Incidental Mutation 'R6343:Mau2'
| ID |
514007 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mau2
|
| Ensembl Gene |
ENSMUSG00000031858 |
| Gene Name |
MAU2 sister chromatid cohesion factor |
| Synonyms |
A930019L04Rik, 9130404D08Rik |
| MMRRC Submission |
044497-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6343 (G1)
|
| Quality Score |
218.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
70468773-70495384 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 70484173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 138
(K138N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148532
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050561]
[ENSMUST00000168013]
[ENSMUST00000212308]
[ENSMUST00000212451]
[ENSMUST00000212845]
|
| AlphaFold |
Q9D2X5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050561
AA Change: K138N
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000054763
Gene: ENSMUSG00000031858
AA Change: K138N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cohesin_load
|
29 |
575 |
5e-131 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168013
AA Change: K138N
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131966
Gene: ENSMUSG00000031858
AA Change: K138N
| 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 damaging
Transcript: ENSMUST00000212308
AA Change: K138N
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212401
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212451
AA Change: K138N
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212596
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212845
AA Change: K138N
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (51/51) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
T |
11: 110,205,378 (GRCm39) |
L301Q |
probably damaging |
Het |
| Adgrl4 |
T |
C |
3: 151,223,443 (GRCm39) |
L632P |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,527,562 (GRCm39) |
I539N |
probably benign |
Het |
| Camta1 |
T |
A |
4: 151,164,306 (GRCm39) |
H314L |
probably damaging |
Het |
| Car2 |
T |
C |
3: 14,953,025 (GRCm39) |
S56P |
probably damaging |
Het |
| Chrm5 |
G |
A |
2: 112,309,793 (GRCm39) |
A441V |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,426,819 (GRCm39) |
N1380K |
possibly damaging |
Het |
| Cspg4 |
T |
C |
9: 56,799,976 (GRCm39) |
V1580A |
probably benign |
Het |
| Dcc |
A |
G |
18: 71,469,106 (GRCm39) |
L1099P |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Epha5 |
A |
T |
5: 84,254,606 (GRCm39) |
H644Q |
probably damaging |
Het |
| Eya3 |
T |
C |
4: 132,400,221 (GRCm39) |
I80T |
probably damaging |
Het |
| Fdft1 |
A |
T |
14: 63,388,721 (GRCm39) |
Y304N |
probably damaging |
Het |
| Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
| Gpatch2l |
T |
A |
12: 86,307,379 (GRCm39) |
Y252* |
probably null |
Het |
| Hivep1 |
G |
T |
13: 42,313,147 (GRCm39) |
G1796* |
probably null |
Het |
| Irf8 |
T |
C |
8: 121,480,446 (GRCm39) |
V228A |
probably damaging |
Het |
| Islr |
A |
C |
9: 58,064,379 (GRCm39) |
V376G |
probably damaging |
Het |
| Kdm5a |
T |
C |
6: 120,359,894 (GRCm39) |
V230A |
probably benign |
Het |
| Lpgat1 |
A |
G |
1: 191,508,684 (GRCm39) |
|
probably null |
Het |
| Lrp8 |
T |
C |
4: 107,726,353 (GRCm39) |
|
probably null |
Het |
| Lyzl4 |
A |
C |
9: 121,407,150 (GRCm39) |
S127A |
possibly damaging |
Het |
| Map4k1 |
T |
C |
7: 28,699,715 (GRCm39) |
V606A |
possibly damaging |
Het |
| Meikin |
T |
C |
11: 54,261,592 (GRCm39) |
L33P |
probably damaging |
Het |
| Mrpl28 |
T |
C |
17: 26,345,252 (GRCm39) |
V224A |
probably benign |
Het |
| Ncdn |
T |
C |
4: 126,640,964 (GRCm39) |
D512G |
possibly damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,303,925 (GRCm39) |
Q200L |
possibly damaging |
Het |
| Nup98 |
T |
C |
7: 101,843,957 (GRCm39) |
N89S |
possibly damaging |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or14a258 |
T |
A |
7: 86,035,059 (GRCm39) |
R270* |
probably null |
Het |
| Or52p2 |
A |
G |
7: 102,237,753 (GRCm39) |
C66R |
probably damaging |
Het |
| Or5b12 |
G |
T |
19: 12,896,946 (GRCm39) |
H242Q |
probably damaging |
Het |
| Or6c201 |
A |
T |
10: 128,969,535 (GRCm39) |
L34* |
probably null |
Het |
| Padi3 |
C |
T |
4: 140,530,819 (GRCm39) |
V68I |
possibly damaging |
Het |
| Pign |
A |
T |
1: 105,512,820 (GRCm39) |
M621K |
probably benign |
Het |
| Pigv |
C |
T |
4: 133,392,547 (GRCm39) |
V208M |
probably damaging |
Het |
| Ripk4 |
A |
G |
16: 97,564,726 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
A |
G |
7: 97,310,124 (GRCm39) |
K285E |
probably benign |
Het |
| Serpina3k |
G |
C |
12: 104,311,562 (GRCm39) |
G380A |
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,365,426 (GRCm39) |
|
probably null |
Het |
| Srrd |
G |
C |
5: 112,487,866 (GRCm39) |
A104G |
probably benign |
Het |
| Tbp |
T |
A |
17: 15,721,351 (GRCm39) |
|
probably null |
Het |
| Tecrl |
G |
A |
5: 83,442,447 (GRCm39) |
H209Y |
probably damaging |
Het |
| Tmprss11c |
A |
G |
5: 86,404,204 (GRCm39) |
L157P |
probably damaging |
Het |
| Tmprss13 |
A |
T |
9: 45,254,498 (GRCm39) |
T422S |
possibly damaging |
Het |
| Ttll5 |
A |
G |
12: 86,003,473 (GRCm39) |
H1103R |
probably benign |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,223,049 (GRCm39) |
Y699C |
probably damaging |
Het |
| Vmn1r22 |
T |
G |
6: 57,877,563 (GRCm39) |
N138T |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATTCAGGTGCCCAAGGAAGAG -3'
(R):5'- AGTGACCAAGATGGGGCTTG -3'
Sequencing Primer
(F):5'- TGCCCAAGGAAGAGGTGCAG -3'
(R):5'- CTGTATCAGGGGTTCAGTT -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation