Incidental Mutation 'R4609:Morc3'
| ID |
344549 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Morc3
|
| Ensembl Gene |
ENSMUSG00000039456 |
| Gene Name |
microrchidia 3 |
| Synonyms |
Zcwcc3, D16Jhu32e, 1110051N18Rik, 1110051N18Rik |
| MMRRC Submission |
041820-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4609 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
93629009-93672961 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93661856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 472
(E472G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044068]
[ENSMUST00000201097]
[ENSMUST00000201754]
[ENSMUST00000202261]
|
| AlphaFold |
F7BJB9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044068
AA Change: E472G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000040152
Gene: ENSMUSG00000039456
AA Change: E472G
| 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 benign
Transcript: ENSMUST00000201097
|
| SMART Domains |
Protein: ENSMUSP00000144058
Gene: ENSMUSG00000039456
| 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 benign
Transcript: ENSMUST00000201754
|
| SMART Domains |
Protein: ENSMUSP00000144357
Gene: ENSMUSG00000039456
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HATPase_c
|
25 |
91 |
1.3e-6 |
PFAM |
|
Pfam:HATPase_c_3
|
26 |
92 |
1.2e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202261
AA Change: E472G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000144369
Gene: ENSMUSG00000039456
AA Change: E472G
| 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
|
| Meta Mutation Damage Score |
0.0634 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
99% (78/79) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 7530416G11Rik |
T |
C |
15: 85,378,370 (GRCm39) |
D91G |
unknown |
Het |
| Adam10 |
T |
C |
9: 70,647,425 (GRCm39) |
Y42H |
probably damaging |
Het |
| Baiap3 |
A |
T |
17: 25,469,235 (GRCm39) |
C183S |
probably damaging |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Bmp1 |
C |
T |
14: 70,715,406 (GRCm39) |
V910M |
probably benign |
Het |
| Brdt |
G |
A |
5: 107,507,802 (GRCm39) |
A677T |
probably benign |
Het |
| Cadps2 |
A |
T |
6: 23,587,578 (GRCm39) |
M304K |
probably damaging |
Het |
| Car9 |
A |
T |
4: 43,507,267 (GRCm39) |
D71V |
possibly damaging |
Het |
| Chml |
A |
T |
1: 175,514,723 (GRCm39) |
Y399* |
probably null |
Het |
| Cilk1 |
T |
A |
9: 78,075,071 (GRCm39) |
|
probably benign |
Het |
| Clasp1 |
A |
G |
1: 118,430,765 (GRCm39) |
|
probably benign |
Het |
| Cntnap5b |
G |
A |
1: 99,700,572 (GRCm39) |
|
probably null |
Het |
| Cpvl |
A |
T |
6: 53,951,605 (GRCm39) |
|
probably null |
Het |
| Crocc2 |
G |
A |
1: 93,096,516 (GRCm39) |
V24M |
possibly damaging |
Het |
| Cxcl16 |
T |
C |
11: 70,346,255 (GRCm39) |
Y226C |
probably damaging |
Het |
| Dio3 |
G |
T |
12: 110,246,444 (GRCm39) |
R260L |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,353,796 (GRCm39) |
L724P |
probably damaging |
Het |
| Dnah7a |
A |
C |
1: 53,495,816 (GRCm39) |
F3214V |
possibly damaging |
Het |
| Dpy19l4 |
A |
T |
4: 11,295,999 (GRCm39) |
Y223* |
probably null |
Het |
| Dpysl4 |
T |
C |
7: 138,678,537 (GRCm39) |
V499A |
probably damaging |
Het |
| Ets2 |
A |
T |
16: 95,512,818 (GRCm39) |
K101N |
probably benign |
Het |
| Fbn2 |
A |
T |
18: 58,323,341 (GRCm39) |
Y200* |
probably null |
Het |
| Fem1c |
A |
T |
18: 46,639,015 (GRCm39) |
I329N |
probably damaging |
Het |
| Fhip1b |
A |
G |
7: 105,037,431 (GRCm39) |
I384T |
probably damaging |
Het |
| Gm8919 |
T |
C |
3: 11,724,530 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Q5 |
A |
T |
17: 35,616,056 (GRCm39) |
H206L |
probably benign |
Het |
| Hexa |
T |
C |
9: 59,464,602 (GRCm39) |
F164S |
probably benign |
Het |
| Hk1 |
G |
T |
10: 62,194,194 (GRCm39) |
|
probably benign |
Het |
| Itih4 |
G |
A |
14: 30,623,626 (GRCm39) |
G915R |
probably damaging |
Het |
| Kcnq5 |
A |
T |
1: 21,475,292 (GRCm39) |
|
probably null |
Het |
| Krtap10-4 |
A |
T |
10: 77,662,630 (GRCm39) |
|
probably benign |
Het |
| Maml3 |
G |
T |
3: 51,763,013 (GRCm39) |
H650Q |
probably damaging |
Het |
| Mief1 |
C |
A |
15: 80,132,454 (GRCm39) |
P112Q |
probably benign |
Het |
| Nap1l1 |
T |
A |
10: 111,328,741 (GRCm39) |
Y223* |
probably null |
Het |
| Nfix |
A |
T |
8: 85,453,119 (GRCm39) |
W312R |
probably damaging |
Het |
| Nfkbie |
A |
T |
17: 45,869,510 (GRCm39) |
N155I |
probably damaging |
Het |
| Nlgn2 |
A |
T |
11: 69,724,912 (GRCm39) |
M118K |
probably damaging |
Het |
| Nlrp5 |
A |
T |
7: 23,117,173 (GRCm39) |
Y299F |
probably benign |
Het |
| Nnt |
T |
C |
13: 119,494,072 (GRCm39) |
I556V |
possibly damaging |
Het |
| Oasl2 |
A |
T |
5: 115,037,857 (GRCm39) |
I85F |
possibly damaging |
Het |
| Ogg1 |
A |
C |
6: 113,305,393 (GRCm39) |
T69P |
probably damaging |
Het |
| Olfml2a |
G |
T |
2: 38,847,733 (GRCm39) |
V431L |
probably damaging |
Het |
| Or4d5 |
T |
C |
9: 40,012,102 (GRCm39) |
H228R |
possibly damaging |
Het |
| Or5p79 |
A |
T |
7: 108,221,711 (GRCm39) |
M231L |
probably benign |
Het |
| Palb2 |
G |
T |
7: 121,723,946 (GRCm39) |
A601E |
probably benign |
Het |
| Pcdhb20 |
G |
A |
18: 37,638,849 (GRCm39) |
M458I |
probably benign |
Het |
| Pde11a |
T |
C |
2: 76,121,585 (GRCm39) |
D332G |
possibly damaging |
Het |
| Pkd1l1 |
C |
T |
11: 8,908,964 (GRCm39) |
E347K |
unknown |
Het |
| Pou2af1 |
G |
A |
9: 51,149,525 (GRCm39) |
V206I |
possibly damaging |
Het |
| Prr16 |
A |
G |
18: 51,251,139 (GRCm39) |
D46G |
possibly damaging |
Het |
| Pus1 |
A |
G |
5: 110,928,184 (GRCm39) |
M1T |
probably null |
Het |
| Pygm |
T |
A |
19: 6,441,439 (GRCm39) |
V566D |
possibly damaging |
Het |
| Rb1 |
T |
A |
14: 73,499,954 (GRCm39) |
|
probably benign |
Het |
| Rhoj |
A |
T |
12: 75,446,980 (GRCm39) |
K200* |
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,328,521 (GRCm39) |
I1985V |
possibly damaging |
Het |
| Septin11 |
G |
T |
5: 93,310,113 (GRCm39) |
M305I |
possibly damaging |
Het |
| Setdb2 |
T |
C |
14: 59,653,153 (GRCm39) |
Y383C |
probably damaging |
Het |
| Sfpq |
G |
C |
4: 126,915,404 (GRCm39) |
Q65H |
unknown |
Het |
| Skic8 |
A |
G |
9: 54,635,463 (GRCm39) |
V46A |
probably benign |
Het |
| Stard3nl |
G |
T |
13: 19,554,434 (GRCm39) |
A180E |
probably damaging |
Het |
| Tanc2 |
A |
G |
11: 105,801,066 (GRCm39) |
N1094S |
probably benign |
Het |
| Trf |
C |
T |
9: 103,089,184 (GRCm39) |
A554T |
possibly damaging |
Het |
| Trmt13 |
T |
C |
3: 116,388,476 (GRCm39) |
|
probably benign |
Het |
| Tubb3 |
A |
G |
8: 124,147,658 (GRCm39) |
D197G |
probably damaging |
Het |
| Ube2e3 |
A |
G |
2: 78,749,056 (GRCm39) |
H135R |
probably damaging |
Het |
| Ugt1a10 |
A |
T |
1: 87,983,204 (GRCm39) |
M1L |
possibly damaging |
Het |
| Vmn1r233 |
A |
T |
17: 21,214,677 (GRCm39) |
I91N |
possibly damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,655,531 (GRCm39) |
D580V |
probably damaging |
Het |
| Vps33b |
A |
G |
7: 79,940,866 (GRCm39) |
Y593C |
probably benign |
Het |
| Wdr19 |
A |
G |
5: 65,385,885 (GRCm39) |
T622A |
possibly damaging |
Het |
| Wdr3 |
C |
T |
3: 100,047,516 (GRCm39) |
R853Q |
probably damaging |
Het |
| Xirp1 |
T |
C |
9: 119,845,572 (GRCm39) |
T1104A |
probably benign |
Het |
| Yipf1 |
G |
A |
4: 107,201,880 (GRCm39) |
|
probably null |
Het |
| Zbtb17 |
A |
G |
4: 141,193,809 (GRCm39) |
D651G |
probably damaging |
Het |
| Zbtb42 |
C |
T |
12: 112,646,976 (GRCm39) |
R384W |
probably damaging |
Het |
| Zbtb43 |
A |
T |
2: 33,344,055 (GRCm39) |
M390K |
probably benign |
Het |
| Zfp462 |
C |
T |
4: 55,011,889 (GRCm39) |
T1285M |
probably damaging |
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 |
|
|
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 |
|
|
R4945:Morc3
|
UTSW |
16 |
93,668,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GCGCTTCTCCATAGTCTAAATGC -3'
(R):5'- ACAGTCTAAGAAGTTGTTGGGC -3'
Sequencing Primer
(F):5'- GTCTAAATGCTCACAGTGATGACG -3'
(R):5'- CTAAGAAGTTGTTGGGCTAGGATGAC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation