Incidental Mutation 'R9571:Morc3'
| ID |
722017 |
| 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 # |
R9571 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
93629009-93672961 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 93641107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 46
(N46K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044068]
[ENSMUST00000201097]
[ENSMUST00000201754]
[ENSMUST00000202261]
|
| AlphaFold |
F7BJB9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044068
AA Change: N46K
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000040152
Gene: ENSMUSG00000039456
AA Change: N46K
| 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 |
possibly damaging
Transcript: ENSMUST00000201754
AA Change: N46K
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000144357
Gene: ENSMUSG00000039456
AA Change: N46K
| 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 |
possibly damaging
Transcript: ENSMUST00000202261
AA Change: N46K
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144369
Gene: ENSMUSG00000039456
AA Change: N46K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020A23Rik |
A |
G |
2: 130,247,482 (GRCm39) |
D6G |
probably benign |
Het |
| Abl2 |
T |
G |
1: 156,469,084 (GRCm39) |
S783A |
probably damaging |
Het |
| Adamtsl1 |
A |
T |
4: 86,117,543 (GRCm39) |
T169S |
probably benign |
Het |
| Adcy9 |
A |
G |
16: 4,141,653 (GRCm39) |
V621A |
probably benign |
Het |
| Ahnak2 |
T |
C |
12: 112,742,510 (GRCm39) |
S521G |
possibly damaging |
Het |
| Ap2m1 |
G |
A |
16: 20,360,037 (GRCm39) |
G213R |
probably damaging |
Het |
| Apol11b |
C |
T |
15: 77,524,771 (GRCm39) |
E5K |
possibly damaging |
Het |
| Arl4d |
T |
C |
11: 101,558,032 (GRCm39) |
M186T |
possibly damaging |
Het |
| Cep192 |
A |
G |
18: 67,952,109 (GRCm39) |
D428G |
probably damaging |
Het |
| Ckap5 |
A |
C |
2: 91,387,953 (GRCm39) |
D266A |
probably damaging |
Het |
| Crls1 |
A |
T |
2: 132,691,793 (GRCm39) |
N106I |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 48,655,398 (GRCm39) |
|
probably benign |
Het |
| Csnk1a1 |
A |
G |
18: 61,704,969 (GRCm39) |
R161G |
possibly damaging |
Het |
| Cyp4f39 |
T |
A |
17: 32,702,196 (GRCm39) |
I231N |
probably damaging |
Het |
| Ddx31 |
T |
A |
2: 28,750,034 (GRCm39) |
V352D |
probably damaging |
Het |
| Dna2 |
A |
G |
10: 62,800,740 (GRCm39) |
D758G |
probably damaging |
Het |
| Duxf4 |
G |
A |
10: 58,071,378 (GRCm39) |
L279F |
possibly damaging |
Het |
| Gatad2a |
C |
A |
8: 70,370,381 (GRCm39) |
A172S |
probably benign |
Het |
| Ghsr |
G |
T |
3: 27,426,664 (GRCm39) |
R240L |
probably benign |
Het |
| Gli3 |
T |
A |
13: 15,900,858 (GRCm39) |
M1415K |
probably benign |
Het |
| Glo1 |
G |
A |
17: 30,816,835 (GRCm39) |
T107I |
possibly damaging |
Het |
| Gm10800 |
AAAGAAAACTGAA |
ACAAGAAAACTGAA |
2: 98,497,378 (GRCm39) |
|
probably null |
Het |
| Gm17334 |
C |
T |
11: 53,663,760 (GRCm39) |
V34M |
unknown |
Het |
| Habp4 |
T |
A |
13: 64,322,615 (GRCm39) |
M228K |
probably benign |
Het |
| Hacl1 |
A |
G |
14: 31,344,838 (GRCm39) |
V257A |
possibly damaging |
Het |
| Ift122 |
T |
G |
6: 115,857,628 (GRCm39) |
S125A |
possibly damaging |
Het |
| Iqce |
C |
T |
5: 140,651,862 (GRCm39) |
D704N |
possibly damaging |
Het |
| Jcad |
T |
A |
18: 4,673,252 (GRCm39) |
L338* |
probably null |
Het |
| Kcnj13 |
T |
C |
1: 87,316,849 (GRCm39) |
D88G |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,305,098 (GRCm39) |
D942G |
probably damaging |
Het |
| Marchf8 |
T |
A |
6: 116,383,237 (GRCm39) |
S271T |
probably benign |
Het |
| Meis1 |
A |
G |
11: 18,961,378 (GRCm39) |
L165S |
probably damaging |
Het |
| Morc2b |
T |
A |
17: 33,355,178 (GRCm39) |
T865S |
probably benign |
Het |
| Mpzl1 |
C |
T |
1: 165,429,374 (GRCm39) |
C219Y |
probably benign |
Het |
| Mup5 |
A |
G |
4: 61,750,787 (GRCm39) |
|
probably null |
Het |
| Ninl |
A |
T |
2: 150,791,803 (GRCm39) |
W907R |
probably benign |
Het |
| Nol6 |
A |
T |
4: 41,120,156 (GRCm39) |
S491T |
probably benign |
Het |
| Or4f53 |
A |
T |
2: 111,088,083 (GRCm39) |
I208F |
probably benign |
Het |
| Or51g1 |
A |
G |
7: 102,634,221 (GRCm39) |
V50A |
probably benign |
Het |
| Or5b121 |
T |
A |
19: 13,507,697 (GRCm39) |
I264N |
probably damaging |
Het |
| Or6c205 |
C |
A |
10: 129,087,182 (GRCm39) |
P260T |
possibly damaging |
Het |
| Osbpl6 |
T |
A |
2: 76,425,191 (GRCm39) |
M919K |
probably benign |
Het |
| Otogl |
A |
T |
10: 107,598,364 (GRCm39) |
V2262E |
possibly damaging |
Het |
| Pcbp2 |
A |
G |
15: 102,383,113 (GRCm39) |
D77G |
possibly damaging |
Het |
| Pcsk7 |
G |
A |
9: 45,820,907 (GRCm39) |
R113Q |
possibly damaging |
Het |
| Pds5b |
T |
C |
5: 150,645,971 (GRCm39) |
I143T |
probably damaging |
Het |
| Polr2m |
T |
C |
9: 71,386,710 (GRCm39) |
E357G |
possibly damaging |
Het |
| Prox2 |
G |
A |
12: 85,141,766 (GRCm39) |
Q146* |
probably null |
Het |
| Ptprt |
A |
G |
2: 161,395,732 (GRCm39) |
V1167A |
probably benign |
Het |
| Rbm11 |
G |
A |
16: 75,397,543 (GRCm39) |
E158K |
possibly damaging |
Het |
| Sall2 |
A |
T |
14: 52,551,830 (GRCm39) |
V455E |
probably damaging |
Het |
| Sar1b |
T |
A |
11: 51,680,064 (GRCm39) |
L130Q |
probably damaging |
Het |
| Slc35f6 |
A |
G |
5: 30,815,180 (GRCm39) |
N369S |
possibly damaging |
Het |
| Slc39a12 |
A |
T |
2: 14,412,380 (GRCm39) |
M351L |
probably benign |
Het |
| Taf15 |
T |
A |
11: 83,395,487 (GRCm39) |
Y397* |
probably null |
Het |
| Tmprss11e |
A |
T |
5: 86,875,149 (GRCm39) |
V39D |
probably damaging |
Het |
| Trim71 |
T |
C |
9: 114,342,359 (GRCm39) |
D641G |
probably damaging |
Het |
| Trpc3 |
T |
A |
3: 36,694,909 (GRCm39) |
T682S |
probably damaging |
Het |
| Tsen54 |
T |
C |
11: 115,707,933 (GRCm39) |
|
probably null |
Het |
| Usp6nl |
A |
G |
2: 6,445,960 (GRCm39) |
N646D |
possibly damaging |
Het |
| Vip |
T |
C |
10: 5,590,661 (GRCm39) |
F12L |
probably benign |
Het |
| Vmn1r39 |
A |
T |
6: 66,781,572 (GRCm39) |
F249I |
probably benign |
Het |
| Vmn2r106 |
A |
T |
17: 20,505,641 (GRCm39) |
S18T |
probably benign |
Het |
| Vmn2r97 |
G |
T |
17: 19,149,919 (GRCm39) |
V436L |
probably benign |
Het |
| Washc2 |
T |
C |
6: 116,237,631 (GRCm39) |
|
probably null |
Het |
| Ykt6 |
T |
C |
11: 5,914,613 (GRCm39) |
V171A |
possibly damaging |
Het |
| Zfp658 |
A |
G |
7: 43,222,139 (GRCm39) |
D138G |
possibly damaging |
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 |
|
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 |
|
X0023:Morc3
|
UTSW |
16 |
93,644,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTCCTAGGAAATGAAGGCAG -3'
(R):5'- AACCACACTGTAGGCATAGC -3'
Sequencing Primer
(F):5'- CCTAGGAAATGAAGGCAGTTTATTC -3'
(R):5'- CACACTGTAGGCATAGCATTTCAGG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation