Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01473:Mdc1'

88362

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01473

Quality Score

Status

Chromosome

Chromosomal Location

36152407-36170562 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 36158912 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 431 (L431I)

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: L431I

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

SMART Domains

Protein: ENSMUSP00000080949
Gene: ENSMUSG00000061607
AA Change: L431I

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

Coding Region Coverage

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a5	T	C	16: 29,135,542 (GRCm39)	Y350C	probably damaging	Het
Clca3a1	C	T	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Clcn1	C	A	6: 42,268,637 (GRCm39)	A181D	probably damaging	Het
Cylc1	G	T	X: 110,166,449 (GRCm39)	K243N	unknown	Het
Dsp	A	G	13: 38,351,547 (GRCm39)	Y122C	probably damaging	Het
Exoc5	A	G	14: 49,251,751 (GRCm39)	V665A	possibly damaging	Het
Fcho1	G	A	8: 72,164,782 (GRCm39)	P500S	probably benign	Het
Flg2	A	G	3: 93,110,327 (GRCm39)	E785G	unknown	Het
Fpr1	A	G	17: 18,097,954 (GRCm39)	S12P	possibly damaging	Het
Hydin	G	T	8: 111,081,585 (GRCm39)	G327V	probably damaging	Het
Hydin	A	T	8: 111,038,792 (GRCm39)	M177L	probably benign	Het
Itga10	G	A	3: 96,554,957 (GRCm39)	G97E	probably damaging	Het
Khdc1c	T	A	1: 21,439,130 (GRCm39)	Y39N	possibly damaging	Het
Lrp1b	T	G	2: 40,501,498 (GRCm39)	T202P	probably damaging	Het
Marchf10	T	C	11: 105,280,431 (GRCm39)	K618R	probably damaging	Het
Mmp17	A	G	5: 129,683,472 (GRCm39)	D536G	probably benign	Het
Myh8	G	A	11: 67,192,651 (GRCm39)		probably null	Het
Odad3	C	A	9: 21,906,675 (GRCm39)		probably null	Het
Pop4	A	G	7: 37,963,820 (GRCm39)	V154A	probably benign	Het
Ppp1r13l	C	T	7: 19,109,193 (GRCm39)	R608C	probably damaging	Het
Prss36	T	C	7: 127,543,873 (GRCm39)	H166R	probably damaging	Het
Rab11fip3	C	T	17: 26,287,709 (GRCm39)	R148Q	possibly damaging	Het
Rbm39	T	A	2: 156,014,899 (GRCm39)	R49*	probably null	Het
S100a11	T	C	3: 93,433,413 (GRCm39)	C86R	probably damaging	Het
Skint7	T	C	4: 111,839,402 (GRCm39)	I232T	probably damaging	Het
Smchd1	G	A	17: 71,696,745 (GRCm39)	T1210I	probably benign	Het
Speg	C	T	1: 75,404,929 (GRCm39)	T2907I	possibly damaging	Het
Spz1	A	T	13: 92,711,764 (GRCm39)	C237*	probably null	Het
Sun3	G	T	11: 8,979,394 (GRCm39)	D42E	probably benign	Het
Tgds	C	T	14: 118,365,626 (GRCm39)		probably benign	Het
Tnxb	G	A	17: 34,904,675 (GRCm39)	D1270N	probably damaging	Het
Vmn2r78	A	C	7: 86,569,520 (GRCm39)	T138P	possibly damaging	Het
Wdfy1	T	C	1: 79,685,182 (GRCm39)	I351V	probably benign	Het

Other mutations in Mdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-11-18