Mutagenetix > Incidental Mutation

Incidental Mutation 'R7549:Mdc1'

584427

Institutional Source

Beutler Lab

Gene Symbol

Mdc1

Ensembl Gene

ENSMUSG00000061607

Gene Name

mediator of DNA damage checkpoint 1

Synonyms

NFBD1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R7549 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35841515-35859670 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35848857 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 669 (A669T)

Ref Sequence

ENSEMBL: ENSMUSP00000080949 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082337] [ENSMUST00000174124]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000082337
AA Change: A669T

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000080949
Gene: ENSMUSG00000061607
AA Change: A669T

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 null
Transcript: ENSMUST00000225192
AA Change: A77T

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	G	T	13: 31,558,995	R92S	unknown	Het
Adam1b	A	G	5: 121,501,918	C355R	probably damaging	Het
Adamtsl3	T	C	7: 82,573,909	L966P	probably damaging	Het
Aldh18a1	A	G	19: 40,564,847	C486R	probably damaging	Het
Aqp11	C	A	7: 97,738,077		probably benign	Het
Arhgap28	A	G	17: 67,871,966	L350P	probably damaging	Het
Art3	A	G	5: 92,403,655	Q291R	probably benign	Het
Asb15	A	G	6: 24,559,030		probably null	Het
Bmp8b	T	C	4: 123,105,655	I102T	possibly damaging	Het
Bsn	T	C	9: 108,114,815	D1246G	probably benign	Het
Cass4	G	A	2: 172,426,798	G267S	probably benign	Het
Cass4	G	T	2: 172,426,799	G267V	probably benign	Het
Ccr7	T	C	11: 99,145,901	Y65C	probably damaging	Het
Clstn2	A	C	9: 97,582,544	I186S	probably benign	Het
Cyp2r1	A	G	7: 114,554,644	I105T	possibly damaging	Het
Efr3a	T	A	15: 65,815,413		probably null	Het
Erg	A	C	16: 95,369,320		probably null	Het
Eya4	A	T	10: 23,111,658	V524E	probably damaging	Het
Farp1	C	A	14: 121,235,177	N241K	possibly damaging	Het
Fat1	A	T	8: 44,988,994	Y1111F	probably benign	Het
Fbn1	T	C	2: 125,344,027	E1607G	probably damaging	Het
Fbn2	A	T	18: 58,020,464	C2575*	probably null	Het
Fsip2	A	T	2: 82,993,993	D6690V	probably damaging	Het
Fzd4	T	C	7: 89,407,138	V131A	possibly damaging	Het
Gfral	T	A	9: 76,198,975	N110I	probably benign	Het
Glce	T	C	9: 62,060,993	D292G	probably damaging	Het
Gm19410	T	A	8: 35,799,346	I1051K	probably benign	Het
Gm5773	A	T	3: 93,773,016		probably benign	Het
Hcn3	A	T	3: 89,150,000	H430Q	probably null	Het
Hspa8	T	A	9: 40,802,959		probably null	Het
Ifna7	A	T	4: 88,816,427	D67V	possibly damaging	Het
Kif5c	T	A	2: 49,701,093	M319K	probably benign	Het
Klk7	G	T	7: 43,812,773		probably null	Het
Kmt2c	T	C	5: 25,414,970	K102E	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lrp1b	C	T	2: 40,875,122	M2897I		Het
Lysmd2	T	C	9: 75,637,237	S211P	probably damaging	Het
Magi1	T	G	6: 93,708,114	E761A	probably benign	Het
Mbd5	T	A	2: 49,251,343	I106N	probably damaging	Het
Mmp1b	A	G	9: 7,384,753	I265T	probably benign	Het
Mmp2	T	A	8: 92,836,966	L356Q	probably null	Het
Mroh8	A	G	2: 157,269,572	L154P	probably benign	Het
Muc13	T	C	16: 33,799,436	S185P	unknown	Het
Nuak1	T	A	10: 84,374,539	I562F	probably benign	Het
Obscn	C	A	11: 59,042,838		probably null	Het
Olfr1137	A	T	2: 87,711,771	M45K	probably damaging	Het
Olfr574	T	C	7: 102,948,591	I42T	possibly damaging	Het
Olfr827	T	C	10: 130,210,984	M49V	probably benign	Het
Pex3	T	C	10: 13,542,670	M81V	probably benign	Het
Pex5l	T	A	3: 33,082,035	I12F	probably benign	Het
Phf3	G	T	1: 30,831,475	T164N	probably benign	Het
Phpt1	G	T	2: 25,574,832	A3E	probably benign	Het
Pja2	A	T	17: 64,309,415	L162M	probably damaging	Het
Pkdrej	T	A	15: 85,819,793	K647N	probably damaging	Het
Ppp2r1a	T	C	17: 20,962,682	S543P	possibly damaging	Het
Prdm13	C	A	4: 21,679,072	D473Y	probably damaging	Het
Prl6a1	A	T	13: 27,318,971	E183D	probably damaging	Het
Psmd3	C	T	11: 98,690,961	T304M	probably benign	Het
Ptpn5	C	T	7: 47,086,126		probably null	Het
Rassf6	T	G	5: 90,606,802	I206L	probably damaging	Het
Rif1	A	G	2: 52,078,507	H234R	possibly damaging	Het
Rint1	T	C	5: 23,815,704	V575A	probably benign	Het
Ros1	G	A	10: 52,145,834	T639I	probably damaging	Het
Ryr2	A	G	13: 11,737,985	F1817L	probably benign	Het
Ska1	T	C	18: 74,200,017	D110G	probably benign	Het
Slc25a41	G	A	17: 57,033,791	T227I	probably damaging	Het
Slc6a15	T	C	10: 103,389,137	S29P	probably benign	Het
Slc8a3	A	T	12: 81,314,770	I425K	probably benign	Het
Sox8	T	A	17: 25,567,961	Q256L	probably damaging	Het
Tarsl2	T	C	7: 65,647,593	V152A	probably damaging	Het
Tbx10	A	T	19: 3,996,651	T44S	probably benign	Het
Terb1	T	A	8: 104,498,084	I52F	possibly damaging	Het
Tes	AGCCGGCC	AGCC	6: 17,099,741		probably null	Het
Tgm1	A	G	14: 55,705,903	V527A	probably benign	Het
Tmed10	G	T	12: 85,344,262	Y167*	probably null	Het
Tmem165	T	G	5: 76,208,568	S318R	possibly damaging	Het
Trim9	G	T	12: 70,346,941	S76R	probably damaging	Het
Tti1	A	G	2: 158,007,168	V717A	probably damaging	Het
Vmn2r86	T	A	10: 130,446,828	I640F	probably damaging	Het
Vwf	A	G	6: 125,626,267	N860S		Het
Xirp2	A	G	2: 67,508,897	K494R	possibly damaging	Het
Zkscan4	G	A	13: 21,484,249	S319N	probably damaging	Het

Other mutations in Mdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01473:Mdc1	APN	17	35848020	missense	probably benign	0.04
IGL01662:Mdc1	APN	17	35852505	missense	probably benign	0.00
IGL01931:Mdc1	APN	17	35848231	missense	probably benign	0.00
IGL02542:Mdc1	APN	17	35853156	missense	probably damaging	0.96
IGL02823:Mdc1	APN	17	35852923	missense	probably damaging	0.99
IGL03411:Mdc1	APN	17	35853126	missense	probably benign	0.06
IGL02799:Mdc1	UTSW	17	35846191	missense	possibly damaging	0.86
PIT4362001:Mdc1	UTSW	17	35844469	missense	possibly damaging	0.72
R0054:Mdc1	UTSW	17	35849033	missense	probably benign	0.00
R0129:Mdc1	UTSW	17	35854445	missense	probably benign	0.04
R0131:Mdc1	UTSW	17	35852581	missense	probably damaging	0.99
R0131:Mdc1	UTSW	17	35852581	missense	probably damaging	0.99
R0132:Mdc1	UTSW	17	35852581	missense	probably damaging	0.99
R1406:Mdc1	UTSW	17	35853532	missense	probably benign	0.10
R1406:Mdc1	UTSW	17	35853532	missense	probably benign	0.10
R1597:Mdc1	UTSW	17	35845866	missense	probably damaging	1.00
R1721:Mdc1	UTSW	17	35847826	missense	possibly damaging	0.85
R1888:Mdc1	UTSW	17	35854225	missense	probably benign	0.03
R1888:Mdc1	UTSW	17	35854225	missense	probably benign	0.03
R1912:Mdc1	UTSW	17	35844538	missense	probably benign	0.00
R1912:Mdc1	UTSW	17	35850811	missense	probably benign	0.19
R1977:Mdc1	UTSW	17	35850930	missense	probably benign	0.01
R2121:Mdc1	UTSW	17	35847943	missense	probably benign	0.03
R2122:Mdc1	UTSW	17	35847943	missense	probably benign	0.03
R2357:Mdc1	UTSW	17	35847445	missense	probably benign	0.00
R2842:Mdc1	UTSW	17	35848794	missense	probably benign	0.01
R2851:Mdc1	UTSW	17	35849010	missense	probably benign	0.04
R2852:Mdc1	UTSW	17	35849010	missense	probably benign	0.04
R2964:Mdc1	UTSW	17	35853637	missense	possibly damaging	0.72
R2996:Mdc1	UTSW	17	35847893	unclassified	probably benign
R3752:Mdc1	UTSW	17	35845929	missense	probably damaging	1.00
R4234:Mdc1	UTSW	17	35848824	missense	probably benign	0.00
R4641:Mdc1	UTSW	17	35857469	missense	probably benign	0.09
R4706:Mdc1	UTSW	17	35852779	missense	probably damaging	0.99
R4809:Mdc1	UTSW	17	35849101	critical splice donor site	probably null
R4833:Mdc1	UTSW	17	35850394	missense	probably benign	0.20
R5032:Mdc1	UTSW	17	35850589	missense	probably benign	0.00
R5047:Mdc1	UTSW	17	35847844	missense	probably benign	0.00
R5086:Mdc1	UTSW	17	35848630	missense	probably benign	0.00
R5172:Mdc1	UTSW	17	35853090	missense	probably benign	0.00
R5254:Mdc1	UTSW	17	35847922	missense	probably benign	0.00
R5473:Mdc1	UTSW	17	35848060	missense	probably benign	0.01
R5550:Mdc1	UTSW	17	35845884	missense	possibly damaging	0.64
R5561:Mdc1	UTSW	17	35848546	missense	probably benign	0.00
R5888:Mdc1	UTSW	17	35847820	missense	probably benign	0.01
R6020:Mdc1	UTSW	17	35848633	missense	probably benign	0.04
R6020:Mdc1	UTSW	17	35857572	missense	probably benign	0.01
R6219:Mdc1	UTSW	17	35850674	missense	probably benign	0.10
R7053:Mdc1	UTSW	17	35846326	missense	probably benign	0.00
R7073:Mdc1	UTSW	17	35854068	missense	probably benign	0.18
R7077:Mdc1	UTSW	17	35845947	missense	probably damaging	0.97
R7424:Mdc1	UTSW	17	35853309	missense	probably benign	0.04
R7443:Mdc1	UTSW	17	35850820	missense	probably damaging	0.98
R7467:Mdc1	UTSW	17	35844556	missense	probably benign	0.29
R7655:Mdc1	UTSW	17	35850881	missense	probably benign	0.01
R7656:Mdc1	UTSW	17	35850881	missense	probably benign	0.01
R7960:Mdc1	UTSW	17	35850678	nonsense	probably null
R8350:Mdc1	UTSW	17	35848299	missense	probably benign	0.00
R8450:Mdc1	UTSW	17	35848299	missense	probably benign	0.00
R8688:Mdc1	UTSW	17	35850491	missense	probably benign	0.10
R8726:Mdc1	UTSW	17	35847583	missense	probably benign	0.04
R8919:Mdc1	UTSW	17	35847951	missense	probably benign	0.00
R8961:Mdc1	UTSW	17	35848515	missense	probably benign	0.10
R9324:Mdc1	UTSW	17	35853366	missense	probably benign	0.10
R9363:Mdc1	UTSW	17	35851127	missense	probably benign	0.00
R9385:Mdc1	UTSW	17	35850504	missense	probably benign	0.00
RF025:Mdc1	UTSW	17	35854407	critical splice acceptor site	probably benign
X0022:Mdc1	UTSW	17	35850937	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCAAGAGTGCCAAAGAGTGC -3'
(R):5'- TTGGGTAGGCTCATTTTCCAAAC -3'

Sequencing Primer
(F):5'- TGCCAAAGAGTGCTGTGATG -3'
(R):5'- AACTCTGGACAGCTGCCGAAG -3'

Posted On

2019-10-17