Incidental Mutation 'R4493:Mcph1'
ID |
330833 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mcph1
|
Ensembl Gene |
ENSMUSG00000039842 |
Gene Name |
microcephaly, primary autosomal recessive 1 |
Synonyms |
5430437K10Rik, D030046N04Rik, BRIT1 |
MMRRC Submission |
041748-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4493 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
18645147-18853205 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 18681752 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 296
(C296*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131616
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039412]
[ENSMUST00000124910]
[ENSMUST00000133417]
[ENSMUST00000141244]
[ENSMUST00000146819]
|
AlphaFold |
Q7TT79 |
Predicted Effect |
probably null
Transcript: ENSMUST00000039412
AA Change: C296*
|
SMART Domains |
Protein: ENSMUSP00000037000 Gene: ENSMUSG00000039842 AA Change: C296*
Domain | Start | End | E-Value | Type |
BRCT
|
13 |
89 |
2.64e-4 |
SMART |
coiled coil region
|
128 |
155 |
N/A |
INTRINSIC |
Pfam:Microcephalin
|
224 |
597 |
1.2e-143 |
PFAM |
BRCT
|
624 |
707 |
2.23e-2 |
SMART |
BRCT
|
740 |
810 |
1.55e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124910
|
SMART Domains |
Protein: ENSMUSP00000131698 Gene: ENSMUSG00000039842
Domain | Start | End | E-Value | Type |
BRCT
|
13 |
89 |
2.64e-4 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000133417
AA Change: C208*
|
SMART Domains |
Protein: ENSMUSP00000121636 Gene: ENSMUSG00000039842 AA Change: C208*
Domain | Start | End | E-Value | Type |
coiled coil region
|
14 |
41 |
N/A |
INTRINSIC |
Pfam:Microcephalin
|
136 |
256 |
2.4e-51 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141244
|
SMART Domains |
Protein: ENSMUSP00000119267 Gene: ENSMUSG00000039842
Domain | Start | End | E-Value | Type |
Blast:BRCT
|
2 |
38 |
2e-9 |
BLAST |
low complexity region
|
39 |
51 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000146819
AA Change: C296*
|
SMART Domains |
Protein: ENSMUSP00000131616 Gene: ENSMUSG00000039842 AA Change: C296*
Domain | Start | End | E-Value | Type |
BRCT
|
13 |
89 |
2.64e-4 |
SMART |
coiled coil region
|
128 |
155 |
N/A |
INTRINSIC |
Pfam:Microcephalin
|
224 |
598 |
1.4e-168 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153133
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
94% (45/48) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] PHENOTYPE: Homozygous null mice are born at a reduced rate and display male and female infertility and arrest of male meiosis. Mice homozygous for another knock-out allele exhibit microcephaly, infertility, decreased brain size, impaired neuroprogenitor proliferation and apoptosis, and mitosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cacna1b |
T |
C |
2: 24,542,950 (GRCm39) |
T1301A |
probably damaging |
Het |
Ccdc141 |
A |
G |
2: 76,962,641 (GRCm39) |
V101A |
probably damaging |
Het |
Ccdc146 |
T |
C |
5: 21,508,191 (GRCm39) |
E619G |
possibly damaging |
Het |
Cfap91 |
T |
C |
16: 38,162,130 (GRCm39) |
T4A |
probably benign |
Het |
Cmya5 |
T |
C |
13: 93,230,573 (GRCm39) |
E1505G |
probably benign |
Het |
Cngb3 |
C |
A |
4: 19,367,778 (GRCm39) |
P229Q |
probably damaging |
Het |
Ctnna2 |
A |
G |
6: 76,958,831 (GRCm39) |
V461A |
probably damaging |
Het |
D430041D05Rik |
T |
C |
2: 104,086,684 (GRCm39) |
D764G |
probably benign |
Het |
Dgki |
T |
C |
6: 36,951,796 (GRCm39) |
|
probably benign |
Het |
Dhx36 |
A |
T |
3: 62,395,925 (GRCm39) |
|
probably benign |
Het |
Gcn1 |
T |
C |
5: 115,732,203 (GRCm39) |
I1006T |
probably benign |
Het |
Glt8d2 |
T |
A |
10: 82,500,547 (GRCm39) |
M20L |
possibly damaging |
Het |
Greb1 |
C |
A |
12: 16,748,611 (GRCm39) |
G1122V |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,577,650 (GRCm39) |
I2037N |
probably damaging |
Het |
Hspa4l |
A |
G |
3: 40,722,434 (GRCm39) |
I340V |
possibly damaging |
Het |
Itpr3 |
A |
G |
17: 27,323,586 (GRCm39) |
K1204E |
probably damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Naga |
A |
G |
15: 82,216,715 (GRCm39) |
F259S |
probably damaging |
Het |
Nes |
A |
G |
3: 87,884,120 (GRCm39) |
E793G |
probably damaging |
Het |
Nfkb2 |
A |
G |
19: 46,296,878 (GRCm39) |
D316G |
probably damaging |
Het |
Pcdha4 |
A |
T |
18: 37,087,644 (GRCm39) |
Y609F |
possibly damaging |
Het |
Pgam1 |
C |
T |
19: 41,904,215 (GRCm39) |
A104V |
possibly damaging |
Het |
Piezo2 |
T |
C |
18: 63,247,134 (GRCm39) |
I525V |
probably damaging |
Het |
Pold1 |
A |
G |
7: 44,187,132 (GRCm39) |
V683A |
probably damaging |
Het |
Poteg |
T |
C |
8: 27,970,125 (GRCm39) |
V316A |
possibly damaging |
Het |
Ppih |
A |
T |
4: 119,168,042 (GRCm39) |
N156K |
probably damaging |
Het |
Prep |
T |
C |
10: 44,996,915 (GRCm39) |
F398L |
probably benign |
Het |
Prlhr |
A |
T |
19: 60,455,519 (GRCm39) |
M349K |
probably benign |
Het |
Rtp4 |
A |
T |
16: 23,428,827 (GRCm39) |
H30L |
probably benign |
Het |
Stkld1 |
A |
G |
2: 26,836,638 (GRCm39) |
N268S |
probably benign |
Het |
Syt6 |
A |
G |
3: 103,492,946 (GRCm39) |
E66G |
probably damaging |
Het |
Tas2r129 |
A |
G |
6: 132,928,317 (GRCm39) |
I85V |
probably benign |
Het |
Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
Tprn |
T |
C |
2: 25,158,904 (GRCm39) |
S643P |
probably damaging |
Het |
Trrap |
T |
C |
5: 144,767,858 (GRCm39) |
V2605A |
probably benign |
Het |
Vmn1r230 |
T |
A |
17: 21,066,863 (GRCm39) |
N17K |
probably benign |
Het |
Xkrx |
T |
C |
X: 133,051,745 (GRCm39) |
N302S |
possibly damaging |
Het |
Zfp946 |
T |
A |
17: 22,670,067 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Mcph1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00091:Mcph1
|
APN |
8 |
18,682,636 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL00816:Mcph1
|
APN |
8 |
18,682,413 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL01432:Mcph1
|
APN |
8 |
18,675,655 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01674:Mcph1
|
APN |
8 |
18,681,535 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01746:Mcph1
|
APN |
8 |
18,721,143 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01788:Mcph1
|
APN |
8 |
18,682,420 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01788:Mcph1
|
APN |
8 |
18,682,419 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02185:Mcph1
|
APN |
8 |
18,719,006 (GRCm39) |
splice site |
probably benign |
|
IGL02677:Mcph1
|
APN |
8 |
18,675,609 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03376:Mcph1
|
APN |
8 |
18,646,989 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4514001:Mcph1
|
UTSW |
8 |
18,681,906 (GRCm39) |
missense |
probably damaging |
0.99 |
R0116:Mcph1
|
UTSW |
8 |
18,838,264 (GRCm39) |
missense |
probably benign |
0.06 |
R0189:Mcph1
|
UTSW |
8 |
18,838,487 (GRCm39) |
missense |
probably damaging |
0.96 |
R1510:Mcph1
|
UTSW |
8 |
18,682,703 (GRCm39) |
splice site |
probably null |
|
R1547:Mcph1
|
UTSW |
8 |
18,672,702 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1574:Mcph1
|
UTSW |
8 |
18,851,428 (GRCm39) |
missense |
probably damaging |
0.99 |
R1574:Mcph1
|
UTSW |
8 |
18,851,428 (GRCm39) |
missense |
probably damaging |
0.99 |
R1733:Mcph1
|
UTSW |
8 |
18,681,979 (GRCm39) |
missense |
probably benign |
0.18 |
R1742:Mcph1
|
UTSW |
8 |
18,657,379 (GRCm39) |
missense |
probably benign |
0.03 |
R1975:Mcph1
|
UTSW |
8 |
18,739,081 (GRCm39) |
splice site |
probably benign |
|
R3836:Mcph1
|
UTSW |
8 |
18,672,675 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4405:Mcph1
|
UTSW |
8 |
18,682,557 (GRCm39) |
missense |
probably benign |
0.00 |
R4824:Mcph1
|
UTSW |
8 |
18,682,703 (GRCm39) |
splice site |
probably null |
|
R4873:Mcph1
|
UTSW |
8 |
18,675,574 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4875:Mcph1
|
UTSW |
8 |
18,675,574 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5125:Mcph1
|
UTSW |
8 |
18,657,342 (GRCm39) |
missense |
probably damaging |
0.98 |
R5178:Mcph1
|
UTSW |
8 |
18,657,342 (GRCm39) |
missense |
probably damaging |
0.98 |
R5217:Mcph1
|
UTSW |
8 |
18,838,489 (GRCm39) |
missense |
probably damaging |
0.99 |
R5233:Mcph1
|
UTSW |
8 |
18,721,254 (GRCm39) |
missense |
probably damaging |
0.96 |
R5299:Mcph1
|
UTSW |
8 |
18,702,596 (GRCm39) |
intron |
probably benign |
|
R5335:Mcph1
|
UTSW |
8 |
18,739,077 (GRCm39) |
critical splice donor site |
probably null |
|
R5579:Mcph1
|
UTSW |
8 |
18,682,309 (GRCm39) |
missense |
probably benign |
0.18 |
R5621:Mcph1
|
UTSW |
8 |
18,682,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R5655:Mcph1
|
UTSW |
8 |
18,838,326 (GRCm39) |
missense |
probably benign |
0.02 |
R5721:Mcph1
|
UTSW |
8 |
18,721,223 (GRCm39) |
missense |
probably damaging |
0.99 |
R6076:Mcph1
|
UTSW |
8 |
18,682,015 (GRCm39) |
missense |
probably benign |
0.40 |
R6592:Mcph1
|
UTSW |
8 |
18,718,983 (GRCm39) |
missense |
probably damaging |
0.97 |
R7269:Mcph1
|
UTSW |
8 |
18,657,288 (GRCm39) |
splice site |
probably null |
|
R7446:Mcph1
|
UTSW |
8 |
18,721,109 (GRCm39) |
missense |
probably benign |
0.00 |
R7455:Mcph1
|
UTSW |
8 |
18,681,775 (GRCm39) |
missense |
probably benign |
0.26 |
R7542:Mcph1
|
UTSW |
8 |
18,681,705 (GRCm39) |
missense |
probably benign |
0.03 |
R7640:Mcph1
|
UTSW |
8 |
18,682,342 (GRCm39) |
missense |
probably benign |
0.00 |
R7703:Mcph1
|
UTSW |
8 |
18,721,122 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9045:Mcph1
|
UTSW |
8 |
18,682,443 (GRCm39) |
missense |
probably benign |
0.00 |
R9287:Mcph1
|
UTSW |
8 |
18,657,293 (GRCm39) |
critical splice acceptor site |
probably null |
|
RF002:Mcph1
|
UTSW |
8 |
18,702,545 (GRCm39) |
small insertion |
probably benign |
|
RF035:Mcph1
|
UTSW |
8 |
18,702,541 (GRCm39) |
small insertion |
probably benign |
|
RF059:Mcph1
|
UTSW |
8 |
18,702,541 (GRCm39) |
small insertion |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCAGATGAATCCTTTGCCAG -3'
(R):5'- AGATGAACCCAAGTCCGCTG -3'
Sequencing Primer
(F):5'- CGGTGATTCCTGTGGAGATCAAG -3'
(R):5'- GCCCTTTTTCTCTTTGCAGAAG -3'
|
Posted On |
2015-07-21 |