Incidental Mutation 'R1066:Msantd5f6'
| ID |
85991 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msantd5f6
|
| Ensembl Gene |
ENSMUSG00000066137 |
| Gene Name |
Myb/SANT DNA binding domain containing 5 family member 6 |
| Synonyms |
Gm11487 |
| MMRRC Submission |
039152-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
R1066 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
73319269-73323309 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 73320066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 238
(V238L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081520
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084480]
|
| AlphaFold |
Q5RIS0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084480
AA Change: V238L
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000081520
Gene: ENSMUSG00000066137
AA Change: V238L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
69 |
84 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147434
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.1%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts8 |
T |
A |
9: 30,867,837 (GRCm39) |
C554S |
probably damaging |
Het |
| Adarb2 |
T |
G |
13: 8,807,359 (GRCm39) |
F720C |
probably benign |
Het |
| Arid5b |
T |
C |
10: 67,934,186 (GRCm39) |
D572G |
probably benign |
Het |
| BB014433 |
C |
T |
8: 15,092,185 (GRCm39) |
V223M |
probably damaging |
Het |
| Boc |
T |
C |
16: 44,311,047 (GRCm39) |
|
probably null |
Het |
| Brf2 |
T |
C |
8: 27,613,974 (GRCm39) |
E404G |
probably benign |
Het |
| Ces3a |
T |
A |
8: 105,782,288 (GRCm39) |
H380Q |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,712,764 (GRCm39) |
Y389* |
probably null |
Het |
| Csmd3 |
A |
G |
15: 47,777,361 (GRCm39) |
F1182L |
probably damaging |
Het |
| Dnah2 |
C |
A |
11: 69,338,645 (GRCm39) |
W3169L |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,660,232 (GRCm39) |
E802D |
probably damaging |
Het |
| Dtx4 |
G |
T |
19: 12,478,373 (GRCm39) |
T70K |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,011,376 (GRCm39) |
Y2159H |
probably damaging |
Het |
| Flrt2 |
T |
A |
12: 95,745,833 (GRCm39) |
V57E |
probably damaging |
Het |
| Gsdmc2 |
T |
A |
15: 63,696,899 (GRCm39) |
Y424F |
possibly damaging |
Het |
| Igfn1 |
T |
C |
1: 135,898,463 (GRCm39) |
E701G |
probably benign |
Het |
| Klhl42 |
T |
C |
6: 147,009,397 (GRCm39) |
V412A |
probably benign |
Het |
| Mkln1 |
A |
C |
6: 31,395,922 (GRCm39) |
N52T |
possibly damaging |
Het |
| Myo15b |
A |
T |
11: 115,770,577 (GRCm39) |
M1519L |
probably benign |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or5b113 |
T |
C |
19: 13,342,451 (GRCm39) |
M153T |
probably benign |
Het |
| P4ha3 |
G |
T |
7: 99,967,270 (GRCm39) |
V360L |
possibly damaging |
Het |
| Pals2 |
A |
T |
6: 50,122,847 (GRCm39) |
N31I |
possibly damaging |
Het |
| Phf14 |
T |
A |
6: 11,987,254 (GRCm39) |
D611E |
possibly damaging |
Het |
| Pik3r1 |
T |
A |
13: 101,825,171 (GRCm39) |
R465S |
probably damaging |
Het |
| Reep3 |
G |
T |
10: 66,870,445 (GRCm39) |
T117K |
probably damaging |
Het |
| Reln |
G |
T |
5: 22,239,662 (GRCm39) |
N868K |
probably damaging |
Het |
| Sdcbp |
T |
G |
4: 6,385,120 (GRCm39) |
I113S |
probably damaging |
Het |
| Sema4c |
A |
T |
1: 36,589,281 (GRCm39) |
V615E |
possibly damaging |
Het |
| Slc25a18 |
A |
G |
6: 120,765,249 (GRCm39) |
|
probably null |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Uba2 |
A |
T |
7: 33,858,247 (GRCm39) |
F70I |
probably damaging |
Het |
| Usp42 |
A |
T |
5: 143,703,796 (GRCm39) |
H422Q |
probably damaging |
Het |
| Vmn2r86 |
C |
T |
10: 130,282,145 (GRCm39) |
V824I |
probably benign |
Het |
| Vps50 |
A |
C |
6: 3,533,565 (GRCm39) |
T266P |
probably damaging |
Het |
| Znhit6 |
T |
A |
3: 145,284,252 (GRCm39) |
D141E |
probably damaging |
Het |
|
| Other mutations in Msantd5f6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02373:Msantd5f6
|
APN |
4 |
73,321,880 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03275:Msantd5f6
|
APN |
4 |
73,321,653 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCTCAGCTCTGTCCTCATGAAG -3'
(R):5'- GCTCTCCTGCAAGTGTTCCCAATG -3'
Sequencing Primer
(F):5'- AGGACAGGCCATCTGATGC -3'
(R):5'- CAGTTCAATGTTCAGGGAGAATCC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation