Incidental Mutation 'IGL00091:Mcph1'
ID |
1411 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mcph1
|
Ensembl Gene |
ENSMUSG00000039842 |
Gene Name |
microcephaly, primary autosomal recessive 1 |
Synonyms |
5430437K10Rik, D030046N04Rik, BRIT1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00091
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
18645147-18853205 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 18682636 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 591
(N591S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131616
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039412]
[ENSMUST00000124910]
[ENSMUST00000133417]
[ENSMUST00000141244]
[ENSMUST00000146819]
|
AlphaFold |
Q7TT79 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039412
AA Change: N591S
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000037000 Gene: ENSMUSG00000039842 AA Change: N591S
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 benign
Transcript: ENSMUST00000133417
|
SMART Domains |
Protein: ENSMUSP00000121636 Gene: ENSMUSG00000039842
Domain | Start | End | E-Value | Type |
coiled coil region
|
14 |
41 |
N/A |
INTRINSIC |
Pfam:Microcephalin
|
136 |
256 |
2.4e-51 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000141244
AA Change: N10S
|
SMART Domains |
Protein: ENSMUSP00000119267 Gene: ENSMUSG00000039842 AA Change: N10S
Domain | Start | End | E-Value | Type |
Blast:BRCT
|
2 |
38 |
2e-9 |
BLAST |
low complexity region
|
39 |
51 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146819
AA Change: N591S
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000131616 Gene: ENSMUSG00000039842 AA Change: N591S
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
|
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 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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abraxas2 |
A |
T |
7: 132,485,157 (GRCm39) |
Y400F |
probably benign |
Het |
Adamts8 |
C |
A |
9: 30,864,796 (GRCm39) |
T429K |
probably damaging |
Het |
Adgrv1 |
C |
T |
13: 81,726,220 (GRCm39) |
D602N |
probably damaging |
Het |
Ano7 |
A |
T |
1: 93,329,888 (GRCm39) |
H775L |
probably benign |
Het |
Apoo-ps |
A |
T |
13: 107,551,134 (GRCm39) |
|
noncoding transcript |
Het |
Arid2 |
T |
C |
15: 96,270,183 (GRCm39) |
V1432A |
probably benign |
Het |
Atoh1 |
T |
C |
6: 64,706,568 (GRCm39) |
S88P |
possibly damaging |
Het |
C130050O18Rik |
A |
G |
5: 139,400,601 (GRCm39) |
E218G |
probably damaging |
Het |
Cacna2d1 |
T |
A |
5: 16,417,942 (GRCm39) |
F155L |
probably damaging |
Het |
Car4 |
C |
T |
11: 84,856,593 (GRCm39) |
P294S |
probably damaging |
Het |
Cyp1a2 |
G |
T |
9: 57,589,352 (GRCm39) |
S154* |
probably null |
Het |
Cyp3a25 |
A |
T |
5: 145,938,273 (GRCm39) |
Y68* |
probably null |
Het |
Dmbt1 |
C |
A |
7: 130,681,270 (GRCm39) |
|
probably benign |
Het |
Dnajc22 |
T |
A |
15: 98,999,059 (GRCm39) |
F81L |
possibly damaging |
Het |
Eml5 |
G |
A |
12: 98,839,468 (GRCm39) |
|
probably benign |
Het |
Fpgs |
A |
T |
2: 32,576,559 (GRCm39) |
|
probably benign |
Het |
Gab2 |
T |
C |
7: 96,951,650 (GRCm39) |
S537P |
possibly damaging |
Het |
Gmds |
G |
A |
13: 32,418,373 (GRCm39) |
S37L |
probably damaging |
Het |
Ipo13 |
T |
C |
4: 117,760,602 (GRCm39) |
E626G |
probably benign |
Het |
Kcng1 |
T |
C |
2: 168,110,684 (GRCm39) |
H160R |
probably benign |
Het |
Lama3 |
A |
G |
18: 12,713,349 (GRCm39) |
T1608A |
probably benign |
Het |
Lama4 |
A |
C |
10: 38,948,801 (GRCm39) |
S855R |
probably damaging |
Het |
Ltbp1 |
C |
T |
17: 75,532,333 (GRCm39) |
H454Y |
probably damaging |
Het |
Map3k14 |
C |
A |
11: 103,118,405 (GRCm39) |
G594C |
probably damaging |
Het |
Moxd1 |
G |
A |
10: 24,155,762 (GRCm39) |
V289I |
probably damaging |
Het |
Mptx2 |
T |
G |
1: 173,102,455 (GRCm39) |
N78T |
probably damaging |
Het |
Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
Muc6 |
A |
C |
7: 141,218,497 (GRCm39) |
S2059A |
probably benign |
Het |
Nup50 |
T |
A |
15: 84,819,605 (GRCm39) |
F293Y |
probably benign |
Het |
Ogn |
A |
G |
13: 49,774,514 (GRCm39) |
Y219C |
probably damaging |
Het |
Pdia3 |
T |
C |
2: 121,244,659 (GRCm39) |
L47P |
probably damaging |
Het |
Piwil4 |
A |
T |
9: 14,614,393 (GRCm39) |
D786E |
probably damaging |
Het |
Pspc1 |
A |
G |
14: 57,009,168 (GRCm39) |
L222P |
probably damaging |
Het |
Ptchd3 |
T |
A |
11: 121,721,972 (GRCm39) |
Y282N |
probably damaging |
Het |
Reln |
C |
A |
5: 22,244,563 (GRCm39) |
G805V |
possibly damaging |
Het |
Serpini2 |
T |
C |
3: 75,156,549 (GRCm39) |
Y327C |
probably damaging |
Het |
Spire2 |
A |
G |
8: 124,080,798 (GRCm39) |
D14G |
probably damaging |
Het |
Stab2 |
A |
T |
10: 86,705,070 (GRCm39) |
|
probably null |
Het |
Timeless |
T |
C |
10: 128,077,577 (GRCm39) |
L219P |
probably damaging |
Het |
Tmem63a |
C |
T |
1: 180,790,653 (GRCm39) |
T437M |
probably damaging |
Het |
Tslp |
A |
G |
18: 32,948,448 (GRCm39) |
|
probably benign |
Het |
Ttbk2 |
C |
A |
2: 120,579,314 (GRCm39) |
G534* |
probably null |
Het |
Uggt1 |
T |
C |
1: 36,218,633 (GRCm39) |
|
probably benign |
Het |
Vmn2r118 |
T |
C |
17: 55,899,708 (GRCm39) |
E732G |
probably damaging |
Het |
Zfhx2 |
G |
A |
14: 55,304,022 (GRCm39) |
P1321S |
possibly damaging |
Het |
Zfp58 |
A |
G |
13: 67,639,114 (GRCm39) |
V459A |
probably benign |
Het |
Zfp831 |
T |
C |
2: 174,487,451 (GRCm39) |
S709P |
possibly damaging |
Het |
|
Other mutations in Mcph1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R4493:Mcph1
|
UTSW |
8 |
18,681,752 (GRCm39) |
nonsense |
probably null |
|
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 |
|
|
Posted On |
2011-07-12 |