Incidental Mutation 'IGL00847:Mcm8'
| ID |
12724 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mcm8
|
| Ensembl Gene |
ENSMUSG00000027353 |
| Gene Name |
minichromosome maintenance 8 homologous recombination repair factor |
| Synonyms |
5730432L01Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.693)
|
| Stock # |
IGL00847
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
132658061-132686117 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 132661594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 74
(L74V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066842
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028831]
[ENSMUST00000039554]
[ENSMUST00000066559]
|
| AlphaFold |
Q9CWV1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028831
AA Change: L102V
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000028831
Gene: ENSMUSG00000027353
AA Change: L102V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
62 |
N/A |
INTRINSIC |
|
Blast:MCM
|
79 |
155 |
2e-28 |
BLAST |
|
MCM
|
198 |
742 |
2.42e-136 |
SMART |
|
AAA
|
439 |
590 |
5.99e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039554
|
| SMART Domains |
Protein: ENSMUSP00000044687
Gene: ENSMUSG00000037376
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
Pfam:Gcd10p
|
20 |
302 |
7.2e-74 |
PFAM |
|
coiled coil region
|
345 |
364 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
456 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066559
AA Change: L74V
PolyPhen 2
Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000066842
Gene: ENSMUSG00000027353
AA Change: L74V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
15 |
N/A |
INTRINSIC |
|
Blast:MCM
|
51 |
127 |
2e-28 |
BLAST |
|
MCM
|
170 |
714 |
2.42e-136 |
SMART |
|
AAA
|
411 |
562 |
5.99e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127855
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135685
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145117
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147336
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the mini-chromosome maintenance proteins is a key component of the pre-replication complex and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein contains the central domain that is conserved among the mini-chromosome maintenance proteins. The encoded protein may interact with other mini-chromosome maintenance proteins and play a role in DNA replication. This gene may be associated with length of reproductive lifespan and menopause. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit female and male infertility associated with impaired ovarian development and arrested male meiosis, and impaired sensitivity to homologous recombination double-strand break repair. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
T |
C |
19: 57,140,722 (GRCm39) |
E142G |
possibly damaging |
Het |
| Arid4a |
C |
T |
12: 71,122,492 (GRCm39) |
P958S |
probably damaging |
Het |
| Cct5 |
T |
C |
15: 31,591,073 (GRCm39) |
|
probably benign |
Het |
| Cntnap4 |
C |
T |
8: 113,494,251 (GRCm39) |
|
probably benign |
Het |
| Col4a3 |
C |
T |
1: 82,695,590 (GRCm39) |
L1597F |
probably damaging |
Het |
| Gla |
C |
A |
X: 133,495,947 (GRCm39) |
V179L |
probably benign |
Het |
| Gm20422 |
A |
T |
8: 70,195,642 (GRCm39) |
C212* |
probably null |
Het |
| Hace1 |
T |
A |
10: 45,548,453 (GRCm39) |
Y14* |
probably null |
Het |
| Hcfc2 |
T |
A |
10: 82,577,112 (GRCm39) |
|
probably null |
Het |
| Helz2 |
T |
C |
2: 180,874,038 (GRCm39) |
D2152G |
possibly damaging |
Het |
| Lypd10 |
A |
G |
7: 24,413,673 (GRCm39) |
T230A |
probably benign |
Het |
| Myo18b |
A |
G |
5: 112,978,255 (GRCm39) |
|
probably benign |
Het |
| Ptprg |
A |
T |
14: 12,215,265 (GRCm38) |
N1084I |
probably damaging |
Het |
| Rad21l |
C |
A |
2: 151,502,635 (GRCm39) |
A192S |
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,501,078 (GRCm39) |
D80G |
probably damaging |
Het |
| Serpinb3c |
A |
G |
1: 107,203,990 (GRCm39) |
|
probably null |
Het |
| Sgip1 |
A |
G |
4: 102,786,118 (GRCm39) |
|
probably benign |
Het |
| Slc25a41 |
G |
T |
17: 57,341,957 (GRCm39) |
|
probably null |
Het |
| Snx14 |
C |
A |
9: 88,302,382 (GRCm39) |
R140S |
probably damaging |
Het |
| Svs6 |
A |
C |
2: 164,159,507 (GRCm39) |
K90T |
possibly damaging |
Het |
| Tlcd1 |
T |
A |
11: 78,070,914 (GRCm39) |
Y168N |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,811,978 (GRCm39) |
I3312T |
probably benign |
Het |
| Zfp11 |
A |
G |
5: 129,734,978 (GRCm39) |
V161A |
probably benign |
Het |
|
| Other mutations in Mcm8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00470:Mcm8
|
APN |
2 |
132,669,457 (GRCm39) |
missense |
probably benign |
|
|
IGL00479:Mcm8
|
APN |
2 |
132,659,094 (GRCm39) |
missense |
probably benign |
|
|
IGL00573:Mcm8
|
APN |
2 |
132,674,732 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00978:Mcm8
|
APN |
2 |
132,663,326 (GRCm39) |
missense |
probably benign |
|
|
IGL01390:Mcm8
|
APN |
2 |
132,679,998 (GRCm39) |
splice site |
probably benign |
|
|
IGL01785:Mcm8
|
APN |
2 |
132,669,868 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01786:Mcm8
|
APN |
2 |
132,669,868 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02216:Mcm8
|
APN |
2 |
132,681,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03191:Mcm8
|
APN |
2 |
132,663,362 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
madamina
|
UTSW |
2 |
132,674,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4687001:Mcm8
|
UTSW |
2 |
132,659,097 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0329:Mcm8
|
UTSW |
2 |
132,661,914 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0330:Mcm8
|
UTSW |
2 |
132,661,914 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1520:Mcm8
|
UTSW |
2 |
132,681,375 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1771:Mcm8
|
UTSW |
2 |
132,685,476 (GRCm39) |
nonsense |
probably null |
|
|
R1967:Mcm8
|
UTSW |
2 |
132,684,662 (GRCm39) |
missense |
probably benign |
|
|
R2228:Mcm8
|
UTSW |
2 |
132,662,041 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2418:Mcm8
|
UTSW |
2 |
132,666,658 (GRCm39) |
missense |
probably benign |
|
|
R4728:Mcm8
|
UTSW |
2 |
132,674,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4827:Mcm8
|
UTSW |
2 |
132,665,174 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4847:Mcm8
|
UTSW |
2 |
132,661,923 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4928:Mcm8
|
UTSW |
2 |
132,681,399 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4932:Mcm8
|
UTSW |
2 |
132,680,629 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4962:Mcm8
|
UTSW |
2 |
132,680,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6044:Mcm8
|
UTSW |
2 |
132,673,600 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6081:Mcm8
|
UTSW |
2 |
132,670,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6650:Mcm8
|
UTSW |
2 |
132,663,327 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6685:Mcm8
|
UTSW |
2 |
132,684,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7006:Mcm8
|
UTSW |
2 |
132,665,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7176:Mcm8
|
UTSW |
2 |
132,661,992 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7328:Mcm8
|
UTSW |
2 |
132,674,777 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7486:Mcm8
|
UTSW |
2 |
132,681,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7631:Mcm8
|
UTSW |
2 |
132,669,963 (GRCm39) |
missense |
not run |
|
|
R7664:Mcm8
|
UTSW |
2 |
132,685,453 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7820:Mcm8
|
UTSW |
2 |
132,682,692 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8090:Mcm8
|
UTSW |
2 |
132,673,569 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8228:Mcm8
|
UTSW |
2 |
132,684,714 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8738:Mcm8
|
UTSW |
2 |
132,665,141 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Mcm8
|
UTSW |
2 |
132,669,487 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation