Incidental Mutation 'R6923:Sltm'
ID |
539742 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sltm
|
Ensembl Gene |
ENSMUSG00000032212 |
Gene Name |
SAFB-like, transcription modulator |
Synonyms |
5730455C01Rik, 5730555F13Rik, 9130215G10Rik |
MMRRC Submission |
045381-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.958)
|
Stock # |
R6923 (G1)
|
Quality Score |
151.008 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
70450036-70499516 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 70481892 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 365
(S365T)
|
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: S365T
|
SMART Domains |
Protein: ENSMUSP00000049112 Gene: ENSMUSG00000032212 AA Change: S365T
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 |
unknown
Transcript: ENSMUST00000216816
AA Change: S347T
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217593
AA Change: S365T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Albfm1 |
A |
G |
5: 90,725,652 (GRCm39) |
N288S |
probably benign |
Het |
Ap4b1 |
T |
A |
3: 103,719,530 (GRCm39) |
D81E |
probably benign |
Het |
Atg16l1 |
A |
T |
1: 87,702,078 (GRCm39) |
|
probably null |
Het |
Atp11a |
A |
G |
8: 12,906,949 (GRCm39) |
T459A |
probably damaging |
Het |
Bloc1s5 |
T |
A |
13: 38,815,040 (GRCm39) |
I40F |
probably damaging |
Het |
Bltp2 |
T |
A |
11: 78,165,452 (GRCm39) |
S1323T |
possibly damaging |
Het |
Capn5 |
T |
A |
7: 97,778,461 (GRCm39) |
Q386L |
probably damaging |
Het |
Cbfa2t2 |
C |
T |
2: 154,376,903 (GRCm39) |
H529Y |
probably damaging |
Het |
Cd3d |
T |
C |
9: 44,897,157 (GRCm39) |
|
probably benign |
Het |
Cenpa |
A |
G |
5: 30,829,806 (GRCm39) |
|
probably null |
Het |
Chit1 |
A |
T |
1: 134,077,163 (GRCm39) |
Y322F |
probably null |
Het |
Cntnap5c |
T |
A |
17: 58,399,345 (GRCm39) |
N399K |
possibly damaging |
Het |
Dock8 |
A |
T |
19: 25,072,970 (GRCm39) |
T417S |
probably benign |
Het |
Firrm |
A |
G |
1: 163,814,454 (GRCm39) |
|
probably null |
Het |
Fkbp2 |
A |
G |
19: 6,956,537 (GRCm39) |
|
|
Het |
Fsip1 |
G |
A |
2: 118,080,394 (GRCm39) |
R121C |
probably benign |
Het |
Gbp2b |
T |
C |
3: 142,306,320 (GRCm39) |
I131T |
probably benign |
Het |
Gm12695 |
T |
C |
4: 96,658,053 (GRCm39) |
N39D |
probably benign |
Het |
Gm4922 |
T |
C |
10: 18,659,616 (GRCm39) |
R369G |
probably damaging |
Het |
Gpatch3 |
C |
T |
4: 133,309,836 (GRCm39) |
L390F |
probably damaging |
Het |
Gpd2 |
G |
A |
2: 57,245,800 (GRCm39) |
M443I |
probably damaging |
Het |
Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
Hdac1-ps |
A |
G |
17: 78,800,343 (GRCm39) |
T445A |
possibly damaging |
Het |
Jph3 |
A |
G |
8: 122,480,110 (GRCm39) |
T263A |
possibly damaging |
Het |
Me3 |
C |
A |
7: 89,495,093 (GRCm39) |
A337E |
probably damaging |
Het |
Mndal |
A |
C |
1: 173,712,264 (GRCm39) |
|
probably null |
Het |
Msantd5l |
C |
T |
11: 51,144,808 (GRCm39) |
D158N |
probably damaging |
Het |
Muc6 |
C |
T |
7: 141,217,453 (GRCm39) |
E2342K |
possibly damaging |
Het |
Neb |
A |
G |
2: 52,076,076 (GRCm39) |
V5659A |
probably damaging |
Het |
Nkapd1 |
T |
A |
9: 50,521,610 (GRCm39) |
I104L |
probably benign |
Het |
Nrxn1 |
G |
A |
17: 91,395,661 (GRCm39) |
A165V |
probably benign |
Het |
Or5b94 |
T |
A |
19: 12,652,409 (GRCm39) |
I280N |
possibly damaging |
Het |
Or5b97 |
T |
C |
19: 12,878,676 (GRCm39) |
N156S |
probably benign |
Het |
Orc2 |
A |
G |
1: 58,539,534 (GRCm39) |
L35S |
probably benign |
Het |
Pax4 |
A |
G |
6: 28,447,118 (GRCm39) |
|
probably null |
Het |
Pcdhb7 |
C |
T |
18: 37,475,522 (GRCm39) |
|
probably null |
Het |
Pla2r1 |
C |
T |
2: 60,345,310 (GRCm39) |
E349K |
probably benign |
Het |
Polr2a |
C |
T |
11: 69,626,787 (GRCm39) |
A1516T |
probably benign |
Het |
Pramel23 |
A |
T |
4: 143,425,676 (GRCm39) |
I89N |
probably benign |
Het |
Prpf38a |
G |
T |
4: 108,427,401 (GRCm39) |
D187E |
possibly damaging |
Het |
Rdh16f1 |
T |
A |
10: 127,624,737 (GRCm39) |
|
probably null |
Het |
S100z |
T |
A |
13: 95,615,090 (GRCm39) |
D25V |
probably damaging |
Het |
Scamp2 |
T |
G |
9: 57,488,895 (GRCm39) |
F199V |
probably damaging |
Het |
Semp2l2b |
C |
A |
10: 21,943,654 (GRCm39) |
G109C |
probably damaging |
Het |
Senp2 |
T |
G |
16: 21,830,326 (GRCm39) |
|
probably benign |
Het |
Smg6 |
C |
G |
11: 74,820,169 (GRCm39) |
P147A |
possibly damaging |
Het |
Spem2 |
T |
A |
11: 69,708,603 (GRCm39) |
R121W |
probably damaging |
Het |
Sufu |
A |
G |
19: 46,439,405 (GRCm39) |
|
probably null |
Het |
Syt2 |
T |
C |
1: 134,674,501 (GRCm39) |
V313A |
possibly damaging |
Het |
Tet2 |
C |
T |
3: 133,185,102 (GRCm39) |
|
probably null |
Het |
Tfeb |
T |
A |
17: 48,097,908 (GRCm39) |
I232N |
probably benign |
Het |
Ticrr |
T |
G |
7: 79,341,601 (GRCm39) |
I1062M |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vrk2 |
G |
A |
11: 26,439,893 (GRCm39) |
A226V |
probably damaging |
Het |
Wnk1 |
A |
T |
6: 119,942,639 (GRCm39) |
|
probably benign |
Het |
Xpo4 |
G |
T |
14: 57,841,168 (GRCm39) |
T505K |
probably benign |
Het |
Yy1 |
A |
T |
12: 108,759,594 (GRCm39) |
I86F |
probably benign |
Het |
Zc3h15 |
A |
G |
2: 83,487,400 (GRCm39) |
D73G |
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 |
|
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'- TTGGGCAAAATCAGTTCAAGAATCC -3'
(R):5'- AGTTTTAAATGACAGGGCTTGC -3'
Sequencing Primer
(F):5'- TCCTAAGGGAGCCATTTCAAGTAGC -3'
(R):5'- TGACAGGGCTTGCTAAAATTG -3'
|
Posted On |
2018-11-06 |