Incidental Mutation 'R8030:Sltm'
ID |
617899 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sltm
|
Ensembl Gene |
ENSMUSG00000032212 |
Gene Name |
SAFB-like, transcription modulator |
Synonyms |
5730455C01Rik, 5730555F13Rik, 9130215G10Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.958)
|
Stock # |
R8030 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
70450036-70499516 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 70493261 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 753
(R753*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049112
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049263]
[ENSMUST00000216816]
[ENSMUST00000217593]
|
AlphaFold |
Q8CH25 |
Predicted Effect |
probably null
Transcript: ENSMUST00000049263
AA Change: R753*
|
SMART Domains |
Protein: ENSMUSP00000049112 Gene: ENSMUSG00000032212 AA Change: R753*
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 null
Transcript: ENSMUST00000216816
AA Change: R735*
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217593
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B09Rik |
A |
G |
9: 14,672,970 (GRCm39) |
S98P |
probably benign |
Het |
Abca9 |
C |
T |
11: 110,011,534 (GRCm39) |
V1170I |
probably benign |
Het |
Acacb |
A |
G |
5: 114,371,228 (GRCm39) |
T1786A |
probably damaging |
Het |
Acmsd |
T |
C |
1: 127,676,898 (GRCm39) |
I141T |
possibly damaging |
Het |
Akr1c12 |
A |
G |
13: 4,322,244 (GRCm39) |
V266A |
possibly damaging |
Het |
Arhgef18 |
A |
T |
8: 3,489,600 (GRCm39) |
I311F |
probably damaging |
Het |
Armc2 |
T |
A |
10: 41,842,738 (GRCm39) |
N355I |
possibly damaging |
Het |
Armh1 |
T |
A |
4: 117,087,184 (GRCm39) |
K160N |
probably benign |
Het |
Asic1 |
A |
T |
15: 99,592,722 (GRCm39) |
T236S |
possibly damaging |
Het |
Avl9 |
T |
A |
6: 56,718,407 (GRCm39) |
D424E |
probably damaging |
Het |
Cbfa2t2 |
A |
T |
2: 154,357,816 (GRCm39) |
Q197L |
probably damaging |
Het |
Ccdc136 |
T |
C |
6: 29,417,141 (GRCm39) |
V654A |
probably benign |
Het |
Cd177 |
C |
T |
7: 24,455,594 (GRCm39) |
W309* |
probably null |
Het |
Cplane1 |
G |
T |
15: 8,259,787 (GRCm39) |
G2383V |
probably damaging |
Het |
Cracr2a |
A |
G |
6: 127,588,386 (GRCm39) |
K182E |
probably damaging |
Het |
Dpys |
T |
C |
15: 39,691,486 (GRCm39) |
T279A |
possibly damaging |
Het |
Dsc1 |
A |
T |
18: 20,222,628 (GRCm39) |
S615T |
probably benign |
Het |
Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
Efcab14 |
A |
G |
4: 115,623,599 (GRCm39) |
Q390R |
probably benign |
Het |
Eif4ebp2 |
G |
A |
10: 61,270,825 (GRCm39) |
A68V |
probably damaging |
Het |
Fam81a |
A |
G |
9: 70,010,191 (GRCm39) |
S149P |
probably benign |
Het |
Ffar4 |
A |
G |
19: 38,095,839 (GRCm39) |
I193V |
possibly damaging |
Het |
Flvcr2 |
T |
A |
12: 85,845,312 (GRCm39) |
V377D |
probably damaging |
Het |
Fscn1 |
C |
T |
5: 142,946,756 (GRCm39) |
R185C |
possibly damaging |
Het |
Gucy1b2 |
C |
T |
14: 62,630,319 (GRCm39) |
S809N |
probably benign |
Het |
H60b |
T |
A |
10: 22,163,020 (GRCm39) |
N198K |
probably damaging |
Het |
Helz2 |
A |
T |
2: 180,879,689 (GRCm39) |
F643Y |
possibly damaging |
Het |
Kash5 |
CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC |
CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC |
7: 44,837,608 (GRCm39) |
|
probably benign |
Het |
Kif28 |
A |
G |
1: 179,526,629 (GRCm39) |
V846A |
probably benign |
Het |
Kirrel1 |
C |
A |
3: 87,005,082 (GRCm39) |
G89W |
probably damaging |
Het |
Krt42 |
G |
C |
11: 100,155,865 (GRCm39) |
R294G |
possibly damaging |
Het |
Mb21d2 |
A |
G |
16: 28,646,555 (GRCm39) |
F473S |
probably damaging |
Het |
Mcrip2 |
G |
A |
17: 26,083,306 (GRCm39) |
Q111* |
probably null |
Het |
Msh5 |
A |
G |
17: 35,248,724 (GRCm39) |
Y741H |
possibly damaging |
Het |
Myo7b |
A |
G |
18: 32,131,135 (GRCm39) |
I544T |
probably damaging |
Het |
Nav1 |
T |
C |
1: 135,464,977 (GRCm39) |
E276G |
probably damaging |
Het |
Nr2f1 |
T |
C |
13: 78,343,565 (GRCm39) |
N233S |
probably benign |
Het |
Nrip2 |
A |
T |
6: 128,383,484 (GRCm39) |
D124V |
possibly damaging |
Het |
Or5al1 |
C |
T |
2: 85,990,586 (GRCm39) |
V43I |
probably benign |
Het |
Or8k16 |
T |
A |
2: 85,520,063 (GRCm39) |
C97S |
probably damaging |
Het |
Panx2 |
G |
T |
15: 88,952,282 (GRCm39) |
A250S |
probably damaging |
Het |
Pdc |
T |
C |
1: 150,208,964 (GRCm39) |
L149P |
probably damaging |
Het |
Pex5l |
T |
A |
3: 33,008,568 (GRCm39) |
I445F |
possibly damaging |
Het |
Pigc |
T |
C |
1: 161,798,116 (GRCm39) |
F33L |
probably damaging |
Het |
Pkp2 |
A |
T |
16: 16,064,774 (GRCm39) |
M433L |
probably benign |
Het |
Rbfox2 |
A |
G |
15: 76,969,776 (GRCm39) |
|
probably null |
Het |
Rd3l |
A |
G |
12: 111,946,584 (GRCm39) |
L64P |
possibly damaging |
Het |
Rnf220 |
A |
G |
4: 117,135,025 (GRCm39) |
Y409H |
probably damaging |
Het |
Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Sel1l2 |
T |
C |
2: 140,082,938 (GRCm39) |
T567A |
probably damaging |
Het |
Slc22a8 |
T |
C |
19: 8,587,371 (GRCm39) |
I477T |
probably damaging |
Het |
Specc1l |
T |
A |
10: 75,084,389 (GRCm39) |
M687K |
probably damaging |
Het |
Spock3 |
T |
G |
8: 63,805,232 (GRCm39) |
C338G |
probably damaging |
Het |
Ssh2 |
C |
A |
11: 77,345,332 (GRCm39) |
Q1106K |
probably benign |
Het |
Sycp2l |
A |
G |
13: 41,326,146 (GRCm39) |
M251V |
not run |
Het |
Tdrd5 |
C |
A |
1: 156,098,165 (GRCm39) |
E711* |
probably null |
Het |
Thop1 |
T |
C |
10: 80,911,450 (GRCm39) |
M112T |
possibly damaging |
Het |
Tln1 |
C |
T |
4: 43,535,737 (GRCm39) |
|
probably null |
Het |
Ttc28 |
A |
C |
5: 111,433,922 (GRCm39) |
I2319L |
possibly damaging |
Het |
Ttll11 |
A |
G |
2: 35,792,685 (GRCm39) |
I386T |
probably damaging |
Het |
Txndc8 |
T |
C |
4: 57,984,178 (GRCm39) |
E151G |
probably damaging |
Het |
Ubr1 |
T |
C |
2: 120,764,855 (GRCm39) |
E533G |
probably damaging |
Het |
Zscan4f |
A |
G |
7: 11,135,290 (GRCm39) |
H232R |
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 |
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 |
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'- AACAGCTAGTTCTGTCCCTGC -3'
(R):5'- AGTGTGGACTTAGCACTTCAC -3'
Sequencing Primer
(F):5'- TGCTACTCACTGTTGTATCTTGAG -3'
(R):5'- GTGGACTTAGCACTTCACTAAGATC -3'
|
Posted On |
2020-01-23 |