Incidental Mutation 'IGL00763:Morc1'
| ID |
12058 |
| 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 # |
IGL00763
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
48251600-48451263 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 48432689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 719
(Q719P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023330
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023330]
|
| AlphaFold |
Q9WVL5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023330
AA Change: Q719P
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023330
Gene: ENSMUSG00000022652
AA Change: Q719P
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bmp3 |
A |
C |
5: 99,020,238 (GRCm39) |
R220S |
possibly damaging |
Het |
| Bms1 |
A |
G |
6: 118,395,363 (GRCm39) |
|
probably benign |
Het |
| Ccdc138 |
T |
A |
10: 58,411,537 (GRCm39) |
F635Y |
probably damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,518,823 (GRCm39) |
|
probably benign |
Het |
| Cntnap5a |
T |
C |
1: 116,045,407 (GRCm39) |
I341T |
possibly damaging |
Het |
| Cog5 |
C |
T |
12: 31,715,531 (GRCm39) |
|
probably benign |
Het |
| Dcaf4 |
G |
A |
12: 83,586,107 (GRCm39) |
R358H |
probably damaging |
Het |
| Ddx10 |
A |
C |
9: 53,071,326 (GRCm39) |
|
probably benign |
Het |
| Fgf15 |
T |
A |
7: 144,453,629 (GRCm39) |
F201I |
probably damaging |
Het |
| Galp |
A |
G |
7: 6,211,499 (GRCm39) |
Y40C |
probably damaging |
Het |
| Ints6 |
A |
G |
14: 62,938,314 (GRCm39) |
|
probably benign |
Het |
| Iqcb1 |
A |
T |
16: 36,676,649 (GRCm39) |
|
probably benign |
Het |
| Kif19a |
G |
A |
11: 114,657,994 (GRCm39) |
V18I |
probably benign |
Het |
| Lypd8l |
T |
G |
11: 58,503,707 (GRCm39) |
|
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,727,076 (GRCm39) |
D568G |
probably damaging |
Het |
| Plscr4 |
A |
G |
9: 92,366,998 (GRCm39) |
E204G |
probably null |
Het |
| Rasgrf1 |
A |
G |
9: 89,853,073 (GRCm39) |
T403A |
probably benign |
Het |
| Sec16b |
A |
G |
1: 157,356,827 (GRCm39) |
T12A |
probably benign |
Het |
| Slc12a7 |
A |
T |
13: 73,942,201 (GRCm39) |
N359I |
possibly damaging |
Het |
| Slc14a2 |
G |
T |
18: 78,235,453 (GRCm39) |
D241E |
probably damaging |
Het |
| Slc23a2 |
G |
T |
2: 131,943,420 (GRCm39) |
A27E |
probably benign |
Het |
| Slc38a8 |
T |
C |
8: 120,220,958 (GRCm39) |
I200M |
probably benign |
Het |
| Thrap3 |
C |
T |
4: 126,059,371 (GRCm39) |
G892S |
probably benign |
Het |
| Tmc6 |
A |
G |
11: 117,669,872 (GRCm39) |
L20P |
probably damaging |
Het |
| Tnfsfm13 |
T |
C |
11: 69,575,536 (GRCm39) |
D256G |
probably benign |
Het |
| Tonsl |
C |
T |
15: 76,518,068 (GRCm39) |
A605T |
probably damaging |
Het |
| Usp28 |
A |
G |
9: 48,939,463 (GRCm39) |
T240A |
probably benign |
Het |
| Zap70 |
A |
T |
1: 36,818,333 (GRCm39) |
D340V |
possibly damaging |
Het |
| Zfp512b |
A |
T |
2: 181,231,944 (GRCm39) |
F100I |
probably damaging |
Het |
|
| Other mutations in Morc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2012-12-06 |
Incidental Mutation