Incidental Mutation 'IGL00816:Mcph1'
| ID |
13607 |
| 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 # |
IGL00816
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
18645147-18853205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 18682413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 517
(P517S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039412]
[ENSMUST00000124910]
[ENSMUST00000133417]
[ENSMUST00000141244]
[ENSMUST00000146819]
|
| AlphaFold |
Q7TT79 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039412
AA Change: P517S
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000037000
Gene: ENSMUSG00000039842
AA Change: P517S
| 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 |
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 |
possibly damaging
Transcript: ENSMUST00000146819
AA Change: P517S
PolyPhen 2
Score 0.589 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000131616
Gene: ENSMUSG00000039842
AA Change: P517S
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,545,322 (GRCm39) |
D5654E |
probably benign |
Het |
| Alg6 |
A |
G |
4: 99,630,598 (GRCm39) |
S146G |
probably null |
Het |
| Anks1 |
T |
C |
17: 28,278,367 (GRCm39) |
|
probably null |
Het |
| Bcor |
T |
C |
X: 11,904,059 (GRCm39) |
I1662V |
probably damaging |
Het |
| Bzw1 |
T |
C |
1: 58,438,213 (GRCm39) |
F98L |
probably damaging |
Het |
| Cdc14b |
A |
G |
13: 64,353,217 (GRCm39) |
V453A |
probably benign |
Het |
| Copg1 |
G |
T |
6: 87,870,880 (GRCm39) |
A228S |
possibly damaging |
Het |
| D1Pas1 |
A |
G |
1: 186,701,609 (GRCm39) |
I513V |
possibly damaging |
Het |
| Efemp1 |
G |
A |
11: 28,876,223 (GRCm39) |
V463M |
probably benign |
Het |
| Ep400 |
T |
A |
5: 110,883,356 (GRCm39) |
|
probably benign |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Fgd3 |
A |
G |
13: 49,418,262 (GRCm39) |
|
probably benign |
Het |
| Furin |
C |
A |
7: 80,042,315 (GRCm39) |
G427W |
probably damaging |
Het |
| Glycam1 |
T |
G |
15: 103,472,659 (GRCm39) |
D25A |
probably damaging |
Het |
| Gpr119 |
A |
G |
X: 47,763,047 (GRCm39) |
L30P |
probably damaging |
Het |
| Gria1 |
T |
A |
11: 57,208,568 (GRCm39) |
M752K |
possibly damaging |
Het |
| Mug1 |
T |
A |
6: 121,859,597 (GRCm39) |
Y1199N |
probably damaging |
Het |
| Myt1 |
A |
G |
2: 181,449,308 (GRCm39) |
D663G |
probably damaging |
Het |
| Ppp1r1c |
A |
T |
2: 79,540,241 (GRCm39) |
|
probably null |
Het |
| Rab1a |
C |
T |
11: 20,174,727 (GRCm39) |
T100M |
possibly damaging |
Het |
| Rfx6 |
A |
G |
10: 51,554,501 (GRCm39) |
K114R |
probably benign |
Het |
| Rmdn1 |
T |
C |
4: 19,595,119 (GRCm39) |
V177A |
probably benign |
Het |
| Setd5 |
T |
G |
6: 113,088,375 (GRCm39) |
L168V |
probably damaging |
Het |
| Slc25a10 |
A |
T |
11: 120,385,976 (GRCm39) |
|
probably benign |
Het |
| Slc38a7 |
A |
T |
8: 96,570,748 (GRCm39) |
I252N |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Taar8c |
A |
T |
10: 23,977,173 (GRCm39) |
I213N |
probably damaging |
Het |
| Tagln3 |
A |
T |
16: 45,544,556 (GRCm39) |
C38* |
probably null |
Het |
| Tmcc2 |
C |
A |
1: 132,308,436 (GRCm39) |
A153S |
probably benign |
Het |
| Tuft1 |
A |
T |
3: 94,523,138 (GRCm39) |
I291N |
probably damaging |
Het |
| Vmn2r10 |
T |
A |
5: 109,150,451 (GRCm39) |
M198L |
possibly damaging |
Het |
| Vps13d |
T |
A |
4: 144,882,564 (GRCm39) |
M1004L |
probably benign |
Het |
| Wfdc3 |
T |
C |
2: 164,584,945 (GRCm39) |
|
probably benign |
Het |
| Wfikkn2 |
G |
A |
11: 94,128,921 (GRCm39) |
Q407* |
probably null |
Het |
| Zfp106 |
T |
C |
2: 120,357,329 (GRCm39) |
I1189V |
probably benign |
Het |
| Zic2 |
T |
A |
14: 122,715,971 (GRCm39) |
C364* |
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 |
|
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 |
2012-12-06 |
Incidental Mutation