Incidental Mutation 'R9431:Morc3'
| ID |
712981 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Morc3
|
| Ensembl Gene |
ENSMUSG00000039456 |
| Gene Name |
microrchidia 3 |
| Synonyms |
Zcwcc3, D16Jhu32e, 1110051N18Rik, 1110051N18Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9431 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
93629009-93672961 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 93667771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 716
(Y716*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044068]
[ENSMUST00000202261]
|
| AlphaFold |
F7BJB9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044068
AA Change: Y716*
|
| SMART Domains |
Protein: ENSMUSP00000040152
Gene: ENSMUSG00000039456
AA Change: Y716*
| 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: ENSMUST00000202261
AA Change: Y716*
|
| SMART Domains |
Protein: ENSMUSP00000144369
Gene: ENSMUSG00000039456
AA Change: Y716*
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
C |
5: 88,120,325 (GRCm39) |
I361L |
possibly damaging |
Het |
| Aebp2 |
C |
T |
6: 140,592,594 (GRCm39) |
P446L |
probably damaging |
Het |
| Arhgap32 |
C |
A |
9: 32,170,463 (GRCm39) |
A1081D |
probably damaging |
Het |
| Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
| Cdc73 |
T |
A |
1: 143,545,740 (GRCm39) |
K299* |
probably null |
Het |
| Cpq |
C |
T |
15: 33,250,078 (GRCm39) |
T145I |
probably benign |
Het |
| Creb1 |
C |
A |
1: 64,615,413 (GRCm39) |
A215E |
probably damaging |
Het |
| D630045J12Rik |
G |
T |
6: 38,173,814 (GRCm39) |
A118E |
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,450,812 (GRCm39) |
F3873I |
possibly damaging |
Het |
| Dock10 |
T |
C |
1: 80,583,593 (GRCm39) |
Y203C |
probably damaging |
Het |
| Evi5 |
A |
G |
5: 107,990,150 (GRCm39) |
V23A |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,142,838 (GRCm39) |
D4337G |
probably damaging |
Het |
| Fbxl17 |
G |
A |
17: 63,387,489 (GRCm39) |
T631I |
probably damaging |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Focad |
A |
G |
4: 88,321,583 (GRCm39) |
M1559V |
unknown |
Het |
| Fras1 |
A |
T |
5: 96,900,873 (GRCm39) |
I3031L |
possibly damaging |
Het |
| Gnas |
T |
C |
2: 174,139,826 (GRCm39) |
S58P |
unknown |
Het |
| Hdac9 |
G |
A |
12: 34,440,327 (GRCm39) |
Q351* |
probably null |
Het |
| Ibsp |
A |
T |
5: 104,457,167 (GRCm39) |
N92I |
probably damaging |
Het |
| Kank1 |
C |
A |
19: 25,387,866 (GRCm39) |
T513N |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 192,101,123 (GRCm39) |
T599A |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,392,253 (GRCm39) |
L992M |
probably damaging |
Het |
| Lipc |
T |
C |
9: 70,723,889 (GRCm39) |
Y245C |
probably damaging |
Het |
| Mdfic2 |
T |
C |
6: 98,215,164 (GRCm39) |
H153R |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,963,952 (GRCm39) |
D848V |
probably damaging |
Het |
| Or13c7e-ps1 |
A |
C |
4: 43,781,682 (GRCm39) |
I216S |
possibly damaging |
Het |
| Or2d2b |
T |
A |
7: 106,705,336 (GRCm39) |
H244L |
probably damaging |
Het |
| Or2y1b |
A |
G |
11: 49,208,459 (GRCm39) |
I29V |
probably benign |
Het |
| Or5h27 |
A |
G |
16: 59,006,090 (GRCm39) |
V252A |
unknown |
Het |
| Or6ae1 |
T |
A |
7: 139,741,942 (GRCm39) |
Q307L |
probably benign |
Het |
| Patl1 |
A |
G |
19: 11,898,815 (GRCm39) |
E170G |
probably damaging |
Het |
| Rad17 |
A |
G |
13: 100,780,074 (GRCm39) |
V112A |
probably damaging |
Het |
| Rigi |
A |
G |
4: 40,229,545 (GRCm39) |
S125P |
probably benign |
Het |
| Sertad2 |
A |
T |
11: 20,598,425 (GRCm39) |
E207V |
probably benign |
Het |
| Slc12a5 |
T |
C |
2: 164,832,178 (GRCm39) |
V699A |
possibly damaging |
Het |
| Slc13a4 |
A |
G |
6: 35,278,742 (GRCm39) |
V49A |
probably damaging |
Het |
| Slc22a6 |
A |
G |
19: 8,598,596 (GRCm39) |
T218A |
probably benign |
Het |
| Slc30a9 |
A |
G |
5: 67,505,278 (GRCm39) |
D422G |
probably damaging |
Het |
| Slc37a3 |
T |
C |
6: 39,324,363 (GRCm39) |
Y295C |
possibly damaging |
Het |
| Slc39a8 |
T |
C |
3: 135,563,923 (GRCm39) |
V256A |
probably benign |
Het |
| Slc45a2 |
G |
A |
15: 11,026,005 (GRCm39) |
E452K |
possibly damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Slc7a12 |
G |
A |
3: 14,546,035 (GRCm39) |
C60Y |
probably damaging |
Het |
| St8sia3 |
T |
A |
18: 64,398,640 (GRCm39) |
L33Q |
probably damaging |
Het |
| Tiam1 |
A |
G |
16: 89,594,918 (GRCm39) |
|
probably null |
Het |
| Trim37 |
T |
A |
11: 87,077,257 (GRCm39) |
V529E |
probably benign |
Het |
| Trpv3 |
A |
T |
11: 73,178,225 (GRCm39) |
T431S |
probably benign |
Het |
| Tsc22d1 |
TCAGCAGCAGCAGCAGCAGCAGCAGCA |
TCAGCAGCAGCAGCAGCAGCAGCA |
14: 76,654,707 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,544,679 (GRCm39) |
V32808M |
probably damaging |
Het |
| Vmn2r27 |
T |
C |
6: 124,168,856 (GRCm39) |
Y758C |
probably damaging |
Het |
| Vwa5b2 |
C |
T |
16: 20,423,046 (GRCm39) |
P1015S |
probably benign |
Het |
| Whamm |
A |
G |
7: 81,236,035 (GRCm39) |
R413G |
probably damaging |
Het |
| Zbtb41 |
C |
T |
1: 139,350,781 (GRCm39) |
|
probably benign |
Het |
| Zfp119b |
A |
G |
17: 56,246,536 (GRCm39) |
S217P |
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 |
|
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 |
|
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'- GCATTACGGTCTCCACTCAGAC -3'
(R):5'- TACTGAGACCCCAAGTGGTC -3'
Sequencing Primer
(F):5'- GTCTCCACTCAGACCGATGC -3'
(R):5'- AAGTGGTCCAGGCTCTCAG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation