Incidental Mutation 'R5342:Morc1'
| ID |
422409 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Morc1
|
| Ensembl Gene |
ENSMUSG00000022652 |
| Gene Name |
microrchidia 1 |
| Synonyms |
|
| MMRRC Submission |
042921-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.281)
|
| Stock # |
R5342 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
48251600-48451263 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 48438872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Tryptophan
at position 756
(G756W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023330
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023330]
|
| AlphaFold |
Q9WVL5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023330
AA Change: G756W
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000023330
Gene: ENSMUSG00000022652
AA Change: G756W
| 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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrb3 |
A |
C |
8: 27,716,809 (GRCm39) |
Y392* |
probably null |
Het |
| Arap1 |
G |
A |
7: 101,054,167 (GRCm39) |
E1330K |
probably benign |
Het |
| Atg2b |
G |
T |
12: 105,625,175 (GRCm39) |
D600E |
possibly damaging |
Het |
| Atp1b2 |
C |
T |
11: 69,493,654 (GRCm39) |
V142I |
probably damaging |
Het |
| AW551984 |
A |
T |
9: 39,505,847 (GRCm39) |
M450K |
probably damaging |
Het |
| Bcar3 |
A |
G |
3: 122,220,298 (GRCm39) |
D65G |
probably damaging |
Het |
| Ccnt2 |
T |
C |
1: 127,719,470 (GRCm39) |
|
silent |
Het |
| Cdca7l |
A |
G |
12: 117,840,768 (GRCm39) |
Y430C |
probably damaging |
Het |
| Ces4a |
A |
G |
8: 105,872,775 (GRCm39) |
T343A |
probably benign |
Het |
| Clec2g |
C |
T |
6: 128,925,714 (GRCm39) |
A41V |
probably benign |
Het |
| Crybg3 |
A |
T |
16: 59,342,512 (GRCm39) |
Y2708N |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,502,803 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
A |
T |
18: 50,084,302 (GRCm39) |
E2758V |
probably damaging |
Het |
| Eci2 |
C |
T |
13: 35,162,707 (GRCm39) |
E283K |
probably benign |
Het |
| Edrf1 |
T |
A |
7: 133,253,639 (GRCm39) |
|
probably null |
Het |
| Eif3b |
T |
C |
5: 140,411,035 (GRCm39) |
L162P |
probably damaging |
Het |
| Ercc3 |
A |
G |
18: 32,378,648 (GRCm39) |
I210V |
probably benign |
Het |
| Exoc1 |
A |
G |
5: 76,714,861 (GRCm39) |
N739S |
probably damaging |
Het |
| Gm7334 |
A |
G |
17: 51,005,782 (GRCm39) |
K23E |
probably benign |
Het |
| Gm7356 |
T |
G |
17: 14,221,360 (GRCm39) |
D223A |
possibly damaging |
Het |
| Klhl26 |
A |
G |
8: 70,908,215 (GRCm39) |
L47P |
probably damaging |
Het |
| Klhl42 |
C |
T |
6: 146,993,784 (GRCm39) |
T252I |
possibly damaging |
Het |
| Mroh2b |
G |
T |
15: 4,943,615 (GRCm39) |
E384* |
probably null |
Het |
| Nol10 |
G |
A |
12: 17,419,621 (GRCm39) |
|
probably null |
Het |
| Nxpe5 |
T |
C |
5: 138,237,503 (GRCm39) |
L9P |
probably damaging |
Het |
| Or2r3 |
A |
G |
6: 42,448,836 (GRCm39) |
I92T |
probably damaging |
Het |
| Or52z12 |
C |
T |
7: 103,234,035 (GRCm39) |
R269C |
probably benign |
Het |
| Or7e166 |
A |
G |
9: 19,624,333 (GRCm39) |
D70G |
probably damaging |
Het |
| Pak2 |
T |
C |
16: 31,863,306 (GRCm39) |
E94G |
probably damaging |
Het |
| Pcdha7 |
A |
G |
18: 37,107,724 (GRCm39) |
K250E |
possibly damaging |
Het |
| Pde8b |
T |
C |
13: 95,178,498 (GRCm39) |
T541A |
probably damaging |
Het |
| Peg3 |
A |
T |
7: 6,712,969 (GRCm39) |
I751N |
probably damaging |
Het |
| Prpsap2 |
T |
C |
11: 61,622,396 (GRCm39) |
D269G |
probably damaging |
Het |
| Raver2 |
C |
A |
4: 100,959,889 (GRCm39) |
T123K |
possibly damaging |
Het |
| Rpgrip1 |
G |
A |
14: 52,382,666 (GRCm39) |
D600N |
possibly damaging |
Het |
| Scn2b |
A |
G |
9: 45,036,816 (GRCm39) |
Y108C |
probably damaging |
Het |
| Sdr16c6 |
T |
C |
4: 4,069,923 (GRCm39) |
E139G |
probably damaging |
Het |
| Sgpp2 |
A |
G |
1: 78,336,825 (GRCm39) |
I68V |
probably benign |
Het |
| Sorbs2 |
T |
A |
8: 46,249,050 (GRCm39) |
I687N |
probably damaging |
Het |
| Sorcs3 |
G |
A |
19: 48,784,911 (GRCm39) |
|
probably null |
Het |
| Stk16 |
T |
A |
1: 75,189,609 (GRCm39) |
C174S |
probably benign |
Het |
| Styxl2 |
T |
C |
1: 165,937,819 (GRCm39) |
E80G |
probably benign |
Het |
| Ttll9 |
C |
A |
2: 152,833,572 (GRCm39) |
N198K |
possibly damaging |
Het |
| Unc13c |
A |
T |
9: 73,838,105 (GRCm39) |
D915E |
probably benign |
Het |
| Unc5b |
T |
A |
10: 60,614,046 (GRCm39) |
K268* |
probably null |
Het |
| Vim |
T |
A |
2: 13,584,824 (GRCm39) |
|
probably null |
Het |
| Xirp2 |
T |
A |
2: 67,343,805 (GRCm39) |
N2015K |
probably damaging |
Het |
| Zfp160 |
T |
G |
17: 21,240,995 (GRCm39) |
M21R |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTGTTTAATCAATGCTATCCCC -3'
(R):5'- TCAATACAGCATGTGGGAAAAC -3'
Sequencing Primer
(F):5'- TTAATCAATGCTATCCCCAAACCTTG -3'
(R):5'- GCTTTGAGAAGGCATTGGT -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation