Incidental Mutation 'R6940:Morc1'
ID |
540517 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Morc1
|
Ensembl Gene |
ENSMUSG00000022652 |
Gene Name |
microrchidia 1 |
Synonyms |
|
MMRRC Submission |
045054-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.248)
|
Stock # |
R6940 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
48251600-48451263 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 48300208 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 235
(S235*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023330
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023330]
|
AlphaFold |
Q9WVL5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000023330
AA Change: S235*
|
SMART Domains |
Protein: ENSMUSP00000023330 Gene: ENSMUSG00000022652 AA Change: S235*
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 |
|
Meta Mutation Damage Score |
0.9717 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
Validation Efficiency |
100% (49/49) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg1 |
C |
A |
9: 54,516,381 (GRCm39) |
A667S |
probably benign |
Het |
Ank2 |
G |
A |
3: 126,735,621 (GRCm39) |
|
probably benign |
Het |
Arhgef28 |
A |
G |
13: 98,102,038 (GRCm39) |
L812P |
possibly damaging |
Het |
Armc5 |
C |
T |
7: 127,839,470 (GRCm39) |
R263* |
probably null |
Het |
Cadps2 |
A |
T |
6: 23,302,491 (GRCm39) |
V740E |
probably damaging |
Het |
Cckbr |
T |
C |
7: 105,084,103 (GRCm39) |
V279A |
probably benign |
Het |
Cd101 |
T |
C |
3: 100,911,018 (GRCm39) |
D880G |
probably damaging |
Het |
Cep350 |
A |
T |
1: 155,804,297 (GRCm39) |
S929T |
probably benign |
Het |
Chaf1b |
G |
A |
16: 93,702,853 (GRCm39) |
R556H |
probably benign |
Het |
Csn1s1 |
A |
T |
5: 87,822,882 (GRCm39) |
Q69L |
possibly damaging |
Het |
Dennd1b |
T |
C |
1: 138,981,155 (GRCm39) |
|
probably null |
Het |
Dnah11 |
T |
C |
12: 118,162,503 (GRCm39) |
D22G |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,670,836 (GRCm39) |
H472R |
probably benign |
Het |
Dnah7b |
G |
A |
1: 46,158,428 (GRCm39) |
R337H |
probably benign |
Het |
Eif2ak3 |
T |
C |
6: 70,869,386 (GRCm39) |
V691A |
possibly damaging |
Het |
Ern2 |
T |
C |
7: 121,785,369 (GRCm39) |
R3G |
probably benign |
Het |
Fat3 |
T |
C |
9: 15,828,096 (GRCm39) |
|
probably null |
Het |
Fnbp4 |
T |
C |
2: 90,575,858 (GRCm39) |
F20L |
unknown |
Het |
Gtf2b |
C |
A |
3: 142,484,016 (GRCm39) |
D63E |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,217,243 (GRCm39) |
Y1377C |
probably damaging |
Het |
Klf1 |
A |
G |
8: 85,628,724 (GRCm39) |
T41A |
possibly damaging |
Het |
Lce3d |
G |
A |
3: 92,865,541 (GRCm39) |
S52N |
unknown |
Het |
Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
Lrrfip1 |
T |
A |
1: 91,050,135 (GRCm39) |
|
probably null |
Het |
Ltbp4 |
A |
C |
7: 27,008,369 (GRCm39) |
V1313G |
probably damaging |
Het |
Mr1 |
T |
G |
1: 155,005,014 (GRCm39) |
*342S |
probably null |
Het |
Muc21 |
C |
A |
17: 35,934,118 (GRCm39) |
|
probably benign |
Het |
Nol4l |
T |
A |
2: 153,253,684 (GRCm39) |
S630C |
probably benign |
Het |
Nr4a3 |
C |
T |
4: 48,051,486 (GRCm39) |
P80L |
probably benign |
Het |
Or51a43 |
A |
G |
7: 103,717,620 (GRCm39) |
I206T |
possibly damaging |
Het |
Otof |
A |
G |
5: 30,528,987 (GRCm39) |
V1807A |
probably damaging |
Het |
Pde5a |
T |
A |
3: 122,572,681 (GRCm39) |
V354E |
possibly damaging |
Het |
Pmfbp1 |
A |
T |
8: 110,251,823 (GRCm39) |
E355D |
probably damaging |
Het |
Ppp2r2c |
A |
G |
5: 37,084,875 (GRCm39) |
D112G |
probably damaging |
Het |
Prkacb |
A |
T |
3: 146,457,254 (GRCm39) |
I37N |
probably damaging |
Het |
Prox2 |
T |
C |
12: 85,141,348 (GRCm39) |
D285G |
probably benign |
Het |
Ranbp3l |
A |
G |
15: 9,041,792 (GRCm39) |
S61G |
probably benign |
Het |
Rnf214 |
T |
A |
9: 45,802,196 (GRCm39) |
T289S |
probably damaging |
Het |
Rnf217 |
G |
T |
10: 31,381,973 (GRCm39) |
|
probably null |
Het |
Sc5d |
A |
T |
9: 42,166,723 (GRCm39) |
M272K |
probably benign |
Het |
Slco6c1 |
T |
C |
1: 97,000,626 (GRCm39) |
T542A |
possibly damaging |
Het |
Sord |
T |
A |
2: 122,094,536 (GRCm39) |
I308N |
probably damaging |
Het |
Syvn1 |
A |
T |
19: 6,101,214 (GRCm39) |
|
probably benign |
Het |
Tas2r134 |
A |
G |
2: 51,518,148 (GRCm39) |
H209R |
probably benign |
Het |
Trak1 |
T |
C |
9: 121,272,784 (GRCm39) |
V214A |
possibly damaging |
Het |
Trpm5 |
C |
A |
7: 142,638,547 (GRCm39) |
E322* |
probably null |
Het |
Ttf2 |
T |
C |
3: 100,876,831 (GRCm39) |
T17A |
probably damaging |
Het |
Vmn2r53 |
T |
C |
7: 12,316,343 (GRCm39) |
E492G |
probably benign |
Het |
Xndc1 |
T |
C |
7: 101,727,094 (GRCm39) |
V161A |
probably benign |
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 |
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 |
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'- AGCATCGTTAGTTCTGGGAAAAG -3'
(R):5'- TCCTCTTGACAACCTGAGGAG -3'
Sequencing Primer
(F):5'- TGGCGTGATGAACTCTCAC -3'
(R):5'- GGGTTTGTAGAGGGAATAAC -3'
|
Posted On |
2018-11-06 |