Incidental Mutation 'R2519:Morc3'
| ID |
254262 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Morc3
|
| Ensembl Gene |
ENSMUSG00000039456 |
| Gene Name |
microrchidia 3 |
| Synonyms |
Zcwcc3, D16Jhu32e, 1110051N18Rik, 1110051N18Rik |
| MMRRC Submission |
040423-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2519 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
93629009-93672961 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 93659427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044068]
[ENSMUST00000201097]
[ENSMUST00000201754]
[ENSMUST00000202261]
|
| AlphaFold |
F7BJB9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044068
|
| SMART Domains |
Protein: ENSMUSP00000040152
Gene: ENSMUSG00000039456
| 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 null
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 null
Transcript: ENSMUST00000202261
|
| SMART Domains |
Protein: ENSMUSP00000144369
Gene: ENSMUSG00000039456
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
99% (72/73) |
| 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 |
|---|
| 4933408J17Rik |
G |
A |
10: 93,425,450 (GRCm39) |
|
probably benign |
Het |
| Abtb3 |
T |
A |
10: 85,487,475 (GRCm39) |
V981D |
probably damaging |
Het |
| Actn1 |
A |
T |
12: 80,239,163 (GRCm39) |
H247Q |
probably damaging |
Het |
| Adgre1 |
T |
C |
17: 57,717,956 (GRCm39) |
C323R |
probably damaging |
Het |
| Adgrf2 |
T |
A |
17: 43,021,298 (GRCm39) |
I509F |
probably damaging |
Het |
| Aknad1 |
A |
T |
3: 108,663,784 (GRCm39) |
T331S |
probably damaging |
Het |
| Aldh1a3 |
T |
C |
7: 66,072,047 (GRCm39) |
D39G |
probably benign |
Het |
| Alms1 |
C |
A |
6: 85,644,945 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
T |
G |
18: 36,711,596 (GRCm39) |
|
probably null |
Het |
| Arfgef2 |
T |
C |
2: 166,723,164 (GRCm39) |
S1535P |
probably benign |
Het |
| Bicc1 |
T |
C |
10: 70,766,474 (GRCm39) |
E916G |
probably damaging |
Het |
| Birc2 |
A |
T |
9: 7,821,180 (GRCm39) |
D381E |
possibly damaging |
Het |
| Carnmt1 |
A |
G |
19: 18,671,075 (GRCm39) |
I316V |
probably benign |
Het |
| Cdk2ap1rt |
A |
G |
11: 48,716,950 (GRCm39) |
I76T |
probably damaging |
Het |
| Chd6 |
T |
A |
2: 160,871,796 (GRCm39) |
Y213F |
possibly damaging |
Het |
| Coq7 |
A |
T |
7: 118,109,371 (GRCm39) |
W226R |
unknown |
Het |
| Cyp2d9 |
G |
A |
15: 82,338,719 (GRCm39) |
|
probably null |
Het |
| Ddx42 |
T |
A |
11: 106,136,155 (GRCm39) |
N635K |
probably damaging |
Het |
| Dmtf1 |
T |
C |
5: 9,179,323 (GRCm39) |
T292A |
possibly damaging |
Het |
| Dnajb8 |
T |
C |
6: 88,199,857 (GRCm39) |
V131A |
probably benign |
Het |
| Dock6 |
T |
C |
9: 21,727,629 (GRCm39) |
E1367G |
possibly damaging |
Het |
| Dvl1 |
T |
A |
4: 155,940,000 (GRCm39) |
Y377* |
probably null |
Het |
| Eif4g3 |
T |
A |
4: 137,824,629 (GRCm39) |
F278Y |
probably benign |
Het |
| Fancg |
A |
T |
4: 43,008,787 (GRCm39) |
L150H |
probably damaging |
Het |
| Fastkd5 |
T |
C |
2: 130,458,114 (GRCm39) |
T159A |
possibly damaging |
Het |
| Fkrp |
G |
T |
7: 16,544,877 (GRCm39) |
Y328* |
probably null |
Het |
| Fmo3 |
A |
T |
1: 162,785,874 (GRCm39) |
V372D |
probably damaging |
Het |
| Gsta5 |
T |
G |
9: 78,211,721 (GRCm39) |
L161R |
probably damaging |
Het |
| Gtf2h4 |
C |
A |
17: 35,981,801 (GRCm39) |
G143W |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,649,571 (GRCm39) |
Y638* |
probably null |
Het |
| Ighv11-2 |
T |
A |
12: 114,011,912 (GRCm39) |
Q101L |
probably damaging |
Het |
| Lgalsl2 |
A |
T |
7: 5,362,833 (GRCm39) |
I155F |
probably damaging |
Het |
| Lipf |
G |
T |
19: 33,942,925 (GRCm39) |
V78L |
probably damaging |
Het |
| Magi3 |
T |
C |
3: 103,923,081 (GRCm39) |
E1212G |
probably benign |
Het |
| Mfap5 |
T |
C |
6: 122,502,948 (GRCm39) |
S75P |
probably damaging |
Het |
| Mn1 |
C |
A |
5: 111,566,418 (GRCm39) |
H129Q |
possibly damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Myo5c |
A |
G |
9: 75,157,718 (GRCm39) |
I224V |
probably damaging |
Het |
| Nup58 |
T |
C |
14: 60,460,808 (GRCm39) |
T486A |
probably benign |
Het |
| Or5m13b |
A |
G |
2: 85,753,951 (GRCm39) |
Y113C |
probably damaging |
Het |
| Or8b46 |
T |
A |
9: 38,450,281 (GRCm39) |
V30D |
probably damaging |
Het |
| Parp14 |
A |
T |
16: 35,678,573 (GRCm39) |
L465Q |
possibly damaging |
Het |
| Pcare |
C |
T |
17: 72,058,642 (GRCm39) |
S345N |
probably damaging |
Het |
| Plcd3 |
A |
T |
11: 102,971,226 (GRCm39) |
I110N |
possibly damaging |
Het |
| Prx |
A |
G |
7: 27,217,668 (GRCm39) |
E862G |
probably benign |
Het |
| Rad50 |
G |
A |
11: 53,598,012 (GRCm39) |
|
probably benign |
Het |
| Rbm15 |
A |
G |
3: 107,238,149 (GRCm39) |
S750P |
probably benign |
Het |
| Reln |
C |
A |
5: 22,549,367 (GRCm39) |
A14S |
unknown |
Het |
| Rph3a |
T |
C |
5: 121,092,485 (GRCm39) |
Y372C |
probably damaging |
Het |
| Serpine2 |
T |
A |
1: 79,777,256 (GRCm39) |
H187L |
possibly damaging |
Het |
| Slc11a2 |
T |
C |
15: 100,299,204 (GRCm39) |
D122G |
probably damaging |
Het |
| Slc25a32 |
A |
T |
15: 38,959,450 (GRCm39) |
V289E |
probably damaging |
Het |
| Slc25a46 |
A |
T |
18: 31,735,814 (GRCm39) |
S142T |
probably benign |
Het |
| Srm |
A |
G |
4: 148,675,961 (GRCm39) |
|
probably null |
Het |
| Srsf5 |
A |
G |
12: 80,995,870 (GRCm39) |
D123G |
probably damaging |
Het |
| Stab1 |
A |
T |
14: 30,876,829 (GRCm39) |
C832S |
probably damaging |
Het |
| Stab2 |
A |
C |
10: 86,770,704 (GRCm39) |
|
probably benign |
Het |
| Suds3 |
T |
C |
5: 117,233,018 (GRCm39) |
N282S |
probably damaging |
Het |
| Taar9 |
A |
T |
10: 23,985,152 (GRCm39) |
V94E |
probably damaging |
Het |
| Taf2 |
C |
A |
15: 54,915,643 (GRCm39) |
A428S |
probably benign |
Het |
| Tbk1 |
G |
T |
10: 121,393,164 (GRCm39) |
T462K |
probably benign |
Het |
| Tcaf2 |
T |
G |
6: 42,606,365 (GRCm39) |
I530L |
possibly damaging |
Het |
| Tigd4 |
A |
G |
3: 84,501,221 (GRCm39) |
Y46C |
probably damaging |
Het |
| Topors |
G |
T |
4: 40,261,714 (GRCm39) |
Y523* |
probably null |
Het |
| Tpte |
T |
C |
8: 22,823,176 (GRCm39) |
|
probably benign |
Het |
| Trpv5 |
T |
A |
6: 41,651,284 (GRCm39) |
Q254L |
probably damaging |
Het |
| Trpv6 |
G |
A |
6: 41,601,550 (GRCm39) |
Q457* |
probably null |
Het |
| Ush2a |
A |
T |
1: 187,999,304 (GRCm39) |
M205L |
probably benign |
Het |
| Vmn1r90 |
A |
T |
7: 14,295,643 (GRCm39) |
Y152N |
probably damaging |
Het |
| Vmn2r124 |
T |
A |
17: 18,294,280 (GRCm39) |
V789D |
probably damaging |
Het |
| Vmn2r99 |
T |
C |
17: 19,598,970 (GRCm39) |
I218T |
probably damaging |
Het |
| Vstm2b |
T |
C |
7: 40,552,299 (GRCm39) |
V248A |
probably benign |
Het |
| Wnk2 |
T |
C |
13: 49,224,505 (GRCm39) |
K1019E |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
| Zfp229 |
T |
A |
17: 21,964,568 (GRCm39) |
F266Y |
possibly damaging |
Het |
| Zfp616 |
T |
A |
11: 73,975,094 (GRCm39) |
C454* |
probably null |
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 |
|
|
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 |
|
|
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'- TGGTGTGTGACTTAACTCCTGAAAG -3'
(R):5'- GGTCTGGACATCACTTTTCACC -3'
Sequencing Primer
(F):5'- GTGTGACTTAACTCCTGAAAGTTACC -3'
(R):5'- GCACAACACTCACGTCTTTTTATAGG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation