Incidental Mutation 'R5228:Morc2a'
| ID |
402744 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Morc2a
|
| Ensembl Gene |
ENSMUSG00000034543 |
| Gene Name |
microrchidia 2A |
| Synonyms |
8430403M08Rik, Zcwcc1 |
| MMRRC Submission |
042801-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5228 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
3599191-3640477 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3635439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 810
(V810A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094176
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093389]
[ENSMUST00000096441]
|
| AlphaFold |
Q69ZX6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093389
AA Change: V810A
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000091087
Gene: ENSMUSG00000034543
AA Change: V810A
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
24 |
134 |
5.35e0 |
SMART |
|
coiled coil region
|
285 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
416 |
N/A |
INTRINSIC |
|
Pfam:zf-CW
|
495 |
542 |
5.1e-18 |
PFAM |
|
coiled coil region
|
555 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
600 |
618 |
N/A |
INTRINSIC |
|
low complexity region
|
678 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
714 |
729 |
N/A |
INTRINSIC |
|
coiled coil region
|
742 |
776 |
N/A |
INTRINSIC |
|
coiled coil region
|
966 |
1011 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096441
AA Change: V810A
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000094176
Gene: ENSMUSG00000034543
AA Change: V810A
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
24 |
134 |
5.35e0 |
SMART |
|
coiled coil region
|
285 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
416 |
N/A |
INTRINSIC |
|
Pfam:zf-CW
|
494 |
543 |
1.7e-19 |
PFAM |
|
coiled coil region
|
555 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
600 |
618 |
N/A |
INTRINSIC |
|
low complexity region
|
678 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
714 |
729 |
N/A |
INTRINSIC |
|
coiled coil region
|
742 |
776 |
N/A |
INTRINSIC |
|
coiled coil region
|
966 |
1011 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126035
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128666
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131517
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Microrchidia (MORC) protein superfamily. The encoded protein is known to regulate the condensation of heterochromatin in response to DNA damage and play a role in repressing transcription. The protein has been found to regulate the activity of ATP citrate lyase via specific interaction with this enzyme in the cytosol of lipogenic breast cancer cells. The protein also plays a role in lipogenesis and adipocyte differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn2 |
T |
C |
13: 12,303,545 (GRCm39) |
|
probably null |
Het |
| Agrn |
G |
T |
4: 156,251,403 (GRCm39) |
A1864D |
probably damaging |
Het |
| Ahnak2 |
A |
G |
12: 112,741,820 (GRCm39) |
S751P |
probably benign |
Het |
| Aifm2 |
T |
C |
10: 61,568,196 (GRCm39) |
V201A |
probably damaging |
Het |
| C1rl |
C |
T |
6: 124,485,427 (GRCm39) |
A266V |
probably damaging |
Het |
| Clec2h |
G |
T |
6: 128,651,749 (GRCm39) |
A153S |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,476,768 (GRCm39) |
|
probably null |
Het |
| Frmpd1 |
T |
C |
4: 45,284,322 (GRCm39) |
S1048P |
probably damaging |
Het |
| Galnt16 |
A |
T |
12: 80,630,822 (GRCm39) |
D300V |
probably damaging |
Het |
| Gbp8 |
G |
T |
5: 105,164,051 (GRCm39) |
Q416K |
probably benign |
Het |
| Gldn |
C |
T |
9: 54,242,003 (GRCm39) |
T319I |
probably damaging |
Het |
| Gli2 |
T |
A |
1: 118,763,936 (GRCm39) |
D1405V |
probably damaging |
Het |
| Gtsf2 |
A |
G |
15: 103,353,042 (GRCm39) |
Y45H |
probably damaging |
Het |
| Hmcn1 |
C |
A |
1: 150,522,452 (GRCm39) |
V3483F |
probably benign |
Het |
| Hspa12b |
T |
C |
2: 130,984,884 (GRCm39) |
V385A |
possibly damaging |
Het |
| Ibtk |
T |
C |
9: 85,608,742 (GRCm39) |
E390G |
possibly damaging |
Het |
| Inpp4b |
C |
G |
8: 82,494,744 (GRCm39) |
P53R |
probably damaging |
Het |
| Ipo7 |
T |
A |
7: 109,645,969 (GRCm39) |
C504S |
probably benign |
Het |
| Iws1 |
A |
G |
18: 32,221,314 (GRCm39) |
D549G |
probably damaging |
Het |
| Kcnh4 |
T |
C |
11: 100,637,722 (GRCm39) |
D645G |
probably damaging |
Het |
| Klhl40 |
A |
G |
9: 121,606,867 (GRCm39) |
E9G |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Myo1e |
C |
A |
9: 70,229,640 (GRCm39) |
|
probably null |
Het |
| N4bp2 |
T |
C |
5: 65,964,861 (GRCm39) |
V970A |
probably benign |
Het |
| Pira2 |
T |
A |
7: 3,847,373 (GRCm39) |
K105N |
probably benign |
Het |
| Pml |
G |
A |
9: 58,127,280 (GRCm39) |
R61C |
probably damaging |
Het |
| Pms2 |
T |
C |
5: 143,860,415 (GRCm39) |
L76P |
probably damaging |
Het |
| Rlbp1 |
T |
G |
7: 79,027,082 (GRCm39) |
T193P |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGG |
11: 3,103,384 (GRCm39) |
|
probably benign |
Homo |
| Sh3rf2 |
T |
C |
18: 42,286,246 (GRCm39) |
S548P |
possibly damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,304,384 (GRCm39) |
D609G |
possibly damaging |
Het |
| Slk |
A |
T |
19: 47,613,771 (GRCm39) |
I876F |
probably damaging |
Het |
| Tcf20 |
G |
A |
15: 82,740,156 (GRCm39) |
P432S |
probably benign |
Het |
| Tenm3 |
A |
C |
8: 48,689,390 (GRCm39) |
S2066A |
probably damaging |
Het |
| Topors |
G |
C |
4: 40,262,367 (GRCm39) |
L306V |
probably damaging |
Het |
| Trappc9 |
A |
T |
15: 72,929,844 (GRCm39) |
S171T |
probably damaging |
Het |
| Ube2m |
G |
T |
7: 12,769,697 (GRCm39) |
|
probably benign |
Het |
| Vmn1r37 |
T |
C |
6: 66,709,282 (GRCm39) |
*266Q |
probably null |
Het |
| Vmn2r34 |
T |
C |
7: 7,675,340 (GRCm39) |
T683A |
probably damaging |
Het |
|
| Other mutations in Morc2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00543:Morc2a
|
APN |
11 |
3,630,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00914:Morc2a
|
APN |
11 |
3,618,844 (GRCm39) |
splice site |
probably null |
|
|
IGL01081:Morc2a
|
APN |
11 |
3,638,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01092:Morc2a
|
APN |
11 |
3,634,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01292:Morc2a
|
APN |
11 |
3,638,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01326:Morc2a
|
APN |
11 |
3,631,775 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01526:Morc2a
|
APN |
11 |
3,600,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01651:Morc2a
|
APN |
11 |
3,608,727 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02860:Morc2a
|
APN |
11 |
3,611,821 (GRCm39) |
splice site |
probably benign |
|
|
IGL03372:Morc2a
|
APN |
11 |
3,631,813 (GRCm39) |
splice site |
probably benign |
|
|
R0136:Morc2a
|
UTSW |
11 |
3,635,907 (GRCm39) |
splice site |
probably null |
|
|
R0267:Morc2a
|
UTSW |
11 |
3,628,567 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0279:Morc2a
|
UTSW |
11 |
3,633,989 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0556:Morc2a
|
UTSW |
11 |
3,631,809 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1084:Morc2a
|
UTSW |
11 |
3,600,454 (GRCm39) |
splice site |
probably benign |
|
|
R1148:Morc2a
|
UTSW |
11 |
3,628,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1148:Morc2a
|
UTSW |
11 |
3,628,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1341:Morc2a
|
UTSW |
11 |
3,630,216 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1460:Morc2a
|
UTSW |
11 |
3,633,794 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1493:Morc2a
|
UTSW |
11 |
3,628,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1665:Morc2a
|
UTSW |
11 |
3,625,885 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1668:Morc2a
|
UTSW |
11 |
3,625,885 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1669:Morc2a
|
UTSW |
11 |
3,625,885 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1812:Morc2a
|
UTSW |
11 |
3,635,831 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2132:Morc2a
|
UTSW |
11 |
3,629,787 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2133:Morc2a
|
UTSW |
11 |
3,630,302 (GRCm39) |
nonsense |
probably null |
|
|
R2200:Morc2a
|
UTSW |
11 |
3,633,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2698:Morc2a
|
UTSW |
11 |
3,635,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3236:Morc2a
|
UTSW |
11 |
3,633,612 (GRCm39) |
missense |
probably benign |
|
|
R3698:Morc2a
|
UTSW |
11 |
3,629,672 (GRCm39) |
nonsense |
probably null |
|
|
R3743:Morc2a
|
UTSW |
11 |
3,633,700 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4119:Morc2a
|
UTSW |
11 |
3,633,868 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4898:Morc2a
|
UTSW |
11 |
3,626,664 (GRCm39) |
nonsense |
probably null |
|
|
R5148:Morc2a
|
UTSW |
11 |
3,639,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5395:Morc2a
|
UTSW |
11 |
3,638,232 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5808:Morc2a
|
UTSW |
11 |
3,633,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5942:Morc2a
|
UTSW |
11 |
3,629,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6634:Morc2a
|
UTSW |
11 |
3,622,376 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7056:Morc2a
|
UTSW |
11 |
3,625,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7537:Morc2a
|
UTSW |
11 |
3,633,566 (GRCm39) |
nonsense |
probably null |
|
|
R8014:Morc2a
|
UTSW |
11 |
3,627,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8143:Morc2a
|
UTSW |
11 |
3,628,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8144:Morc2a
|
UTSW |
11 |
3,634,039 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8711:Morc2a
|
UTSW |
11 |
3,630,013 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8714:Morc2a
|
UTSW |
11 |
3,625,877 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8736:Morc2a
|
UTSW |
11 |
3,631,737 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8857:Morc2a
|
UTSW |
11 |
3,627,484 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8885:Morc2a
|
UTSW |
11 |
3,628,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9457:Morc2a
|
UTSW |
11 |
3,626,184 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9711:Morc2a
|
UTSW |
11 |
3,600,381 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
RF013:Morc2a
|
UTSW |
11 |
3,626,191 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGGCAAGTCATTCATCCTG -3'
(R):5'- AGGATCCTAATAGGCTGCTAGG -3'
Sequencing Primer
(F):5'- AAGTCATTCATCCTGTGCCTTGG -3'
(R):5'- TCCTAATAGGCTGCTAGGAGGGAAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation