Incidental Mutation 'R7632:Sltm'
| ID |
589705 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sltm
|
| Ensembl Gene |
ENSMUSG00000032212 |
| Gene Name |
SAFB-like, transcription modulator |
| Synonyms |
9130215G10Rik, 5730555F13Rik, 5730455C01Rik |
| MMRRC Submission |
045720-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
R7632 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
70542754-70592234 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 70586673 bp (GRCm38)
|
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
95% (63/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap2a2 |
A |
G |
7: 141,631,323 (GRCm38) |
D924G |
probably benign |
Het |
| Armh1 |
C |
A |
4: 117,213,741 (GRCm38) |
A396S |
probably benign |
Het |
| Atrnl1 |
A |
G |
19: 57,630,306 (GRCm38) |
D152G |
probably damaging |
Het |
| B3gnt8 |
A |
G |
7: 25,628,435 (GRCm38) |
I97V |
possibly damaging |
Het |
| Bach1 |
A |
G |
16: 87,720,143 (GRCm38) |
D524G |
probably benign |
Het |
| Caprin2 |
T |
C |
6: 148,883,456 (GRCm38) |
S107G |
probably damaging |
Het |
| Ccnb1 |
A |
G |
13: 100,781,701 (GRCm38) |
I207T |
probably benign |
Het |
| Cdh11 |
T |
C |
8: 102,673,883 (GRCm38) |
D151G |
probably damaging |
Het |
| Cdh9 |
A |
G |
15: 16,851,029 (GRCm38) |
|
probably null |
Het |
| Cep83 |
A |
T |
10: 94,750,640 (GRCm38) |
R433W |
probably damaging |
Het |
| Cspg4b |
C |
A |
13: 113,320,886 (GRCm38) |
S1155R |
|
Het |
| D3Ertd751e |
A |
G |
3: 41,753,728 (GRCm38) |
E100G |
probably benign |
Het |
| Dchs2 |
C |
T |
3: 83,348,050 (GRCm38) |
A2351V |
probably benign |
Het |
| Dhx40 |
T |
C |
11: 86,799,437 (GRCm38) |
T253A |
probably benign |
Het |
| Dqx1 |
A |
G |
6: 83,059,699 (GRCm38) |
D228G |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,660,893 (GRCm38) |
M4002T |
probably benign |
Het |
| Flcn |
C |
T |
11: 59,795,799 (GRCm38) |
W376* |
probably null |
Het |
| Flnc |
A |
T |
6: 29,446,985 (GRCm38) |
Y1037F |
probably damaging |
Het |
| Fut11 |
T |
A |
14: 20,695,028 (GRCm38) |
V9E |
probably benign |
Het |
| Fv1 |
T |
A |
4: 147,869,935 (GRCm38) |
N319K |
possibly damaging |
Het |
| Ghrhr |
G |
T |
6: 55,384,742 (GRCm38) |
G298V |
probably benign |
Het |
| Gm5800 |
T |
A |
14: 51,716,448 (GRCm38) |
|
probably null |
Het |
| Grin2b |
A |
G |
6: 135,732,555 (GRCm38) |
M1331T |
probably benign |
Het |
| Hyou1 |
A |
G |
9: 44,381,136 (GRCm38) |
|
probably null |
Het |
| Igkv1-117 |
C |
A |
6: 68,121,808 (GRCm38) |
Q114K |
probably damaging |
Het |
| Igkv4-68 |
A |
G |
6: 69,305,064 (GRCm38) |
V41A |
possibly damaging |
Het |
| Inpp4b |
A |
G |
8: 82,046,339 (GRCm38) |
N754S |
probably damaging |
Het |
| Isl2 |
G |
A |
9: 55,541,156 (GRCm38) |
|
probably null |
Het |
| Kat2a |
G |
A |
11: 100,708,596 (GRCm38) |
Q523* |
probably null |
Het |
| Lypd3 |
T |
C |
7: 24,638,440 (GRCm38) |
F77S |
possibly damaging |
Het |
| Map4k2 |
T |
C |
19: 6,344,054 (GRCm38) |
L297P |
probably benign |
Het |
| Naca |
T |
C |
10: 128,040,506 (GRCm38) |
V469A |
unknown |
Het |
| Notch3 |
C |
T |
17: 32,158,506 (GRCm38) |
V199I |
probably benign |
Het |
| Or4k44 |
T |
C |
2: 111,538,176 (GRCm38) |
I38V |
possibly damaging |
Het |
| Or5b119 |
T |
C |
19: 13,479,431 (GRCm38) |
M256V |
possibly damaging |
Het |
| Pabpc1 |
TGTACCTGTTGCATGGTA |
TGTA |
15: 36,597,968 (GRCm38) |
|
probably null |
Het |
| Pcdhb8 |
A |
T |
18: 37,355,595 (GRCm38) |
I109L |
probably benign |
Het |
| Pde2a |
A |
G |
7: 101,484,594 (GRCm38) |
D104G |
possibly damaging |
Het |
| Phip |
A |
G |
9: 82,903,190 (GRCm38) |
V824A |
probably benign |
Het |
| Plekhg4 |
T |
C |
8: 105,380,150 (GRCm38) |
Y853H |
probably damaging |
Het |
| Plod1 |
T |
C |
4: 147,927,024 (GRCm38) |
K248R |
probably damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,976,639 (GRCm38) |
Y656N |
probably benign |
Het |
| Pogz |
G |
A |
3: 94,856,206 (GRCm38) |
|
probably null |
Het |
| Ppp1r3e |
T |
A |
14: 54,877,069 (GRCm38) |
S79C |
probably damaging |
Het |
| Pprc1 |
T |
A |
19: 46,072,282 (GRCm38) |
D1595E |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,711,922 (GRCm38) |
V205A |
probably benign |
Het |
| Rad51ap2 |
T |
C |
12: 11,457,115 (GRCm38) |
V346A |
possibly damaging |
Het |
| Rgs12 |
T |
A |
5: 34,965,590 (GRCm38) |
L239H |
probably damaging |
Het |
| Rrp8 |
T |
C |
7: 105,736,520 (GRCm38) |
|
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACCGCCGCG |
7: 97,579,906 (GRCm38) |
|
probably benign |
Het |
| Scaf1 |
A |
T |
7: 45,007,079 (GRCm38) |
V792D |
unknown |
Het |
| Scrn2 |
G |
T |
11: 97,033,142 (GRCm38) |
R284L |
possibly damaging |
Het |
| Sgsm1 |
T |
A |
5: 113,276,082 (GRCm38) |
Q461L |
possibly damaging |
Het |
| Slc18b1 |
A |
G |
10: 23,826,182 (GRCm38) |
T434A |
probably benign |
Het |
| Smc4 |
CTA |
CTATA |
3: 69,018,067 (GRCm38) |
|
probably benign |
Het |
| Snx33 |
A |
T |
9: 56,926,418 (GRCm38) |
D122E |
probably damaging |
Het |
| Srebf2 |
G |
T |
15: 82,185,296 (GRCm38) |
V680L |
probably benign |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm38) |
|
probably benign |
Het |
| Tecpr1 |
C |
T |
5: 144,218,726 (GRCm38) |
V5M |
probably benign |
Het |
| Tfg |
A |
G |
16: 56,712,634 (GRCm38) |
V54A |
possibly damaging |
Het |
| Tmem237 |
C |
T |
1: 59,116,901 (GRCm38) |
C30Y |
probably benign |
Het |
| Tmem245 |
T |
C |
4: 56,916,787 (GRCm38) |
K444R |
probably benign |
Het |
| Trim25 |
T |
G |
11: 89,015,776 (GRCm38) |
L446R |
probably null |
Het |
| Usp37 |
T |
C |
1: 74,468,374 (GRCm38) |
T495A |
probably benign |
Het |
| Vmn1r94 |
T |
G |
7: 20,167,771 (GRCm38) |
T203P |
probably damaging |
Het |
| Ywhah |
T |
A |
5: 33,026,666 (GRCm38) |
M71K |
probably benign |
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 |
|
R6720:Sltm
|
UTSW |
9 |
70,573,710 (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 |
|
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'- AATGAGGGCTTTTCTGGCAG -3'
(R):5'- TTGGTCTAGAAGGATTGGGCAC -3'
Sequencing Primer
(F):5'- GCCTTGCCATAATTTCCCTTAAAAG -3'
(R):5'- CTAGAAGGATTGGGCACAGTCTCTC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation