Incidental Mutation 'R1603:Morc3'
| ID |
176288 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Morc3
|
| Ensembl Gene |
ENSMUSG00000039456 |
| Gene Name |
microrchidia 3 |
| Synonyms |
Zcwcc3, D16Jhu32e, 1110051N18Rik, 1110051N18Rik |
| MMRRC Submission |
039640-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1603 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
93629009-93672961 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 93663391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 531
(N531K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044068]
[ENSMUST00000201097]
[ENSMUST00000202261]
|
| AlphaFold |
F7BJB9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044068
AA Change: N531K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000040152
Gene: ENSMUSG00000039456
AA Change: N531K
| 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 benign
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: ENSMUST00000202261
AA Change: N531K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144369
Gene: ENSMUSG00000039456
AA Change: N531K
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.3%
|
| Validation Efficiency |
96% (65/68) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110032F04Rik |
G |
A |
3: 68,777,546 (GRCm39) |
S169N |
probably benign |
Het |
| Ace |
T |
A |
11: 105,862,925 (GRCm39) |
S315R |
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,333,767 (GRCm39) |
I1491V |
probably benign |
Het |
| Adrb2 |
A |
T |
18: 62,312,579 (GRCm39) |
M82K |
probably damaging |
Het |
| Aebp2 |
A |
G |
6: 140,587,979 (GRCm39) |
N350D |
probably damaging |
Het |
| Ankrd42 |
T |
C |
7: 92,268,899 (GRCm39) |
|
probably benign |
Het |
| Asap1 |
A |
T |
15: 64,001,106 (GRCm39) |
C492S |
probably damaging |
Het |
| Atp8b3 |
C |
A |
10: 80,361,619 (GRCm39) |
A768S |
probably benign |
Het |
| Chga |
T |
A |
12: 102,530,866 (GRCm39) |
|
probably null |
Het |
| Clca4b |
A |
G |
3: 144,627,780 (GRCm39) |
V397A |
probably benign |
Het |
| Cntnap5a |
A |
C |
1: 116,339,831 (GRCm39) |
T697P |
possibly damaging |
Het |
| Col12a1 |
T |
C |
9: 79,520,244 (GRCm39) |
Q2810R |
probably damaging |
Het |
| Dchs1 |
G |
T |
7: 105,411,977 (GRCm39) |
R1380S |
probably benign |
Het |
| Dgkg |
T |
A |
16: 22,388,909 (GRCm39) |
|
probably benign |
Het |
| Dlgap3 |
G |
A |
4: 127,089,021 (GRCm39) |
G206R |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,295,131 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,449,326 (GRCm39) |
I4243L |
probably benign |
Het |
| Eif1ad16 |
C |
A |
12: 87,985,134 (GRCm39) |
E136D |
probably benign |
Het |
| Fbxw22 |
G |
T |
9: 109,207,915 (GRCm39) |
P452H |
probably benign |
Het |
| Fgl1 |
T |
A |
8: 41,650,055 (GRCm39) |
D242V |
probably damaging |
Het |
| Gba2 |
C |
T |
4: 43,567,823 (GRCm39) |
G794R |
probably damaging |
Het |
| Gimap7 |
A |
T |
6: 48,700,864 (GRCm39) |
D150V |
probably damaging |
Het |
| Gm5334 |
T |
C |
7: 68,268,620 (GRCm39) |
V13A |
probably benign |
Het |
| Grk5 |
T |
C |
19: 61,057,800 (GRCm39) |
F167L |
probably benign |
Het |
| Ice1 |
A |
G |
13: 70,751,472 (GRCm39) |
L1538P |
probably benign |
Het |
| Idh2 |
T |
G |
7: 79,748,906 (GRCm39) |
E125A |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,752,858 (GRCm39) |
|
probably null |
Het |
| Kras |
A |
T |
6: 145,170,871 (GRCm39) |
L168* |
probably null |
Het |
| Lrrc66 |
G |
A |
5: 73,764,769 (GRCm39) |
S758L |
possibly damaging |
Het |
| Mak |
T |
C |
13: 41,195,582 (GRCm39) |
D377G |
possibly damaging |
Het |
| Matn2 |
T |
C |
15: 34,388,914 (GRCm39) |
C335R |
probably damaging |
Het |
| Mcoln2 |
C |
T |
3: 145,885,977 (GRCm39) |
S276F |
probably damaging |
Het |
| Obp2a |
G |
A |
2: 25,592,757 (GRCm39) |
S175N |
probably benign |
Het |
| Or2ak6 |
T |
C |
11: 58,593,286 (GRCm39) |
V253A |
probably benign |
Het |
| Or4n4b |
T |
G |
14: 50,536,491 (GRCm39) |
I92L |
possibly damaging |
Het |
| Or5an1b |
A |
T |
19: 12,299,348 (GRCm39) |
V281E |
probably damaging |
Het |
| Osbpl3 |
C |
A |
6: 50,300,073 (GRCm39) |
K510N |
probably damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,566,365 (GRCm39) |
S1026F |
probably damaging |
Het |
| Pom121l2 |
A |
T |
13: 22,167,514 (GRCm39) |
D595V |
probably damaging |
Het |
| Poteg |
T |
A |
8: 27,938,033 (GRCm39) |
M1K |
probably null |
Het |
| Rbl1 |
G |
A |
2: 157,017,579 (GRCm39) |
L547F |
possibly damaging |
Het |
| Rpap3 |
T |
C |
15: 97,599,002 (GRCm39) |
T82A |
possibly damaging |
Het |
| Sema7a |
G |
A |
9: 57,867,959 (GRCm39) |
D512N |
probably benign |
Het |
| Sgpl1 |
C |
T |
10: 60,941,230 (GRCm39) |
V294M |
possibly damaging |
Het |
| Slc22a28 |
A |
G |
19: 8,040,674 (GRCm39) |
S526P |
probably damaging |
Het |
| Spata31e2 |
T |
A |
1: 26,724,650 (GRCm39) |
R177W |
probably damaging |
Het |
| Tent2 |
G |
A |
13: 93,312,073 (GRCm39) |
A209V |
probably benign |
Het |
| Trim30b |
T |
G |
7: 104,015,019 (GRCm39) |
Q123P |
possibly damaging |
Het |
| Trpm5 |
A |
G |
7: 142,638,946 (GRCm39) |
L275P |
probably benign |
Het |
| Ttc33 |
A |
G |
15: 5,219,275 (GRCm39) |
E71G |
probably damaging |
Het |
| Unc13d |
T |
C |
11: 115,964,481 (GRCm39) |
T288A |
possibly damaging |
Het |
| Unc93a |
T |
A |
17: 13,328,521 (GRCm39) |
E444V |
probably benign |
Het |
| Usf3 |
T |
A |
16: 44,038,535 (GRCm39) |
M1005K |
probably benign |
Het |
| Vmn2r91 |
T |
C |
17: 18,326,405 (GRCm39) |
I230T |
probably benign |
Het |
| Wdr49 |
G |
A |
3: 75,304,177 (GRCm39) |
Q448* |
probably null |
Het |
| Zfp939 |
T |
A |
7: 39,122,695 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
|
R5399:Morc3
|
UTSW |
16 |
93,659,427 (GRCm39) |
splice site |
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'- TGCAGGCTCATTCAGTTTACTGGTC -3'
(R):5'- GGGGAAAATCCTGGACACCTTTCAC -3'
Sequencing Primer
(F):5'- AGAAAGAGATTGCGTGTATCTTG -3'
(R):5'- ACCTTTCACATTCACATGAACTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation