Incidental Mutation 'R7400:Sltm'
ID |
574108 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sltm
|
Ensembl Gene |
ENSMUSG00000032212 |
Gene Name |
SAFB-like, transcription modulator |
Synonyms |
5730455C01Rik, 5730555F13Rik, 9130215G10Rik |
MMRRC Submission |
045482-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.958)
|
Stock # |
R7400 (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 70493352 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 783
(V783E)
|
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: V783E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000049112 Gene: ENSMUSG00000032212 AA Change: V783E
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: V765E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217593
|
Meta Mutation Damage Score |
0.0788 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
97% (69/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
T |
C |
2: 68,496,547 (GRCm39) |
S118P |
unknown |
Het |
Ahnak |
T |
A |
19: 8,991,977 (GRCm39) |
D4420E |
probably damaging |
Het |
Atp5mc2 |
C |
T |
15: 102,573,547 (GRCm39) |
A90T |
possibly damaging |
Het |
Batf2 |
A |
G |
19: 6,221,538 (GRCm39) |
Y116C |
probably damaging |
Het |
Cd48 |
G |
A |
1: 171,523,493 (GRCm39) |
R112H |
probably benign |
Het |
Cdh8 |
A |
T |
8: 100,006,192 (GRCm39) |
Y132N |
probably damaging |
Het |
Cfap70 |
A |
C |
14: 20,458,335 (GRCm39) |
S793A |
probably benign |
Het |
Cmip |
A |
G |
8: 117,984,144 (GRCm39) |
|
probably null |
Het |
Cyp1a2 |
T |
C |
9: 57,589,223 (GRCm39) |
N197S |
probably benign |
Het |
Diaph1 |
T |
C |
18: 37,987,555 (GRCm39) |
D1067G |
probably damaging |
Het |
Disp2 |
T |
C |
2: 118,622,367 (GRCm39) |
L1033P |
probably damaging |
Het |
Dock6 |
G |
T |
9: 21,713,103 (GRCm39) |
A1981D |
possibly damaging |
Het |
Eci3 |
T |
C |
13: 35,143,960 (GRCm39) |
D55G |
probably benign |
Het |
Eea1 |
T |
A |
10: 95,831,432 (GRCm39) |
D174E |
probably benign |
Het |
Ehd2 |
T |
C |
7: 15,684,581 (GRCm39) |
E406G |
possibly damaging |
Het |
Erich3 |
A |
G |
3: 154,468,214 (GRCm39) |
K889E |
|
Het |
Fat4 |
C |
A |
3: 38,942,073 (GRCm39) |
T322K |
probably damaging |
Het |
Fitm1 |
A |
T |
14: 55,814,226 (GRCm39) |
I241F |
possibly damaging |
Het |
Fscb |
C |
A |
12: 64,518,391 (GRCm39) |
S1025I |
unknown |
Het |
Gpsm2 |
T |
A |
3: 108,587,004 (GRCm39) |
D644V |
probably damaging |
Het |
Gucy2d |
C |
A |
7: 98,092,847 (GRCm39) |
L75M |
possibly damaging |
Het |
Gvin2 |
T |
A |
7: 105,551,247 (GRCm39) |
I602F |
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,550,181 (GRCm39) |
I2668V |
probably damaging |
Het |
Hoxa7 |
A |
G |
6: 52,194,033 (GRCm39) |
I118T |
possibly damaging |
Het |
Hsp90ab1 |
A |
G |
17: 45,880,210 (GRCm39) |
V473A |
probably benign |
Het |
Ica1l |
T |
C |
1: 60,081,801 (GRCm39) |
|
probably null |
Het |
Ighv1-72 |
A |
G |
12: 115,721,837 (GRCm39) |
S40P |
probably damaging |
Het |
Inhca |
T |
A |
9: 103,127,861 (GRCm39) |
E690V |
probably benign |
Het |
Kif28 |
A |
C |
1: 179,527,839 (GRCm39) |
W771G |
probably damaging |
Het |
Klf13 |
G |
C |
7: 63,587,996 (GRCm39) |
A100G |
probably benign |
Het |
Klhl5 |
A |
G |
5: 65,305,933 (GRCm39) |
E300G |
possibly damaging |
Het |
Krt40 |
A |
G |
11: 99,433,969 (GRCm39) |
S6P |
probably benign |
Het |
Map3k13 |
C |
T |
16: 21,741,072 (GRCm39) |
R800W |
probably damaging |
Het |
Mef2d |
T |
C |
3: 88,075,038 (GRCm39) |
L408P |
possibly damaging |
Het |
Mmp10 |
T |
A |
9: 7,503,301 (GRCm39) |
M87K |
probably damaging |
Het |
Mrgprd |
T |
A |
7: 144,875,643 (GRCm39) |
H171Q |
probably benign |
Het |
Muc1 |
C |
T |
3: 89,137,953 (GRCm39) |
T265I |
possibly damaging |
Het |
Myo15b |
A |
G |
11: 115,750,939 (GRCm39) |
N570D |
|
Het |
Nfs1 |
T |
A |
2: 155,968,243 (GRCm39) |
I408F |
probably damaging |
Het |
Npdc1 |
G |
T |
2: 25,296,257 (GRCm39) |
C48F |
probably damaging |
Het |
Or2j3 |
A |
T |
17: 38,616,222 (GRCm39) |
N43K |
possibly damaging |
Het |
Or52e7 |
T |
C |
7: 104,684,417 (GRCm39) |
I4T |
probably benign |
Het |
Or52j3 |
T |
C |
7: 102,836,587 (GRCm39) |
S260P |
probably damaging |
Het |
Or9a2 |
A |
T |
6: 41,748,678 (GRCm39) |
L185H |
probably damaging |
Het |
Osbpl2 |
T |
C |
2: 179,795,114 (GRCm39) |
M332T |
probably benign |
Het |
Ostm1 |
T |
A |
10: 42,574,213 (GRCm39) |
V302D |
probably damaging |
Het |
Otof |
T |
C |
5: 30,542,532 (GRCm39) |
D672G |
probably benign |
Het |
Plekha6 |
A |
T |
1: 133,201,762 (GRCm39) |
K392* |
probably null |
Het |
Pnpla1 |
A |
T |
17: 29,077,950 (GRCm39) |
D37V |
probably damaging |
Het |
Rasgrp1 |
A |
G |
2: 117,129,026 (GRCm39) |
S198P |
probably damaging |
Het |
Reln |
A |
T |
5: 22,176,932 (GRCm39) |
N1911K |
probably damaging |
Het |
Ripply3 |
C |
A |
16: 94,136,759 (GRCm39) |
A140E |
probably benign |
Het |
Siglec1 |
A |
G |
2: 130,928,015 (GRCm39) |
C8R |
possibly damaging |
Het |
Slamf6 |
T |
C |
1: 171,747,360 (GRCm39) |
S41P |
unknown |
Het |
Slc15a5 |
A |
G |
6: 138,050,055 (GRCm39) |
M120T |
probably benign |
Het |
Slc25a20 |
T |
G |
9: 108,559,172 (GRCm39) |
D179E |
possibly damaging |
Het |
Smc1b |
C |
A |
15: 84,953,921 (GRCm39) |
R1116L |
probably damaging |
Het |
Smim23 |
A |
G |
11: 32,774,471 (GRCm39) |
V16A |
probably benign |
Het |
Spata20 |
A |
G |
11: 94,374,226 (GRCm39) |
V348A |
probably benign |
Het |
Spen |
T |
C |
4: 141,201,052 (GRCm39) |
D2525G |
probably damaging |
Het |
St14 |
A |
C |
9: 31,019,571 (GRCm39) |
N83K |
probably benign |
Het |
Stab1 |
T |
C |
14: 30,879,341 (GRCm39) |
N713S |
probably null |
Het |
Syne1 |
A |
T |
10: 5,168,580 (GRCm39) |
L5267H |
probably benign |
Het |
Tenm4 |
T |
C |
7: 96,344,010 (GRCm39) |
L271P |
probably damaging |
Het |
Tfap2d |
C |
T |
1: 19,213,150 (GRCm39) |
H325Y |
possibly damaging |
Het |
Trav23 |
A |
G |
14: 54,215,020 (GRCm39) |
R78G |
probably benign |
Het |
Ttc39c |
A |
T |
18: 12,776,856 (GRCm39) |
|
probably benign |
Het |
Unc79 |
A |
G |
12: 103,070,889 (GRCm39) |
D1228G |
probably damaging |
Het |
Vmn1r66 |
T |
A |
7: 10,008,874 (GRCm39) |
H53L |
probably damaging |
Het |
Vps13b |
A |
T |
15: 35,379,046 (GRCm39) |
L53F |
probably damaging |
Het |
Zfp532 |
C |
T |
18: 65,771,984 (GRCm39) |
T834M |
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 |
|
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'- ATCCAAAAGAACGCTGTTTGG -3'
(R):5'- TTTCCAGTTGAAGGTAAGAAGACC -3'
Sequencing Primer
(F):5'- CAAAAGAACGCTGTTTGGTAATTATC -3'
(R):5'- TTGAAGGTAAGAAGACCACAGCACTC -3'
|
Posted On |
2019-09-13 |