Incidental Mutation 'R6297:Sltm'
| ID |
508847 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sltm
|
| Ensembl Gene |
ENSMUSG00000032212 |
| Gene Name |
SAFB-like, transcription modulator |
| Synonyms |
5730455C01Rik, 5730555F13Rik, 9130215G10Rik |
| MMRRC Submission |
044464-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R6297 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
70450036-70499516 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70488641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 597
(D597G)
|
| 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: D597G
|
| SMART Domains |
Protein: ENSMUSP00000049112
Gene: ENSMUSG00000032212
AA Change: D597G
| 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: D579G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216881
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217593
AA Change: D597G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
98% (45/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,926,179 (GRCm39) |
V1205A |
probably benign |
Het |
| Adgra3 |
G |
A |
5: 50,118,189 (GRCm39) |
P1120S |
probably benign |
Het |
| Ate1 |
A |
G |
7: 130,105,570 (GRCm39) |
V316A |
probably damaging |
Het |
| Bpifa1 |
A |
G |
2: 153,986,180 (GRCm39) |
I102V |
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,557,655 (GRCm39) |
|
probably null |
Het |
| Ccdc47 |
T |
C |
11: 106,094,427 (GRCm39) |
Y324C |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 164,985,564 (GRCm39) |
K341E |
possibly damaging |
Het |
| Cenpb |
A |
G |
2: 131,020,289 (GRCm39) |
|
probably benign |
Het |
| Dgkd |
A |
G |
1: 87,853,866 (GRCm39) |
I570V |
possibly damaging |
Het |
| Dhx32 |
A |
T |
7: 133,344,529 (GRCm39) |
Y27N |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,852,144 (GRCm39) |
D1824G |
possibly damaging |
Het |
| Fbxo8 |
T |
A |
8: 57,022,323 (GRCm39) |
C112S |
probably damaging |
Het |
| Fndc3a |
T |
C |
14: 72,800,980 (GRCm39) |
D590G |
probably damaging |
Het |
| Gm19965 |
T |
A |
1: 116,750,410 (GRCm39) |
I697N |
possibly damaging |
Het |
| Greb1l |
G |
A |
18: 10,469,494 (GRCm39) |
D170N |
probably damaging |
Het |
| Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
| Igfn1 |
A |
T |
1: 135,892,399 (GRCm39) |
|
probably null |
Het |
| Ighg2b |
T |
C |
12: 113,270,512 (GRCm39) |
E206G |
unknown |
Het |
| Ints15 |
A |
T |
5: 143,293,787 (GRCm39) |
L230Q |
possibly damaging |
Het |
| Lman2 |
T |
C |
13: 55,496,244 (GRCm39) |
N267S |
probably damaging |
Het |
| Lrfn5 |
A |
T |
12: 61,890,348 (GRCm39) |
I546F |
probably benign |
Het |
| Lrrc4c |
T |
C |
2: 97,459,964 (GRCm39) |
S197P |
probably damaging |
Het |
| Mbtd1 |
C |
T |
11: 93,823,058 (GRCm39) |
H493Y |
possibly damaging |
Het |
| Mdga2 |
A |
G |
12: 66,553,027 (GRCm39) |
Y793H |
probably damaging |
Het |
| Mdn1 |
C |
T |
4: 32,730,054 (GRCm39) |
R2799* |
probably null |
Het |
| Mup13 |
T |
A |
4: 61,181,634 (GRCm39) |
I148F |
probably benign |
Het |
| Or2aj5 |
A |
C |
16: 19,424,680 (GRCm39) |
V246G |
possibly damaging |
Het |
| Or5m10 |
A |
G |
2: 85,717,159 (GRCm39) |
N5S |
probably benign |
Het |
| Or8g53 |
A |
T |
9: 39,683,522 (GRCm39) |
D191E |
possibly damaging |
Het |
| Pdgfra |
A |
G |
5: 75,334,135 (GRCm39) |
K403E |
possibly damaging |
Het |
| Pigz |
A |
T |
16: 31,763,755 (GRCm39) |
Y271F |
probably damaging |
Het |
| Plekhg4 |
T |
C |
8: 106,104,472 (GRCm39) |
L517P |
probably damaging |
Het |
| Rnf20 |
T |
C |
4: 49,642,132 (GRCm39) |
L232P |
probably damaging |
Het |
| Rpa3 |
C |
A |
6: 8,256,767 (GRCm39) |
G71* |
probably null |
Het |
| Rsf1 |
GCG |
GCGACGGCGTCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
A |
G |
14: 75,287,584 (GRCm39) |
T623A |
probably benign |
Het |
| Stpg2 |
T |
C |
3: 139,407,432 (GRCm39) |
V528A |
possibly damaging |
Het |
| Supt6 |
C |
T |
11: 78,116,885 (GRCm39) |
R589Q |
possibly damaging |
Het |
| Tas1r2 |
T |
A |
4: 139,389,361 (GRCm39) |
M419K |
possibly damaging |
Het |
| Txndc16 |
T |
C |
14: 45,389,243 (GRCm39) |
T486A |
probably benign |
Het |
| Vamp9 |
A |
G |
5: 100,089,092 (GRCm39) |
Y119C |
probably damaging |
Het |
| Vmn1r185 |
A |
G |
7: 26,311,046 (GRCm39) |
V153A |
probably benign |
Het |
| Vmn2r48 |
T |
C |
7: 9,668,807 (GRCm39) |
N548D |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,215,895 (GRCm39) |
I378T |
possibly damaging |
Het |
| Wdr37 |
A |
G |
13: 8,892,764 (GRCm39) |
|
probably null |
Het |
| Xrn2 |
G |
A |
2: 146,868,490 (GRCm39) |
R181H |
probably damaging |
Het |
| Ylpm1 |
C |
G |
12: 85,062,051 (GRCm39) |
P651A |
unknown |
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 |
|
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'- TCCAAAAGCTGTTGTCATCAAGC -3'
(R):5'- ATCCCTAGCAGGCTGGATTATAG -3'
Sequencing Primer
(F):5'- CTGCGTGCCAGAAAGTTCATG -3'
(R):5'- CCTAGCAGGCTGGATTATAGCTAAAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation