Mutagenetix > Incidental Mutation

Incidental Mutation 'R2842:Mdc1'

254358

Institutional Source

Beutler Lab

Gene Symbol

Mdc1

Ensembl Gene

ENSMUSG00000061607

Gene Name

mediator of DNA damage checkpoint 1

Synonyms

NFBD1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R2842 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36152407-36170562 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36159686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 648 (P648S)

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: P648S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000080949
Gene: ENSMUSG00000061607
AA Change: P648S

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

unknown
Transcript: ENSMUST00000225192
AA Change: P56S

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aplp2	C	T	9: 31,069,122 (GRCm39)	R569Q	probably benign	Het
Arl8a	T	C	1: 135,082,989 (GRCm39)	S181P	probably damaging	Het
Armc8	A	G	9: 99,387,734 (GRCm39)	S396P	probably benign	Het
Baz2b	A	G	2: 59,743,348 (GRCm39)	V1541A	probably benign	Het
Crebbp	G	A	16: 3,927,062 (GRCm39)	R628C	probably damaging	Het
Ep400	T	A	5: 110,846,681 (GRCm39)	K295*	probably null	Het
Frem3	T	A	8: 81,395,978 (GRCm39)		probably null	Het
Gon4l	T	C	3: 88,802,794 (GRCm39)	V1135A	probably damaging	Het
Gprc5b	G	A	7: 118,583,302 (GRCm39)	T189M	possibly damaging	Het
Gucy2g	C	T	19: 55,229,379 (GRCm39)	C97Y	probably damaging	Het
Heatr5a	T	A	12: 52,002,261 (GRCm39)	K225M	probably null	Het
Heatr5a	C	T	12: 52,002,260 (GRCm39)		probably null	Het
Insr	A	G	8: 3,252,986 (GRCm39)	I391T	probably damaging	Het
Lce1e	T	A	3: 92,615,056 (GRCm39)	H97L	unknown	Het
Macf1	A	G	4: 123,270,210 (GRCm39)	V6647A	probably damaging	Het
Mast1	T	C	8: 85,650,537 (GRCm39)	R399G	probably damaging	Het
Mast4	C	A	13: 102,872,939 (GRCm39)	S1951I	probably benign	Het
Mgam	T	C	6: 40,638,279 (GRCm39)	F410L	probably benign	Het
Nr2e1	T	C	10: 42,444,441 (GRCm39)	R223G	probably damaging	Het
Otud7b	G	A	3: 96,043,905 (GRCm39)	E19K	probably damaging	Het
Plce1	T	C	19: 38,512,727 (GRCm39)	S9P	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Plxna4	A	G	6: 32,192,566 (GRCm39)		probably null	Het
Prkag3	T	C	1: 74,780,334 (GRCm39)	I444V	probably benign	Het
Rsph10b	T	G	5: 143,916,710 (GRCm39)	V310G	possibly damaging	Het
Tmem225	T	C	9: 40,061,097 (GRCm39)	Y135H	probably damaging	Het
Tox2	G	A	2: 163,046,550 (GRCm39)		probably benign	Het
Ttc3	C	T	16: 94,232,857 (GRCm39)	P1003L	probably damaging	Het
Wfikkn2	G	A	11: 94,129,085 (GRCm39)	T352I	probably benign	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
R2121:Mdc1	UTSW	17	36,158,835 (GRCm39)	missense	probably benign	0.03
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
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'- TGGAGCAAGTGGTGATACATAC -3'
(R):5'- AGAACGCCAGGGTCTCATAC -3'

Sequencing Primer
(F):5'- TACAGATACTTCAGGGGATCCC -3'
(R):5'- ATACCCTACTTGGCCACATCG -3'

Posted On

2014-12-04