Incidental Mutation 'IGL01684:Mau2'
ID |
103913 |
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 # |
IGL01684
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
70468773-70495384 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 70481895 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148532
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050561]
[ENSMUST00000168013]
[ENSMUST00000212308]
[ENSMUST00000212451]
[ENSMUST00000212845]
|
AlphaFold |
Q9D2X5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050561
|
SMART Domains |
Protein: ENSMUSP00000054763 Gene: ENSMUSG00000031858
Domain | Start | End | E-Value | Type |
Pfam:Cohesin_load
|
29 |
575 |
5e-131 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168013
|
SMART Domains |
Protein: ENSMUSP00000131966 Gene: ENSMUSG00000031858
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 |
probably benign
Transcript: ENSMUST00000212308
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212401
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212451
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212596
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ammecr1l |
G |
T |
18: 31,904,821 (GRCm39) |
V21F |
probably damaging |
Het |
Aox1 |
G |
A |
1: 58,116,740 (GRCm39) |
|
probably null |
Het |
BC024139 |
A |
G |
15: 76,008,885 (GRCm39) |
L283P |
probably damaging |
Het |
Cacna1h |
C |
T |
17: 25,607,690 (GRCm39) |
G876S |
probably damaging |
Het |
Ccdc66 |
T |
C |
14: 27,222,206 (GRCm39) |
E179G |
possibly damaging |
Het |
Ckap5 |
T |
G |
2: 91,385,699 (GRCm39) |
D182E |
probably benign |
Het |
Clk1 |
A |
G |
1: 58,456,424 (GRCm39) |
|
probably null |
Het |
Dhx34 |
G |
A |
7: 15,937,204 (GRCm39) |
T831M |
probably damaging |
Het |
Enox1 |
T |
C |
14: 77,816,533 (GRCm39) |
I171T |
possibly damaging |
Het |
Fscn2 |
G |
A |
11: 120,258,131 (GRCm39) |
R351H |
probably damaging |
Het |
Gabbr2 |
G |
A |
4: 46,736,501 (GRCm39) |
S460L |
probably benign |
Het |
Gramd1a |
A |
G |
7: 30,838,330 (GRCm39) |
S308P |
possibly damaging |
Het |
Guca1a |
T |
C |
17: 47,706,068 (GRCm39) |
D137G |
probably null |
Het |
Heatr5a |
G |
A |
12: 52,002,294 (GRCm39) |
T214I |
probably benign |
Het |
Klf7 |
T |
C |
1: 64,160,051 (GRCm39) |
|
probably benign |
Het |
Macf1 |
A |
G |
4: 123,359,723 (GRCm39) |
S1854P |
probably damaging |
Het |
Mdn1 |
A |
G |
4: 32,726,857 (GRCm39) |
I2639V |
probably benign |
Het |
Mylk |
A |
G |
16: 34,792,310 (GRCm39) |
M1544V |
possibly damaging |
Het |
Ogdh |
G |
T |
11: 6,292,546 (GRCm39) |
V420L |
probably damaging |
Het |
Or13a21 |
T |
C |
7: 139,998,828 (GRCm39) |
N286S |
probably damaging |
Het |
Or5b105 |
A |
G |
19: 13,080,353 (GRCm39) |
F105S |
possibly damaging |
Het |
Pcm1 |
A |
G |
8: 41,710,960 (GRCm39) |
T77A |
probably benign |
Het |
Piezo2 |
T |
A |
18: 63,216,241 (GRCm39) |
I947F |
probably damaging |
Het |
Prrc2c |
A |
T |
1: 162,534,031 (GRCm39) |
|
probably benign |
Het |
Ptch2 |
A |
G |
4: 116,961,984 (GRCm39) |
E107G |
probably damaging |
Het |
Rmdn3 |
T |
C |
2: 118,978,055 (GRCm39) |
E182G |
probably damaging |
Het |
Rpl23a-ps3 |
C |
T |
14: 33,892,745 (GRCm39) |
|
noncoding transcript |
Het |
Sorl1 |
T |
C |
9: 41,892,007 (GRCm39) |
D1881G |
probably damaging |
Het |
Tbc1d19 |
A |
G |
5: 54,014,221 (GRCm39) |
N283S |
probably benign |
Het |
Tcf20 |
A |
G |
15: 82,741,361 (GRCm39) |
F30S |
probably damaging |
Het |
Tiparp |
A |
T |
3: 65,460,754 (GRCm39) |
K581I |
probably damaging |
Het |
Tle3 |
T |
C |
9: 61,310,728 (GRCm39) |
|
probably benign |
Het |
Ubr3 |
C |
A |
2: 69,846,502 (GRCm39) |
Y1608* |
probably null |
Het |
Vmn1r59 |
T |
C |
7: 5,457,299 (GRCm39) |
T154A |
probably benign |
Het |
Vta1 |
A |
G |
10: 14,559,875 (GRCm39) |
I115T |
probably damaging |
Het |
Wwtr1 |
C |
A |
3: 57,483,210 (GRCm39) |
R31L |
probably damaging |
Het |
Zfp385b |
T |
C |
2: 77,550,019 (GRCm39) |
D22G |
possibly damaging |
Het |
Zfp516 |
A |
G |
18: 82,975,326 (GRCm39) |
E508G |
probably damaging |
Het |
Zfp735 |
T |
A |
11: 73,581,191 (GRCm39) |
V76E |
possibly damaging |
Het |
|
Other mutations in Mau2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02353:Mau2
|
APN |
8 |
70,472,288 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2014-01-21 |