Incidental Mutation 'IGL02118:Morc1'
| ID |
280467 |
| 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 # |
IGL02118
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
48251600-48451263 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48407467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 661
(L661P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023330
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023330]
|
| AlphaFold |
Q9WVL5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023330
AA Change: L661P
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000023330
Gene: ENSMUSG00000022652
AA Change: L661P
| 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 |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
C |
5: 35,758,865 (GRCm39) |
Y359H |
possibly damaging |
Het |
| Actn2 |
A |
G |
13: 12,291,433 (GRCm39) |
|
probably benign |
Het |
| Actr8 |
T |
C |
14: 29,704,728 (GRCm39) |
|
probably null |
Het |
| Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
| Aldob |
T |
A |
4: 49,538,790 (GRCm39) |
K243* |
probably null |
Het |
| Arfgap1 |
T |
C |
2: 180,622,237 (GRCm39) |
F274S |
possibly damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cask |
T |
C |
X: 13,425,634 (GRCm39) |
I471V |
probably damaging |
Het |
| Cdc42ep4 |
C |
T |
11: 113,619,942 (GRCm39) |
G150S |
probably benign |
Het |
| Cpne1 |
T |
G |
2: 155,919,563 (GRCm39) |
D278A |
possibly damaging |
Het |
| Gcn1 |
A |
G |
5: 115,748,938 (GRCm39) |
E1856G |
probably damaging |
Het |
| Gm8362 |
A |
T |
14: 18,149,595 (GRCm39) |
V159E |
probably damaging |
Het |
| Golga5 |
A |
G |
12: 102,462,011 (GRCm39) |
I700V |
possibly damaging |
Het |
| Ifi206 |
T |
C |
1: 173,309,334 (GRCm39) |
T221A |
probably benign |
Het |
| Ighv2-6-8 |
T |
C |
12: 113,760,037 (GRCm39) |
K24R |
possibly damaging |
Het |
| Per2 |
G |
A |
1: 91,352,031 (GRCm39) |
T825I |
probably damaging |
Het |
| Plscr1l1 |
A |
T |
9: 92,233,011 (GRCm39) |
K45* |
probably null |
Het |
| Pramel20 |
A |
T |
4: 143,297,726 (GRCm39) |
T49S |
probably benign |
Het |
| Prkar2b |
A |
G |
12: 32,025,963 (GRCm39) |
V19A |
probably damaging |
Het |
| Psmb8 |
T |
A |
17: 34,420,198 (GRCm39) |
D263E |
probably damaging |
Het |
| Pum2 |
T |
C |
12: 8,779,117 (GRCm39) |
I563T |
probably benign |
Het |
| Retreg1 |
T |
G |
15: 25,966,709 (GRCm39) |
|
probably null |
Het |
| Rfx7 |
A |
G |
9: 72,524,486 (GRCm39) |
T559A |
probably benign |
Het |
| Rnf31 |
T |
G |
14: 55,836,569 (GRCm39) |
I801S |
probably damaging |
Het |
| Rom1 |
G |
T |
19: 8,906,386 (GRCm39) |
T51N |
possibly damaging |
Het |
| Sema6b |
G |
T |
17: 56,439,821 (GRCm39) |
P7T |
probably benign |
Het |
| Stpg1 |
A |
G |
4: 135,235,375 (GRCm39) |
|
probably benign |
Het |
| Sugct |
A |
T |
13: 17,627,105 (GRCm39) |
Y249* |
probably null |
Het |
| Tbc1d21 |
C |
T |
9: 58,267,746 (GRCm39) |
V317M |
probably benign |
Het |
| Tcea2 |
A |
G |
2: 181,327,628 (GRCm39) |
I125V |
probably benign |
Het |
| Ttc39b |
T |
A |
4: 83,216,186 (GRCm39) |
D19V |
probably damaging |
Het |
| Tti2 |
T |
A |
8: 31,645,537 (GRCm39) |
|
probably null |
Het |
| Usp32 |
A |
T |
11: 84,923,003 (GRCm39) |
Y142* |
probably null |
Het |
| Vill |
A |
G |
9: 118,889,466 (GRCm39) |
Y134C |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Zfp398 |
A |
G |
6: 47,835,879 (GRCm39) |
D14G |
probably damaging |
Het |
| Zfp598 |
T |
C |
17: 24,896,591 (GRCm39) |
Y223H |
probably damaging |
Het |
| Znhit6 |
G |
T |
3: 145,283,859 (GRCm39) |
C43F |
probably 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 |
|
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 |
|
|
IGL03232:Morc1
|
APN |
16 |
48,451,165 (GRCm39) |
missense |
probably benign |
0.06 |
|
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 |
2015-04-16 |
Incidental Mutation