Incidental Mutation 'IGL03232:Morc1'
| ID |
413948 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Morc1
|
| Ensembl Gene |
ENSMUSG00000022652 |
| Gene Name |
microrchidia 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.281)
|
| Stock # |
IGL03232
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
48251600-48451263 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48451165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 948
(E948G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023330
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023330]
|
| AlphaFold |
Q9WVL5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023330
AA Change: E948G
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000023330
Gene: ENSMUSG00000022652
AA Change: E948G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HATPase_c_3
|
24 |
161 |
3.8e-21 |
PFAM |
|
low complexity region
|
196 |
206 |
N/A |
INTRINSIC |
|
coiled coil region
|
281 |
311 |
N/A |
INTRINSIC |
|
Pfam:zf-CW
|
481 |
528 |
2e-14 |
PFAM |
|
low complexity region
|
639 |
651 |
N/A |
INTRINSIC |
|
coiled coil region
|
885 |
916 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232195
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the human homolog of mouse morc and like the mouse protein it is testis-specific. Mouse studies support a testis-specific function since only male knockout mice are infertile; infertility is the only apparent defect. These studies further support a role for this protein early in spermatogenesis, possibly by affecting entry into apoptosis because testis from knockout mice show greatly increased numbers of apoptotic cells. [provided by RefSeq, Jan 2009]
PHENOTYPE: Inactivation of this locus results in small testes and male sterility, the latter owing to meiotic arrest. Mutant females exhibited histologically normal ovaries and were fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c19 |
A |
G |
13: 4,288,462 (GRCm39) |
T147A |
probably damaging |
Het |
| Bdp1 |
A |
G |
13: 100,187,989 (GRCm39) |
L1532S |
probably damaging |
Het |
| Btbd3 |
G |
A |
2: 138,126,063 (GRCm39) |
A416T |
probably damaging |
Het |
| Cacna1e |
C |
T |
1: 154,369,104 (GRCm39) |
R311H |
probably damaging |
Het |
| Cers2 |
T |
G |
3: 95,227,468 (GRCm39) |
V32G |
probably damaging |
Het |
| Cimip2a |
A |
T |
2: 25,111,751 (GRCm39) |
R277* |
probably null |
Het |
| Cog4 |
A |
G |
8: 111,607,314 (GRCm39) |
|
probably null |
Het |
| Crybg3 |
C |
A |
16: 59,350,731 (GRCm39) |
G870C |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,011,247 (GRCm39) |
H1135Y |
probably benign |
Het |
| Esr1 |
A |
C |
10: 4,919,270 (GRCm39) |
K453N |
probably damaging |
Het |
| Gprc5d |
T |
C |
6: 135,093,662 (GRCm39) |
I82V |
probably benign |
Het |
| H3c3 |
T |
G |
13: 23,929,164 (GRCm39) |
E106A |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,646,103 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,496,446 (GRCm39) |
T17A |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,375,245 (GRCm39) |
A4452T |
probably damaging |
Het |
| Mug1 |
A |
G |
6: 121,855,494 (GRCm39) |
K943E |
probably benign |
Het |
| Or5b109 |
T |
A |
19: 13,212,341 (GRCm39) |
C242* |
probably null |
Het |
| Or5b12b |
C |
A |
19: 12,861,636 (GRCm39) |
Y130* |
probably null |
Het |
| Or5p73 |
A |
G |
7: 108,064,812 (GRCm39) |
T94A |
probably benign |
Het |
| Rab21 |
T |
C |
10: 115,130,767 (GRCm39) |
|
probably benign |
Het |
| Selenoi |
T |
C |
5: 30,461,259 (GRCm39) |
F140S |
probably damaging |
Het |
| Serpini1 |
T |
C |
3: 75,545,317 (GRCm39) |
|
probably benign |
Het |
| Sgip1 |
T |
C |
4: 102,772,251 (GRCm39) |
|
probably benign |
Het |
| Smc1b |
T |
C |
15: 85,013,921 (GRCm39) |
I83M |
possibly damaging |
Het |
| Smg7 |
T |
C |
1: 152,715,907 (GRCm39) |
Y1061C |
probably damaging |
Het |
| Thbs2 |
A |
T |
17: 14,911,675 (GRCm39) |
M1K |
probably null |
Het |
| Ubqlnl |
A |
G |
7: 103,797,836 (GRCm39) |
S554P |
possibly damaging |
Het |
|
| Other mutations in Morc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00763:Morc1
|
APN |
16 |
48,432,689 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00815:Morc1
|
APN |
16 |
48,281,055 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL00939:Morc1
|
APN |
16 |
48,272,952 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01321:Morc1
|
APN |
16 |
48,402,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01410:Morc1
|
APN |
16 |
48,432,677 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01557:Morc1
|
APN |
16 |
48,319,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02118:Morc1
|
APN |
16 |
48,407,467 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02626:Morc1
|
APN |
16 |
48,436,123 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02692:Morc1
|
APN |
16 |
48,330,596 (GRCm39) |
missense |
probably null |
0.95 |
|
IGL02812:Morc1
|
APN |
16 |
48,378,869 (GRCm39) |
splice site |
probably benign |
|
|
IGL03331:Morc1
|
APN |
16 |
48,432,731 (GRCm39) |
splice site |
probably benign |
|
|
IGL03408:Morc1
|
APN |
16 |
48,262,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0545:Morc1
|
UTSW |
16 |
48,386,020 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0569:Morc1
|
UTSW |
16 |
48,407,485 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0699:Morc1
|
UTSW |
16 |
48,412,977 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1717:Morc1
|
UTSW |
16 |
48,272,840 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1728:Morc1
|
UTSW |
16 |
48,432,660 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1803:Morc1
|
UTSW |
16 |
48,443,001 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1864:Morc1
|
UTSW |
16 |
48,412,893 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2008:Morc1
|
UTSW |
16 |
48,386,009 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2070:Morc1
|
UTSW |
16 |
48,412,974 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2071:Morc1
|
UTSW |
16 |
48,412,974 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4851:Morc1
|
UTSW |
16 |
48,381,980 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5013:Morc1
|
UTSW |
16 |
48,322,699 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5081:Morc1
|
UTSW |
16 |
48,322,715 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5259:Morc1
|
UTSW |
16 |
48,451,132 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5342:Morc1
|
UTSW |
16 |
48,438,872 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5481:Morc1
|
UTSW |
16 |
48,381,848 (GRCm39) |
splice site |
probably null |
|
|
R5561:Morc1
|
UTSW |
16 |
48,269,711 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6356:Morc1
|
UTSW |
16 |
48,257,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6526:Morc1
|
UTSW |
16 |
48,407,487 (GRCm39) |
nonsense |
probably null |
|
|
R6743:Morc1
|
UTSW |
16 |
48,322,683 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6940:Morc1
|
UTSW |
16 |
48,300,208 (GRCm39) |
nonsense |
probably null |
|
|
R6994:Morc1
|
UTSW |
16 |
48,438,909 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6994:Morc1
|
UTSW |
16 |
48,385,984 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7009:Morc1
|
UTSW |
16 |
48,447,433 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7346:Morc1
|
UTSW |
16 |
48,451,263 (GRCm39) |
splice site |
probably null |
|
|
R7357:Morc1
|
UTSW |
16 |
48,442,953 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7448:Morc1
|
UTSW |
16 |
48,251,708 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7840:Morc1
|
UTSW |
16 |
48,319,147 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8417:Morc1
|
UTSW |
16 |
48,281,103 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0013:Morc1
|
UTSW |
16 |
48,407,431 (GRCm39) |
missense |
probably benign |
0.04 |
|
X0027:Morc1
|
UTSW |
16 |
48,319,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Morc1
|
UTSW |
16 |
48,407,421 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Morc1
|
UTSW |
16 |
48,386,069 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2016-08-02 |
Incidental Mutation