Incidental Mutation 'R7542:Mcph1'
| ID |
583950 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcph1
|
| Ensembl Gene |
ENSMUSG00000039842 |
| Gene Name |
microcephaly, primary autosomal recessive 1 |
| Synonyms |
5430437K10Rik, D030046N04Rik, BRIT1 |
| MMRRC Submission |
045614-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7542 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
18645147-18853205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 18681705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 281
(R281C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037000
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039412]
[ENSMUST00000124910]
[ENSMUST00000133417]
[ENSMUST00000141244]
[ENSMUST00000146819]
|
| AlphaFold |
Q7TT79 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039412
AA Change: R281C
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000037000
Gene: ENSMUSG00000039842
AA Change: R281C
| 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 |
possibly damaging
Transcript: ENSMUST00000133417
AA Change: R193C
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121636
Gene: ENSMUSG00000039842
AA Change: R193C
| 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 benign
Transcript: ENSMUST00000146819
AA Change: R281C
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000131616
Gene: ENSMUSG00000039842
AA Change: R281C
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
A |
T |
8: 41,133,848 (GRCm39) |
T439S |
possibly damaging |
Het |
| Akap11 |
A |
T |
14: 78,747,732 (GRCm39) |
S1552T |
|
Het |
| Akap6 |
A |
G |
12: 53,116,017 (GRCm39) |
E1040G |
probably damaging |
Het |
| Alms1 |
A |
T |
6: 85,606,344 (GRCm39) |
T2196S |
possibly damaging |
Het |
| Alox12e |
T |
C |
11: 70,212,582 (GRCm39) |
Q89R |
possibly damaging |
Het |
| AW551984 |
T |
A |
9: 39,505,927 (GRCm39) |
E423D |
possibly damaging |
Het |
| Ccpg1 |
T |
A |
9: 72,919,741 (GRCm39) |
V452D |
probably damaging |
Het |
| Cdk5r1 |
T |
C |
11: 80,369,190 (GRCm39) |
F286L |
probably damaging |
Het |
| Cgref1 |
A |
T |
5: 31,090,937 (GRCm39) |
N292K |
probably damaging |
Het |
| Clgn |
A |
T |
8: 84,122,174 (GRCm39) |
S32C |
possibly damaging |
Het |
| Csk |
C |
A |
9: 57,536,283 (GRCm39) |
|
probably null |
Het |
| Dchs2 |
A |
G |
3: 83,176,591 (GRCm39) |
T850A |
probably benign |
Het |
| Defb2 |
T |
C |
8: 22,333,360 (GRCm39) |
V45A |
probably benign |
Het |
| Disp2 |
A |
G |
2: 118,621,599 (GRCm39) |
Q777R |
probably damaging |
Het |
| Dll1 |
C |
T |
17: 15,590,609 (GRCm39) |
C369Y |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,823,658 (GRCm39) |
I3766V |
probably benign |
Het |
| Elapor1 |
A |
T |
3: 108,365,543 (GRCm39) |
|
probably benign |
Het |
| Fam53a |
A |
G |
5: 33,764,815 (GRCm39) |
M297T |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,035,504 (GRCm39) |
D3052G |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 39,035,770 (GRCm39) |
I3141F |
possibly damaging |
Het |
| Fbxw10 |
T |
C |
11: 62,741,422 (GRCm39) |
V180A |
probably benign |
Het |
| Frem2 |
A |
T |
3: 53,560,000 (GRCm39) |
D1502E |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,815,196 (GRCm39) |
N3643I |
possibly damaging |
Het |
| Furin |
A |
G |
7: 80,043,207 (GRCm39) |
S335P |
probably damaging |
Het |
| Glb1l3 |
C |
A |
9: 26,729,491 (GRCm39) |
A659S |
possibly damaging |
Het |
| Gm8011 |
A |
T |
14: 42,288,741 (GRCm39) |
R175* |
probably null |
Het |
| Gna15 |
A |
G |
10: 81,350,136 (GRCm39) |
S89P |
probably damaging |
Het |
| Grm2 |
A |
T |
9: 106,528,368 (GRCm39) |
L172Q |
probably damaging |
Het |
| Iqcn |
A |
G |
8: 71,161,415 (GRCm39) |
T203A |
possibly damaging |
Het |
| Kcnc3 |
A |
G |
7: 44,245,138 (GRCm39) |
D476G |
possibly damaging |
Het |
| Kcnh6 |
A |
G |
11: 105,905,387 (GRCm39) |
T216A |
possibly damaging |
Het |
| Kdm2a |
G |
A |
19: 4,383,858 (GRCm39) |
|
probably benign |
Het |
| Lrrc9 |
T |
C |
12: 72,553,094 (GRCm39) |
I1332T |
probably damaging |
Het |
| Maea |
T |
C |
5: 33,529,007 (GRCm39) |
C317R |
probably damaging |
Het |
| Manba |
T |
C |
3: 135,272,354 (GRCm39) |
V707A |
probably benign |
Het |
| Med25 |
A |
T |
7: 44,541,215 (GRCm39) |
D99E |
probably damaging |
Het |
| Megf10 |
C |
A |
18: 57,322,642 (GRCm39) |
D62E |
probably benign |
Het |
| Minar1 |
T |
A |
9: 89,483,964 (GRCm39) |
T478S |
probably damaging |
Het |
| Myod1 |
A |
T |
7: 46,026,097 (GRCm39) |
M1L |
probably benign |
Het |
| Nav3 |
A |
T |
10: 109,659,394 (GRCm39) |
M741K |
possibly damaging |
Het |
| Odf2l |
A |
C |
3: 144,859,197 (GRCm39) |
K618T |
probably damaging |
Het |
| Or4c107 |
A |
T |
2: 88,789,119 (GRCm39) |
E103V |
probably benign |
Het |
| Pcdha2 |
G |
A |
18: 37,073,142 (GRCm39) |
G258R |
probably damaging |
Het |
| Pcdha3 |
G |
A |
18: 37,080,784 (GRCm39) |
A509T |
possibly damaging |
Het |
| Pde4dip |
A |
G |
3: 97,673,971 (GRCm39) |
V315A |
possibly damaging |
Het |
| Prim1 |
T |
C |
10: 127,853,903 (GRCm39) |
V107A |
probably damaging |
Het |
| Pxdc1 |
A |
G |
13: 34,822,146 (GRCm39) |
|
probably null |
Het |
| Rab7b |
C |
T |
1: 131,639,379 (GRCm39) |
H182Y |
probably benign |
Het |
| Reln |
C |
A |
5: 22,160,179 (GRCm39) |
G2130V |
probably damaging |
Het |
| Retreg1 |
T |
A |
15: 25,941,296 (GRCm39) |
M1K |
probably null |
Het |
| Rras |
G |
A |
7: 44,669,766 (GRCm39) |
R94Q |
probably damaging |
Het |
| Rundc3a |
T |
A |
11: 102,290,871 (GRCm39) |
L318Q |
probably benign |
Het |
| Scgb2b18 |
A |
T |
7: 32,872,747 (GRCm39) |
|
probably null |
Het |
| Setd1b |
A |
T |
5: 123,286,510 (GRCm39) |
M519L |
unknown |
Het |
| Tep1 |
G |
A |
14: 51,099,948 (GRCm39) |
Q426* |
probably null |
Het |
| Tesk1 |
G |
T |
4: 43,445,941 (GRCm39) |
M291I |
probably benign |
Het |
| Tgs1 |
A |
G |
4: 3,595,439 (GRCm39) |
D536G |
probably benign |
Het |
| Thbs1 |
C |
T |
2: 117,951,655 (GRCm39) |
T825M |
probably damaging |
Het |
| Tmem59l |
T |
C |
8: 70,937,814 (GRCm39) |
N189D |
possibly damaging |
Het |
| Trim30c |
A |
T |
7: 104,031,425 (GRCm39) |
D463E |
possibly damaging |
Het |
| Trpc4 |
A |
G |
3: 54,223,075 (GRCm39) |
Y706C |
probably damaging |
Het |
| Ttc13 |
A |
T |
8: 125,401,842 (GRCm39) |
|
probably null |
Het |
| Tulp1 |
T |
C |
17: 28,582,729 (GRCm39) |
K140E |
probably benign |
Het |
| Urb2 |
A |
G |
8: 124,755,327 (GRCm39) |
I345V |
probably benign |
Het |
| Vmn2r43 |
T |
C |
7: 8,258,488 (GRCm39) |
M242V |
probably benign |
Het |
| Zcwpw1 |
T |
C |
5: 137,817,785 (GRCm39) |
V509A |
probably benign |
Het |
| Zfp202 |
T |
C |
9: 40,122,443 (GRCm39) |
C402R |
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 |
|
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 |
|
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'- AAGGCGATTCTTTGTTGATCTC -3'
(R):5'- GCAGAAGAATTCTTGGGTCCC -3'
Sequencing Primer
(F):5'- CTGCAGATGAATCCTTTGCCAGTG -3'
(R):5'- GAAGAATTCTTGGGTCCCAACCG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation