Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03411:Mdc1'

421795

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: 0.943) question?

Stock #

IGL03411

Quality Score

Status

Chromosome

Chromosomal Location

36152407-36170562 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36164018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1189 (T1189A)

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: T1189A

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000080949
Gene: ENSMUSG00000061607
AA Change: T1189A

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

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,218,310 (GRCm39)	I305T	probably damaging	Het
Adamts18	G	A	8: 114,490,929 (GRCm39)	Q513*	probably null	Het
Adamts6	A	G	13: 104,450,842 (GRCm39)	I342V	possibly damaging	Het
Agtr1a	A	G	13: 30,565,582 (GRCm39)	T216A	possibly damaging	Het
Coro1b	A	G	19: 4,200,225 (GRCm39)		probably benign	Het
Cyp4a10	G	A	4: 115,382,890 (GRCm39)		probably null	Het
Cyp4x1	T	A	4: 114,965,982 (GRCm39)	Q448L	probably benign	Het
Ddx60	A	T	8: 62,430,916 (GRCm39)		probably null	Het
Exoc1	C	A	5: 76,690,042 (GRCm39)	A194D	probably damaging	Het
Fastkd1	A	C	2: 69,537,703 (GRCm39)	V293G	probably damaging	Het
Gm5773	T	C	3: 93,681,264 (GRCm39)	L312P	probably damaging	Het
Hhla1	A	G	15: 65,802,078 (GRCm39)		probably null	Het
Hmcn2	A	T	2: 31,236,649 (GRCm39)	E397D	possibly damaging	Het
Lig1	C	T	7: 13,030,694 (GRCm39)	R449C	probably damaging	Het
Muc4	G	A	16: 32,575,436 (GRCm39)	M1397I	probably benign	Het
Myh15	A	G	16: 48,980,330 (GRCm39)	E1484G	possibly damaging	Het
Neb	T	C	2: 52,182,890 (GRCm39)	I1019V	probably benign	Het
Nid1	T	C	13: 13,612,474 (GRCm39)	L63P	probably damaging	Het
Ogfod3	A	T	11: 121,068,630 (GRCm39)	*316R	probably null	Het
Or6z7	T	C	7: 6,483,435 (GRCm39)	K240R	probably benign	Het
Pdpk1	A	T	17: 24,320,618 (GRCm39)	V193E	probably damaging	Het
Phf3	G	T	1: 30,843,482 (GRCm39)	P1826T	probably damaging	Het
Pnliprp2	A	G	19: 58,748,847 (GRCm39)	I51V	probably benign	Het
Prpf4b	C	T	13: 35,079,342 (GRCm39)	L739F	probably damaging	Het
Rcbtb1	T	A	14: 59,447,419 (GRCm39)	M1K	probably null	Het
Rin2	A	G	2: 145,702,864 (GRCm39)	E520G	probably damaging	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Shpk	A	G	11: 73,105,861 (GRCm39)	T238A	probably benign	Het
Tmem132d	A	T	5: 128,061,347 (GRCm39)	Y418*	probably null	Het
Tpte	T	C	8: 22,815,553 (GRCm39)	V212A	possibly damaging	Het
Trim55	A	T	3: 19,713,354 (GRCm39)	Y135F	probably damaging	Het
Ttn	C	T	2: 76,598,456 (GRCm39)	A19486T	probably damaging	Het
Vmn2r59	A	T	7: 41,708,340 (GRCm39)	N22K	probably benign	Het
Vmn2r63	T	C	7: 42,577,368 (GRCm39)	D390G	probably benign	Het
Vmn2r96	A	G	17: 18,806,634 (GRCm39)	E527G	possibly damaging	Het
Vps13d	C	T	4: 144,875,894 (GRCm39)	E1538K	probably damaging	Het
Zfp64	T	C	2: 168,793,462 (GRCm39)		probably null	Het
Zfp827	A	G	8: 79,803,116 (GRCm39)	S563G	probably 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
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

2016-08-02