Incidental Mutation 'R6225:Morc3'
| ID |
504298 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Morc3
|
| Ensembl Gene |
ENSMUSG00000039456 |
| Gene Name |
microrchidia 3 |
| Synonyms |
Zcwcc3, D16Jhu32e, 1110051N18Rik, 1110051N18Rik |
| MMRRC Submission |
044356-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6225 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
93629009-93672961 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 93642082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 100
(Y100*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044068]
[ENSMUST00000201097]
[ENSMUST00000201754]
[ENSMUST00000202261]
|
| AlphaFold |
F7BJB9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044068
AA Change: Y100*
|
| SMART Domains |
Protein: ENSMUSP00000040152
Gene: ENSMUSG00000039456
AA Change: Y100*
| 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 null
Transcript: ENSMUST00000201097
AA Change: Y29*
|
| SMART Domains |
Protein: ENSMUSP00000144058
Gene: ENSMUSG00000039456
AA Change: Y29*
| 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 |
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 null
Transcript: ENSMUST00000202261
AA Change: Y100*
|
| SMART Domains |
Protein: ENSMUSP00000144369
Gene: ENSMUSG00000039456
AA Change: Y100*
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (74/74) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
A |
G |
11: 105,870,445 (GRCm39) |
H288R |
possibly damaging |
Het |
| Adh1 |
T |
C |
3: 137,995,565 (GRCm39) |
F323L |
probably benign |
Het |
| Adss1 |
A |
C |
12: 112,600,837 (GRCm39) |
H226P |
probably damaging |
Het |
| Ahrr |
A |
G |
13: 74,371,031 (GRCm39) |
S230P |
possibly damaging |
Het |
| Akap9 |
T |
C |
5: 4,012,105 (GRCm39) |
V936A |
probably damaging |
Het |
| B4galnt2 |
A |
G |
11: 95,759,268 (GRCm39) |
Y339H |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,002,453 (GRCm39) |
V1466A |
probably damaging |
Het |
| C4b |
C |
A |
17: 34,957,848 (GRCm39) |
G611V |
possibly damaging |
Het |
| Cacna1i |
A |
G |
15: 80,205,427 (GRCm39) |
M128V |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,038,213 (GRCm39) |
S370P |
possibly damaging |
Het |
| Cops6 |
T |
C |
5: 138,159,673 (GRCm39) |
V9A |
possibly damaging |
Het |
| D630003M21Rik |
A |
T |
2: 158,059,321 (GRCm39) |
I193K |
probably benign |
Het |
| Daam2 |
T |
C |
17: 49,801,467 (GRCm39) |
D90G |
probably damaging |
Het |
| Fads3 |
A |
G |
19: 10,019,202 (GRCm39) |
D36G |
probably benign |
Het |
| Fam185a |
T |
C |
5: 21,630,554 (GRCm39) |
V130A |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,172,463 (GRCm39) |
N1928K |
probably damaging |
Het |
| Fstl3 |
A |
G |
10: 79,615,843 (GRCm39) |
M110V |
probably benign |
Het |
| G2e3 |
A |
G |
12: 51,415,919 (GRCm39) |
T552A |
possibly damaging |
Het |
| Gfra1 |
G |
A |
19: 58,226,830 (GRCm39) |
T462I |
probably damaging |
Het |
| Glrx2 |
T |
A |
1: 143,621,121 (GRCm39) |
|
probably benign |
Het |
| Gm10100 |
G |
T |
10: 77,562,498 (GRCm39) |
C60F |
possibly damaging |
Het |
| Gm43302 |
T |
A |
5: 105,425,605 (GRCm39) |
K275* |
probably null |
Het |
| Gm6569 |
A |
G |
15: 73,711,640 (GRCm39) |
|
probably benign |
Het |
| Herc6 |
G |
T |
6: 57,639,139 (GRCm39) |
V867L |
possibly damaging |
Het |
| Hhipl2 |
T |
A |
1: 183,209,459 (GRCm39) |
|
probably null |
Het |
| Kcnj16 |
A |
T |
11: 110,916,378 (GRCm39) |
K347* |
probably null |
Het |
| Kcnt2 |
T |
A |
1: 140,354,661 (GRCm39) |
C305* |
probably null |
Het |
| Large2 |
A |
G |
2: 92,196,825 (GRCm39) |
L477P |
probably damaging |
Het |
| Lnpep |
T |
C |
17: 17,799,245 (GRCm39) |
T137A |
possibly damaging |
Het |
| Mettl3 |
T |
C |
14: 52,534,215 (GRCm39) |
|
probably null |
Het |
| Mical3 |
C |
T |
6: 120,935,684 (GRCm39) |
S1614N |
probably damaging |
Het |
| Mmut |
T |
A |
17: 41,249,622 (GRCm39) |
V199E |
possibly damaging |
Het |
| Mrc2 |
A |
G |
11: 105,237,646 (GRCm39) |
K1108R |
probably benign |
Het |
| Mrpl2 |
T |
C |
17: 46,960,835 (GRCm39) |
V243A |
probably damaging |
Het |
| Mtor |
T |
A |
4: 148,605,794 (GRCm39) |
N1505K |
probably benign |
Het |
| Myo1g |
A |
T |
11: 6,469,168 (GRCm39) |
Y45N |
probably damaging |
Het |
| Nckap5l |
C |
A |
15: 99,325,905 (GRCm39) |
L199F |
possibly damaging |
Het |
| Ndufc2 |
A |
G |
7: 97,056,099 (GRCm39) |
T66A |
probably damaging |
Het |
| Nos1 |
T |
A |
5: 118,050,917 (GRCm39) |
H779Q |
probably damaging |
Het |
| Or12e13 |
A |
G |
2: 87,663,661 (GRCm39) |
T93A |
probably benign |
Het |
| Or13j1 |
T |
C |
4: 43,705,698 (GRCm39) |
Y290C |
probably damaging |
Het |
| Or1e23 |
T |
C |
11: 73,407,831 (GRCm39) |
N65D |
probably damaging |
Het |
| Or4c3 |
A |
G |
2: 89,851,573 (GRCm39) |
|
probably null |
Het |
| Or51ah3 |
A |
T |
7: 103,210,489 (GRCm39) |
R268S |
probably benign |
Het |
| Or5au1 |
C |
A |
14: 52,272,825 (GRCm39) |
V248L |
possibly damaging |
Het |
| Or5k16 |
T |
C |
16: 58,736,545 (GRCm39) |
N153S |
probably benign |
Het |
| Otog |
C |
T |
7: 45,898,458 (GRCm39) |
T192I |
possibly damaging |
Het |
| Oxct1 |
T |
C |
15: 4,064,812 (GRCm39) |
V50A |
probably benign |
Het |
| P3h2 |
T |
A |
16: 25,784,493 (GRCm39) |
D667V |
probably damaging |
Het |
| Pcdhb20 |
A |
G |
18: 37,638,047 (GRCm39) |
Y191C |
probably damaging |
Het |
| Pds5b |
T |
G |
5: 150,670,083 (GRCm39) |
V357G |
probably damaging |
Het |
| Pggt1b |
A |
G |
18: 46,407,674 (GRCm39) |
V81A |
possibly damaging |
Het |
| Phxr2 |
A |
G |
10: 98,962,043 (GRCm39) |
|
probably benign |
Het |
| Pnpt1 |
T |
C |
11: 29,095,469 (GRCm39) |
I406T |
probably benign |
Het |
| Ppat |
T |
C |
5: 77,070,202 (GRCm39) |
I173V |
probably damaging |
Het |
| Proser3 |
T |
C |
7: 30,243,153 (GRCm39) |
S167G |
probably damaging |
Het |
| Rnf135 |
A |
C |
11: 80,080,053 (GRCm39) |
T115P |
possibly damaging |
Het |
| Rpl22 |
C |
T |
4: 152,414,536 (GRCm39) |
R65C |
probably benign |
Het |
| Scel |
T |
C |
14: 103,829,420 (GRCm39) |
F405L |
probably benign |
Het |
| Serinc3 |
A |
G |
2: 163,469,799 (GRCm39) |
Y350H |
probably damaging |
Het |
| Slc25a16 |
C |
A |
10: 62,764,102 (GRCm39) |
T53K |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,870,215 (GRCm39) |
F308I |
possibly damaging |
Het |
| Slitrk5 |
GACTAC |
GACTACTAC |
14: 111,917,248 (GRCm39) |
|
probably benign |
Het |
| Smok3c |
T |
C |
5: 138,063,314 (GRCm39) |
V267A |
probably benign |
Het |
| Ssrp1 |
A |
G |
2: 84,873,158 (GRCm39) |
D473G |
probably benign |
Het |
| Svs6 |
A |
G |
2: 164,159,405 (GRCm39) |
E56G |
possibly damaging |
Het |
| Tas2r130 |
TCATTTC |
T |
6: 131,607,547 (GRCm39) |
|
probably benign |
Het |
| Thoc3 |
T |
C |
13: 54,615,785 (GRCm39) |
N93S |
probably benign |
Het |
| Tle6 |
A |
G |
10: 81,428,600 (GRCm39) |
C443R |
probably damaging |
Het |
| Tmed6 |
A |
G |
8: 107,788,371 (GRCm39) |
F192S |
probably damaging |
Het |
| Tpx2 |
A |
G |
2: 152,718,548 (GRCm39) |
N184D |
probably benign |
Het |
| Vmn2r31 |
T |
A |
7: 7,397,638 (GRCm39) |
N207Y |
probably benign |
Het |
| Zfp267 |
T |
C |
3: 36,220,352 (GRCm39) |
F792L |
probably benign |
Het |
| Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
| Zfp972 |
A |
T |
2: 177,549,117 (GRCm39) |
|
probably null |
Het |
| Zzef1 |
G |
A |
11: 72,760,631 (GRCm39) |
C1318Y |
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 |
|
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'- GGAAGTGCCTGAAATGCATTC -3'
(R):5'- TGCAGCATTCATTCCACAATC -3'
Sequencing Primer
(F):5'- AGGTCACAGTAATGTGCCC -3'
(R):5'- CAAAAGGATATGGTGTTTGTTGAACG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation