Incidental Mutation 'R5399:Morc3'
| ID |
429903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Morc3
|
| Ensembl Gene |
ENSMUSG00000039456 |
| Gene Name |
microrchidia 3 |
| Synonyms |
Zcwcc3, D16Jhu32e, 1110051N18Rik, 1110051N18Rik |
| MMRRC Submission |
042970-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5399 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
93629009-93672961 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 93659427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044068]
[ENSMUST00000201097]
[ENSMUST00000201754]
[ENSMUST00000202261]
|
| AlphaFold |
F7BJB9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044068
|
| SMART Domains |
Protein: ENSMUSP00000040152
Gene: ENSMUSG00000039456
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HATPase_c
|
25 |
130 |
8e-8 |
PFAM |
|
Pfam:HATPase_c_3
|
26 |
164 |
1.1e-18 |
PFAM |
|
Pfam:zf-CW
|
409 |
452 |
2.7e-19 |
PFAM |
|
low complexity region
|
461 |
472 |
N/A |
INTRINSIC |
|
low complexity region
|
630 |
639 |
N/A |
INTRINSIC |
|
coiled coil region
|
765 |
871 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000201097
|
| SMART Domains |
Protein: ENSMUSP00000144058
Gene: ENSMUSG00000039456
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HATPase_c
|
1 |
70 |
4e-39 |
BLAST |
|
Pfam:zf-CW
|
340 |
383 |
1.2e-16 |
PFAM |
|
low complexity region
|
392 |
403 |
N/A |
INTRINSIC |
|
low complexity region
|
557 |
566 |
N/A |
INTRINSIC |
|
coiled coil region
|
692 |
798 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201754
|
| SMART Domains |
Protein: ENSMUSP00000144357
Gene: ENSMUSG00000039456
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HATPase_c
|
25 |
91 |
1.3e-6 |
PFAM |
|
Pfam:HATPase_c_3
|
26 |
92 |
1.2e-8 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202261
|
| SMART Domains |
Protein: ENSMUSP00000144369
Gene: ENSMUSG00000039456
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HATPase_c
|
25 |
130 |
8e-8 |
PFAM |
|
Pfam:HATPase_c_3
|
26 |
164 |
1.1e-18 |
PFAM |
|
Pfam:zf-CW
|
409 |
452 |
2.7e-19 |
PFAM |
|
low complexity region
|
461 |
472 |
N/A |
INTRINSIC |
|
low complexity region
|
630 |
639 |
N/A |
INTRINSIC |
|
coiled coil region
|
765 |
871 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232425
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232639
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that localizes to the nuclear matrix and forms nuclear bodies via an ATP-dependent mechanism. The protein is predicted to have coiled-coil and zinc finger domains and has RNA binding activity. Alternative splicing produces multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a null allele die at or within a day of birth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
G |
T |
2: 152,282,788 (GRCm39) |
L214F |
probably damaging |
Het |
| Abcb1b |
T |
C |
5: 8,877,410 (GRCm39) |
S657P |
probably benign |
Het |
| Abcb5 |
T |
A |
12: 118,875,234 (GRCm39) |
Y646F |
probably benign |
Het |
| Agl |
A |
T |
3: 116,575,277 (GRCm39) |
L620Q |
probably damaging |
Het |
| Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,391,743 (GRCm39) |
N1420S |
probably damaging |
Het |
| Barx2 |
A |
G |
9: 31,765,407 (GRCm39) |
|
probably null |
Het |
| Birc6 |
C |
A |
17: 74,911,573 (GRCm39) |
S28R |
possibly damaging |
Het |
| Bmal2 |
T |
G |
6: 146,724,159 (GRCm39) |
D350E |
probably damaging |
Het |
| Btbd19 |
G |
A |
4: 116,980,957 (GRCm39) |
A104V |
probably damaging |
Het |
| Casp4 |
A |
T |
9: 5,324,928 (GRCm39) |
K247* |
probably null |
Het |
| Ccdc196 |
A |
C |
12: 78,244,227 (GRCm39) |
N60T |
probably damaging |
Het |
| Clk4 |
T |
C |
11: 51,166,084 (GRCm39) |
Y17H |
probably damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,074,142 (GRCm39) |
Q722R |
probably benign |
Het |
| Col6a6 |
A |
G |
9: 105,586,306 (GRCm39) |
V1905A |
possibly damaging |
Het |
| Csmd1 |
C |
A |
8: 16,760,613 (GRCm39) |
G174V |
probably damaging |
Het |
| Cul1 |
T |
A |
6: 47,462,018 (GRCm39) |
|
probably null |
Het |
| Cux1 |
T |
C |
5: 136,281,458 (GRCm39) |
E568G |
possibly damaging |
Het |
| Dnaaf2 |
A |
G |
12: 69,243,516 (GRCm39) |
I515T |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,174,253 (GRCm39) |
I1868V |
possibly damaging |
Het |
| Fcgbp |
G |
T |
7: 27,804,480 (GRCm39) |
V1863L |
probably benign |
Het |
| G2e3 |
T |
C |
12: 51,403,977 (GRCm39) |
|
probably null |
Het |
| Gabrr2 |
T |
C |
4: 33,071,458 (GRCm39) |
|
probably null |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gbgt1 |
C |
T |
2: 28,393,230 (GRCm39) |
P106L |
probably damaging |
Het |
| Golga3 |
A |
G |
5: 110,352,890 (GRCm39) |
E927G |
probably damaging |
Het |
| Hfm1 |
T |
A |
5: 107,065,428 (GRCm39) |
I84F |
possibly damaging |
Het |
| Htt |
G |
T |
5: 35,034,495 (GRCm39) |
D1989Y |
probably damaging |
Het |
| Ihh |
C |
T |
1: 74,985,436 (GRCm39) |
A350T |
probably benign |
Het |
| Irx4 |
G |
C |
13: 73,413,658 (GRCm39) |
A43P |
probably benign |
Het |
| Itk |
A |
G |
11: 46,228,938 (GRCm39) |
V414A |
probably benign |
Het |
| Itsn2 |
A |
T |
12: 4,703,535 (GRCm39) |
I744L |
probably benign |
Het |
| Kdm5b |
G |
A |
1: 134,549,836 (GRCm39) |
|
probably null |
Het |
| Kif14 |
A |
G |
1: 136,431,062 (GRCm39) |
D1153G |
probably benign |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Msc |
A |
T |
1: 14,825,780 (GRCm39) |
C65S |
probably benign |
Het |
| Mybpc1 |
A |
G |
10: 88,358,876 (GRCm39) |
V343A |
probably damaging |
Het |
| Myo5c |
T |
C |
9: 75,195,356 (GRCm39) |
I1218T |
possibly damaging |
Het |
| Mypn |
C |
T |
10: 62,955,965 (GRCm39) |
V1163I |
probably benign |
Het |
| Obox3 |
A |
T |
7: 15,360,213 (GRCm39) |
M152K |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2t47 |
A |
G |
11: 58,442,969 (GRCm39) |
V32A |
probably benign |
Het |
| Or4c106 |
T |
A |
2: 88,682,999 (GRCm39) |
L235H |
probably damaging |
Het |
| Or4c3 |
T |
A |
2: 89,852,267 (GRCm39) |
T48S |
probably benign |
Het |
| Pcdhb21 |
G |
T |
18: 37,648,772 (GRCm39) |
V634L |
probably benign |
Het |
| Ppp1r9b |
G |
A |
11: 94,882,974 (GRCm39) |
A201T |
probably benign |
Het |
| Pramel25 |
T |
C |
4: 143,521,602 (GRCm39) |
F406S |
probably benign |
Het |
| Prss23 |
A |
T |
7: 89,159,174 (GRCm39) |
D298E |
probably benign |
Het |
| Rab4b |
A |
T |
7: 26,875,587 (GRCm39) |
N31K |
probably benign |
Het |
| Ros1 |
A |
G |
10: 51,967,040 (GRCm39) |
|
probably null |
Het |
| Rragb |
G |
A |
X: 151,923,550 (GRCm39) |
G24E |
probably damaging |
Het |
| Rtl1 |
A |
T |
12: 109,556,736 (GRCm39) |
L1701Q |
probably damaging |
Het |
| Sbno1 |
T |
A |
5: 124,530,804 (GRCm39) |
N831Y |
probably benign |
Het |
| Selp |
A |
G |
1: 163,954,155 (GRCm39) |
K152E |
possibly damaging |
Het |
| Sema4b |
A |
G |
7: 79,874,634 (GRCm39) |
T675A |
probably benign |
Het |
| Slc36a3 |
T |
C |
11: 55,037,006 (GRCm39) |
I100V |
possibly damaging |
Het |
| Slco1a4 |
T |
A |
6: 141,776,433 (GRCm39) |
I196F |
probably damaging |
Het |
| Spata13 |
G |
A |
14: 60,984,990 (GRCm39) |
S828N |
probably benign |
Het |
| Stard13 |
A |
T |
5: 150,971,266 (GRCm39) |
Y643* |
probably null |
Het |
| Tll1 |
T |
C |
8: 64,538,522 (GRCm39) |
H374R |
probably damaging |
Het |
| Trmt10a |
T |
A |
3: 137,853,265 (GRCm39) |
I42K |
probably damaging |
Het |
| Trmu |
A |
T |
15: 85,780,609 (GRCm39) |
|
probably null |
Het |
| Trp53 |
T |
A |
11: 69,479,372 (GRCm39) |
D183E |
probably benign |
Het |
| Ttc22 |
T |
G |
4: 106,493,954 (GRCm39) |
F305V |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,656,970 (GRCm39) |
F1077S |
possibly damaging |
Het |
| Utrn |
T |
A |
10: 12,516,727 (GRCm39) |
Q2289L |
probably damaging |
Het |
| Vmn1r65 |
C |
A |
7: 6,011,809 (GRCm39) |
E142* |
probably null |
Het |
| Vmn2r63 |
A |
T |
7: 42,577,701 (GRCm39) |
V279D |
probably benign |
Het |
| Zfp810 |
G |
A |
9: 22,190,125 (GRCm39) |
T261I |
possibly damaging |
Het |
| Zkscan17 |
A |
G |
11: 59,393,744 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Morc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00561:Morc3
|
APN |
16 |
93,670,283 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01015:Morc3
|
APN |
16 |
93,659,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01374:Morc3
|
APN |
16 |
93,641,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01634:Morc3
|
APN |
16 |
93,670,125 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01845:Morc3
|
APN |
16 |
93,657,455 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02202:Morc3
|
APN |
16 |
93,667,749 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02478:Morc3
|
APN |
16 |
93,661,844 (GRCm39) |
splice site |
probably benign |
|
|
IGL03026:Morc3
|
APN |
16 |
93,659,612 (GRCm39) |
splice site |
probably benign |
|
|
IGL03115:Morc3
|
APN |
16 |
93,667,971 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Ballista
|
UTSW |
16 |
93,638,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
mindy
|
UTSW |
16 |
93,663,421 (GRCm39) |
missense |
probably benign |
0.03 |
|
Pfaff
|
UTSW |
16 |
93,659,572 (GRCm39) |
missense |
probably damaging |
0.96 |
|
shield
|
UTSW |
16 |
93,671,700 (GRCm39) |
missense |
probably damaging |
0.98 |
|
sparkle
|
UTSW |
16 |
93,667,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Stooges
|
UTSW |
16 |
93,638,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Sword
|
UTSW |
16 |
93,671,645 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0173:Morc3
|
UTSW |
16 |
93,629,094 (GRCm39) |
splice site |
probably null |
|
|
R0413:Morc3
|
UTSW |
16 |
93,667,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0639:Morc3
|
UTSW |
16 |
93,650,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0842:Morc3
|
UTSW |
16 |
93,670,284 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1134:Morc3
|
UTSW |
16 |
93,667,557 (GRCm39) |
missense |
probably benign |
|
|
R1162:Morc3
|
UTSW |
16 |
93,649,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1498:Morc3
|
UTSW |
16 |
93,650,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1520:Morc3
|
UTSW |
16 |
93,641,129 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1603:Morc3
|
UTSW |
16 |
93,663,391 (GRCm39) |
missense |
probably benign |
|
|
R1622:Morc3
|
UTSW |
16 |
93,671,694 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1630:Morc3
|
UTSW |
16 |
93,663,421 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1818:Morc3
|
UTSW |
16 |
93,652,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1902:Morc3
|
UTSW |
16 |
93,667,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2090:Morc3
|
UTSW |
16 |
93,663,341 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2261:Morc3
|
UTSW |
16 |
93,650,109 (GRCm39) |
splice site |
probably benign |
|
|
R2360:Morc3
|
UTSW |
16 |
93,638,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2407:Morc3
|
UTSW |
16 |
93,641,215 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2519:Morc3
|
UTSW |
16 |
93,659,427 (GRCm39) |
splice site |
probably null |
|
|
R3736:Morc3
|
UTSW |
16 |
93,671,700 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3873:Morc3
|
UTSW |
16 |
93,659,324 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4114:Morc3
|
UTSW |
16 |
93,670,227 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4115:Morc3
|
UTSW |
16 |
93,670,227 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4116:Morc3
|
UTSW |
16 |
93,670,227 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4472:Morc3
|
UTSW |
16 |
93,671,645 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4609:Morc3
|
UTSW |
16 |
93,661,856 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4708:Morc3
|
UTSW |
16 |
93,670,126 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4883:Morc3
|
UTSW |
16 |
93,667,250 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4945:Morc3
|
UTSW |
16 |
93,668,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4965:Morc3
|
UTSW |
16 |
93,657,475 (GRCm39) |
nonsense |
probably null |
|
|
R5481:Morc3
|
UTSW |
16 |
93,659,543 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5540:Morc3
|
UTSW |
16 |
93,644,268 (GRCm39) |
missense |
probably benign |
|
|
R5970:Morc3
|
UTSW |
16 |
93,663,341 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6006:Morc3
|
UTSW |
16 |
93,663,381 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6044:Morc3
|
UTSW |
16 |
93,663,330 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6045:Morc3
|
UTSW |
16 |
93,671,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6155:Morc3
|
UTSW |
16 |
93,659,313 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6165:Morc3
|
UTSW |
16 |
93,638,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6225:Morc3
|
UTSW |
16 |
93,642,082 (GRCm39) |
nonsense |
probably null |
|
|
R6240:Morc3
|
UTSW |
16 |
93,659,572 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6835:Morc3
|
UTSW |
16 |
93,644,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6918:Morc3
|
UTSW |
16 |
93,650,023 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6944:Morc3
|
UTSW |
16 |
93,667,460 (GRCm39) |
missense |
probably benign |
|
|
R7311:Morc3
|
UTSW |
16 |
93,646,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7398:Morc3
|
UTSW |
16 |
93,671,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7553:Morc3
|
UTSW |
16 |
93,667,824 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8056:Morc3
|
UTSW |
16 |
93,642,064 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8299:Morc3
|
UTSW |
16 |
93,650,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8317:Morc3
|
UTSW |
16 |
93,659,417 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8542:Morc3
|
UTSW |
16 |
93,644,319 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8697:Morc3
|
UTSW |
16 |
93,667,908 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8739:Morc3
|
UTSW |
16 |
93,657,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9072:Morc3
|
UTSW |
16 |
93,667,482 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9235:Morc3
|
UTSW |
16 |
93,659,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9305:Morc3
|
UTSW |
16 |
93,667,302 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9405:Morc3
|
UTSW |
16 |
93,642,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9431:Morc3
|
UTSW |
16 |
93,667,771 (GRCm39) |
nonsense |
probably null |
|
|
R9440:Morc3
|
UTSW |
16 |
93,649,975 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9524:Morc3
|
UTSW |
16 |
93,667,401 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9571:Morc3
|
UTSW |
16 |
93,641,107 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
X0023:Morc3
|
UTSW |
16 |
93,644,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATTGGTGTGTGACTTAACTCCTG -3'
(R):5'- GGTCTGGACATCACTTTTCACC -3'
Sequencing Primer
(F):5'- GTGTGACTTAACTCCTGAAAGTTACC -3'
(R):5'- GCACAACACTCACGTCTTTTTATAGG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation