Incidental Mutation 'R2121:Mdc1'
| ID |
231483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mdc1
|
| Ensembl Gene |
ENSMUSG00000061607 |
| Gene Name |
mediator of DNA damage checkpoint 1 |
| Synonyms |
NFBD1 |
| MMRRC Submission |
040125-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.944)
|
| Stock # |
R2121 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
36152407-36170562 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 36158835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 405
(A405V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082337]
[ENSMUST00000174124]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082337
AA Change: A405V
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000080949
Gene: ENSMUSG00000061607
AA Change: A405V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
18 |
N/A |
INTRINSIC |
|
FHA
|
53 |
105 |
5.63e-9 |
SMART |
|
low complexity region
|
194 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
854 |
870 |
N/A |
INTRINSIC |
|
low complexity region
|
969 |
987 |
N/A |
INTRINSIC |
|
low complexity region
|
1008 |
1022 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1027 |
1115 |
6.7e-11 |
PROSPERO |
|
internal_repeat_2
|
1030 |
1141 |
2.36e-9 |
PROSPERO |
|
internal_repeat_1
|
1266 |
1354 |
6.7e-11 |
PROSPERO |
|
internal_repeat_2
|
1298 |
1417 |
2.36e-9 |
PROSPERO |
|
low complexity region
|
1422 |
1445 |
N/A |
INTRINSIC |
|
low complexity region
|
1457 |
1477 |
N/A |
INTRINSIC |
|
BRCT
|
1502 |
1579 |
1.66e-1 |
SMART |
|
BRCT
|
1612 |
1691 |
2.45e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174124
|
| SMART Domains |
Protein: ENSMUSP00000133568
Gene: ENSMUSG00000061607
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
18 |
N/A |
INTRINSIC |
|
FHA
|
53 |
105 |
5.63e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225192
|
| Meta Mutation Damage Score |
0.0844 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (66/66) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene contains an N-terminal forkhead domain, two BRCA1 C-terminal (BRCT) motifs and a central domain with 7 divergent copies of an approximately 41-amino acid sequence. The encoded protein is required to activate the intra-S phase and G2/M phase cell cycle checkpoints in response to DNA damage. This nuclear protein interacts with phosphorylated histone H2AX near sites of DNA double-strand breaks through its BRCT motifs, and facilitates recruitment of the ATM kinase and meiotic recombination 11 protein complex to DNA damage foci. Mice with mutations in this gene exhibit growth retardation, male infertility, immune defects, chromosome instability, DNA repair defects, and radiation sensitivity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are smaller and display increased susceptibility to ionizing radiation, male infertility, T and B cell abnormalities, and increased genomic instability. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
T |
A |
17: 84,978,575 (GRCm39) |
E294D |
probably benign |
Het |
| Adnp2 |
A |
G |
18: 80,172,385 (GRCm39) |
F675L |
probably benign |
Het |
| Akna |
G |
A |
4: 63,295,137 (GRCm39) |
T1024I |
probably benign |
Het |
| Ambn |
T |
A |
5: 88,608,617 (GRCm39) |
|
probably benign |
Het |
| Aox3 |
T |
C |
1: 58,191,708 (GRCm39) |
|
probably benign |
Het |
| Arhgef10 |
A |
G |
8: 14,984,820 (GRCm39) |
D200G |
probably damaging |
Het |
| Arhgef26 |
A |
T |
3: 62,247,704 (GRCm39) |
N263Y |
probably damaging |
Het |
| Arpp21 |
A |
G |
9: 111,965,738 (GRCm39) |
S375P |
probably damaging |
Het |
| Bscl2 |
G |
T |
19: 8,817,146 (GRCm39) |
E25* |
probably null |
Het |
| Ccl12 |
T |
A |
11: 81,992,776 (GRCm39) |
S17R |
probably damaging |
Het |
| Cdh1 |
A |
G |
8: 107,390,842 (GRCm39) |
I653V |
probably benign |
Het |
| Ceacam9 |
T |
A |
7: 16,455,928 (GRCm39) |
F12I |
probably benign |
Het |
| Cfap47 |
T |
C |
X: 78,553,927 (GRCm39) |
I267V |
probably benign |
Het |
| Cldn23 |
A |
G |
8: 36,293,389 (GRCm39) |
V33A |
probably benign |
Het |
| Cog1 |
T |
C |
11: 113,540,424 (GRCm39) |
L13P |
probably damaging |
Het |
| Col20a1 |
G |
C |
2: 180,638,249 (GRCm39) |
A346P |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,738,087 (GRCm39) |
D537G |
probably damaging |
Het |
| Ctnnd2 |
G |
A |
15: 30,669,660 (GRCm39) |
R423H |
probably damaging |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,071 (GRCm39) |
*493W |
probably null |
Het |
| Dcdc2a |
T |
G |
13: 25,303,268 (GRCm39) |
S266R |
possibly damaging |
Het |
| Diaph1 |
A |
T |
18: 38,029,442 (GRCm39) |
M330K |
unknown |
Het |
| Dnah5 |
C |
T |
15: 28,297,151 (GRCm39) |
|
probably benign |
Het |
| F13a1 |
T |
A |
13: 37,209,653 (GRCm39) |
Y104F |
probably benign |
Het |
| Fam78b |
G |
A |
1: 166,906,278 (GRCm39) |
V146M |
probably damaging |
Het |
| Fancl |
G |
T |
11: 26,409,841 (GRCm39) |
|
probably benign |
Het |
| Gm10477 |
A |
G |
X: 55,570,192 (GRCm39) |
K31E |
probably damaging |
Het |
| Gstm7 |
T |
C |
3: 107,834,230 (GRCm39) |
M175V |
probably benign |
Het |
| Hcn4 |
T |
C |
9: 58,731,341 (GRCm39) |
S183P |
unknown |
Het |
| Heatr1 |
T |
C |
13: 12,418,145 (GRCm39) |
V359A |
probably benign |
Het |
| Ikbkb |
T |
C |
8: 23,157,233 (GRCm39) |
|
probably benign |
Het |
| Ints6l |
T |
A |
X: 55,550,228 (GRCm39) |
S718T |
probably benign |
Het |
| Kctd5 |
T |
C |
17: 24,274,940 (GRCm39) |
T212A |
probably benign |
Het |
| Kdm3b |
T |
C |
18: 34,929,833 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,617,154 (GRCm39) |
V1031E |
possibly damaging |
Het |
| Lyst |
A |
G |
13: 13,835,556 (GRCm39) |
Y1746C |
probably damaging |
Het |
| Mageb5 |
A |
G |
X: 90,823,701 (GRCm39) |
I226T |
probably damaging |
Het |
| Mlc1 |
A |
G |
15: 88,847,634 (GRCm39) |
Y305H |
probably benign |
Het |
| Mtcl2 |
T |
C |
2: 156,875,245 (GRCm39) |
E835G |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,580,612 (GRCm39) |
Y2474C |
unknown |
Het |
| Mybphl |
A |
C |
3: 108,282,492 (GRCm39) |
N175T |
probably damaging |
Het |
| Ncbp3 |
T |
C |
11: 72,944,304 (GRCm39) |
V102A |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,154,076 (GRCm39) |
F2345S |
probably damaging |
Het |
| Nlrp6 |
T |
C |
7: 140,506,357 (GRCm39) |
V766A |
probably benign |
Het |
| Odad4 |
T |
A |
11: 100,457,837 (GRCm39) |
|
probably null |
Het |
| Or7e173 |
T |
G |
9: 19,938,797 (GRCm39) |
I146L |
probably benign |
Het |
| Or8j3 |
T |
A |
2: 86,028,340 (GRCm39) |
Y252F |
possibly damaging |
Het |
| Palb2 |
T |
C |
7: 121,727,004 (GRCm39) |
T289A |
possibly damaging |
Het |
| Pde10a |
A |
T |
17: 9,196,047 (GRCm39) |
Q657L |
probably damaging |
Het |
| Ppp2r2a |
A |
T |
14: 67,260,577 (GRCm39) |
F234I |
probably damaging |
Het |
| Prl3c1 |
T |
A |
13: 27,383,325 (GRCm39) |
|
probably null |
Het |
| Psg20 |
T |
A |
7: 18,414,947 (GRCm39) |
Y316F |
probably benign |
Het |
| Sap18 |
T |
A |
14: 58,036,011 (GRCm39) |
S66T |
probably damaging |
Het |
| Serpina3m |
A |
G |
12: 104,355,941 (GRCm39) |
M203V |
possibly damaging |
Het |
| Slc6a21 |
A |
T |
7: 44,937,886 (GRCm39) |
I726F |
probably benign |
Het |
| Spmap2l |
A |
T |
5: 77,208,605 (GRCm39) |
I378L |
probably benign |
Het |
| Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
| Tfdp2 |
T |
C |
9: 96,177,067 (GRCm39) |
S75P |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,538,591 (GRCm39) |
E351G |
probably benign |
Het |
| Tmed11 |
G |
A |
5: 108,943,198 (GRCm39) |
|
probably benign |
Het |
| Tmem81 |
C |
A |
1: 132,435,847 (GRCm39) |
Q218K |
probably benign |
Het |
| Tnfsf11 |
G |
A |
14: 78,537,333 (GRCm39) |
T110I |
probably benign |
Het |
| Tub |
G |
A |
7: 108,625,944 (GRCm39) |
G232S |
probably damaging |
Het |
| Vmn2r121 |
A |
T |
X: 123,043,439 (GRCm39) |
|
probably null |
Het |
| Vwa5b1 |
T |
C |
4: 138,315,880 (GRCm39) |
T621A |
probably benign |
Het |
| Ythdf3 |
T |
C |
3: 16,259,356 (GRCm39) |
F501S |
possibly damaging |
Het |
|
| Other mutations in Mdc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01473:Mdc1
|
APN |
17 |
36,158,912 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01662:Mdc1
|
APN |
17 |
36,163,397 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01931:Mdc1
|
APN |
17 |
36,159,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02542:Mdc1
|
APN |
17 |
36,164,048 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02823:Mdc1
|
APN |
17 |
36,163,815 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03411:Mdc1
|
APN |
17 |
36,164,018 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02799:Mdc1
|
UTSW |
17 |
36,157,083 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
PIT4362001:Mdc1
|
UTSW |
17 |
36,155,361 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0054:Mdc1
|
UTSW |
17 |
36,159,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0129:Mdc1
|
UTSW |
17 |
36,165,337 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0131:Mdc1
|
UTSW |
17 |
36,163,473 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0131:Mdc1
|
UTSW |
17 |
36,163,473 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0132:Mdc1
|
UTSW |
17 |
36,163,473 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1406:Mdc1
|
UTSW |
17 |
36,164,424 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1406:Mdc1
|
UTSW |
17 |
36,164,424 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1597:Mdc1
|
UTSW |
17 |
36,156,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1721:Mdc1
|
UTSW |
17 |
36,158,718 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1888:Mdc1
|
UTSW |
17 |
36,165,117 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1888:Mdc1
|
UTSW |
17 |
36,165,117 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1912:Mdc1
|
UTSW |
17 |
36,161,703 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1912:Mdc1
|
UTSW |
17 |
36,155,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1977:Mdc1
|
UTSW |
17 |
36,161,822 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2122:Mdc1
|
UTSW |
17 |
36,158,835 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2357:Mdc1
|
UTSW |
17 |
36,158,337 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2842:Mdc1
|
UTSW |
17 |
36,159,686 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2851:Mdc1
|
UTSW |
17 |
36,159,902 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2852:Mdc1
|
UTSW |
17 |
36,159,902 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2964:Mdc1
|
UTSW |
17 |
36,164,529 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2996:Mdc1
|
UTSW |
17 |
36,158,785 (GRCm39) |
unclassified |
probably benign |
|
|
R3752:Mdc1
|
UTSW |
17 |
36,156,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4234:Mdc1
|
UTSW |
17 |
36,159,716 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4641:Mdc1
|
UTSW |
17 |
36,168,361 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4706:Mdc1
|
UTSW |
17 |
36,163,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4809:Mdc1
|
UTSW |
17 |
36,159,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4833:Mdc1
|
UTSW |
17 |
36,161,286 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5032:Mdc1
|
UTSW |
17 |
36,161,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5047:Mdc1
|
UTSW |
17 |
36,158,736 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5086:Mdc1
|
UTSW |
17 |
36,159,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5172:Mdc1
|
UTSW |
17 |
36,163,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5254:Mdc1
|
UTSW |
17 |
36,158,814 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5473:Mdc1
|
UTSW |
17 |
36,158,952 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5550:Mdc1
|
UTSW |
17 |
36,156,776 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5561:Mdc1
|
UTSW |
17 |
36,159,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5888:Mdc1
|
UTSW |
17 |
36,158,712 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6020:Mdc1
|
UTSW |
17 |
36,168,464 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6020:Mdc1
|
UTSW |
17 |
36,159,525 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6219:Mdc1
|
UTSW |
17 |
36,161,566 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7053:Mdc1
|
UTSW |
17 |
36,157,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7073:Mdc1
|
UTSW |
17 |
36,164,960 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7077:Mdc1
|
UTSW |
17 |
36,156,839 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7424:Mdc1
|
UTSW |
17 |
36,164,201 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7443:Mdc1
|
UTSW |
17 |
36,161,712 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7467:Mdc1
|
UTSW |
17 |
36,155,448 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7549:Mdc1
|
UTSW |
17 |
36,159,749 (GRCm39) |
missense |
probably null |
0.04 |
|
R7655:Mdc1
|
UTSW |
17 |
36,161,773 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7656:Mdc1
|
UTSW |
17 |
36,161,773 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7960:Mdc1
|
UTSW |
17 |
36,161,570 (GRCm39) |
nonsense |
probably null |
|
|
R8350:Mdc1
|
UTSW |
17 |
36,159,191 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8450:Mdc1
|
UTSW |
17 |
36,159,191 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8688:Mdc1
|
UTSW |
17 |
36,161,383 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8726:Mdc1
|
UTSW |
17 |
36,158,475 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8919:Mdc1
|
UTSW |
17 |
36,158,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8961:Mdc1
|
UTSW |
17 |
36,159,407 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9324:Mdc1
|
UTSW |
17 |
36,164,258 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9363:Mdc1
|
UTSW |
17 |
36,162,019 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9385:Mdc1
|
UTSW |
17 |
36,161,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF025:Mdc1
|
UTSW |
17 |
36,165,299 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
X0022:Mdc1
|
UTSW |
17 |
36,161,829 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATCCTGAAGCACCTGGTG -3'
(R):5'- ATCTGCATCATTGGGCCTACG -3'
Sequencing Primer
(F):5'- TGTGGCACATCTGCAGGACTG -3'
(R):5'- CTGTGTGACAGTAAGAGCCTCATC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation