Incidental Mutation 'R6045:Morc3'
| ID |
483812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Morc3
|
| Ensembl Gene |
ENSMUSG00000039456 |
| Gene Name |
microrchidia 3 |
| Synonyms |
Zcwcc3, D16Jhu32e, 1110051N18Rik, 1110051N18Rik |
| MMRRC Submission |
044213-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6045 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
93629009-93672961 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93671733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 921
(D921G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044068]
[ENSMUST00000201097]
[ENSMUST00000202261]
|
| AlphaFold |
F7BJB9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044068
AA Change: D921G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040152
Gene: ENSMUSG00000039456
AA Change: D921G
| 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: D848G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144058
Gene: ENSMUSG00000039456
AA Change: D848G
| 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 damaging
Transcript: ENSMUST00000202261
AA Change: D921G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144369
Gene: ENSMUSG00000039456
AA Change: D921G
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
T |
C |
8: 79,955,996 (GRCm39) |
Y87C |
probably benign |
Het |
| 5530401A14Rik |
A |
G |
11: 81,784,694 (GRCm39) |
|
probably benign |
Het |
| Adamts5 |
T |
C |
16: 85,696,188 (GRCm39) |
D323G |
probably damaging |
Het |
| Albfm1 |
A |
T |
5: 90,732,848 (GRCm39) |
Q553L |
possibly damaging |
Het |
| Bicc1 |
G |
A |
10: 70,792,911 (GRCm39) |
R248* |
probably null |
Het |
| Bivm |
T |
G |
1: 44,158,233 (GRCm39) |
|
probably benign |
Het |
| Btnl12 |
G |
T |
16: 37,676,384 (GRCm39) |
Q128K |
probably benign |
Het |
| Ccdc8 |
A |
C |
7: 16,729,956 (GRCm39) |
T482P |
unknown |
Het |
| Ccnb2 |
T |
C |
9: 70,326,375 (GRCm39) |
I21V |
probably benign |
Het |
| Cfap73 |
A |
T |
5: 120,769,777 (GRCm39) |
I82N |
probably damaging |
Het |
| Chd3 |
A |
C |
11: 69,242,944 (GRCm39) |
F1426V |
possibly damaging |
Het |
| Clcn2 |
A |
T |
16: 20,530,438 (GRCm39) |
|
probably null |
Het |
| Col6a5 |
T |
C |
9: 105,803,117 (GRCm39) |
N1283D |
unknown |
Het |
| Cyp39a1 |
G |
T |
17: 44,042,882 (GRCm39) |
G411W |
probably damaging |
Het |
| D130052B06Rik |
A |
T |
11: 33,574,008 (GRCm39) |
I202L |
unknown |
Het |
| Defa38 |
A |
T |
8: 21,585,248 (GRCm39) |
C65S |
possibly damaging |
Het |
| Dlgap1 |
T |
C |
17: 71,125,093 (GRCm39) |
L948P |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,566,745 (GRCm39) |
V2494M |
probably damaging |
Het |
| Dysf |
T |
A |
6: 84,091,054 (GRCm39) |
V1076D |
probably damaging |
Het |
| Eif2ak4 |
C |
A |
2: 118,219,296 (GRCm39) |
S36* |
probably null |
Het |
| Elmod3 |
C |
T |
6: 72,545,851 (GRCm39) |
R297H |
probably benign |
Het |
| Epas1 |
C |
A |
17: 87,116,827 (GRCm39) |
R166S |
probably damaging |
Het |
| Erv3 |
A |
G |
2: 131,697,942 (GRCm39) |
L139P |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,275,894 (GRCm39) |
V90A |
probably damaging |
Het |
| Fxr2 |
A |
G |
11: 69,541,877 (GRCm39) |
R439G |
possibly damaging |
Het |
| Gabrd |
A |
T |
4: 155,470,931 (GRCm39) |
V259D |
possibly damaging |
Het |
| Galnt10 |
A |
G |
11: 57,674,619 (GRCm39) |
Y536C |
probably damaging |
Het |
| Gbp10 |
A |
T |
5: 105,366,269 (GRCm39) |
L545Q |
probably damaging |
Het |
| Gfpt1 |
A |
T |
6: 87,062,239 (GRCm39) |
I517F |
probably damaging |
Het |
| Glb1 |
T |
C |
9: 114,267,010 (GRCm39) |
Y225H |
probably damaging |
Het |
| Gm1110 |
C |
T |
9: 26,794,505 (GRCm39) |
|
probably null |
Het |
| Gmps |
C |
T |
3: 63,887,558 (GRCm39) |
P10L |
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,547,068 (GRCm39) |
V1465D |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,882,106 (GRCm39) |
V229A |
probably benign |
Het |
| Hipk1 |
A |
T |
3: 103,654,218 (GRCm39) |
L924Q |
probably benign |
Het |
| Ifngr1 |
T |
G |
10: 19,484,909 (GRCm39) |
L303V |
possibly damaging |
Het |
| Kif22 |
T |
C |
7: 126,630,250 (GRCm39) |
N429D |
probably benign |
Het |
| Ktn1 |
T |
C |
14: 47,914,253 (GRCm39) |
Y401H |
probably damaging |
Het |
| Lars2 |
T |
G |
9: 123,201,053 (GRCm39) |
I39S |
probably damaging |
Het |
| Lipf |
C |
T |
19: 33,944,244 (GRCm39) |
A151V |
probably damaging |
Het |
| Lrp1 |
A |
T |
10: 127,402,469 (GRCm39) |
M2234K |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,591,825 (GRCm39) |
V56A |
unknown |
Het |
| Lyar |
T |
A |
5: 38,391,352 (GRCm39) |
H350Q |
probably benign |
Het |
| Mill2 |
A |
T |
7: 18,590,489 (GRCm39) |
M190L |
probably benign |
Het |
| Mpp2 |
G |
T |
11: 101,950,180 (GRCm39) |
T558K |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,135,550 (GRCm39) |
D379G |
probably benign |
Het |
| Neb |
A |
C |
2: 52,084,437 (GRCm39) |
|
probably null |
Het |
| Nedd1 |
G |
A |
10: 92,530,962 (GRCm39) |
R376* |
probably null |
Het |
| Nlrc4 |
T |
G |
17: 74,753,954 (GRCm39) |
D143A |
probably damaging |
Het |
| Nol10 |
G |
T |
12: 17,398,479 (GRCm39) |
|
probably benign |
Het |
| Opn1sw |
A |
G |
6: 29,379,869 (GRCm39) |
S122P |
probably damaging |
Het |
| Or10j3b |
C |
T |
1: 173,044,067 (GRCm39) |
T283I |
possibly damaging |
Het |
| Or4f14d |
T |
G |
2: 111,960,881 (GRCm39) |
I92L |
possibly damaging |
Het |
| Or52h7 |
C |
T |
7: 104,213,974 (GRCm39) |
T182I |
probably benign |
Het |
| Or5an9 |
C |
A |
19: 12,187,659 (GRCm39) |
A243D |
probably damaging |
Het |
| Or5h27 |
T |
A |
16: 59,006,454 (GRCm39) |
T131S |
probably benign |
Het |
| Orm1 |
T |
A |
4: 63,262,929 (GRCm39) |
I32N |
possibly damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,454,628 (GRCm39) |
V336E |
probably damaging |
Het |
| Poli |
C |
T |
18: 70,650,540 (GRCm39) |
R363K |
possibly damaging |
Het |
| Rabgap1l |
T |
C |
1: 160,472,893 (GRCm39) |
E515G |
probably benign |
Het |
| Rem2 |
C |
A |
14: 54,715,225 (GRCm39) |
T134N |
probably damaging |
Het |
| Rfc1 |
A |
G |
5: 65,436,892 (GRCm39) |
I596T |
probably damaging |
Het |
| Ruvbl2 |
A |
T |
7: 45,074,433 (GRCm39) |
I202N |
probably damaging |
Het |
| S100a6 |
T |
A |
3: 90,521,186 (GRCm39) |
I38N |
probably damaging |
Het |
| Scel |
T |
C |
14: 103,829,649 (GRCm39) |
C435R |
probably benign |
Het |
| Slc6a13 |
T |
A |
6: 121,298,587 (GRCm39) |
W146R |
probably damaging |
Het |
| Sorcs1 |
T |
A |
19: 50,178,555 (GRCm39) |
K856* |
probably null |
Het |
| Speer4e1 |
T |
G |
5: 14,987,195 (GRCm39) |
K70T |
possibly damaging |
Het |
| Sucla2 |
T |
A |
14: 73,806,404 (GRCm39) |
C158* |
probably null |
Het |
| Tie1 |
G |
A |
4: 118,341,888 (GRCm39) |
S187L |
probably benign |
Het |
| Tmem200a |
T |
C |
10: 25,868,905 (GRCm39) |
T455A |
probably damaging |
Het |
| Tra2a |
A |
G |
6: 49,229,398 (GRCm39) |
|
probably benign |
Het |
| Tsnaxip1 |
A |
C |
8: 106,570,819 (GRCm39) |
E615A |
probably benign |
Het |
| Tuba3b |
T |
A |
6: 145,566,900 (GRCm39) |
N380K |
probably damaging |
Het |
| Umod |
C |
T |
7: 119,076,046 (GRCm39) |
S240N |
probably benign |
Het |
| Vmn2r92 |
G |
A |
17: 18,388,305 (GRCm39) |
|
probably null |
Het |
| Vps13b |
A |
G |
15: 35,671,462 (GRCm39) |
E1655G |
probably damaging |
Het |
| Vwde |
A |
T |
6: 13,219,935 (GRCm39) |
I72N |
probably damaging |
Het |
| Wbp11 |
G |
A |
6: 136,798,533 (GRCm39) |
A172V |
probably damaging |
Het |
| Zbtb41 |
T |
A |
1: 139,351,770 (GRCm39) |
N294K |
probably benign |
Het |
| Zfhx4 |
T |
A |
3: 5,462,019 (GRCm39) |
H1206Q |
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 |
|
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'- GCATCTAGTGAATCCATTGGCTG -3'
(R):5'- TGGGACACTCGAATGCATAG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation