Incidental Mutation 'IGL01674:Mcph1'
| ID |
103595 |
| 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 # |
IGL01674
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
18645147-18853205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18681535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 224
(E224G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037000
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039412]
[ENSMUST00000124910]
[ENSMUST00000133417]
[ENSMUST00000141244]
[ENSMUST00000146819]
|
| AlphaFold |
Q7TT79 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039412
AA Change: E224G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037000
Gene: ENSMUSG00000039842
AA Change: E224G
| 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 damaging
Transcript: ENSMUST00000133417
AA Change: E136G
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000121636
Gene: ENSMUSG00000039842
AA Change: E136G
| 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 damaging
Transcript: ENSMUST00000146819
AA Change: E224G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131616
Gene: ENSMUSG00000039842
AA Change: E224G
| 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 |
|---|
| Arhgef39 |
A |
G |
4: 43,497,590 (GRCm39) |
L222P |
probably damaging |
Het |
| Art3 |
T |
A |
5: 92,551,473 (GRCm39) |
Y17* |
probably null |
Het |
| Cadps2 |
A |
G |
6: 23,355,851 (GRCm39) |
L859P |
probably damaging |
Het |
| Celsr2 |
A |
G |
3: 108,322,159 (GRCm39) |
Y218H |
probably damaging |
Het |
| Ces5a |
A |
G |
8: 94,228,847 (GRCm39) |
V461A |
probably damaging |
Het |
| Clic4 |
C |
A |
4: 134,966,204 (GRCm39) |
V51L |
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,730,236 (GRCm39) |
L1083P |
probably damaging |
Het |
| Cul5 |
T |
C |
9: 53,546,307 (GRCm39) |
E328G |
probably damaging |
Het |
| Erap1 |
T |
C |
13: 74,812,350 (GRCm39) |
|
probably benign |
Het |
| Fn1 |
G |
A |
1: 71,645,900 (GRCm39) |
P1527L |
probably damaging |
Het |
| Gm20547 |
T |
A |
17: 35,100,631 (GRCm39) |
Q63L |
probably benign |
Het |
| Gm5089 |
T |
C |
14: 122,673,575 (GRCm39) |
T49A |
unknown |
Het |
| Ippk |
T |
C |
13: 49,602,740 (GRCm39) |
L362S |
probably damaging |
Het |
| Krt23 |
T |
C |
11: 99,377,593 (GRCm39) |
M138V |
probably benign |
Het |
| Magi3 |
A |
G |
3: 104,013,037 (GRCm39) |
|
probably benign |
Het |
| Mcc |
T |
A |
18: 44,624,223 (GRCm39) |
I266F |
probably benign |
Het |
| Neurod4 |
A |
T |
10: 130,106,887 (GRCm39) |
L129H |
probably damaging |
Het |
| Or14j5 |
T |
A |
17: 37,920,853 (GRCm39) |
D263V |
probably damaging |
Het |
| Or4c123 |
T |
A |
2: 89,127,014 (GRCm39) |
N200I |
probably damaging |
Het |
| Or5b24 |
T |
C |
19: 12,912,926 (GRCm39) |
S275P |
probably damaging |
Het |
| Or8h7 |
T |
C |
2: 86,721,093 (GRCm39) |
Y142C |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,160,630 (GRCm39) |
I2342N |
probably damaging |
Het |
| Pnpt1 |
A |
G |
11: 29,105,787 (GRCm39) |
Q632R |
probably benign |
Het |
| Ppp2r2c |
T |
C |
5: 37,097,570 (GRCm39) |
M252T |
possibly damaging |
Het |
| Ppp4r2 |
A |
G |
6: 100,841,644 (GRCm39) |
N142D |
possibly damaging |
Het |
| Prex2 |
G |
T |
1: 11,240,965 (GRCm39) |
K1024N |
probably damaging |
Het |
| Rimklb |
T |
A |
6: 122,436,129 (GRCm39) |
I150F |
probably damaging |
Het |
| Slco4c1 |
T |
C |
1: 96,770,218 (GRCm39) |
Q282R |
probably damaging |
Het |
| Tmem92 |
T |
C |
11: 94,669,519 (GRCm39) |
E148G |
probably damaging |
Het |
| Traf7 |
T |
C |
17: 24,729,349 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
G |
A |
15: 37,998,623 (GRCm39) |
T1622M |
probably damaging |
Het |
| Vmn1r5 |
T |
A |
6: 56,962,911 (GRCm39) |
S195R |
probably damaging |
Het |
| Vmn2r67 |
C |
T |
7: 84,785,651 (GRCm39) |
V785I |
probably damaging |
Het |
| Ythdc2 |
G |
A |
18: 44,993,471 (GRCm39) |
D839N |
probably benign |
Het |
| Zfp184 |
T |
C |
13: 22,134,395 (GRCm39) |
|
probably benign |
Het |
| Zfp654 |
T |
C |
16: 64,605,004 (GRCm39) |
N525S |
probably benign |
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 |
|
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 |
2014-01-21 |
Incidental Mutation