRCm39) |
R122* |
probably null |
Het |
| Fkbp5 |
C |
T |
17: 28,631,013 (GRCm39) |
E251K |
probably damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,071,756 (GRCm39) |
K88E |
probably damaging |
Het |
| Frrs1 |
T |
C |
3: 116,685,529 (GRCm39) |
V300A |
possibly damaging |
Het |
| Glud1 |
T |
G |
14: 34,047,479 (GRCm39) |
L198V |
possibly damaging |
Het |
| Gsdmc |
A |
T |
15: 63,649,845 (GRCm39) |
W349R |
possibly damaging |
Het |
| Hacd1 |
T |
C |
2: 14,050,013 (GRCm39) |
H64R |
probably damaging |
Het |
| Haus2 |
T |
A |
2: 120,443,570 (GRCm39) |
D75E |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,682,172 (GRCm39) |
F459L |
probably damaging |
Het |
| Ighe |
A |
T |
12: 113,235,428 (GRCm39) |
V272E |
|
Het |
| Iqgap1 |
C |
T |
7: 80,393,636 (GRCm39) |
R647H |
probably benign |
Het |
| Jmy |
T |
C |
13: 93,635,703 (GRCm39) |
I38V |
possibly damaging |
Het |
| Kcnh1 |
G |
T |
1: 191,873,167 (GRCm39) |
|
probably benign |
Het |
| Kctd20 |
C |
T |
17: 29,181,849 (GRCm39) |
A167V |
probably damaging |
Het |
| Klhl38 |
A |
T |
15: 58,178,395 (GRCm39) |
V525E |
probably damaging |
Het |
| Krit1 |
A |
G |
5: 3,862,788 (GRCm39) |
D259G |
probably damaging |
Het |
| Med1 |
A |
T |
11: 98,052,036 (GRCm39) |
C443S |
probably benign |
Het |
| Mllt6 |
T |
C |
11: 97,556,631 (GRCm39) |
V107A |
probably benign |
Het |
| Myl7 |
A |
G |
11: 5,847,157 (GRCm39) |
M132T |
probably benign |
Het |
| Myo10 |
T |
C |
15: 25,666,522 (GRCm39) |
V11A |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,355,236 (GRCm39) |
I1642V |
probably benign |
Het |
| Or4a47 |
T |
C |
2: 89,665,468 (GRCm39) |
T274A |
probably benign |
Het |
| Or6c214 |
T |
C |
10: 129,591,224 (GRCm39) |
T32A |
probably benign |
Het |
| Or7g25 |
C |
A |
9: 19,160,736 (GRCm39) |
|
probably benign |
Het |
| Or8b3b |
C |
T |
9: 38,584,624 (GRCm39) |
V39M |
probably benign |
Het |
| Pcdhb2 |
C |
T |
18: 37,429,113 (GRCm39) |
A362V |
probably benign |
Het |
| Pnp2 |
A |
T |
14: 51,201,016 (GRCm39) |
D167V |
possibly damaging |
Het |
| Rasa1 |
G |
A |
13: 85,403,530 (GRCm39) |
T282I |
probably damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,265,476 (GRCm39) |
D354G |
probably damaging |
Het |
| Rpap1 |
C |
T |
2: 119,605,893 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
| Shank3 |
A |
G |
15: 89,389,648 (GRCm39) |
D415G |
possibly damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,003,014 (GRCm39) |
I182V |
probably damaging |
Het |
| Slc6a13 |
A |
G |
6: 121,312,589 (GRCm39) |
Y441C |
probably damaging |
Het |
| Spag9 |
T |
C |
11: 94,002,892 (GRCm39) |
I1134T |
possibly damaging |
Het |
| Spta1 |
G |
A |
1: 174,025,351 (GRCm39) |
|
probably null |
Het |
| Stk3 |
A |
G |
15: 35,115,732 (GRCm39) |
V29A |
possibly damaging |
Het |
| Tgfbr1 |
A |
T |
4: 47,403,489 (GRCm39) |
I365F |
probably damaging |
Het |
| Thpo |
C |
T |
16: 20,547,540 (GRCm39) |
V24I |
probably benign |
Het |
| Tle1 |
A |
C |
4: 72,117,552 (GRCm39) |
L36R |
probably damaging |
Het |
| Togaram2 |
T |
C |
17: 71,996,168 (GRCm39) |
V57A |
probably benign |
Het |
| Ttll9 |
C |
T |
2: 152,848,895 (GRCm39) |
A459V |
probably benign |
Het |
| Ush1c |
T |
C |
7: 45,870,848 (GRCm39) |
I330V |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,414,718 (GRCm39) |
M2906T |
|
Het |
| Vmn2r28 |
A |
T |
7: 5,493,613 (GRCm39) |
M111K |
probably benign |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,416 (GRCm39) |
C557R |
probably damaging |
Het |
| Zfp873 |
T |
A |
10: 81,896,109 (GRCm39) |
I280K |
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 |
|
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 |
|
|
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'- TCCGTAGTTCTAAATGGGTCTG -3'
(R):5'- ACACGAAATCTACTTACCGTATGC -3'
Sequencing Primer
(F):5'- AAATGGGTCTGAGTTTTGATTGGAAC -3'
(R):5'- ATAGGGTATAACTTGTGCTCAAAAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation