Incidental Mutation 'R8275:Mcm4'
| ID |
637958 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcm4
|
| Ensembl Gene |
ENSMUSG00000022673 |
| Gene Name |
minichromosome maintenance complex component 4 |
| Synonyms |
mCdc21, Mcmd4, 19G, Cdc21 |
| MMRRC Submission |
067698-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8275 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
15441761-15455264 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15452435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 233
(I233V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023353
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023352]
[ENSMUST00000023353]
|
| AlphaFold |
P49717 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023352
|
| SMART Domains |
Protein: ENSMUSP00000023352
Gene: ENSMUSG00000022672
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
125 |
138 |
N/A |
INTRINSIC |
|
low complexity region
|
1253 |
1263 |
N/A |
INTRINSIC |
|
low complexity region
|
1508 |
1522 |
N/A |
INTRINSIC |
|
NUC194
|
1810 |
2206 |
2.37e-246 |
SMART |
|
SCOP:d1gw5a_
|
2210 |
2493 |
5e-3 |
SMART |
|
low complexity region
|
2669 |
2681 |
N/A |
INTRINSIC |
|
low complexity region
|
2841 |
2855 |
N/A |
INTRINSIC |
|
Pfam:FAT
|
3024 |
3470 |
8.2e-75 |
PFAM |
|
PI3Kc
|
3749 |
4068 |
3.67e-86 |
SMART |
|
FATC
|
4096 |
4128 |
1.57e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023353
AA Change: I233V
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023353
Gene: ENSMUSG00000022673
AA Change: I233V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
|
MCM
|
266 |
769 |
N/A |
SMART |
|
AAA
|
501 |
653 |
7.04e-3 |
SMART |
|
Blast:MCM
|
781 |
849 |
3e-11 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (39/39) |
| 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 MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 6 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of this protein by CDC2 kinase reduces the DNA helicase activity and chromatin binding of the MCM complex. This gene is mapped to a region on the chromosome 8 head-to-head next to the PRKDC/DNA-PK, a DNA-activated protein kinase involved in the repair of DNA double-strand breaks. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Disruption of this allele cause chromosomal instability as assessed by micronucleus levels in erythrocytes. Mice homozygous for a spontaneous allele exhibit early onset T cell acute lymphoblastic leukemia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alx1 |
T |
C |
10: 102,864,250 (GRCm39) |
D73G |
probably benign |
Het |
| Asah1 |
G |
A |
8: 41,801,159 (GRCm39) |
H156Y |
probably damaging |
Het |
| Cgn |
G |
A |
3: 94,682,263 (GRCm39) |
L439F |
possibly damaging |
Het |
| Creb1 |
C |
A |
1: 64,597,687 (GRCm39) |
T7K |
probably benign |
Het |
| Cyp2c54 |
T |
A |
19: 40,026,749 (GRCm39) |
I469L |
probably benign |
Het |
| Cyp2s1 |
T |
A |
7: 25,508,735 (GRCm39) |
T236S |
probably benign |
Het |
| Duox1 |
T |
C |
2: 122,175,249 (GRCm39) |
I1349T |
probably benign |
Het |
| Efhd2 |
C |
T |
4: 141,602,073 (GRCm39) |
A36T |
probably benign |
Het |
| Espl1 |
G |
A |
15: 102,211,188 (GRCm39) |
|
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 16,158,046 (GRCm39) |
Q1188L |
probably damaging |
Het |
| Flt1 |
A |
T |
5: 147,614,957 (GRCm39) |
Y330N |
probably damaging |
Het |
| Golga4 |
A |
T |
9: 118,361,627 (GRCm39) |
S202C |
probably damaging |
Het |
| Htr2b |
C |
T |
1: 86,030,294 (GRCm39) |
D134N |
probably damaging |
Het |
| Katna1 |
T |
A |
10: 7,628,574 (GRCm39) |
C268S |
probably damaging |
Het |
| Lama4 |
T |
C |
10: 38,948,807 (GRCm39) |
Y857H |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,950,667 (GRCm39) |
I3741T |
probably benign |
Het |
| Mettl22 |
T |
C |
16: 8,303,792 (GRCm39) |
V286A |
possibly damaging |
Het |
| Nav3 |
C |
A |
10: 109,527,984 (GRCm39) |
G1503V |
noncoding transcript |
Het |
| Obox1 |
T |
A |
7: 15,290,153 (GRCm39) |
N165K |
probably damaging |
Het |
| Or11g2 |
T |
A |
14: 50,855,868 (GRCm39) |
M63K |
probably damaging |
Het |
| Oxa1l |
T |
A |
14: 54,600,758 (GRCm39) |
I77N |
possibly damaging |
Het |
| Pakap |
T |
C |
4: 57,886,329 (GRCm39) |
|
probably null |
Het |
| Papss2 |
T |
C |
19: 32,615,760 (GRCm39) |
L164P |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,292,501 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
G |
A |
11: 69,638,882 (GRCm39) |
R51C |
probably damaging |
Het |
| Rsph10b |
C |
G |
5: 143,903,323 (GRCm39) |
T606S |
possibly damaging |
Het |
| Siglecg |
T |
C |
7: 43,061,892 (GRCm39) |
V546A |
probably benign |
Het |
| Slc22a29 |
T |
C |
19: 8,146,681 (GRCm39) |
S374G |
probably benign |
Het |
| Tia1 |
C |
T |
6: 86,404,718 (GRCm39) |
Q318* |
probably null |
Het |
| Trpm2 |
T |
A |
10: 77,801,859 (GRCm39) |
K69* |
probably null |
Het |
| Unc80 |
C |
T |
1: 66,679,773 (GRCm39) |
R2115* |
probably null |
Het |
| Usp35 |
A |
G |
7: 96,964,026 (GRCm39) |
S436P |
probably damaging |
Het |
| Vmn1r220 |
A |
T |
13: 23,368,483 (GRCm39) |
L71* |
probably null |
Het |
| Vmn2r15 |
A |
T |
5: 109,434,150 (GRCm39) |
D851E |
probably benign |
Het |
| Vps33a |
A |
T |
5: 123,707,522 (GRCm39) |
D148E |
probably damaging |
Het |
| Zfp729a |
G |
A |
13: 67,768,223 (GRCm39) |
H669Y |
probably benign |
Het |
| Zfp804b |
C |
T |
5: 6,822,289 (GRCm39) |
R258Q |
probably benign |
Het |
|
| Other mutations in Mcm4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01823:Mcm4
|
APN |
16 |
15,443,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01982:Mcm4
|
APN |
16 |
15,448,284 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02382:Mcm4
|
APN |
16 |
15,442,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4687001:Mcm4
|
UTSW |
16 |
15,454,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0200:Mcm4
|
UTSW |
16 |
15,447,503 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0540:Mcm4
|
UTSW |
16 |
15,449,979 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0607:Mcm4
|
UTSW |
16 |
15,449,979 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2064:Mcm4
|
UTSW |
16 |
15,452,333 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4240:Mcm4
|
UTSW |
16 |
15,445,570 (GRCm39) |
nonsense |
probably null |
|
|
R4604:Mcm4
|
UTSW |
16 |
15,447,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4871:Mcm4
|
UTSW |
16 |
15,452,374 (GRCm39) |
nonsense |
probably null |
|
|
R5070:Mcm4
|
UTSW |
16 |
15,443,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5125:Mcm4
|
UTSW |
16 |
15,453,167 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5178:Mcm4
|
UTSW |
16 |
15,453,167 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5245:Mcm4
|
UTSW |
16 |
15,448,289 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5513:Mcm4
|
UTSW |
16 |
15,448,378 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5696:Mcm4
|
UTSW |
16 |
15,443,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6453:Mcm4
|
UTSW |
16 |
15,448,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6753:Mcm4
|
UTSW |
16 |
15,447,226 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6909:Mcm4
|
UTSW |
16 |
15,446,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6937:Mcm4
|
UTSW |
16 |
15,454,199 (GRCm39) |
missense |
probably benign |
|
|
R7402:Mcm4
|
UTSW |
16 |
15,455,042 (GRCm39) |
start codon destroyed |
probably null |
|
|
R7483:Mcm4
|
UTSW |
16 |
15,448,306 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8487:Mcm4
|
UTSW |
16 |
15,450,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8683:Mcm4
|
UTSW |
16 |
15,453,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8742:Mcm4
|
UTSW |
16 |
15,443,430 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8929:Mcm4
|
UTSW |
16 |
15,448,289 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9138:Mcm4
|
UTSW |
16 |
15,447,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9440:Mcm4
|
UTSW |
16 |
15,453,175 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Mcm4
|
UTSW |
16 |
15,450,080 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
Z1177:Mcm4
|
UTSW |
16 |
15,447,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTACACAATCCTTGAGATCTC -3'
(R):5'- GAGCAGTTTTGTAGTTGAAGAGAAC -3'
Sequencing Primer
(F):5'- CTTGAGATCTCTTTCTACATAAGGC -3'
(R):5'- GAGAACCTTGAACTCCTGATTCTGTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation