Incidental Mutation 'IGL01746:Mcph1'
| ID |
153017 |
| 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 # |
IGL01746
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
18645147-18853205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18721143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 657
(L657P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037000
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039412]
[ENSMUST00000124910]
|
| AlphaFold |
Q7TT79 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039412
AA Change: L657P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037000
Gene: ENSMUSG00000039842
AA Change: L657P
| 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 |
noncoding transcript
Transcript: ENSMUST00000138744
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,982,276 (GRCm39) |
M1187V |
possibly damaging |
Het |
| Ctsm |
T |
C |
13: 61,687,630 (GRCm39) |
E76G |
probably benign |
Het |
| Ctsm |
T |
C |
13: 61,686,717 (GRCm39) |
|
probably benign |
Het |
| Egfl8 |
T |
C |
17: 34,833,890 (GRCm39) |
T63A |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,045,880 (GRCm39) |
C3966* |
probably null |
Het |
| Fsd2 |
T |
C |
7: 81,202,755 (GRCm39) |
T275A |
probably benign |
Het |
| Fyb2 |
A |
T |
4: 104,802,404 (GRCm39) |
H102L |
probably benign |
Het |
| Galnt9 |
T |
C |
5: 110,736,188 (GRCm39) |
I168T |
probably damaging |
Het |
| Hc |
A |
G |
2: 34,947,338 (GRCm39) |
Y59H |
probably damaging |
Het |
| Khnyn |
T |
C |
14: 56,124,439 (GRCm39) |
V231A |
probably benign |
Het |
| Larp4b |
T |
A |
13: 9,208,160 (GRCm39) |
V378E |
probably damaging |
Het |
| Lbx1 |
A |
T |
19: 45,222,214 (GRCm39) |
S270T |
possibly damaging |
Het |
| Mcm6 |
G |
A |
1: 128,281,261 (GRCm39) |
R101* |
probably null |
Het |
| Ndst2 |
G |
T |
14: 20,779,482 (GRCm39) |
P253T |
probably benign |
Het |
| Nek4 |
G |
A |
14: 30,699,541 (GRCm39) |
|
probably null |
Het |
| Nsd1 |
T |
A |
13: 55,424,328 (GRCm39) |
|
probably null |
Het |
| Oc90 |
A |
G |
15: 65,761,250 (GRCm39) |
|
probably benign |
Het |
| Plcl2 |
T |
A |
17: 50,914,724 (GRCm39) |
S578T |
probably benign |
Het |
| Ranbp3l |
T |
A |
15: 9,063,167 (GRCm39) |
C325* |
probably null |
Het |
| Rps19bp1 |
T |
C |
15: 80,145,198 (GRCm39) |
Y140C |
probably damaging |
Het |
| Sec62 |
T |
A |
3: 30,868,395 (GRCm39) |
I208K |
probably benign |
Het |
| Slc25a48 |
T |
A |
13: 56,618,166 (GRCm39) |
F268I |
probably damaging |
Het |
| Slc35e3 |
T |
C |
10: 117,580,807 (GRCm39) |
T166A |
possibly damaging |
Het |
| Tmem253 |
G |
A |
14: 52,254,614 (GRCm39) |
W23* |
probably null |
Het |
| Tmem97 |
T |
C |
11: 78,433,586 (GRCm39) |
Y103C |
probably damaging |
Het |
| Traf6 |
A |
G |
2: 101,527,237 (GRCm39) |
E329G |
possibly damaging |
Het |
| Ttll12 |
A |
G |
15: 83,462,877 (GRCm39) |
F530L |
probably damaging |
Het |
| Ugt3a1 |
C |
T |
15: 9,361,754 (GRCm39) |
P177S |
probably damaging |
Het |
| Veph1 |
T |
C |
3: 66,065,508 (GRCm39) |
T520A |
probably benign |
Het |
| Vmn2r98 |
T |
A |
17: 19,286,713 (GRCm39) |
Y404N |
probably damaging |
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 |
|
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 |
2014-02-04 |
Incidental Mutation