Incidental Mutation 'IGL02373:Msantd5f6'
| ID |
290986 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Msantd5f6
|
| Ensembl Gene |
ENSMUSG00000066137 |
| Gene Name |
Myb/SANT DNA binding domain containing 5 family member 6 |
| Synonyms |
Gm11487 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
IGL02373
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
73319269-73323309 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73321880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 52
(M52V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081520
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084480]
|
| AlphaFold |
Q5RIS0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084480
AA Change: M52V
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000081520
Gene: ENSMUSG00000066137
AA Change: M52V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
69 |
84 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147434
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene belongs to a family of related genes tandemly arranged in two clusters on chromosome 4. This family, which appears to be mouse-specific and composed of multiple highly similar members, is supported by limited transcript data. Members of the family maintain an intact open reading frame although the encoded protein has no known function. This gene is inferred from alignment of paralogous transcripts. [provided by RefSeq, Apr 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
C |
T |
4: 86,168,042 (GRCm39) |
L462F |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,607,832 (GRCm39) |
D4080G |
possibly damaging |
Het |
| Apc |
A |
C |
18: 34,449,212 (GRCm39) |
D2002A |
probably damaging |
Het |
| Apobr |
T |
A |
7: 126,184,563 (GRCm39) |
F25I |
probably damaging |
Het |
| Cyp4a10 |
T |
A |
4: 115,378,274 (GRCm39) |
L120* |
probably null |
Het |
| Daam2 |
A |
G |
17: 49,780,408 (GRCm39) |
S704P |
probably damaging |
Het |
| Dcst1 |
G |
T |
3: 89,265,198 (GRCm39) |
N217K |
probably damaging |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Fmn1 |
C |
A |
2: 113,194,471 (GRCm39) |
P57Q |
unknown |
Het |
| Galnt1 |
G |
A |
18: 24,413,092 (GRCm39) |
G464D |
possibly damaging |
Het |
| Ggcx |
T |
A |
6: 72,404,902 (GRCm39) |
W437R |
probably damaging |
Het |
| Igkv13-54-1 |
T |
C |
6: 69,594,304 (GRCm39) |
|
noncoding transcript |
Het |
| Iglon5 |
T |
C |
7: 43,128,643 (GRCm39) |
E58G |
probably benign |
Het |
| Met |
C |
T |
6: 17,491,528 (GRCm39) |
P97S |
probably damaging |
Het |
| Myg1 |
T |
A |
15: 102,245,268 (GRCm39) |
M158K |
probably damaging |
Het |
| Ncald |
T |
A |
15: 37,372,453 (GRCm39) |
M131L |
probably benign |
Het |
| Nipa2 |
T |
C |
7: 55,582,876 (GRCm39) |
I290V |
probably benign |
Het |
| Or4f14b |
C |
A |
2: 111,775,178 (GRCm39) |
V208L |
probably benign |
Het |
| Or5p79 |
A |
T |
7: 108,221,310 (GRCm39) |
Y97F |
probably benign |
Het |
| Or6c219 |
A |
G |
10: 129,781,334 (GRCm39) |
L84S |
probably benign |
Het |
| Ppfia3 |
C |
T |
7: 45,008,273 (GRCm39) |
R48Q |
probably damaging |
Het |
| Rab12 |
A |
G |
17: 66,805,060 (GRCm39) |
L156P |
probably damaging |
Het |
| Slc28a3 |
C |
T |
13: 58,726,218 (GRCm39) |
|
probably null |
Het |
| Slc4a11 |
T |
C |
2: 130,526,818 (GRCm39) |
N770S |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,626,372 (GRCm39) |
|
probably null |
Het |
| Vmn2r130 |
A |
T |
17: 23,295,866 (GRCm39) |
R679* |
probably null |
Het |
| Vwa5b2 |
G |
A |
16: 20,423,594 (GRCm39) |
R1169H |
probably damaging |
Het |
|
| Other mutations in Msantd5f6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03275:Msantd5f6
|
APN |
4 |
73,321,653 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1066:Msantd5f6
|
UTSW |
4 |
73,320,066 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1274:Msantd5f6
|
UTSW |
4 |
73,321,313 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1742:Msantd5f6
|
UTSW |
4 |
73,319,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1863:Msantd5f6
|
UTSW |
4 |
73,320,037 (GRCm39) |
nonsense |
probably null |
|
|
R1903:Msantd5f6
|
UTSW |
4 |
73,321,675 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2027:Msantd5f6
|
UTSW |
4 |
73,321,295 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4011:Msantd5f6
|
UTSW |
4 |
73,320,047 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4801:Msantd5f6
|
UTSW |
4 |
73,319,504 (GRCm39) |
nonsense |
probably null |
|
|
R4802:Msantd5f6
|
UTSW |
4 |
73,319,504 (GRCm39) |
nonsense |
probably null |
|
|
R5213:Msantd5f6
|
UTSW |
4 |
73,319,571 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5334:Msantd5f6
|
UTSW |
4 |
73,321,754 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5345:Msantd5f6
|
UTSW |
4 |
73,319,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6093:Msantd5f6
|
UTSW |
4 |
73,320,258 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6786:Msantd5f6
|
UTSW |
4 |
73,321,843 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8033:Msantd5f6
|
UTSW |
4 |
73,321,329 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8093:Msantd5f6
|
UTSW |
4 |
73,321,759 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8877:Msantd5f6
|
UTSW |
4 |
73,322,468 (GRCm39) |
nonsense |
probably null |
|
|
R8975:Msantd5f6
|
UTSW |
4 |
73,320,167 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9191:Msantd5f6
|
UTSW |
4 |
73,319,670 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9230:Msantd5f6
|
UTSW |
4 |
73,319,685 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9338:Msantd5f6
|
UTSW |
4 |
73,320,245 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Posted On |
2015-04-16 |
Incidental Mutation