Incidental Mutation 'R4945:Morc3'
ID |
381336 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Morc3
|
Ensembl Gene |
ENSMUSG00000039456 |
Gene Name |
microrchidia 3 |
Synonyms |
Zcwcc3, D16Jhu32e, 1110051N18Rik, 1110051N18Rik |
MMRRC Submission |
042542-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4945 (G1)
|
Quality Score |
188 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
93629009-93672961 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 93668082 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 820
(D820V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144369
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044068]
[ENSMUST00000201097]
[ENSMUST00000202261]
|
AlphaFold |
F7BJB9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044068
AA Change: D820V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040152 Gene: ENSMUSG00000039456 AA Change: D820V
Domain | Start | End | E-Value | Type |
Pfam:HATPase_c
|
25 |
130 |
8e-8 |
PFAM |
Pfam:HATPase_c_3
|
26 |
164 |
1.1e-18 |
PFAM |
Pfam:zf-CW
|
409 |
452 |
2.7e-19 |
PFAM |
low complexity region
|
461 |
472 |
N/A |
INTRINSIC |
low complexity region
|
630 |
639 |
N/A |
INTRINSIC |
coiled coil region
|
765 |
871 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000201097
AA Change: D747V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144058 Gene: ENSMUSG00000039456 AA Change: D747V
Domain | Start | End | E-Value | Type |
Blast:HATPase_c
|
1 |
70 |
4e-39 |
BLAST |
Pfam:zf-CW
|
340 |
383 |
1.2e-16 |
PFAM |
low complexity region
|
392 |
403 |
N/A |
INTRINSIC |
low complexity region
|
557 |
566 |
N/A |
INTRINSIC |
coiled coil region
|
692 |
798 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000202261
AA Change: D820V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144369 Gene: ENSMUSG00000039456 AA Change: D820V
Domain | Start | End | E-Value | Type |
Pfam:HATPase_c
|
25 |
130 |
8e-8 |
PFAM |
Pfam:HATPase_c_3
|
26 |
164 |
1.1e-18 |
PFAM |
Pfam:zf-CW
|
409 |
452 |
2.7e-19 |
PFAM |
low complexity region
|
461 |
472 |
N/A |
INTRINSIC |
low complexity region
|
630 |
639 |
N/A |
INTRINSIC |
coiled coil region
|
765 |
871 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232425
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232639
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that localizes to the nuclear matrix and forms nuclear bodies via an ATP-dependent mechanism. The protein is predicted to have coiled-coil and zinc finger domains and has RNA binding activity. Alternative splicing produces multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2016] PHENOTYPE: Mice homozygous for a null allele die at or within a day of birth. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts13 |
G |
A |
2: 26,876,622 (GRCm39) |
R512H |
probably damaging |
Het |
Adgrl2 |
T |
A |
3: 148,528,672 (GRCm39) |
M1158L |
probably damaging |
Het |
Adgrl3 |
C |
A |
5: 81,659,895 (GRCm39) |
H153Q |
probably damaging |
Het |
Aldh1a2 |
C |
A |
9: 71,123,198 (GRCm39) |
Q24K |
probably benign |
Het |
Atp1b1 |
A |
G |
1: 164,265,867 (GRCm39) |
V298A |
probably damaging |
Het |
Casp8ap2 |
T |
A |
4: 32,631,163 (GRCm39) |
N74K |
possibly damaging |
Het |
Cep135 |
A |
G |
5: 76,745,275 (GRCm39) |
D229G |
probably benign |
Het |
Cerk |
C |
G |
15: 86,040,802 (GRCm39) |
D186H |
probably benign |
Het |
Cmtr2 |
T |
C |
8: 110,948,065 (GRCm39) |
F125S |
probably damaging |
Het |
Col6a1 |
A |
G |
10: 76,548,106 (GRCm39) |
V650A |
unknown |
Het |
Cuzd1 |
A |
G |
7: 130,918,350 (GRCm39) |
F196L |
probably damaging |
Het |
Esm1 |
T |
G |
13: 113,346,679 (GRCm39) |
|
probably null |
Het |
Fbn2 |
T |
A |
18: 58,183,325 (GRCm39) |
I1787F |
possibly damaging |
Het |
Gm1110 |
T |
C |
9: 26,831,891 (GRCm39) |
M87V |
possibly damaging |
Het |
Gpr179 |
T |
C |
11: 97,240,544 (GRCm39) |
H293R |
probably damaging |
Het |
Grk2 |
A |
G |
19: 4,340,475 (GRCm39) |
I302T |
probably damaging |
Het |
Hoxb6 |
A |
G |
11: 96,190,085 (GRCm39) |
Y28C |
possibly damaging |
Het |
Ift27 |
A |
G |
15: 78,048,454 (GRCm39) |
V110A |
probably damaging |
Het |
Igfbp7 |
T |
C |
5: 77,499,104 (GRCm39) |
D267G |
probably benign |
Het |
Ighv1-49 |
C |
A |
12: 115,019,028 (GRCm39) |
V56L |
possibly damaging |
Het |
Ighv8-8 |
C |
T |
12: 115,257,881 (GRCm39) |
M53I |
probably benign |
Het |
Kcnj3 |
T |
A |
2: 55,327,590 (GRCm39) |
N126K |
probably damaging |
Het |
Kif12 |
C |
T |
4: 63,086,730 (GRCm39) |
|
probably null |
Het |
Lrif1 |
A |
C |
3: 106,643,069 (GRCm39) |
I725L |
probably damaging |
Het |
Lrrk2 |
T |
C |
15: 91,689,123 (GRCm39) |
V2265A |
probably benign |
Het |
Med25 |
T |
C |
7: 44,532,526 (GRCm39) |
N438S |
possibly damaging |
Het |
Mex3b |
A |
T |
7: 82,519,382 (GRCm39) |
T566S |
probably benign |
Het |
Mkx |
T |
C |
18: 7,000,657 (GRCm39) |
N95S |
possibly damaging |
Het |
Mroh4 |
G |
T |
15: 74,483,857 (GRCm39) |
N562K |
probably benign |
Het |
Ndst3 |
A |
T |
3: 123,346,201 (GRCm39) |
I276N |
probably damaging |
Het |
Notch2 |
A |
G |
3: 98,019,037 (GRCm39) |
N733S |
probably benign |
Het |
Or10a5 |
A |
T |
7: 106,635,526 (GRCm39) |
M55L |
probably benign |
Het |
Or2l13b |
C |
A |
16: 19,349,307 (GRCm39) |
R121L |
probably benign |
Het |
Or51k1 |
G |
A |
7: 103,661,585 (GRCm39) |
T108I |
possibly damaging |
Het |
Or5ak24 |
T |
C |
2: 85,260,895 (GRCm39) |
T93A |
probably benign |
Het |
Or5m13 |
T |
A |
2: 85,748,917 (GRCm39) |
I216N |
possibly damaging |
Het |
Or8b38 |
G |
T |
9: 37,973,068 (GRCm39) |
G151C |
probably damaging |
Het |
Or8b44 |
A |
T |
9: 38,410,585 (GRCm39) |
I207F |
probably damaging |
Het |
Or8k37 |
T |
C |
2: 86,469,833 (GRCm39) |
Y73C |
probably damaging |
Het |
Patj |
A |
T |
4: 98,383,301 (GRCm39) |
N268Y |
probably damaging |
Het |
Pbrm1 |
T |
A |
14: 30,774,173 (GRCm39) |
D446E |
probably damaging |
Het |
Pcdhga11 |
A |
G |
18: 37,891,085 (GRCm39) |
T698A |
probably benign |
Het |
Pde6a |
T |
C |
18: 61,367,790 (GRCm39) |
V266A |
probably damaging |
Het |
Phax |
G |
T |
18: 56,709,063 (GRCm39) |
R209L |
probably damaging |
Het |
Pld2 |
T |
A |
11: 70,446,524 (GRCm39) |
M20K |
probably damaging |
Het |
Rabl3 |
T |
C |
16: 37,362,220 (GRCm39) |
S20P |
probably damaging |
Het |
Rad51 |
T |
A |
2: 118,957,629 (GRCm39) |
V174E |
probably damaging |
Het |
Rb1cc1 |
A |
G |
1: 6,319,851 (GRCm39) |
E1090G |
probably benign |
Het |
Rfc3 |
T |
C |
5: 151,566,450 (GRCm39) |
E333G |
probably damaging |
Het |
Rfx6 |
T |
G |
10: 51,602,947 (GRCm39) |
Y821* |
probably null |
Het |
Riok3 |
A |
G |
18: 12,261,972 (GRCm39) |
D2G |
probably damaging |
Het |
Rtn1 |
G |
T |
12: 72,264,258 (GRCm39) |
A183E |
probably damaging |
Het |
Skint8 |
T |
C |
4: 111,796,805 (GRCm39) |
L303P |
probably damaging |
Het |
Slc36a2 |
C |
A |
11: 55,065,520 (GRCm39) |
V162L |
probably benign |
Het |
Sorcs3 |
T |
C |
19: 48,752,587 (GRCm39) |
V794A |
possibly damaging |
Het |
Sspo |
A |
G |
6: 48,444,021 (GRCm39) |
|
probably null |
Het |
Tbk1 |
T |
C |
10: 121,387,174 (GRCm39) |
N707S |
probably damaging |
Het |
Tchhl1 |
A |
T |
3: 93,378,883 (GRCm39) |
H529L |
probably benign |
Het |
Tgfbr2 |
A |
T |
9: 115,960,633 (GRCm39) |
H106Q |
probably benign |
Het |
Trim8 |
A |
G |
19: 46,491,214 (GRCm39) |
E111G |
probably benign |
Het |
Tshz2 |
A |
G |
2: 169,725,794 (GRCm39) |
Y130C |
probably damaging |
Het |
Txndc15 |
T |
A |
13: 55,865,978 (GRCm39) |
D147E |
probably benign |
Het |
Vmn1r172 |
T |
A |
7: 23,359,745 (GRCm39) |
L210H |
possibly damaging |
Het |
Vmn1r55 |
A |
G |
7: 5,150,105 (GRCm39) |
V106A |
probably damaging |
Het |
Vmn2r49 |
T |
A |
7: 9,720,214 (GRCm39) |
K426* |
probably null |
Het |
Wnk2 |
C |
T |
13: 49,210,722 (GRCm39) |
R206Q |
probably damaging |
Het |
Zfp1007 |
A |
T |
5: 109,824,941 (GRCm39) |
C170S |
possibly damaging |
Het |
Zfp473 |
T |
C |
7: 44,383,988 (GRCm39) |
N115S |
probably benign |
Het |
Zfp536 |
G |
T |
7: 37,269,161 (GRCm39) |
A85D |
probably damaging |
Het |
Zfp853 |
C |
A |
5: 143,274,584 (GRCm39) |
Q345H |
unknown |
Het |
|
Other mutations in Morc3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00561:Morc3
|
APN |
16 |
93,670,283 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01015:Morc3
|
APN |
16 |
93,659,534 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01374:Morc3
|
APN |
16 |
93,641,101 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01634:Morc3
|
APN |
16 |
93,670,125 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01845:Morc3
|
APN |
16 |
93,657,455 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02202:Morc3
|
APN |
16 |
93,667,749 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02478:Morc3
|
APN |
16 |
93,661,844 (GRCm39) |
splice site |
probably benign |
|
IGL03026:Morc3
|
APN |
16 |
93,659,612 (GRCm39) |
splice site |
probably benign |
|
IGL03115:Morc3
|
APN |
16 |
93,667,971 (GRCm39) |
missense |
probably damaging |
0.99 |
Ballista
|
UTSW |
16 |
93,638,271 (GRCm39) |
missense |
probably damaging |
1.00 |
mindy
|
UTSW |
16 |
93,663,421 (GRCm39) |
missense |
probably benign |
0.03 |
Pfaff
|
UTSW |
16 |
93,659,572 (GRCm39) |
missense |
probably damaging |
0.96 |
shield
|
UTSW |
16 |
93,671,700 (GRCm39) |
missense |
probably damaging |
0.98 |
sparkle
|
UTSW |
16 |
93,667,362 (GRCm39) |
missense |
probably damaging |
1.00 |
Stooges
|
UTSW |
16 |
93,638,275 (GRCm39) |
missense |
probably damaging |
1.00 |
Sword
|
UTSW |
16 |
93,671,645 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0173:Morc3
|
UTSW |
16 |
93,629,094 (GRCm39) |
splice site |
probably null |
|
R0413:Morc3
|
UTSW |
16 |
93,667,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R0639:Morc3
|
UTSW |
16 |
93,650,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R0842:Morc3
|
UTSW |
16 |
93,670,284 (GRCm39) |
critical splice donor site |
probably null |
|
R1134:Morc3
|
UTSW |
16 |
93,667,557 (GRCm39) |
missense |
probably benign |
|
R1162:Morc3
|
UTSW |
16 |
93,649,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R1498:Morc3
|
UTSW |
16 |
93,650,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R1520:Morc3
|
UTSW |
16 |
93,641,129 (GRCm39) |
missense |
probably damaging |
0.96 |
R1603:Morc3
|
UTSW |
16 |
93,663,391 (GRCm39) |
missense |
probably benign |
|
R1622:Morc3
|
UTSW |
16 |
93,671,694 (GRCm39) |
missense |
probably benign |
0.28 |
R1630:Morc3
|
UTSW |
16 |
93,663,421 (GRCm39) |
missense |
probably benign |
0.03 |
R1818:Morc3
|
UTSW |
16 |
93,652,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R1902:Morc3
|
UTSW |
16 |
93,667,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R2090:Morc3
|
UTSW |
16 |
93,663,341 (GRCm39) |
missense |
probably benign |
0.23 |
R2261:Morc3
|
UTSW |
16 |
93,650,109 (GRCm39) |
splice site |
probably benign |
|
R2360:Morc3
|
UTSW |
16 |
93,638,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R2407:Morc3
|
UTSW |
16 |
93,641,215 (GRCm39) |
critical splice donor site |
probably null |
|
R2519:Morc3
|
UTSW |
16 |
93,659,427 (GRCm39) |
splice site |
probably null |
|
R3736:Morc3
|
UTSW |
16 |
93,671,700 (GRCm39) |
missense |
probably damaging |
0.98 |
R3873:Morc3
|
UTSW |
16 |
93,659,324 (GRCm39) |
missense |
probably damaging |
0.99 |
R4114:Morc3
|
UTSW |
16 |
93,670,227 (GRCm39) |
missense |
probably benign |
0.01 |
R4115:Morc3
|
UTSW |
16 |
93,670,227 (GRCm39) |
missense |
probably benign |
0.01 |
R4116:Morc3
|
UTSW |
16 |
93,670,227 (GRCm39) |
missense |
probably benign |
0.01 |
R4472:Morc3
|
UTSW |
16 |
93,671,645 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4609:Morc3
|
UTSW |
16 |
93,661,856 (GRCm39) |
missense |
probably benign |
0.01 |
R4708:Morc3
|
UTSW |
16 |
93,670,126 (GRCm39) |
missense |
probably benign |
0.19 |
R4883:Morc3
|
UTSW |
16 |
93,667,250 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4965:Morc3
|
UTSW |
16 |
93,657,475 (GRCm39) |
nonsense |
probably null |
|
R5399:Morc3
|
UTSW |
16 |
93,659,427 (GRCm39) |
splice site |
probably null |
|
R5481:Morc3
|
UTSW |
16 |
93,659,543 (GRCm39) |
missense |
probably damaging |
0.99 |
R5540:Morc3
|
UTSW |
16 |
93,644,268 (GRCm39) |
missense |
probably benign |
|
R5970:Morc3
|
UTSW |
16 |
93,663,341 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6006:Morc3
|
UTSW |
16 |
93,663,381 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6044:Morc3
|
UTSW |
16 |
93,663,330 (GRCm39) |
missense |
probably benign |
0.02 |
R6045:Morc3
|
UTSW |
16 |
93,671,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R6155:Morc3
|
UTSW |
16 |
93,659,313 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6165:Morc3
|
UTSW |
16 |
93,638,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R6225:Morc3
|
UTSW |
16 |
93,642,082 (GRCm39) |
nonsense |
probably null |
|
R6240:Morc3
|
UTSW |
16 |
93,659,572 (GRCm39) |
missense |
probably damaging |
0.96 |
R6835:Morc3
|
UTSW |
16 |
93,644,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R6918:Morc3
|
UTSW |
16 |
93,650,023 (GRCm39) |
missense |
probably benign |
0.36 |
R6944:Morc3
|
UTSW |
16 |
93,667,460 (GRCm39) |
missense |
probably benign |
|
R7311:Morc3
|
UTSW |
16 |
93,646,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R7398:Morc3
|
UTSW |
16 |
93,671,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R7553:Morc3
|
UTSW |
16 |
93,667,824 (GRCm39) |
missense |
probably damaging |
0.98 |
R8056:Morc3
|
UTSW |
16 |
93,642,064 (GRCm39) |
missense |
probably benign |
0.07 |
R8299:Morc3
|
UTSW |
16 |
93,650,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R8317:Morc3
|
UTSW |
16 |
93,659,417 (GRCm39) |
missense |
probably benign |
0.25 |
R8542:Morc3
|
UTSW |
16 |
93,644,319 (GRCm39) |
critical splice donor site |
probably null |
|
R8697:Morc3
|
UTSW |
16 |
93,667,908 (GRCm39) |
missense |
probably benign |
0.00 |
R8739:Morc3
|
UTSW |
16 |
93,657,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R9072:Morc3
|
UTSW |
16 |
93,667,482 (GRCm39) |
missense |
probably benign |
0.00 |
R9235:Morc3
|
UTSW |
16 |
93,659,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R9305:Morc3
|
UTSW |
16 |
93,667,302 (GRCm39) |
missense |
probably benign |
0.00 |
R9405:Morc3
|
UTSW |
16 |
93,642,036 (GRCm39) |
missense |
probably damaging |
1.00 |
R9431:Morc3
|
UTSW |
16 |
93,667,771 (GRCm39) |
nonsense |
probably null |
|
R9440:Morc3
|
UTSW |
16 |
93,649,975 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9524:Morc3
|
UTSW |
16 |
93,667,401 (GRCm39) |
missense |
probably benign |
0.09 |
R9571:Morc3
|
UTSW |
16 |
93,641,107 (GRCm39) |
missense |
possibly damaging |
0.89 |
X0023:Morc3
|
UTSW |
16 |
93,644,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGCCACCAGTCTACTGAAAC -3'
(R):5'- CGGGACCAATTTTAGACACTTTTAC -3'
Sequencing Primer
(F):5'- CTGAAACTGACGCAGTGTTTCTAC -3'
(R):5'- AGTCCTACTCCCCAGTTA -3'
|
Posted On |
2016-04-27 |