Incidental Mutation 'IGL02130:Mbd3l1'
| ID |
281009 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mbd3l1
|
| Ensembl Gene |
ENSMUSG00000038691 |
| Gene Name |
methyl-CpG binding domain protein 3-like 1 |
| Synonyms |
1700070G05Rik, Mbd3l, 1700095H13Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02130
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
18389655-18396594 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 18396023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 49
(R49S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069218]
[ENSMUST00000213625]
[ENSMUST00000215255]
|
| AlphaFold |
Q9D9H3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069218
AA Change: R49S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063957
Gene: ENSMUSG00000038691
AA Change: R49S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MBDa
|
3 |
74 |
8.5e-31 |
PFAM |
|
Pfam:MBD_C
|
78 |
166 |
1.2e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213625
AA Change: R49S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215255
AA Change: R49S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding domain. The protein is localized to discrete areas in the nucleus, and expression appears to be restricted to round spermatids, suggesting that the protein plays a role in the postmeiotic stages of male germ cell development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn7l1 |
A |
T |
12: 33,392,141 (GRCm39) |
K239M |
probably damaging |
Het |
| Cep164 |
T |
C |
9: 45,691,090 (GRCm39) |
E1230G |
possibly damaging |
Het |
| Fas |
A |
G |
19: 34,292,695 (GRCm39) |
T101A |
probably benign |
Het |
| Fcnb |
A |
G |
2: 27,974,801 (GRCm39) |
|
probably null |
Het |
| Gm14325 |
A |
G |
2: 177,476,445 (GRCm39) |
|
probably benign |
Het |
| Gm4877 |
A |
T |
6: 42,496,991 (GRCm39) |
|
noncoding transcript |
Het |
| Heyl |
T |
C |
4: 123,140,064 (GRCm39) |
S208P |
probably benign |
Het |
| Ighv10-3 |
A |
T |
12: 114,487,121 (GRCm39) |
L100H |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,267,188 (GRCm39) |
S343G |
probably damaging |
Het |
| Lrriq4 |
T |
A |
3: 30,704,896 (GRCm39) |
V293E |
probably damaging |
Het |
| Mdga1 |
A |
G |
17: 30,076,643 (GRCm39) |
I43T |
possibly damaging |
Het |
| N4bp3 |
T |
C |
11: 51,534,773 (GRCm39) |
E430G |
possibly damaging |
Het |
| Olfml3 |
A |
G |
3: 103,644,283 (GRCm39) |
Y129H |
probably benign |
Het |
| Or4c125 |
C |
A |
2: 89,169,927 (GRCm39) |
V240F |
probably damaging |
Het |
| Or8b12i |
A |
G |
9: 20,082,654 (GRCm39) |
I71T |
probably damaging |
Het |
| Prex2 |
T |
C |
1: 11,183,023 (GRCm39) |
V424A |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,230,386 (GRCm39) |
V804E |
probably damaging |
Het |
| Rnf103 |
T |
C |
6: 71,486,548 (GRCm39) |
L393S |
probably damaging |
Het |
| Rnf20 |
T |
C |
4: 49,644,481 (GRCm39) |
|
probably benign |
Het |
| Slc25a16 |
A |
G |
10: 62,780,137 (GRCm39) |
I299V |
probably benign |
Het |
| Tmprss2 |
A |
T |
16: 97,392,089 (GRCm39) |
C5S |
probably damaging |
Het |
| Trpv3 |
A |
C |
11: 73,170,596 (GRCm39) |
M159L |
probably benign |
Het |
| Vmn2r45 |
A |
T |
7: 8,486,556 (GRCm39) |
M244K |
possibly damaging |
Het |
|
| Other mutations in Mbd3l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0011:Mbd3l1
|
UTSW |
9 |
18,395,863 (GRCm39) |
start gained |
probably benign |
|
|
R0015:Mbd3l1
|
UTSW |
9 |
18,396,154 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1571:Mbd3l1
|
UTSW |
9 |
18,395,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1737:Mbd3l1
|
UTSW |
9 |
18,396,225 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1762:Mbd3l1
|
UTSW |
9 |
18,396,435 (GRCm39) |
makesense |
probably null |
|
|
R4981:Mbd3l1
|
UTSW |
9 |
18,396,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5171:Mbd3l1
|
UTSW |
9 |
18,396,430 (GRCm39) |
missense |
probably benign |
|
|
R5244:Mbd3l1
|
UTSW |
9 |
18,395,933 (GRCm39) |
nonsense |
probably null |
|
|
R6582:Mbd3l1
|
UTSW |
9 |
18,396,024 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7109:Mbd3l1
|
UTSW |
9 |
18,396,210 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7319:Mbd3l1
|
UTSW |
9 |
18,396,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8308:Mbd3l1
|
UTSW |
9 |
18,395,886 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8317:Mbd3l1
|
UTSW |
9 |
18,396,117 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9487:Mbd3l1
|
UTSW |
9 |
18,396,274 (GRCm39) |
missense |
probably benign |
0.40 |
|
RF014:Mbd3l1
|
UTSW |
9 |
18,396,296 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
| Posted On |
2015-04-16 |
Incidental Mutation