Incidental Mutation 'R7891:Sltm'
| ID |
609341 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sltm
|
| Ensembl Gene |
ENSMUSG00000032212 |
| Gene Name |
SAFB-like, transcription modulator |
| Synonyms |
5730455C01Rik, 5730555F13Rik, 9130215G10Rik |
| MMRRC Submission |
045943-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R7891 (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: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025C18Rik |
T |
G |
2: 164,920,864 (GRCm39) |
E56D |
unknown |
Het |
| 9930111J21Rik2 |
T |
C |
11: 48,910,543 (GRCm39) |
Q630R |
probably benign |
Het |
| Abca9 |
A |
G |
11: 110,054,098 (GRCm39) |
V68A |
probably benign |
Het |
| Acnat1 |
G |
A |
4: 49,449,181 (GRCm39) |
A195V |
possibly damaging |
Het |
| Acsl3 |
C |
T |
1: 78,681,305 (GRCm39) |
A612V |
probably benign |
Het |
| Adam12 |
A |
T |
7: 133,599,961 (GRCm39) |
D115E |
probably benign |
Het |
| Adam3 |
T |
A |
8: 25,197,513 (GRCm39) |
|
probably null |
Het |
| Aif1 |
G |
A |
17: 35,391,600 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,824,139 (GRCm39) |
D154G |
probably damaging |
Het |
| Arid3b |
A |
G |
9: 57,717,442 (GRCm39) |
C233R |
probably benign |
Het |
| Ccdc7b |
T |
A |
8: 129,799,146 (GRCm39) |
D74E |
unknown |
Het |
| Cckbr |
T |
A |
7: 105,084,557 (GRCm39) |
D430E |
probably benign |
Het |
| Chpf |
T |
C |
1: 75,451,939 (GRCm39) |
H667R |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,931,263 (GRCm39) |
E1426G |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,609,590 (GRCm39) |
I2791V |
probably benign |
Het |
| Ehd3 |
A |
G |
17: 74,123,387 (GRCm39) |
N130S |
probably benign |
Het |
| Fgfr4 |
A |
G |
13: 55,306,964 (GRCm39) |
T218A |
probably benign |
Het |
| Foxe1 |
G |
A |
4: 46,344,599 (GRCm39) |
E136K |
possibly damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,284,478 (GRCm39) |
S1100G |
probably benign |
Het |
| Gask1b |
G |
A |
3: 79,793,591 (GRCm39) |
A20T |
probably benign |
Het |
| Gm21886 |
T |
G |
18: 80,132,972 (GRCm39) |
Q62P |
probably null |
Het |
| Golga4 |
A |
G |
9: 118,385,434 (GRCm39) |
E852G |
probably damaging |
Het |
| Gprin3 |
T |
C |
6: 59,330,696 (GRCm39) |
D537G |
probably benign |
Het |
| Gpx5 |
C |
A |
13: 21,472,918 (GRCm39) |
D139Y |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,468,940 (GRCm39) |
Y5007C |
probably damaging |
Het |
| Igsf10 |
G |
A |
3: 59,235,832 (GRCm39) |
R1450* |
probably null |
Het |
| Kif21a |
G |
A |
15: 90,840,517 (GRCm39) |
P1200S |
probably damaging |
Het |
| Kmt2c |
G |
A |
5: 25,505,109 (GRCm39) |
R3400C |
probably damaging |
Het |
| Miox |
A |
C |
15: 89,220,742 (GRCm39) |
M216L |
probably benign |
Het |
| Mphosph9 |
T |
C |
5: 124,428,967 (GRCm39) |
Y687C |
probably damaging |
Het |
| Mxi1 |
T |
A |
19: 53,299,192 (GRCm39) |
V21D |
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,299,591 (GRCm39) |
L1309P |
probably benign |
Het |
| Onecut2 |
T |
A |
18: 64,474,046 (GRCm39) |
M180K |
possibly damaging |
Het |
| Or10ag54 |
A |
T |
2: 87,099,421 (GRCm39) |
T99S |
possibly damaging |
Het |
| Or13c25 |
C |
T |
4: 52,911,663 (GRCm39) |
V44I |
probably benign |
Het |
| Or4c100 |
G |
A |
2: 88,356,289 (GRCm39) |
V121I |
probably benign |
Het |
| Or7g22 |
T |
C |
9: 19,049,141 (GRCm39) |
M284T |
possibly damaging |
Het |
| Polq |
A |
G |
16: 36,848,244 (GRCm39) |
T284A |
probably damaging |
Het |
| Polrmt |
A |
T |
10: 79,577,714 (GRCm39) |
M295K |
probably damaging |
Het |
| Pou2af1 |
G |
T |
9: 51,144,297 (GRCm39) |
M70I |
probably damaging |
Het |
| Pou3f1 |
G |
A |
4: 124,552,232 (GRCm39) |
E245K |
probably damaging |
Het |
| Psmb1 |
C |
T |
17: 15,714,748 (GRCm39) |
V50I |
probably benign |
Het |
| Ptgis |
T |
C |
2: 167,069,434 (GRCm39) |
D50G |
probably damaging |
Het |
| R3hdm2 |
A |
G |
10: 127,334,443 (GRCm39) |
I955M |
probably benign |
Het |
| Rasef |
G |
A |
4: 73,677,935 (GRCm39) |
T97I |
probably benign |
Het |
| Rasef |
T |
C |
4: 73,709,201 (GRCm39) |
T11A |
probably benign |
Het |
| Sema4c |
C |
A |
1: 36,588,995 (GRCm39) |
L710F |
probably damaging |
Het |
| Slc39a10 |
C |
T |
1: 46,851,328 (GRCm39) |
A721T |
probably damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,848,139 (GRCm39) |
C1330R |
possibly damaging |
Het |
| Susd1 |
T |
C |
4: 59,349,915 (GRCm39) |
D560G |
possibly damaging |
Het |
| Tnfrsf1b |
T |
C |
4: 144,955,660 (GRCm39) |
Y32C |
probably damaging |
Het |
| Trhr2 |
C |
A |
8: 123,084,083 (GRCm39) |
V306F |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,754,074 (GRCm39) |
Q35L |
probably benign |
Het |
| Ttbk2 |
A |
G |
2: 120,616,510 (GRCm39) |
S197P |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,280,059 (GRCm39) |
E806D |
probably benign |
Het |
| Ushbp1 |
T |
G |
8: 71,841,422 (GRCm39) |
Q469P |
possibly damaging |
Het |
| Vmn1r73 |
G |
A |
7: 11,491,036 (GRCm39) |
V285I |
possibly damaging |
Het |
| Zfp934 |
A |
C |
13: 62,668,003 (GRCm39) |
S63R |
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 |
|
|
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 |
|
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'- CAGTAATGAGGGCTTTTCTGGC -3'
(R):5'- TCTAGAAGGATTGGGCACAGTC -3'
Sequencing Primer
(F):5'- GCAGCCTTGCCATAATTTCC -3'
(R):5'- AAGGATTGGGCACAGTCTCTCG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation