Incidental Mutation 'IGL01845:Morc3'
| ID |
178214 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Morc3
|
| Ensembl Gene |
ENSMUSG00000039456 |
| Gene Name |
microrchidia 3 |
| Synonyms |
Zcwcc3, D16Jhu32e, 1110051N18Rik, 1110051N18Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01845
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
93629009-93672961 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93657455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 393
(Y393C)
|
| 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: Y393C
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000040152
Gene: ENSMUSG00000039456
AA Change: Y393C
| 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: Y322C
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144058
Gene: ENSMUSG00000039456
AA Change: Y322C
| 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 |
noncoding transcript
Transcript: ENSMUST00000201706
|
| 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: Y393C
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144369
Gene: ENSMUSG00000039456
AA Change: Y393C
| 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 |
unknown
Transcript: ENSMUST00000232639
AA Change: Y18C
|
| Coding Region Coverage |
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012H06Rik |
T |
C |
17: 15,164,380 (GRCm39) |
L169P |
probably damaging |
Het |
| 4933405L10Rik |
C |
A |
8: 106,435,567 (GRCm39) |
A75E |
probably benign |
Het |
| Abca1 |
A |
G |
4: 53,090,297 (GRCm39) |
L384P |
probably damaging |
Het |
| Acox2 |
C |
A |
14: 8,251,617 (GRCm38) |
M293I |
probably damaging |
Het |
| Acp6 |
A |
G |
3: 97,081,123 (GRCm39) |
S288G |
probably benign |
Het |
| Arhgef12 |
T |
A |
9: 42,934,137 (GRCm39) |
H127L |
possibly damaging |
Het |
| Arid2 |
T |
G |
15: 96,254,678 (GRCm39) |
F175V |
probably damaging |
Het |
| Ccdc15 |
G |
A |
9: 37,226,532 (GRCm39) |
Q468* |
probably null |
Het |
| Ccdc93 |
T |
C |
1: 121,390,859 (GRCm39) |
I277T |
probably damaging |
Het |
| Cdh8 |
T |
C |
8: 99,825,586 (GRCm39) |
|
probably benign |
Het |
| Cdipt |
T |
C |
7: 126,578,725 (GRCm39) |
S145P |
possibly damaging |
Het |
| Cfap206 |
T |
C |
4: 34,719,610 (GRCm39) |
N268S |
possibly damaging |
Het |
| Clcn3 |
A |
T |
8: 61,366,129 (GRCm39) |
N814K |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,724,293 (GRCm39) |
D2019G |
probably damaging |
Het |
| Corin |
C |
A |
5: 72,511,282 (GRCm39) |
G432C |
probably damaging |
Het |
| Crppa |
A |
G |
12: 36,597,918 (GRCm39) |
R350G |
probably benign |
Het |
| Cyld |
C |
T |
8: 89,432,403 (GRCm39) |
Q134* |
probably null |
Het |
| Dhh |
C |
A |
15: 98,795,864 (GRCm39) |
R97L |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,449,315 (GRCm39) |
V4239A |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,599,692 (GRCm39) |
I296V |
probably benign |
Het |
| Gabbr1 |
T |
C |
17: 37,359,306 (GRCm39) |
|
probably benign |
Het |
| Gbp10 |
T |
C |
5: 105,367,815 (GRCm39) |
|
probably null |
Het |
| Itgam |
T |
A |
7: 127,711,644 (GRCm39) |
L753Q |
probably damaging |
Het |
| Kbtbd12 |
A |
G |
6: 88,590,922 (GRCm39) |
V430A |
probably benign |
Het |
| Kdm4a |
A |
G |
4: 118,017,656 (GRCm39) |
V470A |
possibly damaging |
Het |
| Larp1b |
A |
T |
3: 40,924,960 (GRCm39) |
T146S |
probably benign |
Het |
| Lrrfip2 |
T |
A |
9: 111,028,728 (GRCm39) |
|
probably benign |
Het |
| Mier2 |
A |
T |
10: 79,385,418 (GRCm39) |
C137S |
possibly damaging |
Het |
| Ms4a7 |
A |
T |
19: 11,299,751 (GRCm39) |
M217K |
possibly damaging |
Het |
| Msl1 |
A |
G |
11: 98,696,191 (GRCm39) |
|
probably null |
Het |
| Myh2 |
A |
G |
11: 67,083,860 (GRCm39) |
E1546G |
probably benign |
Het |
| Nlgn2 |
A |
G |
11: 69,716,675 (GRCm39) |
L622P |
possibly damaging |
Het |
| Oga |
T |
A |
19: 45,756,301 (GRCm39) |
E447D |
probably benign |
Het |
| Or10q3 |
A |
G |
19: 11,847,888 (GRCm39) |
S231P |
probably benign |
Het |
| Or1e33 |
A |
G |
11: 73,738,298 (GRCm39) |
Y218H |
probably damaging |
Het |
| Or1j11 |
A |
C |
2: 36,312,105 (GRCm39) |
K232Q |
probably benign |
Het |
| Or56b1b |
T |
A |
7: 108,164,343 (GRCm39) |
I220L |
possibly damaging |
Het |
| Or5k17 |
T |
C |
16: 58,746,929 (GRCm39) |
M2V |
probably benign |
Het |
| Phf20 |
C |
A |
2: 156,118,577 (GRCm39) |
S427* |
probably null |
Het |
| Pirt |
G |
A |
11: 66,816,794 (GRCm39) |
S35N |
probably damaging |
Het |
| Prss28 |
C |
A |
17: 25,529,011 (GRCm39) |
N117K |
possibly damaging |
Het |
| Rbbp8nl |
A |
G |
2: 179,925,104 (GRCm39) |
C34R |
probably damaging |
Het |
| Rtn3 |
A |
T |
19: 7,435,241 (GRCm39) |
D231E |
probably damaging |
Het |
| Sema5a |
T |
C |
15: 32,474,514 (GRCm39) |
|
probably benign |
Het |
| Sh3bp2 |
T |
A |
5: 34,713,347 (GRCm39) |
L196Q |
probably damaging |
Het |
| Slc26a9 |
G |
T |
1: 131,685,256 (GRCm39) |
D325Y |
probably damaging |
Het |
| Slc4a1 |
A |
G |
11: 102,244,729 (GRCm39) |
V622A |
probably benign |
Het |
| Thbd |
A |
G |
2: 148,249,016 (GRCm39) |
V284A |
probably benign |
Het |
| Tmc5 |
T |
C |
7: 118,251,733 (GRCm39) |
F609L |
possibly damaging |
Het |
| Tnr |
T |
C |
1: 159,695,576 (GRCm39) |
|
probably benign |
Het |
| Ttc17 |
A |
T |
2: 94,163,177 (GRCm39) |
Y881* |
probably null |
Het |
| Ttc41 |
A |
T |
10: 86,612,488 (GRCm39) |
T1254S |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,640,347 (GRCm39) |
D13754N |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,511,762 (GRCm39) |
F656L |
probably damaging |
Het |
| Wdr19 |
A |
G |
5: 65,382,709 (GRCm39) |
I478V |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,379,116 (GRCm39) |
|
probably benign |
Het |
| Zp2 |
T |
A |
7: 119,737,414 (GRCm39) |
D258V |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation