Incidental Mutation 'R1520:Morc3'
| ID |
167400 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Morc3
|
| Ensembl Gene |
ENSMUSG00000039456 |
| Gene Name |
microrchidia 3 |
| Synonyms |
Zcwcc3, D16Jhu32e, 1110051N18Rik, 1110051N18Rik |
| MMRRC Submission |
039564-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1520 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
93629009-93672961 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93641129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 54
(K54E)
|
| 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: K54E
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000040152
Gene: ENSMUSG00000039456
AA Change: K54E
| 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 |
noncoding transcript
Transcript: ENSMUST00000201497
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000201754
AA Change: K54E
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000144357
Gene: ENSMUSG00000039456
AA Change: K54E
| 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: K54E
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144369
Gene: ENSMUSG00000039456
AA Change: K54E
| 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: ENSMUST00000202663
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231891
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232425
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
A |
G |
10: 79,844,664 (GRCm39) |
N1491S |
possibly damaging |
Het |
| Abcb1b |
G |
A |
5: 8,864,768 (GRCm39) |
A249T |
probably damaging |
Het |
| Acacb |
A |
G |
5: 114,340,001 (GRCm39) |
D804G |
possibly damaging |
Het |
| Agpat3 |
A |
T |
10: 78,123,857 (GRCm39) |
M1K |
probably null |
Het |
| Akr1c12 |
A |
C |
13: 4,326,298 (GRCm39) |
I61R |
probably damaging |
Het |
| Antxr2 |
G |
A |
5: 98,108,551 (GRCm39) |
A320V |
probably benign |
Het |
| Aoc1l2 |
T |
A |
6: 48,908,231 (GRCm39) |
Y410* |
probably null |
Het |
| Arhgef1 |
A |
G |
7: 24,619,129 (GRCm39) |
R454G |
probably damaging |
Het |
| C1ql4 |
T |
C |
15: 98,985,548 (GRCm39) |
H21R |
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,725,857 (GRCm39) |
S3029P |
probably damaging |
Het |
| Chaf1a |
T |
C |
17: 56,354,302 (GRCm39) |
C191R |
unknown |
Het |
| Corin |
A |
C |
5: 72,488,238 (GRCm39) |
C627G |
probably damaging |
Het |
| Cyp3a11 |
T |
C |
5: 145,799,263 (GRCm39) |
Y308C |
probably damaging |
Het |
| Cyp4a32 |
A |
G |
4: 115,471,849 (GRCm39) |
N420S |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,730,266 (GRCm39) |
S889P |
probably damaging |
Het |
| Eng |
A |
G |
2: 32,562,953 (GRCm39) |
H267R |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,839,644 (GRCm39) |
|
probably benign |
Het |
| Fmo9 |
G |
T |
1: 166,495,024 (GRCm39) |
H292Q |
probably benign |
Het |
| Frmpd4 |
T |
C |
X: 166,275,949 (GRCm39) |
S373G |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,811,058 (GRCm39) |
I2459K |
possibly damaging |
Het |
| Gbp5 |
A |
T |
3: 142,213,775 (GRCm39) |
H523L |
probably damaging |
Het |
| Gpr65 |
T |
C |
12: 98,241,434 (GRCm39) |
V29A |
probably benign |
Het |
| Igkv7-33 |
T |
A |
6: 70,036,132 (GRCm39) |
|
probably benign |
Het |
| Iqcc |
G |
A |
4: 129,510,762 (GRCm39) |
T251I |
possibly damaging |
Het |
| Jund |
A |
G |
8: 71,151,923 (GRCm39) |
T73A |
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,431,062 (GRCm39) |
D1153G |
probably benign |
Het |
| Mcm8 |
T |
C |
2: 132,681,375 (GRCm39) |
V617A |
probably benign |
Het |
| Mdga1 |
A |
G |
17: 30,065,493 (GRCm39) |
F646L |
probably benign |
Het |
| Mutyh |
T |
C |
4: 116,674,749 (GRCm39) |
L357P |
probably damaging |
Het |
| Mylk4 |
T |
C |
13: 32,896,821 (GRCm39) |
|
probably null |
Het |
| Or4k41 |
G |
A |
2: 111,279,619 (GRCm39) |
V45I |
probably benign |
Het |
| Osbpl3 |
T |
A |
6: 50,323,411 (GRCm39) |
D224V |
possibly damaging |
Het |
| Parp4 |
T |
C |
14: 56,835,863 (GRCm39) |
I469T |
probably damaging |
Het |
| Pkd1l2 |
A |
G |
8: 117,772,898 (GRCm39) |
V1043A |
probably benign |
Het |
| Plod3 |
A |
G |
5: 137,020,165 (GRCm39) |
N460S |
probably damaging |
Het |
| Preb |
A |
G |
5: 31,115,868 (GRCm39) |
F192L |
probably benign |
Het |
| Prkra |
T |
C |
2: 76,469,622 (GRCm39) |
T146A |
possibly damaging |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Rag2 |
T |
C |
2: 101,460,476 (GRCm39) |
I262T |
probably damaging |
Het |
| Rgr |
A |
G |
14: 36,766,672 (GRCm39) |
W125R |
probably damaging |
Het |
| Rit1 |
T |
A |
3: 88,636,620 (GRCm39) |
F211I |
probably benign |
Het |
| Sc5d |
C |
T |
9: 42,169,946 (GRCm39) |
V92I |
probably benign |
Het |
| Serinc2 |
C |
T |
4: 130,154,543 (GRCm39) |
V234I |
probably benign |
Het |
| Srp54b |
T |
C |
12: 55,304,354 (GRCm39) |
M434T |
possibly damaging |
Het |
| Srrt |
C |
A |
5: 137,297,028 (GRCm39) |
R69L |
probably damaging |
Het |
| Sv2b |
A |
G |
7: 74,807,077 (GRCm39) |
L191P |
probably damaging |
Het |
| Tcf12 |
C |
A |
9: 71,790,388 (GRCm39) |
|
probably null |
Het |
| Tmem273 |
A |
T |
14: 32,527,083 (GRCm39) |
|
probably benign |
Het |
| Tmem87b |
T |
C |
2: 128,681,176 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,647,392 (GRCm39) |
E11031G |
possibly damaging |
Het |
| Uaca |
A |
T |
9: 60,778,663 (GRCm39) |
T1017S |
probably benign |
Het |
| Urb1 |
C |
A |
16: 90,571,633 (GRCm39) |
V1059L |
probably benign |
Het |
| V1rd19 |
G |
A |
7: 23,702,623 (GRCm39) |
A30T |
probably damaging |
Het |
| Vldlr |
C |
T |
19: 27,217,943 (GRCm39) |
L91F |
probably damaging |
Het |
| Vldlr |
G |
T |
19: 27,224,466 (GRCm39) |
A770S |
possibly damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,030,594 (GRCm39) |
T807A |
probably damaging |
Het |
| Wwox |
C |
T |
8: 115,438,873 (GRCm39) |
P313L |
probably benign |
Het |
| Zap70 |
T |
C |
1: 36,810,036 (GRCm39) |
S49P |
probably damaging |
Het |
| Zfp317 |
A |
G |
9: 19,559,144 (GRCm39) |
I453V |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGTGAGTGAGTAGTGGGTTTCACAC -3'
(R):5'- CCACACTGTAGGCATAGCATTTCAGG -3'
Sequencing Primer
(F):5'- CTAGGAAATGAAGGCAGTTTATTCTC -3'
(R):5'- AGCATTTCAGGTTTTAAAGACAAAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation