Incidental Mutation 'R9235:Morc3'
| ID |
700448 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Morc3
|
| Ensembl Gene |
ENSMUSG00000039456 |
| Gene Name |
microrchidia 3 |
| Synonyms |
Zcwcc3, D16Jhu32e, 1110051N18Rik, 1110051N18Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9235 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
93629009-93672961 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93659321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 410
(W410R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044068]
[ENSMUST00000201097]
[ENSMUST00000201754]
[ENSMUST00000202261]
|
| AlphaFold |
F7BJB9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044068
AA Change: W410R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040152
Gene: ENSMUSG00000039456
AA Change: W410R
| 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 damaging
Transcript: ENSMUST00000201097
AA Change: W339R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144058
Gene: ENSMUSG00000039456
AA Change: W339R
| 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 damaging
Transcript: ENSMUST00000202261
AA Change: W410R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144369
Gene: ENSMUSG00000039456
AA Change: W410R
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (59/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
A |
18: 6,623,518 (GRCm39) |
I76N |
possibly damaging |
Het |
| 4930558K02Rik |
T |
C |
1: 161,780,172 (GRCm39) |
H114R |
possibly damaging |
Het |
| C2 |
T |
C |
17: 35,083,845 (GRCm39) |
D414G |
probably damaging |
Het |
| Catsper4 |
C |
T |
4: 133,954,606 (GRCm39) |
D15N |
probably benign |
Het |
| Ccnb2 |
A |
G |
9: 70,318,163 (GRCm39) |
V203A |
probably damaging |
Het |
| Cd2 |
A |
G |
3: 101,195,159 (GRCm39) |
F13L |
probably benign |
Het |
| Cwf19l1 |
G |
A |
19: 44,113,275 (GRCm39) |
A227V |
probably damaging |
Het |
| Dis3l2 |
G |
A |
1: 86,749,061 (GRCm39) |
D176N |
possibly damaging |
Het |
| Dmpk |
T |
G |
7: 18,822,141 (GRCm39) |
N366K |
probably damaging |
Het |
| Dnajb12 |
C |
T |
10: 59,728,799 (GRCm39) |
T229I |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,907,987 (GRCm39) |
D4479G |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,833,674 (GRCm39) |
E126V |
probably null |
Het |
| Fbxo27 |
T |
A |
7: 28,397,756 (GRCm39) |
Y264* |
probably null |
Het |
| Fign |
A |
G |
2: 63,810,907 (GRCm39) |
M121T |
probably damaging |
Het |
| Flt3 |
T |
C |
5: 147,320,202 (GRCm39) |
Y54C |
possibly damaging |
Het |
| Frmd4a |
G |
A |
2: 4,599,366 (GRCm39) |
R460H |
probably damaging |
Het |
| Igkv4-53 |
A |
T |
6: 69,626,301 (GRCm39) |
I13N |
possibly damaging |
Het |
| Islr |
T |
A |
9: 58,064,944 (GRCm39) |
I188F |
possibly damaging |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Klra3 |
A |
T |
6: 130,311,218 (GRCm39) |
C54* |
probably null |
Het |
| Klrb1b |
A |
G |
6: 128,795,547 (GRCm39) |
F140S |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,504,997 (GRCm39) |
E3437G |
probably damaging |
Het |
| Mdn1 |
C |
A |
4: 32,739,122 (GRCm39) |
L3648I |
probably benign |
Het |
| Mlxipl |
C |
A |
5: 135,157,541 (GRCm39) |
T359K |
possibly damaging |
Het |
| Mrpl49 |
G |
A |
19: 6,105,147 (GRCm39) |
R105* |
probably null |
Het |
| Myom3 |
T |
A |
4: 135,541,653 (GRCm39) |
Y1415N |
probably damaging |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Nrap |
A |
T |
19: 56,330,760 (GRCm39) |
Y1100* |
probably null |
Het |
| Or14a257 |
A |
T |
7: 86,138,306 (GRCm39) |
V151E |
probably benign |
Het |
| Or5d43 |
A |
T |
2: 88,104,724 (GRCm39) |
I223N |
probably damaging |
Het |
| Or5t5 |
T |
C |
2: 86,616,548 (GRCm39) |
I158T |
probably benign |
Het |
| Or6c8b |
G |
T |
10: 128,882,051 (GRCm39) |
Q294K |
probably benign |
Het |
| Pank1 |
C |
A |
19: 34,856,197 (GRCm39) |
A94S |
probably benign |
Het |
| Pikfyve |
C |
A |
1: 65,299,188 (GRCm39) |
T1613K |
probably benign |
Het |
| Plbd2 |
T |
A |
5: 120,626,554 (GRCm39) |
I352L |
probably benign |
Het |
| Plec |
T |
C |
15: 76,059,701 (GRCm39) |
D3412G |
probably damaging |
Het |
| Plekhd1 |
T |
A |
12: 80,768,791 (GRCm39) |
Y425N |
possibly damaging |
Het |
| Plscr5 |
A |
G |
9: 92,086,417 (GRCm39) |
N129S |
possibly damaging |
Het |
| Prkdc |
T |
A |
16: 15,651,751 (GRCm39) |
M3796K |
probably damaging |
Het |
| Psme3 |
A |
T |
11: 101,211,594 (GRCm39) |
E213D |
possibly damaging |
Het |
| Ptprn2 |
G |
A |
12: 117,233,271 (GRCm39) |
|
probably null |
Het |
| Sema5a |
A |
G |
15: 32,619,034 (GRCm39) |
S521G |
probably benign |
Het |
| Slc34a2 |
A |
T |
5: 53,226,667 (GRCm39) |
M597L |
probably benign |
Het |
| Slc6a13 |
A |
G |
6: 121,301,984 (GRCm39) |
R189G |
probably damaging |
Het |
| Smyd4 |
G |
A |
11: 75,295,689 (GRCm39) |
E782K |
probably benign |
Het |
| Sspo |
T |
A |
6: 48,466,718 (GRCm39) |
C4078S |
probably damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Trim28 |
G |
A |
7: 12,763,490 (GRCm39) |
A544T |
probably benign |
Het |
| Ttc21a |
G |
T |
9: 119,774,559 (GRCm39) |
R271L |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,045,982 (GRCm39) |
L114P |
|
Het |
| Ugt1a2 |
A |
G |
1: 88,128,488 (GRCm39) |
R44G |
possibly damaging |
Het |
| Ulk4 |
G |
A |
9: 120,981,217 (GRCm39) |
T907I |
probably benign |
Het |
| Unc13a |
G |
T |
8: 72,115,912 (GRCm39) |
L97I |
probably benign |
Het |
| Uqcc6 |
A |
T |
10: 82,458,586 (GRCm39) |
C22S |
possibly damaging |
Het |
| Vmn1r25 |
A |
G |
6: 57,955,488 (GRCm39) |
L267P |
probably damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,810,238 (GRCm39) |
N341K |
probably damaging |
Het |
| Wdr3 |
T |
A |
3: 100,054,023 (GRCm39) |
Q534L |
probably benign |
Het |
| Zfp28 |
A |
T |
7: 6,397,605 (GRCm39) |
H680L |
probably damaging |
Het |
| Zfp986 |
T |
A |
4: 145,625,759 (GRCm39) |
F140I |
probably benign |
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 |
|
|
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 |
|
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'- GTGTGACTTAACTCCTGAAAGTTACC -3'
(R):5'- TTCTAGGCAGGAAAATCACATGG -3'
Sequencing Primer
(F):5'- GCAGATATATAGTGTGGAAAC -3'
(R):5'- GGAATAACACATCACAAGCACTGTTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation