Incidental Mutation 'R7311:Morc3'
ID |
567628 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Morc3
|
Ensembl Gene |
ENSMUSG00000039456 |
Gene Name |
microrchidia 3 |
Synonyms |
Zcwcc3, D16Jhu32e, 1110051N18Rik, 1110051N18Rik |
MMRRC Submission |
045367-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7311 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
93629009-93672961 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 93646061 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 218
(D218N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144369
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044068]
[ENSMUST00000201097]
[ENSMUST00000201754]
[ENSMUST00000202261]
|
AlphaFold |
F7BJB9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044068
AA Change: D218N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040152 Gene: ENSMUSG00000039456 AA Change: D218N
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: D147N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144058 Gene: ENSMUSG00000039456 AA Change: D147N
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 damaging
Transcript: ENSMUST00000202261
AA Change: D218N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144369 Gene: ENSMUSG00000039456 AA Change: D218N
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001K19Rik |
A |
G |
12: 110,635,184 (GRCm39) |
V118A |
probably benign |
Het |
Accsl |
C |
T |
2: 93,696,160 (GRCm39) |
G146D |
possibly damaging |
Het |
Acsm1 |
A |
T |
7: 119,237,305 (GRCm39) |
H206L |
probably damaging |
Het |
Acta2 |
A |
G |
19: 34,219,186 (GRCm39) |
Y339H |
probably damaging |
Het |
Adcy2 |
T |
C |
13: 68,779,073 (GRCm39) |
D989G |
probably damaging |
Het |
Ahnak |
G |
A |
19: 8,979,507 (GRCm39) |
A264T |
probably benign |
Het |
Ahnak |
A |
G |
19: 8,987,191 (GRCm39) |
D2825G |
possibly damaging |
Het |
Akt1 |
G |
T |
12: 112,623,587 (GRCm39) |
T291K |
probably damaging |
Het |
Arhgap24 |
A |
G |
5: 103,040,551 (GRCm39) |
D589G |
probably damaging |
Het |
B4galnt3 |
G |
A |
6: 120,192,396 (GRCm39) |
Q447* |
probably null |
Het |
BC024063 |
C |
T |
10: 81,945,993 (GRCm39) |
R538C |
possibly damaging |
Het |
Bod1l |
A |
G |
5: 41,951,676 (GRCm39) |
S2912P |
possibly damaging |
Het |
Bysl |
A |
G |
17: 47,912,710 (GRCm39) |
V360A |
possibly damaging |
Het |
C1qb |
A |
G |
4: 136,607,877 (GRCm39) |
V162A |
possibly damaging |
Het |
Ccdc57 |
G |
A |
11: 120,764,567 (GRCm39) |
P736L |
probably benign |
Het |
Cep290 |
T |
A |
10: 100,373,580 (GRCm39) |
F1287I |
probably damaging |
Het |
Cntn1 |
T |
C |
15: 92,130,156 (GRCm39) |
|
probably null |
Het |
Col6a3 |
C |
T |
1: 90,750,013 (GRCm39) |
G274R |
probably damaging |
Het |
Cplane1 |
G |
T |
15: 8,210,399 (GRCm39) |
V291F |
probably damaging |
Het |
Cyb5r4 |
T |
C |
9: 86,937,835 (GRCm39) |
C285R |
probably damaging |
Het |
Cyp4f39 |
G |
A |
17: 32,708,629 (GRCm39) |
C392Y |
probably damaging |
Het |
Dcun1d3 |
A |
T |
7: 119,458,734 (GRCm39) |
D100E |
probably damaging |
Het |
Dhx58 |
A |
T |
11: 100,588,997 (GRCm39) |
D516E |
probably benign |
Het |
Dock5 |
T |
A |
14: 68,065,951 (GRCm39) |
I351F |
probably benign |
Het |
Elmod2 |
A |
C |
8: 84,046,041 (GRCm39) |
|
probably null |
Het |
Endov |
G |
A |
11: 119,398,077 (GRCm39) |
A281T |
probably benign |
Het |
Epyc |
A |
G |
10: 97,485,562 (GRCm39) |
M1V |
probably null |
Het |
Espnl |
T |
A |
1: 91,251,290 (GRCm39) |
H128Q |
probably damaging |
Het |
Fam20a |
A |
T |
11: 109,565,454 (GRCm39) |
C452* |
probably null |
Het |
Fam241b |
A |
G |
10: 61,944,733 (GRCm39) |
V88A |
probably damaging |
Het |
Fbxl9 |
A |
G |
8: 106,042,299 (GRCm39) |
|
probably benign |
Het |
Fgd3 |
A |
T |
13: 49,450,166 (GRCm39) |
S28T |
possibly damaging |
Het |
Fmn1 |
C |
A |
2: 113,356,025 (GRCm39) |
P920Q |
unknown |
Het |
Gpr139 |
G |
C |
7: 118,744,089 (GRCm39) |
D165E |
probably benign |
Het |
Hoxb1 |
A |
G |
11: 96,257,927 (GRCm39) |
T286A |
possibly damaging |
Het |
Ifi204 |
T |
A |
1: 173,587,134 (GRCm39) |
E174D |
probably benign |
Het |
Igf2bp2 |
A |
G |
16: 21,880,632 (GRCm39) |
I555T |
possibly damaging |
Het |
Ighv1-85 |
A |
G |
12: 115,963,799 (GRCm39) |
I67T |
probably damaging |
Het |
Ihh |
G |
C |
1: 74,990,306 (GRCm39) |
P23R |
unknown |
Het |
Irx2 |
T |
C |
13: 72,779,396 (GRCm39) |
S227P |
probably damaging |
Het |
Itga4 |
A |
G |
2: 79,086,526 (GRCm39) |
I68V |
probably benign |
Het |
Jsrp1 |
T |
A |
10: 80,647,906 (GRCm39) |
T51S |
probably benign |
Het |
Khdc4 |
T |
C |
3: 88,619,002 (GRCm39) |
S569P |
probably damaging |
Het |
Kifc2 |
G |
T |
15: 76,547,010 (GRCm39) |
G306V |
probably damaging |
Het |
L3mbtl2 |
T |
A |
15: 81,551,588 (GRCm39) |
S85T |
possibly damaging |
Het |
Lama1 |
T |
C |
17: 68,074,380 (GRCm39) |
S944P |
|
Het |
Lama4 |
T |
A |
10: 38,902,631 (GRCm39) |
C202S |
probably damaging |
Het |
Mrtfb |
T |
A |
16: 13,223,718 (GRCm39) |
Y866* |
probably null |
Het |
Myorg |
A |
G |
4: 41,498,577 (GRCm39) |
I351T |
probably damaging |
Het |
N4bp2l1 |
G |
A |
5: 150,496,389 (GRCm39) |
T179I |
probably damaging |
Het |
Narf |
A |
G |
11: 121,139,976 (GRCm39) |
E270G |
probably benign |
Het |
Nsd2 |
A |
G |
5: 34,049,380 (GRCm39) |
D1205G |
probably damaging |
Het |
Or10x1 |
T |
C |
1: 174,196,759 (GRCm39) |
V92A |
probably benign |
Het |
Or5an11 |
T |
C |
19: 12,246,068 (GRCm39) |
V158A |
probably benign |
Het |
Parl |
T |
C |
16: 20,106,625 (GRCm39) |
T195A |
probably benign |
Het |
Phrf1 |
A |
G |
7: 140,820,846 (GRCm39) |
I158V |
unknown |
Het |
Phtf1 |
T |
C |
3: 103,904,980 (GRCm39) |
F543L |
possibly damaging |
Het |
Plod2 |
T |
A |
9: 92,466,611 (GRCm39) |
D190E |
probably damaging |
Het |
Polr1a |
G |
T |
6: 71,927,863 (GRCm39) |
K871N |
possibly damaging |
Het |
Ppp2r5a |
A |
T |
1: 191,089,998 (GRCm39) |
I252K |
probably damaging |
Het |
Ptgir |
T |
A |
7: 16,640,973 (GRCm39) |
D88E |
probably damaging |
Het |
Raly |
T |
C |
2: 154,699,340 (GRCm39) |
V48A |
probably damaging |
Het |
Ripor1 |
T |
A |
8: 106,344,447 (GRCm39) |
L527* |
probably null |
Het |
Rnf213 |
T |
C |
11: 119,307,373 (GRCm39) |
S678P |
|
Het |
Rpf1 |
T |
A |
3: 146,212,918 (GRCm39) |
Q306L |
probably benign |
Het |
Rpl14 |
T |
C |
9: 120,403,171 (GRCm39) |
I122T |
probably damaging |
Het |
Scn9a |
C |
A |
2: 66,314,748 (GRCm39) |
A1657S |
possibly damaging |
Het |
Serpinb10 |
A |
G |
1: 107,474,477 (GRCm39) |
Y213C |
probably damaging |
Het |
Slc25a23 |
A |
G |
17: 57,359,827 (GRCm39) |
L308P |
probably damaging |
Het |
Smg9 |
T |
A |
7: 24,120,058 (GRCm39) |
M387K |
probably benign |
Het |
Socs3 |
G |
A |
11: 117,858,614 (GRCm39) |
P148L |
probably benign |
Het |
Susd3 |
A |
G |
13: 49,401,906 (GRCm39) |
L14P |
probably benign |
Het |
Syt14 |
T |
A |
1: 192,662,858 (GRCm39) |
M80L |
probably benign |
Het |
Tmprss2 |
T |
A |
16: 97,369,616 (GRCm39) |
Y386F |
possibly damaging |
Het |
Tmx3 |
T |
A |
18: 90,558,195 (GRCm39) |
S416T |
probably benign |
Het |
Treh |
A |
G |
9: 44,597,245 (GRCm39) |
T555A |
probably benign |
Het |
Ttc5 |
T |
G |
14: 51,003,400 (GRCm39) |
Q428P |
probably damaging |
Het |
Vmn2r73 |
A |
G |
7: 85,521,192 (GRCm39) |
S259P |
possibly damaging |
Het |
Vps4b |
A |
T |
1: 106,719,434 (GRCm39) |
V38E |
probably damaging |
Het |
Wdr83 |
C |
A |
8: 85,802,890 (GRCm39) |
R177L |
probably benign |
Het |
Zfp780b |
A |
G |
7: 27,662,588 (GRCm39) |
F656L |
possibly damaging |
Het |
Zfp995 |
A |
T |
17: 22,099,641 (GRCm39) |
F198I |
probably benign |
Het |
Zswim8 |
A |
T |
14: 20,771,552 (GRCm39) |
Y1495F |
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 |
|
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 |
|
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'- GACCCCTTGCCTATGGTTTG -3'
(R):5'- CAAGCCTGCTAACAGTTATAGTAC -3'
Sequencing Primer
(F):5'- GCCTATGGTTTGCTTGCAC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
Posted On |
2019-06-26 |