Incidental Mutation 'R6178:Mau2'
ID |
514477 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mau2
|
Ensembl Gene |
ENSMUSG00000031858 |
Gene Name |
MAU2 sister chromatid cohesion factor |
Synonyms |
A930019L04Rik, 9130404D08Rik |
MMRRC Submission |
044320-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6178 (G1)
|
Quality Score |
65.0073 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
70468773-70495384 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 70495187 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 50
(I50T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148532
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011450]
[ENSMUST00000050561]
[ENSMUST00000168013]
[ENSMUST00000212308]
[ENSMUST00000212451]
[ENSMUST00000212845]
|
AlphaFold |
Q9D2X5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000011450
|
SMART Domains |
Protein: ENSMUSP00000011450 Gene: ENSMUSG00000011306
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
67 |
N/A |
INTRINSIC |
low complexity region
|
88 |
97 |
N/A |
INTRINSIC |
SWAP
|
185 |
239 |
8e-20 |
SMART |
SWAP
|
260 |
314 |
4.09e-17 |
SMART |
low complexity region
|
344 |
365 |
N/A |
INTRINSIC |
low complexity region
|
439 |
452 |
N/A |
INTRINSIC |
G_patch
|
558 |
605 |
3.25e-17 |
SMART |
low complexity region
|
628 |
643 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050561
AA Change: I50T
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000054763 Gene: ENSMUSG00000031858 AA Change: I50T
Domain | Start | End | E-Value | Type |
Pfam:Cohesin_load
|
29 |
575 |
5e-131 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168013
AA Change: I50T
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000131966 Gene: ENSMUSG00000031858 AA Change: I50T
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: ENSMUST00000211808
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212055
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212308
AA Change: I50T
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212451
AA Change: I50T
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212845
AA Change: I50T
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212401
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213035
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.0%
|
Validation Efficiency |
98% (54/55) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
T |
C |
7: 45,678,468 (GRCm39) |
I61V |
probably benign |
Het |
Afg3l2 |
G |
A |
18: 67,542,598 (GRCm39) |
T616I |
possibly damaging |
Het |
Aktip |
T |
C |
8: 91,852,671 (GRCm39) |
N195S |
probably damaging |
Het |
Ankfy1 |
G |
A |
11: 72,645,285 (GRCm39) |
C788Y |
probably benign |
Het |
Atg7 |
T |
A |
6: 114,701,856 (GRCm39) |
I621N |
probably damaging |
Het |
Becn1 |
T |
A |
11: 101,182,336 (GRCm39) |
I283F |
probably damaging |
Het |
Btnl12 |
T |
C |
16: 37,676,422 (GRCm39) |
Y115C |
probably damaging |
Het |
C4b |
T |
C |
17: 34,952,380 (GRCm39) |
T1220A |
probably benign |
Het |
Celsr1 |
C |
A |
15: 85,785,222 (GRCm39) |
R3004M |
probably benign |
Het |
Clspn |
A |
T |
4: 126,471,529 (GRCm39) |
|
probably null |
Het |
Csmd3 |
T |
C |
15: 48,536,854 (GRCm39) |
Y116C |
probably damaging |
Het |
Dcp1a |
T |
G |
14: 30,245,261 (GRCm39) |
*603G |
probably null |
Het |
Dmrtc1b |
C |
T |
X: 101,757,169 (GRCm39) |
P205S |
possibly damaging |
Het |
Fev |
G |
T |
1: 74,923,698 (GRCm39) |
|
probably benign |
Het |
Fry |
T |
A |
5: 150,377,987 (GRCm39) |
V393E |
probably damaging |
Het |
Gm30646 |
A |
G |
7: 30,132,081 (GRCm39) |
|
probably null |
Het |
Gm3676 |
C |
T |
14: 41,363,452 (GRCm39) |
E175K |
probably benign |
Het |
Gm4847 |
T |
C |
1: 166,469,905 (GRCm39) |
Y56C |
probably damaging |
Het |
Gm5422 |
T |
C |
10: 31,125,688 (GRCm39) |
|
noncoding transcript |
Het |
Gstm6 |
A |
G |
3: 107,848,397 (GRCm39) |
V174A |
probably benign |
Het |
Isoc1 |
G |
T |
18: 58,804,664 (GRCm39) |
V191F |
possibly damaging |
Het |
Kalrn |
T |
A |
16: 33,874,009 (GRCm39) |
D132V |
possibly damaging |
Het |
Kcp |
T |
C |
6: 29,482,887 (GRCm39) |
D1394G |
possibly damaging |
Het |
Marchf10 |
T |
G |
11: 105,280,440 (GRCm39) |
D615A |
probably damaging |
Het |
Mgp |
A |
G |
6: 136,849,722 (GRCm39) |
C79R |
probably damaging |
Het |
Mpdz |
T |
A |
4: 81,226,602 (GRCm39) |
K1344N |
probably damaging |
Het |
Mrgpre |
T |
A |
7: 143,334,708 (GRCm39) |
Y265F |
possibly damaging |
Het |
Mro |
G |
A |
18: 74,006,295 (GRCm39) |
V80M |
possibly damaging |
Het |
Mrpl44 |
G |
T |
1: 79,755,895 (GRCm39) |
C167F |
possibly damaging |
Het |
Muc5b |
A |
G |
7: 141,410,079 (GRCm39) |
M1218V |
probably null |
Het |
Naa16 |
T |
C |
14: 79,620,780 (GRCm39) |
I100V |
possibly damaging |
Het |
Nup205 |
A |
T |
6: 35,220,778 (GRCm39) |
Y1860F |
possibly damaging |
Het |
Or10aa3 |
A |
T |
1: 173,878,533 (GRCm39) |
Y198F |
probably benign |
Het |
Or14c40 |
A |
G |
7: 86,313,819 (GRCm39) |
I316M |
probably benign |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or4c103 |
T |
C |
2: 88,513,977 (GRCm39) |
Y33C |
probably damaging |
Het |
Plcb3 |
A |
G |
19: 6,932,071 (GRCm39) |
|
probably null |
Het |
Pnpla3 |
G |
A |
15: 84,065,132 (GRCm39) |
A309T |
probably benign |
Het |
Ranbp10 |
A |
G |
8: 106,498,296 (GRCm39) |
S624P |
possibly damaging |
Het |
Ripor2 |
T |
C |
13: 24,894,113 (GRCm39) |
S714P |
possibly damaging |
Het |
Robo4 |
C |
T |
9: 37,316,926 (GRCm39) |
Q414* |
probably null |
Het |
Shc2 |
A |
G |
10: 79,465,954 (GRCm39) |
I161T |
probably damaging |
Het |
Slc35b2 |
C |
T |
17: 45,877,302 (GRCm39) |
T143I |
probably benign |
Het |
Slc39a13 |
T |
C |
2: 90,898,880 (GRCm39) |
D77G |
probably damaging |
Het |
Snx6 |
A |
C |
12: 54,807,249 (GRCm39) |
D243E |
probably damaging |
Het |
Taar8b |
A |
G |
10: 23,967,711 (GRCm39) |
V161A |
probably benign |
Het |
Tbr1 |
T |
A |
2: 61,635,159 (GRCm39) |
D36E |
possibly damaging |
Het |
Tdpoz2 |
T |
C |
3: 93,559,618 (GRCm39) |
N118S |
probably benign |
Het |
Tgfb1i1 |
T |
C |
7: 127,852,517 (GRCm39) |
F478L |
probably damaging |
Het |
Tmprss11f |
T |
C |
5: 86,704,837 (GRCm39) |
D27G |
probably benign |
Het |
Trim30d |
T |
G |
7: 104,137,202 (GRCm39) |
M1L |
probably damaging |
Het |
Trpm7 |
A |
G |
2: 126,679,301 (GRCm39) |
V420A |
probably damaging |
Het |
Ubap2 |
G |
T |
4: 41,206,981 (GRCm39) |
P199H |
probably benign |
Het |
Ubash3b |
T |
C |
9: 40,926,212 (GRCm39) |
T512A |
probably damaging |
Het |
Zfp65 |
G |
A |
13: 67,858,437 (GRCm39) |
P76S |
probably benign |
Het |
Zic5 |
A |
T |
14: 122,696,748 (GRCm39) |
H622Q |
unknown |
Het |
Zpld1 |
A |
T |
16: 55,053,993 (GRCm39) |
N266K |
probably damaging |
Het |
Zswim1 |
A |
G |
2: 164,667,972 (GRCm39) |
|
probably null |
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 |
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'- AGCTGAAGAGGGACAACTTTCC -3'
(R):5'- AGACCCAGAAGTCCTTGCGTAG -3'
Sequencing Primer
(F):5'- GGGACAACTTTCCCGGTTC -3'
(R):5'- TCTCGCGAGAATTGCGG -3'
|
Posted On |
2018-05-04 |