Incidental Mutation 'R9072:Morc3'
| ID |
700833 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Morc3
|
| Ensembl Gene |
ENSMUSG00000039456 |
| Gene Name |
microrchidia 3 |
| Synonyms |
Zcwcc3, D16Jhu32e, 1110051N18Rik, 1110051N18Rik |
| MMRRC Submission |
068894-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9072 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
93629009-93672961 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93667482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 620
(V620A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044068]
[ENSMUST00000202261]
|
| AlphaFold |
F7BJB9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044068
AA Change: V620A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000040152
Gene: ENSMUSG00000039456
AA Change: V620A
| 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: ENSMUST00000202261
AA Change: V620A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000144369
Gene: ENSMUSG00000039456
AA Change: V620A
| 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: ENSMUST00000232639
|
| Meta Mutation Damage Score |
0.0619 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (63/63) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,240,834 (GRCm39) |
E899A |
possibly damaging |
Het |
| Best2 |
T |
A |
8: 85,737,418 (GRCm39) |
I230F |
probably damaging |
Het |
| C2cd2 |
T |
C |
16: 97,676,403 (GRCm39) |
E448G |
probably damaging |
Het |
| C2cd3 |
T |
G |
7: 100,040,291 (GRCm39) |
S287A |
probably benign |
Het |
| Camta2 |
G |
A |
11: 70,567,234 (GRCm39) |
P677S |
probably benign |
Het |
| Cand2 |
C |
T |
6: 115,769,490 (GRCm39) |
R767C |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,704,293 (GRCm39) |
E259K |
probably benign |
Het |
| Cep250 |
C |
G |
2: 155,834,035 (GRCm39) |
Q1987E |
probably benign |
Het |
| Chn1 |
T |
C |
2: 73,443,430 (GRCm39) |
D440G |
probably benign |
Het |
| Cmbl |
A |
T |
15: 31,585,449 (GRCm39) |
D111V |
possibly damaging |
Het |
| Col5a3 |
T |
A |
9: 20,682,453 (GRCm39) |
I1664F |
unknown |
Het |
| Cp |
T |
C |
3: 20,033,158 (GRCm39) |
S662P |
possibly damaging |
Het |
| Cpne5 |
G |
A |
17: 29,430,677 (GRCm39) |
R78C |
probably damaging |
Het |
| Cst5 |
A |
G |
2: 149,249,261 (GRCm39) |
T104A |
probably benign |
Het |
| Cyp11b2 |
A |
G |
15: 74,725,662 (GRCm39) |
F195S |
possibly damaging |
Het |
| Dcaf17 |
T |
C |
2: 70,920,136 (GRCm39) |
Y475H |
probably benign |
Het |
| Edem2 |
G |
C |
2: 155,571,212 (GRCm39) |
L16V |
unknown |
Het |
| Eeig1 |
A |
G |
2: 32,455,674 (GRCm39) |
S267G |
probably benign |
Het |
| Ext2 |
A |
G |
2: 93,644,144 (GRCm39) |
W46R |
probably benign |
Het |
| Gal3st3 |
T |
A |
19: 5,352,605 (GRCm39) |
S11T |
probably benign |
Het |
| Garin5b |
A |
T |
7: 4,762,253 (GRCm39) |
H265Q |
|
Het |
| Gfi1 |
T |
A |
5: 107,865,725 (GRCm39) |
I451F |
possibly damaging |
Het |
| Gfpt2 |
T |
C |
11: 49,714,185 (GRCm39) |
L314P |
probably damaging |
Het |
| Gm3250 |
A |
T |
10: 77,618,127 (GRCm39) |
C84S |
unknown |
Het |
| Hmcn1 |
A |
T |
1: 150,565,320 (GRCm39) |
V2269E |
probably benign |
Het |
| Ighv1-55 |
T |
C |
12: 115,172,013 (GRCm39) |
H18R |
probably benign |
Het |
| Iqgap3 |
G |
A |
3: 87,998,883 (GRCm39) |
G328E |
probably benign |
Het |
| Klf6 |
G |
T |
13: 5,917,233 (GRCm39) |
C303F |
probably benign |
Het |
| Klhl35 |
A |
T |
7: 99,122,129 (GRCm39) |
S77C |
probably damaging |
Het |
| Ktn1 |
T |
G |
14: 47,941,694 (GRCm39) |
V822G |
probably benign |
Het |
| Lbhd2 |
G |
T |
12: 111,375,040 (GRCm39) |
G21W |
probably damaging |
Het |
| Lrp1b |
G |
A |
2: 40,615,457 (GRCm39) |
R3649* |
probably null |
Het |
| Map2 |
C |
A |
1: 66,453,312 (GRCm39) |
T734N |
probably damaging |
Het |
| Mas1 |
A |
G |
17: 13,060,839 (GRCm39) |
F195L |
possibly damaging |
Het |
| Med1 |
A |
T |
11: 98,080,009 (GRCm39) |
M44K |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,291,459 (GRCm39) |
D1160N |
probably benign |
Het |
| Nucb2 |
T |
A |
7: 116,125,631 (GRCm39) |
I159N |
probably damaging |
Het |
| Olfm5 |
A |
G |
7: 103,802,984 (GRCm39) |
L493P |
probably benign |
Het |
| Or1e1 |
T |
G |
11: 73,244,797 (GRCm39) |
F73V |
probably damaging |
Het |
| Or2ag15 |
A |
T |
7: 106,340,759 (GRCm39) |
C127* |
probably null |
Het |
| Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
| Pcdhb22 |
T |
A |
18: 37,651,813 (GRCm39) |
C94S |
probably damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,829,537 (GRCm39) |
I662V |
probably benign |
Het |
| Plcb2 |
G |
A |
2: 118,547,878 (GRCm39) |
T472M |
possibly damaging |
Het |
| Plcb4 |
A |
G |
2: 135,849,795 (GRCm39) |
E1142G |
possibly damaging |
Het |
| Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
| Polr2l |
T |
C |
7: 141,053,285 (GRCm39) |
Y43C |
probably damaging |
Het |
| Prkcb |
T |
A |
7: 122,127,771 (GRCm39) |
N298K |
probably benign |
Het |
| Ptar1 |
T |
A |
19: 23,695,414 (GRCm39) |
C294S |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,401,736 (GRCm39) |
I1919V |
|
Het |
| Slc25a18 |
C |
T |
6: 120,769,022 (GRCm39) |
R180C |
probably benign |
Het |
| Slc27a3 |
A |
C |
3: 90,295,768 (GRCm39) |
S285R |
probably damaging |
Het |
| Smg1 |
C |
T |
7: 117,783,032 (GRCm39) |
V1092I |
unknown |
Het |
| Spata19 |
T |
G |
9: 27,309,024 (GRCm39) |
I54R |
possibly damaging |
Het |
| St6galnac5 |
T |
C |
3: 152,551,956 (GRCm39) |
T204A |
probably benign |
Het |
| Tdpoz8 |
T |
A |
3: 92,981,341 (GRCm39) |
C46S |
probably benign |
Het |
| Trpc3 |
T |
C |
3: 36,694,831 (GRCm39) |
I708V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,775,183 (GRCm39) |
E1999G |
unknown |
Het |
| Ube3b |
C |
T |
5: 114,542,607 (GRCm39) |
T488M |
probably damaging |
Het |
| Vmn1r235 |
A |
T |
17: 21,482,271 (GRCm39) |
I199F |
probably benign |
Het |
| Vsig8 |
A |
T |
1: 172,388,340 (GRCm39) |
N215Y |
possibly damaging |
Het |
| Wapl |
A |
G |
14: 34,399,417 (GRCm39) |
K162R |
possibly damaging |
Het |
| Wdpcp |
A |
G |
11: 21,614,014 (GRCm39) |
T60A |
probably benign |
Het |
| Wdr26 |
A |
T |
1: 181,010,351 (GRCm39) |
I566N |
probably damaging |
Het |
| Wdr46 |
C |
T |
17: 34,163,555 (GRCm39) |
T371M |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,344,923 (GRCm39) |
S1101P |
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 |
|
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 |
|
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'- TCTGAATGCAAAGACTCGGAG -3'
(R):5'- CGAGGTCTCCTGCACTTTTG -3'
Sequencing Primer
(F):5'- GACTCGGAGATTAAGTAATCCTCCAG -3'
(R):5'- TTTGCCTCAGTACCGACACAGG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation