Incidental Mutation 'IGL02441:Sltm'
| ID |
294003 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sltm
|
| Ensembl Gene |
ENSMUSG00000032212 |
| Gene Name |
SAFB-like, transcription modulator |
| Synonyms |
5730455C01Rik, 5730555F13Rik, 9130215G10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
IGL02441
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
70450036-70499516 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 70494467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 921
(S921I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149059
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049263]
[ENSMUST00000216816]
[ENSMUST00000217593]
|
| AlphaFold |
Q8CH25 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049263
AA Change: S939I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049112
Gene: ENSMUSG00000032212
AA Change: S939I
| 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: S921I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216881
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217593
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg8 |
C |
T |
7: 97,029,504 (GRCm39) |
R179C |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,254,631 (GRCm39) |
M242T |
probably damaging |
Het |
| Atad1 |
C |
T |
19: 32,684,348 (GRCm39) |
V17I |
probably benign |
Het |
| Bag4 |
A |
G |
8: 26,258,136 (GRCm39) |
V397A |
probably damaging |
Het |
| Brd7 |
A |
G |
8: 89,070,218 (GRCm39) |
V396A |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cdhr4 |
T |
A |
9: 107,870,466 (GRCm39) |
I123N |
possibly damaging |
Het |
| Cep68 |
A |
G |
11: 20,189,186 (GRCm39) |
F609L |
probably benign |
Het |
| Clec3b |
C |
A |
9: 122,980,178 (GRCm39) |
P24T |
possibly damaging |
Het |
| Ctsg |
T |
A |
14: 56,339,869 (GRCm39) |
T9S |
probably benign |
Het |
| Dalrd3 |
A |
T |
9: 108,448,725 (GRCm39) |
|
probably benign |
Het |
| Dock6 |
A |
T |
9: 21,753,222 (GRCm39) |
V286E |
possibly damaging |
Het |
| Dpep2 |
G |
A |
8: 106,711,723 (GRCm39) |
A568V |
probably benign |
Het |
| Dph5 |
A |
C |
3: 115,720,390 (GRCm39) |
Q192P |
possibly damaging |
Het |
| Eppin |
T |
A |
2: 164,433,698 (GRCm39) |
R37* |
probably null |
Het |
| Esyt1 |
A |
G |
10: 128,348,293 (GRCm39) |
L865P |
possibly damaging |
Het |
| Exoc6b |
A |
G |
6: 84,981,990 (GRCm39) |
L102P |
probably damaging |
Het |
| Foxo6 |
A |
G |
4: 120,125,232 (GRCm39) |
I521T |
possibly damaging |
Het |
| Guca1a |
A |
T |
17: 47,705,578 (GRCm39) |
|
probably benign |
Het |
| Hpx |
A |
G |
7: 105,241,430 (GRCm39) |
F327S |
probably damaging |
Het |
| Hspa12b |
A |
G |
2: 130,980,515 (GRCm39) |
M145V |
probably null |
Het |
| Hspa4 |
A |
T |
11: 53,161,809 (GRCm39) |
S448T |
probably benign |
Het |
| Kbtbd6 |
T |
C |
14: 79,690,759 (GRCm39) |
Y422H |
probably benign |
Het |
| Lama4 |
A |
T |
10: 38,937,441 (GRCm39) |
D677V |
probably benign |
Het |
| Ldb1 |
C |
T |
19: 46,024,195 (GRCm39) |
E111K |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,281,029 (GRCm39) |
S3823P |
probably damaging |
Het |
| Man1a2 |
G |
A |
3: 100,499,189 (GRCm39) |
T415I |
probably benign |
Het |
| Map3k2 |
T |
C |
18: 32,333,099 (GRCm39) |
|
probably benign |
Het |
| Morn5 |
T |
A |
2: 35,945,038 (GRCm39) |
Y87* |
probably null |
Het |
| Mpp3 |
T |
C |
11: 101,900,501 (GRCm39) |
D326G |
probably benign |
Het |
| Mrgprx1 |
T |
C |
7: 47,671,336 (GRCm39) |
H137R |
probably benign |
Het |
| Nav2 |
C |
A |
7: 49,102,260 (GRCm39) |
P292T |
probably damaging |
Het |
| Nlrp2 |
C |
A |
7: 5,338,566 (GRCm39) |
|
probably null |
Het |
| Noxo1 |
G |
A |
17: 24,918,030 (GRCm39) |
S112N |
probably damaging |
Het |
| Nudt9 |
G |
T |
5: 104,212,885 (GRCm39) |
K319N |
probably benign |
Het |
| Or8b38 |
A |
T |
9: 37,973,233 (GRCm39) |
I206L |
probably benign |
Het |
| Osbpl7 |
C |
A |
11: 96,958,528 (GRCm39) |
Q728K |
probably damaging |
Het |
| Pcsk1 |
A |
T |
13: 75,280,282 (GRCm39) |
E702D |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,205,933 (GRCm39) |
D1492G |
probably damaging |
Het |
| Plekhg1 |
A |
G |
10: 3,908,103 (GRCm39) |
K1007E |
possibly damaging |
Het |
| Ppp6r3 |
G |
A |
19: 3,514,693 (GRCm39) |
P141S |
probably benign |
Het |
| Prrt3 |
T |
C |
6: 113,473,977 (GRCm39) |
T354A |
probably damaging |
Het |
| Ptk2 |
C |
A |
15: 73,192,675 (GRCm39) |
W181L |
probably benign |
Het |
| Rif1 |
T |
A |
2: 51,995,527 (GRCm39) |
H915Q |
probably benign |
Het |
| Selenbp2 |
G |
T |
3: 94,611,371 (GRCm39) |
V361L |
probably benign |
Het |
| Slamf7 |
A |
G |
1: 171,468,625 (GRCm39) |
L89P |
probably damaging |
Het |
| Slc6a21 |
G |
A |
7: 44,937,505 (GRCm39) |
V599M |
probably damaging |
Het |
| Smc4 |
C |
A |
3: 68,913,544 (GRCm39) |
A44E |
probably damaging |
Het |
| Tdrd5 |
A |
T |
1: 156,087,513 (GRCm39) |
|
probably benign |
Het |
| Tead2 |
T |
A |
7: 44,866,845 (GRCm39) |
I68N |
probably damaging |
Het |
| Tnks1bp1 |
T |
A |
2: 84,902,143 (GRCm39) |
S1680T |
probably damaging |
Het |
| Topbp1 |
T |
C |
9: 103,197,438 (GRCm39) |
V386A |
possibly damaging |
Het |
| Tpx2 |
C |
A |
2: 152,724,207 (GRCm39) |
P328T |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,576,332 (GRCm39) |
I24854F |
probably damaging |
Het |
| Zbtb11 |
G |
A |
16: 55,794,552 (GRCm39) |
R43H |
possibly damaging |
Het |
| Zfp609 |
A |
G |
9: 65,610,611 (GRCm39) |
L784S |
possibly damaging |
Het |
| Zfp703 |
T |
C |
8: 27,470,036 (GRCm39) |
S567P |
probably damaging |
Het |
| Zfp750 |
A |
G |
11: 121,404,455 (GRCm39) |
I140T |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation