Incidental Mutation 'R1742:Mcph1'
ID |
200427 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mcph1
|
Ensembl Gene |
ENSMUSG00000039842 |
Gene Name |
microcephaly, primary autosomal recessive 1 |
Synonyms |
5430437K10Rik, D030046N04Rik, BRIT1 |
MMRRC Submission |
039774-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1742 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
18645147-18853205 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 18657379 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 73
(G73R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131698
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039412]
[ENSMUST00000124910]
[ENSMUST00000146819]
|
AlphaFold |
Q7TT79 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039412
AA Change: G73R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000037000 Gene: ENSMUSG00000039842 AA Change: G73R
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
AA Change: G73R
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000131698 Gene: ENSMUSG00000039842 AA Change: G73R
Domain | Start | End | E-Value | Type |
BRCT
|
13 |
89 |
2.64e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146819
AA Change: G73R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000131616 Gene: ENSMUSG00000039842 AA Change: G73R
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 |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.7%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankhd1 |
C |
A |
18: 36,758,318 (GRCm39) |
A1004E |
probably damaging |
Het |
Arfgef2 |
A |
G |
2: 166,708,900 (GRCm39) |
S1071G |
probably damaging |
Het |
Arhgef5 |
T |
A |
6: 43,257,133 (GRCm39) |
I1228N |
probably damaging |
Het |
Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
Bptf |
A |
G |
11: 107,001,777 (GRCm39) |
V445A |
probably damaging |
Het |
Btf3 |
C |
T |
13: 98,452,804 (GRCm39) |
M1I |
probably null |
Het |
Bves |
C |
T |
10: 45,223,961 (GRCm39) |
T207M |
probably damaging |
Het |
Ccdc171 |
T |
A |
4: 83,599,521 (GRCm39) |
S779T |
probably damaging |
Het |
Ccdc54 |
T |
C |
16: 50,410,601 (GRCm39) |
K222E |
possibly damaging |
Het |
Cebpe |
A |
G |
14: 54,949,057 (GRCm39) |
V120A |
probably benign |
Het |
Clhc1 |
T |
A |
11: 29,507,647 (GRCm39) |
|
probably null |
Het |
Col22a1 |
C |
T |
15: 71,673,762 (GRCm39) |
G985S |
unknown |
Het |
Col6a3 |
T |
A |
1: 90,741,516 (GRCm39) |
I639F |
probably damaging |
Het |
Cryga |
C |
A |
1: 65,142,280 (GRCm39) |
V38L |
probably benign |
Het |
Dll3 |
T |
C |
7: 27,993,848 (GRCm39) |
T530A |
probably benign |
Het |
Dnaaf9 |
A |
T |
2: 130,582,315 (GRCm39) |
|
probably null |
Het |
Dnah7a |
G |
A |
1: 53,495,843 (GRCm39) |
P3205S |
probably benign |
Het |
Dpp10 |
T |
A |
1: 123,372,935 (GRCm39) |
Y224F |
probably damaging |
Het |
Eif1ad10 |
C |
T |
12: 88,216,453 (GRCm39) |
D140N |
unknown |
Het |
Fcrl2 |
T |
C |
3: 87,166,350 (GRCm39) |
T142A |
possibly damaging |
Het |
Fyttd1 |
C |
T |
16: 32,725,923 (GRCm39) |
R175* |
probably null |
Het |
Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
Gpr33 |
T |
C |
12: 52,071,045 (GRCm39) |
|
probably null |
Het |
Gse1 |
T |
A |
8: 121,293,689 (GRCm39) |
V205E |
probably damaging |
Het |
Herc4 |
C |
A |
10: 63,123,728 (GRCm39) |
N461K |
probably benign |
Het |
Ifi206 |
G |
A |
1: 173,309,537 (GRCm39) |
T153I |
probably benign |
Het |
Iqca1 |
T |
C |
1: 90,025,773 (GRCm39) |
I341V |
probably benign |
Het |
Itsn1 |
T |
G |
16: 91,613,847 (GRCm39) |
|
probably null |
Het |
Kcnk5 |
T |
A |
14: 20,191,925 (GRCm39) |
Y412F |
probably benign |
Het |
Lemd1 |
T |
A |
1: 132,156,036 (GRCm39) |
I26K |
probably damaging |
Het |
Lipc |
A |
T |
9: 70,727,811 (GRCm39) |
L12Q |
probably damaging |
Het |
Lrrtm1 |
C |
A |
6: 77,221,074 (GRCm39) |
P177Q |
probably damaging |
Het |
Msantd5f6 |
T |
C |
4: 73,319,447 (GRCm39) |
D99G |
probably damaging |
Het |
Myh11 |
A |
T |
16: 14,037,908 (GRCm39) |
L899Q |
probably damaging |
Het |
Myo18a |
G |
T |
11: 77,732,293 (GRCm39) |
R822L |
probably damaging |
Het |
Nav3 |
T |
C |
10: 109,605,074 (GRCm39) |
T1000A |
probably benign |
Het |
Nox4 |
T |
C |
7: 86,945,026 (GRCm39) |
V94A |
possibly damaging |
Het |
Or10ag53 |
T |
A |
2: 87,083,122 (GRCm39) |
N280K |
probably benign |
Het |
Or4c123 |
G |
T |
2: 89,126,768 (GRCm39) |
P282H |
probably damaging |
Het |
Or7g32 |
A |
G |
9: 19,389,337 (GRCm39) |
S67P |
probably damaging |
Het |
Oxr1 |
T |
C |
15: 41,713,955 (GRCm39) |
L679P |
probably damaging |
Het |
Pcdhb17 |
T |
C |
18: 37,619,629 (GRCm39) |
I473T |
probably damaging |
Het |
Pgbd5 |
T |
A |
8: 125,107,046 (GRCm39) |
E165D |
probably damaging |
Het |
Pgpep1l |
A |
T |
7: 67,886,802 (GRCm39) |
V169D |
probably damaging |
Het |
Phf12 |
C |
T |
11: 77,900,312 (GRCm39) |
T136I |
probably benign |
Het |
Pif1 |
T |
A |
9: 65,495,132 (GRCm39) |
M14K |
probably benign |
Het |
Pigr |
A |
G |
1: 130,772,823 (GRCm39) |
E347G |
probably damaging |
Het |
Plekha3 |
G |
A |
2: 76,513,223 (GRCm39) |
E103K |
possibly damaging |
Het |
Ptgs2 |
A |
G |
1: 149,980,150 (GRCm39) |
I363V |
probably damaging |
Het |
Rasl11a |
T |
A |
5: 146,783,805 (GRCm39) |
|
probably null |
Het |
Recql |
T |
C |
6: 142,310,298 (GRCm39) |
T511A |
probably damaging |
Het |
Rgl2 |
T |
A |
17: 34,156,197 (GRCm39) |
|
probably null |
Het |
Rpp25l |
T |
C |
4: 41,712,763 (GRCm39) |
Y4C |
probably damaging |
Het |
Sass6 |
T |
G |
3: 116,401,126 (GRCm39) |
C156G |
probably damaging |
Het |
Sgta |
T |
G |
10: 80,882,111 (GRCm39) |
N288T |
probably damaging |
Het |
Slco1a4 |
T |
A |
6: 141,770,771 (GRCm39) |
T282S |
probably benign |
Het |
Smad4 |
T |
C |
18: 73,808,968 (GRCm39) |
R100G |
probably damaging |
Het |
Sox8 |
C |
T |
17: 25,786,915 (GRCm39) |
V263M |
probably damaging |
Het |
Sp8 |
A |
G |
12: 118,813,552 (GRCm39) |
H469R |
probably benign |
Het |
Spata1 |
A |
T |
3: 146,175,378 (GRCm39) |
|
probably null |
Het |
Taar7a |
G |
A |
10: 23,869,117 (GRCm39) |
S88F |
probably damaging |
Het |
Tnks2 |
T |
C |
19: 36,853,661 (GRCm39) |
L749S |
probably damaging |
Het |
Tollip |
C |
A |
7: 141,446,592 (GRCm39) |
R19L |
probably damaging |
Het |
Tox2 |
G |
A |
2: 163,067,446 (GRCm39) |
R55H |
probably benign |
Het |
Vmn2r27 |
T |
C |
6: 124,177,636 (GRCm39) |
E456G |
possibly damaging |
Het |
Vmn2r77 |
T |
A |
7: 86,444,543 (GRCm39) |
N65K |
probably benign |
Het |
Vwf |
T |
C |
6: 125,644,513 (GRCm39) |
M2456T |
probably benign |
Het |
Zfp526 |
A |
G |
7: 24,923,939 (GRCm39) |
N66S |
possibly damaging |
Het |
Zic1 |
T |
C |
9: 91,243,629 (GRCm39) |
Y446C |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCATCTTTCCACGTTCACCACAG -3'
(R):5'- GTCAAGAGAGCATAGGCACGTTCAG -3'
Sequencing Primer
(F):5'- CTGGTGTATTCCAAGAAGTGAAATTC -3'
(R):5'- CACGTTCAGGCCAATGATGTATG -3'
|
Posted On |
2014-05-23 |