Incidental Mutation 'R5012:Mau2'
| ID |
390575 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mau2
|
| Ensembl Gene |
ENSMUSG00000031858 |
| Gene Name |
MAU2 sister chromatid cohesion factor |
| Synonyms |
A930019L04Rik, 9130404D08Rik |
| MMRRC Submission |
042603-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5012 (G1)
|
| Quality Score |
147 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
70468773-70495384 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 70484107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148601
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050561]
[ENSMUST00000050561]
[ENSMUST00000168013]
[ENSMUST00000168013]
[ENSMUST00000212308]
[ENSMUST00000212308]
[ENSMUST00000212451]
[ENSMUST00000212451]
[ENSMUST00000212845]
|
| AlphaFold |
Q9D2X5 |
| Predicted Effect |
probably null
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 null
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 null
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 |
probably null
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 null
Transcript: ENSMUST00000212308
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212308
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212401
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212451
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212451
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212596
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212845
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 90.9%
|
| Validation Efficiency |
98% (45/46) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
C |
A |
19: 3,767,217 (GRCm39) |
T268K |
possibly damaging |
Het |
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Acsl1 |
A |
G |
8: 46,974,468 (GRCm39) |
S314G |
probably benign |
Het |
| Aftph |
G |
A |
11: 20,648,264 (GRCm39) |
|
probably benign |
Het |
| Ankrd34c |
T |
G |
9: 89,611,709 (GRCm39) |
I211L |
probably benign |
Het |
| Anks1b |
A |
G |
10: 90,194,999 (GRCm39) |
T560A |
probably benign |
Het |
| Carmil1 |
G |
T |
13: 24,208,403 (GRCm39) |
S1247R |
possibly damaging |
Het |
| Elf1 |
T |
A |
14: 79,808,174 (GRCm39) |
Y172N |
probably damaging |
Het |
| Emx1 |
C |
T |
6: 85,180,955 (GRCm39) |
P224L |
probably benign |
Het |
| Fastkd2 |
A |
T |
1: 63,789,055 (GRCm39) |
|
probably benign |
Het |
| Fbxw27 |
C |
A |
9: 109,602,271 (GRCm39) |
C234F |
probably benign |
Het |
| Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
| Igkv6-23 |
C |
A |
6: 70,237,529 (GRCm39) |
A71S |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,226,143 (GRCm39) |
L2510P |
probably damaging |
Het |
| Itgal |
T |
C |
7: 126,898,802 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
C |
A |
5: 25,504,710 (GRCm39) |
G122* |
probably null |
Het |
| Lamtor2 |
C |
T |
3: 88,460,163 (GRCm39) |
R3H |
possibly damaging |
Het |
| Magi2 |
A |
T |
5: 20,670,618 (GRCm39) |
T321S |
probably damaging |
Het |
| Mcm7 |
A |
T |
5: 138,167,609 (GRCm39) |
|
probably null |
Het |
| Mitd1 |
A |
T |
1: 37,924,374 (GRCm39) |
C59S |
probably benign |
Het |
| Muc6 |
A |
G |
7: 141,216,570 (GRCm39) |
L2636P |
possibly damaging |
Het |
| Paip1 |
A |
G |
13: 119,584,338 (GRCm39) |
M233V |
probably benign |
Het |
| Pcdhb11 |
C |
A |
18: 37,556,029 (GRCm39) |
T453N |
possibly damaging |
Het |
| Plcb1 |
A |
G |
2: 135,175,320 (GRCm39) |
N545S |
probably null |
Het |
| Prl8a9 |
A |
T |
13: 27,746,594 (GRCm39) |
|
probably null |
Het |
| Psmc2 |
A |
G |
5: 22,007,563 (GRCm39) |
T308A |
probably benign |
Het |
| Rassf2 |
C |
A |
2: 131,851,610 (GRCm39) |
R44L |
probably damaging |
Het |
| Scn11a |
A |
T |
9: 119,609,944 (GRCm39) |
M968K |
probably benign |
Het |
| Septin4 |
T |
A |
11: 87,475,230 (GRCm39) |
S146T |
possibly damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,137,127 (GRCm39) |
I260T |
probably benign |
Het |
| Steap2 |
G |
C |
5: 5,727,784 (GRCm39) |
L184V |
possibly damaging |
Het |
| Ttll5 |
G |
A |
12: 85,973,618 (GRCm39) |
E776K |
possibly damaging |
Het |
| Vipr1 |
A |
T |
9: 121,487,111 (GRCm39) |
|
probably null |
Het |
| Yars2 |
T |
C |
16: 16,121,448 (GRCm39) |
S201P |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,022,864 (GRCm39) |
I194K |
probably benign |
Het |
| Zfp988 |
A |
G |
4: 147,416,060 (GRCm39) |
I165V |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGACAGATGGCCAGGTCAG -3'
(R):5'- CTGCTGTATCAGGGGTTCAG -3'
Sequencing Primer
(F):5'- TCAGGGGCAGGTAAACATCAGC -3'
(R):5'- CAGGGGTTCAGTTTGATTGCTAGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation