Incidental Mutation 'IGL01634:Morc3'
| ID |
93561 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Morc3
|
| Ensembl Gene |
ENSMUSG00000039456 |
| Gene Name |
microrchidia 3 |
| Synonyms |
Zcwcc3, D16Jhu32e, 1110051N18Rik, 1110051N18Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01634
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
93629009-93672961 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 93670125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 767
(V767I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044068]
[ENSMUST00000201097]
[ENSMUST00000202261]
|
| AlphaFold |
F7BJB9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044068
AA Change: V840I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000040152
Gene: ENSMUSG00000039456
AA Change: V840I
| 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
AA Change: V767I
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000144058
Gene: ENSMUSG00000039456
AA Change: V767I
| 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: V840I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000144369
Gene: ENSMUSG00000039456
AA Change: V840I
| 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
|
| Coding Region Coverage |
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034H15Rik |
A |
T |
1: 191,633,016 (GRCm39) |
|
noncoding transcript |
Het |
| 4933421I07Rik |
C |
T |
7: 42,097,123 (GRCm39) |
D63N |
probably benign |
Het |
| Alg9 |
C |
A |
9: 50,686,677 (GRCm39) |
|
probably null |
Het |
| Anln |
T |
C |
9: 22,271,771 (GRCm39) |
T695A |
probably benign |
Het |
| Aox4 |
G |
T |
1: 58,261,089 (GRCm39) |
D141Y |
possibly damaging |
Het |
| Arhgap21 |
C |
A |
2: 20,919,455 (GRCm39) |
Q84H |
probably benign |
Het |
| Arnt |
G |
A |
3: 95,377,709 (GRCm39) |
|
probably benign |
Het |
| Atp8a2 |
T |
A |
14: 60,235,511 (GRCm39) |
Y677F |
probably benign |
Het |
| Car6 |
C |
T |
4: 150,282,610 (GRCm39) |
V12M |
probably benign |
Het |
| Cd209d |
A |
T |
8: 3,927,974 (GRCm39) |
|
probably null |
Het |
| Ctnna1 |
T |
A |
18: 35,356,501 (GRCm39) |
V390E |
probably damaging |
Het |
| Cypt4 |
T |
A |
9: 24,536,952 (GRCm39) |
N147K |
possibly damaging |
Het |
| Dnah10 |
C |
A |
5: 124,898,405 (GRCm39) |
A3729E |
probably damaging |
Het |
| Dusp8 |
A |
G |
7: 141,638,160 (GRCm39) |
V156A |
probably benign |
Het |
| Ecm1 |
G |
A |
3: 95,642,211 (GRCm39) |
P458L |
probably damaging |
Het |
| Fat3 |
T |
G |
9: 15,909,654 (GRCm39) |
Y2116S |
probably damaging |
Het |
| Fscn3 |
T |
A |
6: 28,430,537 (GRCm39) |
Y236N |
probably damaging |
Het |
| Gaa |
G |
A |
11: 119,164,902 (GRCm39) |
S265N |
possibly damaging |
Het |
| Gas7 |
T |
C |
11: 67,565,057 (GRCm39) |
|
probably benign |
Het |
| Gbp8 |
T |
C |
5: 105,166,438 (GRCm39) |
K297R |
probably damaging |
Het |
| Gm1818 |
G |
A |
12: 48,602,992 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5114 |
G |
T |
7: 39,058,071 (GRCm39) |
T516K |
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,850,562 (GRCm39) |
S165P |
probably damaging |
Het |
| Hoxb4 |
G |
T |
11: 96,209,726 (GRCm39) |
R44L |
probably damaging |
Het |
| Ivd |
G |
A |
2: 118,706,863 (GRCm39) |
R285H |
probably damaging |
Het |
| Krtap20-2 |
T |
C |
16: 89,002,977 (GRCm39) |
F59S |
unknown |
Het |
| Megf8 |
G |
A |
7: 25,058,206 (GRCm39) |
|
probably benign |
Het |
| Mgat4d |
A |
T |
8: 84,094,745 (GRCm39) |
M261L |
possibly damaging |
Het |
| Mlc1 |
A |
T |
15: 88,858,921 (GRCm39) |
|
probably benign |
Het |
| Mmp20 |
T |
A |
9: 7,635,149 (GRCm39) |
Y43* |
probably null |
Het |
| Myo15a |
A |
G |
11: 60,386,298 (GRCm39) |
T1808A |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,791,562 (GRCm39) |
F574L |
probably damaging |
Het |
| Npas3 |
G |
A |
12: 53,993,946 (GRCm39) |
V164M |
probably damaging |
Het |
| Nptx1 |
A |
G |
11: 119,435,498 (GRCm39) |
Y273H |
probably damaging |
Het |
| Oaf |
T |
C |
9: 43,135,301 (GRCm39) |
N159S |
probably damaging |
Het |
| Or10a3n |
A |
T |
7: 108,493,292 (GRCm39) |
F107L |
probably benign |
Het |
| Or4c111 |
T |
A |
2: 88,843,788 (GRCm39) |
I207F |
probably damaging |
Het |
| Or5ak24 |
A |
T |
2: 85,260,783 (GRCm39) |
L130H |
probably damaging |
Het |
| Pgm2 |
T |
C |
5: 64,258,317 (GRCm39) |
F101L |
probably benign |
Het |
| Pkd1l3 |
A |
C |
8: 110,394,157 (GRCm39) |
|
probably null |
Het |
| Plcd1 |
C |
T |
9: 118,902,857 (GRCm39) |
R527H |
probably damaging |
Het |
| Rexo2 |
C |
T |
9: 48,380,215 (GRCm39) |
E206K |
probably damaging |
Het |
| Ropn1 |
C |
A |
16: 34,487,148 (GRCm39) |
T28N |
possibly damaging |
Het |
| Ropn1 |
A |
T |
16: 34,487,141 (GRCm39) |
I26F |
probably damaging |
Het |
| Rpgrip1l |
C |
A |
8: 91,979,171 (GRCm39) |
S998I |
probably benign |
Het |
| Rpgrip1l |
T |
A |
8: 91,979,172 (GRCm39) |
S998C |
probably benign |
Het |
| Scap |
T |
C |
9: 110,207,857 (GRCm39) |
|
probably null |
Het |
| Sec23b |
T |
C |
2: 144,401,150 (GRCm39) |
Y4H |
probably damaging |
Het |
| Sfrp4 |
C |
A |
13: 19,807,800 (GRCm39) |
D66E |
possibly damaging |
Het |
| Slc25a36 |
T |
C |
9: 96,962,534 (GRCm39) |
T13A |
probably benign |
Het |
| Synpr |
A |
T |
14: 13,608,576 (GRCm38) |
I119F |
possibly damaging |
Het |
| Tamm41 |
A |
C |
6: 114,993,059 (GRCm39) |
H109Q |
probably benign |
Het |
| Tet1 |
A |
T |
10: 62,714,367 (GRCm39) |
I476K |
possibly damaging |
Het |
| Tg |
A |
T |
15: 66,601,415 (GRCm39) |
I142F |
probably benign |
Het |
| Thada |
A |
T |
17: 84,700,786 (GRCm39) |
|
probably null |
Het |
| Triobp |
T |
C |
15: 78,877,568 (GRCm39) |
L1654P |
probably damaging |
Het |
| Trpm7 |
A |
G |
2: 126,668,738 (GRCm39) |
V726A |
probably damaging |
Het |
| Txndc15 |
T |
G |
13: 55,869,438 (GRCm39) |
V197G |
probably damaging |
Het |
| Ubr3 |
A |
T |
2: 69,803,916 (GRCm39) |
T1169S |
probably benign |
Het |
| Uhmk1 |
C |
T |
1: 170,034,682 (GRCm39) |
|
probably null |
Het |
| Vmn2r16 |
T |
A |
5: 109,488,177 (GRCm39) |
M350K |
probably benign |
Het |
| Vmn2r77 |
G |
A |
7: 86,460,857 (GRCm39) |
V728I |
probably benign |
Het |
| Wipf1 |
G |
A |
2: 73,278,225 (GRCm39) |
P7S |
unknown |
Het |
| Zswim3 |
A |
G |
2: 164,661,922 (GRCm39) |
D134G |
probably 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 |
|
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 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation