Incidental Mutation 'R5221:Sltm'
| ID |
402328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sltm
|
| Ensembl Gene |
ENSMUSG00000032212 |
| Gene Name |
SAFB-like, transcription modulator |
| Synonyms |
5730455C01Rik, 5730555F13Rik, 9130215G10Rik |
| MMRRC Submission |
042794-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R5221 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
70450036-70499516 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 70486685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 450
(L450R)
|
| 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: L450R
|
| SMART Domains |
Protein: ENSMUSP00000049112
Gene: ENSMUSG00000032212
AA Change: L450R
| 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: L432R
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216881
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217593
AA Change: L450R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.9250 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (53/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrm1b |
T |
C |
3: 92,335,815 (GRCm39) |
I296V |
probably benign |
Het |
| Antkmt |
T |
C |
17: 26,010,613 (GRCm39) |
N67S |
possibly damaging |
Het |
| Arhgap26 |
T |
A |
18: 39,243,525 (GRCm39) |
Y134* |
probably null |
Het |
| Asap2 |
A |
G |
12: 21,263,191 (GRCm39) |
I269V |
probably benign |
Het |
| Bean1 |
A |
T |
8: 104,941,784 (GRCm39) |
D34V |
probably damaging |
Het |
| C8a |
C |
T |
4: 104,703,122 (GRCm39) |
V312M |
probably damaging |
Het |
| Ccser1 |
T |
C |
6: 61,289,075 (GRCm39) |
S413P |
probably damaging |
Het |
| Col4a2 |
A |
G |
8: 11,498,225 (GRCm39) |
N1678S |
probably benign |
Het |
| Coq2 |
G |
A |
5: 100,805,698 (GRCm39) |
H313Y |
possibly damaging |
Het |
| Dsg1a |
T |
A |
18: 20,457,071 (GRCm39) |
M148K |
possibly damaging |
Het |
| Farp2 |
T |
A |
1: 93,504,140 (GRCm39) |
C306S |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,493,032 (GRCm39) |
V1828A |
probably damaging |
Het |
| Gm6457 |
T |
C |
18: 14,703,174 (GRCm39) |
|
noncoding transcript |
Het |
| Gmip |
T |
G |
8: 70,266,785 (GRCm39) |
V300G |
probably damaging |
Het |
| Gstp3 |
A |
G |
19: 4,107,607 (GRCm39) |
S186P |
probably damaging |
Het |
| Gvin-ps3 |
G |
C |
7: 105,683,181 (GRCm39) |
|
noncoding transcript |
Het |
| Kl |
G |
T |
5: 150,912,616 (GRCm39) |
L788F |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lrp1b |
A |
C |
2: 41,002,994 (GRCm39) |
S1932A |
possibly damaging |
Het |
| Lrrc36 |
A |
G |
8: 106,170,488 (GRCm39) |
T234A |
probably damaging |
Het |
| Mafa |
T |
A |
15: 75,618,891 (GRCm39) |
Q294L |
possibly damaging |
Het |
| Mesp2 |
C |
T |
7: 79,461,467 (GRCm39) |
T264I |
possibly damaging |
Het |
| Mindy4 |
A |
G |
6: 55,201,092 (GRCm39) |
Y259C |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2d3c |
A |
T |
7: 106,526,268 (GRCm39) |
S133T |
probably benign |
Het |
| Or5as1 |
T |
C |
2: 86,980,825 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or5m13b |
A |
G |
2: 85,754,493 (GRCm39) |
N294D |
probably damaging |
Het |
| Or8b48 |
A |
T |
9: 38,493,148 (GRCm39) |
T192S |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,741,193 (GRCm39) |
|
probably null |
Het |
| Plxna1 |
T |
C |
6: 89,297,998 (GRCm39) |
D1760G |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,862,540 (GRCm39) |
D345E |
probably damaging |
Het |
| Ppp1r14a |
T |
A |
7: 28,988,926 (GRCm39) |
I56N |
probably damaging |
Het |
| Ppp1r1a |
G |
A |
15: 103,441,477 (GRCm39) |
P79S |
probably damaging |
Het |
| Ptprf |
C |
T |
4: 118,082,305 (GRCm39) |
R1010H |
probably benign |
Het |
| Rai1 |
A |
G |
11: 60,081,423 (GRCm39) |
E1829G |
probably damaging |
Het |
| Rmdn3 |
A |
G |
2: 118,986,935 (GRCm39) |
Y31H |
probably damaging |
Het |
| Rrh |
T |
C |
3: 129,609,280 (GRCm39) |
S69G |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,752,121 (GRCm39) |
|
probably null |
Het |
| Slc22a27 |
C |
G |
19: 7,843,303 (GRCm39) |
A359P |
probably damaging |
Het |
| Sufu |
T |
C |
19: 46,439,404 (GRCm39) |
|
probably null |
Het |
| Tmem68 |
T |
C |
4: 3,560,561 (GRCm39) |
T208A |
possibly damaging |
Het |
| Tnc |
T |
A |
4: 63,911,534 (GRCm39) |
R1346* |
probably null |
Het |
| Tpbg |
T |
C |
9: 85,726,478 (GRCm39) |
L149P |
probably damaging |
Het |
| Trappc14 |
C |
T |
5: 138,260,502 (GRCm39) |
S308N |
probably benign |
Het |
| Ubtf |
G |
A |
11: 102,198,816 (GRCm39) |
Q585* |
probably null |
Het |
| Vmn2r68 |
A |
T |
7: 84,871,085 (GRCm39) |
C733S |
probably damaging |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,672,684 (GRCm39) |
H106Q |
probably benign |
Het |
| Wscd1 |
G |
T |
11: 71,659,501 (GRCm39) |
G194W |
possibly damaging |
Het |
| Zfp354b |
A |
C |
11: 50,813,917 (GRCm39) |
I336S |
probably benign |
Het |
| Zfp462 |
T |
A |
4: 55,016,887 (GRCm39) |
V870E |
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 |
|
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 |
|
|
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'- TGAGCGGACAGAATGATTCCC -3'
(R):5'- GTTGAGCATCCTAACCAAGAAC -3'
Sequencing Primer
(F):5'- CGGACAGAATGATTCCCATAGTG -3'
(R):5'- GCATCCTAACCAAGAACTCTGAAATG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation