Incidental Mutation 'IGL02353:Mau2'
| ID |
289571 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mau2
|
| Ensembl Gene |
ENSMUSG00000031858 |
| Gene Name |
MAU2 sister chromatid cohesion factor |
| Synonyms |
A930019L04Rik, 9130404D08Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02353
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
70468773-70495384 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 70472288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 602
(V602E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054763
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050561]
[ENSMUST00000168013]
[ENSMUST00000212308]
[ENSMUST00000212451]
[ENSMUST00000212845]
|
| AlphaFold |
Q9D2X5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050561
AA Change: V602E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000054763
Gene: ENSMUSG00000031858
AA Change: V602E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cohesin_load
|
29 |
575 |
5e-131 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168013
AA Change: V603E
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131966
Gene: ENSMUSG00000031858
AA Change: V603E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cohesin_load
|
29 |
576 |
8.7e-130 |
PFAM |
|
Pfam:TPR_8
|
71 |
105 |
3.3e-4 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212055
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212308
AA Change: C601S
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212401
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212451
AA Change: V603E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212845
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality during organogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh18a1 |
A |
T |
19: 40,566,364 (GRCm39) |
V102D |
probably damaging |
Het |
| Car4 |
C |
T |
11: 84,856,593 (GRCm39) |
P294S |
probably damaging |
Het |
| Casp6 |
C |
T |
3: 129,704,175 (GRCm39) |
S87L |
probably damaging |
Het |
| Ccdc121rt1 |
T |
C |
1: 181,338,190 (GRCm39) |
E254G |
possibly damaging |
Het |
| Ccnl1 |
A |
C |
3: 65,856,141 (GRCm39) |
C255G |
probably damaging |
Het |
| Celf4 |
T |
C |
18: 25,619,955 (GRCm39) |
I485M |
probably damaging |
Het |
| Cntln |
A |
G |
4: 84,968,087 (GRCm39) |
R769G |
probably damaging |
Het |
| Cstdc1 |
A |
G |
2: 148,625,387 (GRCm39) |
|
probably benign |
Het |
| Cyp2d12 |
T |
C |
15: 82,443,171 (GRCm39) |
V360A |
probably benign |
Het |
| Dgki |
T |
C |
6: 36,824,324 (GRCm39) |
E1068G |
probably damaging |
Het |
| Fbxl4 |
A |
G |
4: 22,433,684 (GRCm39) |
N607S |
probably benign |
Het |
| Fgd4 |
T |
C |
16: 16,279,909 (GRCm39) |
I383V |
probably damaging |
Het |
| Fgd6 |
C |
T |
10: 93,974,258 (GRCm39) |
T1333I |
possibly damaging |
Het |
| Got1 |
A |
G |
19: 43,512,882 (GRCm39) |
S5P |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,764,560 (GRCm39) |
N995K |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,641,681 (GRCm39) |
F159S |
probably damaging |
Het |
| Krt87 |
T |
C |
15: 101,383,339 (GRCm39) |
S456G |
probably benign |
Het |
| Lhb |
T |
C |
7: 45,070,718 (GRCm39) |
V32A |
possibly damaging |
Het |
| Mpst |
C |
T |
15: 78,294,285 (GRCm39) |
L6F |
probably damaging |
Het |
| Nlrp2 |
G |
A |
7: 5,340,598 (GRCm39) |
T72I |
probably damaging |
Het |
| Or8g20 |
A |
G |
9: 39,396,444 (GRCm39) |
I32T |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,569,142 (GRCm39) |
Y1239C |
probably damaging |
Het |
| Slc22a8 |
T |
C |
19: 8,585,619 (GRCm39) |
F328S |
possibly damaging |
Het |
| Spns1 |
C |
T |
7: 125,974,312 (GRCm39) |
R94Q |
probably damaging |
Het |
| Sult2a3 |
G |
A |
7: 13,855,575 (GRCm39) |
R94* |
probably null |
Het |
| Syt16 |
A |
G |
12: 74,176,245 (GRCm39) |
N38S |
probably damaging |
Het |
| Tbc1d1 |
G |
A |
5: 64,414,179 (GRCm39) |
R180Q |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,460,635 (GRCm39) |
I2632T |
probably benign |
Het |
| Vcam1 |
T |
A |
3: 115,909,543 (GRCm39) |
I595F |
possibly damaging |
Het |
|
| Other mutations in Mau2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01684:Mau2
|
APN |
8 |
70,481,895 (GRCm39) |
splice site |
probably benign |
|
|
IGL02360:Mau2
|
APN |
8 |
70,472,288 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02990:Mau2
|
APN |
8 |
70,474,905 (GRCm39) |
splice site |
probably benign |
|
|
PIT4382001:Mau2
|
UTSW |
8 |
70,483,302 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0378:Mau2
|
UTSW |
8 |
70,483,305 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0556:Mau2
|
UTSW |
8 |
70,495,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0558:Mau2
|
UTSW |
8 |
70,495,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0731:Mau2
|
UTSW |
8 |
70,476,262 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0987:Mau2
|
UTSW |
8 |
70,480,348 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1866:Mau2
|
UTSW |
8 |
70,484,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2857:Mau2
|
UTSW |
8 |
70,472,474 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4852:Mau2
|
UTSW |
8 |
70,485,827 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4893:Mau2
|
UTSW |
8 |
70,483,290 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4970:Mau2
|
UTSW |
8 |
70,480,353 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5004:Mau2
|
UTSW |
8 |
70,478,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5012:Mau2
|
UTSW |
8 |
70,484,107 (GRCm39) |
splice site |
probably null |
|
|
R5248:Mau2
|
UTSW |
8 |
70,481,373 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6150:Mau2
|
UTSW |
8 |
70,472,487 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6178:Mau2
|
UTSW |
8 |
70,495,187 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6343:Mau2
|
UTSW |
8 |
70,484,173 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6649:Mau2
|
UTSW |
8 |
70,484,166 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6838:Mau2
|
UTSW |
8 |
70,491,947 (GRCm39) |
splice site |
probably null |
|
|
R6959:Mau2
|
UTSW |
8 |
70,485,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7365:Mau2
|
UTSW |
8 |
70,481,884 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7747:Mau2
|
UTSW |
8 |
70,479,373 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8039:Mau2
|
UTSW |
8 |
70,472,440 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8222:Mau2
|
UTSW |
8 |
70,485,827 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8350:Mau2
|
UTSW |
8 |
70,495,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8782:Mau2
|
UTSW |
8 |
70,485,845 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9145:Mau2
|
UTSW |
8 |
70,480,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9514:Mau2
|
UTSW |
8 |
70,480,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9515:Mau2
|
UTSW |
8 |
70,480,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation