Mutagenetix > Incidental Mutation

Incidental Mutation 'R7424:Mdc1'

575955

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: 0.941) question?

Stock #

R7424 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35841515-35859670 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35853309 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1250 (S1250P)

Ref Sequence

ENSEMBL: ENSMUSP00000080949 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000082337
AA Change: S1250P

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

SMART Domains

Protein: ENSMUSP00000080949
Gene: ENSMUSG00000061607
AA Change: S1250P

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: ENSMUST00000225192

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (76/77)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	C	T	8: 120,145,545	R71C	probably damaging	Het
Aanat	A	T	11: 116,595,629		probably benign	Het
Ahrr	G	T	13: 74,257,545	S91*	probably null	Het
Ampd1	A	T	3: 103,088,442	N223Y	probably benign	Het
Ankar	T	G	1: 72,680,058	N544T	probably damaging	Het
Ankk1	A	G	9: 49,418,750	S302P	possibly damaging	Het
Bcr	T	C	10: 75,157,100	V809A	probably benign	Het
Bpifb2	A	G	2: 153,890,540	N353S	possibly damaging	Het
Cyth1	A	T	11: 118,184,009		probably null	Het
Ddx5	A	T	11: 106,782,180	N506K	probably benign	Het
Dnaja1	A	T	4: 40,730,244	I239F	probably benign	Het
Ethe1	C	T	7: 24,606,251	T141I	probably damaging	Het
Fam160b2	T	C	14: 70,594,007	H29R	probably damaging	Het
Gdap2	A	T	3: 100,202,066	I36F	unknown	Het
Gm13030	A	T	4: 138,871,266	D115E	unknown	Het
Gm13103	C	T	4: 143,853,209	P455S	probably benign	Het
Gm17019	A	T	5: 15,029,372	L227Q	probably damaging	Het
Gm9195	T	A	14: 72,435,777	E2517D	possibly damaging	Het
Gramd2	T	A	9: 59,708,071	V39D	possibly damaging	Het
Hmcn1	C	T	1: 150,630,266	W3836*	probably null	Het
Hspa14	C	T	2: 3,489,041	D494N	possibly damaging	Het
Ifit2	A	G	19: 34,573,198	N46S	probably benign	Het
Ifna6	A	T	4: 88,827,807	E131V	possibly damaging	Het
Ift140	T	C	17: 25,037,036	V504A	possibly damaging	Het
Irgc1	T	C	7: 24,432,228	N388S	probably damaging	Het
Itgal	T	A	7: 127,317,365	V743E	probably benign	Het
Itih5	T	C	2: 10,245,637	S716P	probably damaging	Het
Kcnab1	A	T	3: 65,266,503	K78N	possibly damaging	Het
Kif1a	A	T	1: 93,054,317	V787E	possibly damaging	Het
Krt15	A	T	11: 100,135,560	V100E	possibly damaging	Het
Krt39	A	T	11: 99,518,091	V293E	probably damaging	Het
Lrrn4	A	G	2: 132,869,743	F720S	possibly damaging	Het
Map2	G	A	1: 66,414,824	A958T	possibly damaging	Het
Map3k9	A	G	12: 81,724,097	S906P	probably benign	Het
Meltf	G	A	16: 31,884,946	V164I	probably damaging	Het
Mtap	T	G	4: 89,179,462		probably null	Het
Mtus1	C	A	8: 41,022,406	V184F	probably damaging	Het
Myh1	A	T	11: 67,213,663	D1015V	probably damaging	Het
Ndrg1	T	C	15: 66,944,938		probably null	Het
Nkd1	G	T	8: 88,585,175	V130L	probably benign	Het
Nsfl1c	A	G	2: 151,500,753	D81G	probably benign	Het
Nt5c1b	T	A	12: 10,381,391		probably null	Het
Nucb1	T	C	7: 45,498,778	K204E	possibly damaging	Het
Nwd1	T	G	8: 72,675,173	M774R	possibly damaging	Het
Olfr165	A	T	16: 19,407,194	V274E	probably damaging	Het
Olfr262	A	T	19: 12,240,954	S236T	possibly damaging	Het
Olfr654	G	C	7: 104,588,700	E299Q	probably damaging	Het
Pan3	T	A	5: 147,536,272		probably null	Het
Pcdh15	A	T	10: 74,506,485	T1135S	probably benign	Het
Pfas	A	G	11: 69,000,092	I331T	probably damaging	Het
Plxna2	T	A	1: 194,806,339	I1641N	probably damaging	Het
Ptar1	A	T	19: 23,718,101	R311W	probably damaging	Het
Ranbp2	T	G	10: 58,479,194	M1912R	probably damaging	Het
Rbm12	A	G	2: 156,097,303	F350L	possibly damaging	Het
Sdhaf1	T	C	7: 30,322,043	D96G	probably benign	Het
Serpinb6b	T	A	13: 32,968,667	M53K	probably damaging	Het
Sh2d6	A	T	6: 72,517,164	L147Q	probably benign	Het
Slc19a2	T	A	1: 164,260,876	C298S	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,334		probably benign	Het
St8sia2	T	A	7: 73,960,902	Q211L	possibly damaging	Het
Sult2a2	T	C	7: 13,734,897	I96T	possibly damaging	Het
Tab2	G	T	10: 7,907,483	H678Q	probably damaging	Het
Tnfaip6	A	G	2: 52,038,216	E14G	probably benign	Het
Trip11	A	T	12: 101,885,198	L869H	probably damaging	Het
Tslp	T	C	18: 32,819,080	Y133H	not run	Het
Ttn	T	C	2: 76,740,990	I26520V	probably damaging	Het
Ttn	A	G	2: 76,932,143	V3374A	unknown	Het
Tubgcp2	T	A	7: 140,007,924	I263F	possibly damaging	Het
Uaca	A	G	9: 60,870,110	E593G	probably damaging	Het
Unc13b	C	T	4: 43,172,235	T1021I	unknown	Het
Ush1c	T	A	7: 46,225,555	I131F	probably benign	Het
Usp24	C	A	4: 106,379,107	D997E	probably benign	Het
Usp54	T	C	14: 20,577,040	T517A	probably benign	Het
Vmn1r151	A	T	7: 22,499,080	M200K	possibly damaging	Het
Vmn2r43	T	C	7: 8,255,329	D295G	probably damaging	Het
Vmn2r70	G	A	7: 85,563,868	P444S	probably damaging	Het
Vmn2r85	G	T	10: 130,418,980	P612T	probably damaging	Het
Vps13d	A	T	4: 145,148,747	V1736D		Het
Zbtb11	A	T	16: 55,990,487	H336L	probably benign	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
R7443:Mdc1	UTSW	17	35850820	missense	probably damaging	0.98
R7467:Mdc1	UTSW	17	35844556	missense	probably benign	0.29
R7549:Mdc1	UTSW	17	35848857	missense	probably null	0.04
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'- GAACAGCCTGTTATCCCTGAAC -3'
(R):5'- ATGTCCTTCCCTGAGTGACC -3'

Sequencing Primer
(F):5'- GTTATCCCTGAACCTAGGGC -3'
(R):5'- CCTGAGTGACCAGAGCTGTAG -3'

Posted On

2019-10-07