Mutagenetix > Incidental Mutation

Incidental Mutation 'R1912:Mdc1'

210459

Institutional Source

Beutler Lab

Gene Symbol

Mdc1

Ensembl Gene

ENSMUSG00000061607

Gene Name

mediator of DNA damage checkpoint 1

Synonyms

NFBD1

MMRRC Submission

039930-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R1912 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36152407-36170562 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36155430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 35 (R35H)

Ref Sequence

ENSEMBL: ENSMUSP00000133568 (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: R35H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000080949
Gene: ENSMUSG00000061607
AA Change: R35H

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
AA Change: R35H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000133568
Gene: ENSMUSG00000061607
AA Change: R35H

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

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.8%

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: 121 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	A	G	7: 12,288,582 (GRCm39)	M132V	probably benign	Het
4921524L21Rik	T	A	18: 6,620,205 (GRCm39)	I45N	possibly damaging	Het
Abcb6	A	G	1: 75,156,599 (GRCm39)	V55A	probably benign	Het
Adam28	A	T	14: 68,881,780 (GRCm39)	D105E	probably benign	Het
Ahnak	T	C	19: 8,995,245 (GRCm39)	S5510P	probably damaging	Het
Aldh3b1	T	G	19: 3,971,187 (GRCm39)	D159A	probably damaging	Het
Alx1	A	G	10: 102,861,222 (GRCm39)	L102P	probably damaging	Het
Ankrd50	C	T	3: 38,510,925 (GRCm39)	V481I	probably benign	Het
Aox4	G	T	1: 58,303,561 (GRCm39)	G1200W	probably damaging	Het
Arhgap45	A	C	10: 79,856,524 (GRCm39)	D24A	probably benign	Het
Arhgef16	A	T	4: 154,364,780 (GRCm39)		probably null	Het
Asic4	A	T	1: 75,445,876 (GRCm39)	Y235F	possibly damaging	Het
Asph	T	C	4: 9,453,335 (GRCm39)	E646G	probably damaging	Het
Atg4d	A	G	9: 21,183,935 (GRCm39)	D350G	probably damaging	Het
Auts2	T	C	5: 131,472,412 (GRCm39)	T347A	probably damaging	Het
Bsnd	A	T	4: 106,345,227 (GRCm39)	L73*	probably null	Het
Cachd1	A	T	4: 100,810,366 (GRCm39)	S323C	probably damaging	Het
Cacna1e	A	G	1: 154,312,195 (GRCm39)	I1290T	probably damaging	Het
Cdh8	T	A	8: 99,825,502 (GRCm39)	N498Y	probably damaging	Het
Cdkn3	A	G	14: 47,007,291 (GRCm39)		probably null	Het
Celf2	A	T	2: 6,620,564 (GRCm39)	M40K	probably damaging	Het
Cfap57	A	C	4: 118,472,207 (GRCm39)	S57R	probably damaging	Het
Cfh	A	G	1: 140,063,879 (GRCm39)		probably null	Het
Chdh	A	G	14: 29,754,745 (GRCm39)	S252G	probably benign	Het
Col8a1	T	A	16: 57,448,287 (GRCm39)	I408F	unknown	Het
Corin	C	T	5: 72,515,746 (GRCm39)	C303Y	probably damaging	Het
Crlf2	C	T	5: 109,705,007 (GRCm39)	C66Y	possibly damaging	Het
Csmd1	C	T	8: 16,284,012 (GRCm39)		probably null	Het
Cyp4f16	T	C	17: 32,764,018 (GRCm39)	V270A	probably damaging	Het
Defa29	T	A	8: 21,816,028 (GRCm39)	H113L	possibly damaging	Het
Dhx35	A	T	2: 158,684,227 (GRCm39)	N501Y	probably damaging	Het
Dipk1b	A	G	2: 26,522,716 (GRCm39)	E55G	probably damaging	Het
Dst	A	G	1: 34,330,931 (GRCm39)	R4690G	probably damaging	Het
Elac2	T	A	11: 64,885,089 (GRCm39)	D439E	probably benign	Het
Ercc6	A	G	14: 32,298,760 (GRCm39)	R1383G	probably damaging	Het
Fat3	T	A	9: 15,881,284 (GRCm39)	Y3196F	probably damaging	Het
Fbxw13	A	T	9: 109,010,611 (GRCm39)	D342E	probably benign	Het
Fmod	A	G	1: 133,968,458 (GRCm39)	N166S	possibly damaging	Het
Folh1	A	G	7: 86,412,175 (GRCm39)	S199P	possibly damaging	Het
Fv1	A	G	4: 147,954,235 (GRCm39)	N267S	possibly damaging	Het
Fyn	T	C	10: 39,402,828 (GRCm39)	V200A	possibly damaging	Het
Gfus	A	T	15: 75,797,498 (GRCm39)	D278E	possibly damaging	Het
Ggnbp2	T	C	11: 84,753,122 (GRCm39)	N39S	probably benign	Het
Gm10509	A	T	17: 21,909,831 (GRCm39)	I53F	possibly damaging	Het
Gpr139	A	T	7: 118,744,102 (GRCm39)	I161N	possibly damaging	Het
Grhl2	C	T	15: 37,358,651 (GRCm39)	T148I	probably damaging	Het
Hmcn1	C	A	1: 150,480,633 (GRCm39)	M4514I	probably benign	Het
Igsf10	T	G	3: 59,236,993 (GRCm39)	T1063P	probably benign	Het
Itgav	A	G	2: 83,625,830 (GRCm39)	Y792C	possibly damaging	Het
Itgb2l	T	C	16: 96,228,135 (GRCm39)	Q456R	probably benign	Het
Jph4	G	A	14: 55,345,818 (GRCm39)	A613V	probably benign	Het
Kcna2	A	G	3: 107,012,717 (GRCm39)	T433A	probably benign	Het
Kmt2e	A	G	5: 23,697,393 (GRCm39)	K97R	probably benign	Het
Krba1	C	A	6: 48,392,699 (GRCm39)	A871E	probably benign	Het
Loxhd1	T	C	18: 77,427,833 (GRCm39)	F468L	probably benign	Het
Lpin1	A	G	12: 16,596,728 (GRCm39)	V713A	probably damaging	Het
Ltbp2	T	A	12: 84,832,637 (GRCm39)	I67F	probably damaging	Het
Mgam	C	T	6: 40,741,119 (GRCm39)	Q959*	probably null	Het
Mttp	T	A	3: 137,821,788 (GRCm39)	T260S	probably benign	Het
Naalad2	A	T	9: 18,287,831 (GRCm39)	D266E	probably benign	Het
Nans	T	A	4: 46,500,162 (GRCm39)	L182H	probably damaging	Het
Nbas	T	A	12: 13,616,145 (GRCm39)	C2228S	probably benign	Het
Nfix	A	T	8: 85,448,306 (GRCm39)	V407E	probably damaging	Het
Nktr	T	A	9: 121,579,306 (GRCm39)		probably benign	Het
Nlrp10	G	A	7: 108,524,602 (GRCm39)	R293*	probably null	Het
Nrxn3	T	C	12: 88,762,112 (GRCm39)	F53S	probably damaging	Het
Or11h4	G	A	14: 50,974,235 (GRCm39)	P128L	probably damaging	Het
Or12e7	T	C	2: 87,287,727 (GRCm39)	S73P	probably damaging	Het
Or1e21	A	T	11: 73,344,820 (GRCm39)	F73I	probably damaging	Het
Or2f2	T	C	6: 42,767,411 (GRCm39)	I146T	probably benign	Het
Or3a1c	T	C	11: 74,046,711 (GRCm39)	C244R	probably damaging	Het
Or5ak24	T	A	2: 85,260,604 (GRCm39)	N190Y	probably damaging	Het
Or5p68	A	G	7: 107,946,014 (GRCm39)	L58P	probably damaging	Het
Or6d12	A	G	6: 116,492,950 (GRCm39)	T71A	probably benign	Het
Oxld1	A	G	11: 120,347,732 (GRCm39)	V155A	probably damaging	Het
Pamr1	T	A	2: 102,472,645 (GRCm39)	F648Y	probably damaging	Het
Parg	T	C	14: 31,932,497 (GRCm39)	W446R	probably damaging	Het
Pate13	A	T	9: 35,819,915 (GRCm39)	T23S	probably benign	Het
Phf3	A	T	1: 30,843,426 (GRCm39)	H1844Q	probably damaging	Het
Phf7	T	C	14: 30,962,281 (GRCm39)	I175V	possibly damaging	Het
Pibf1	G	A	14: 99,425,245 (GRCm39)		probably null	Het
Plcxd1	A	G	5: 110,251,308 (GRCm39)	I295V	probably benign	Het
Pole2	A	C	12: 69,256,764 (GRCm39)	Y254D	probably damaging	Het
Ppm1e	T	A	11: 87,135,196 (GRCm39)	I225F	probably benign	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Resf1	T	A	6: 149,230,342 (GRCm39)	D1129E	possibly damaging	Het
Rnase2b	T	G	14: 51,400,357 (GRCm39)	V146G	probably damaging	Het
Rnf169	G	A	7: 99,575,461 (GRCm39)	T378I	probably damaging	Het
Rpf2	A	G	10: 40,112,197 (GRCm39)	F80L	probably benign	Het
Sec11c	T	A	18: 65,947,945 (GRCm39)	D128E	probably damaging	Het
Septin12	A	G	16: 4,806,417 (GRCm39)	V248A	probably damaging	Het
Serinc1	T	C	10: 57,401,547 (GRCm39)	N82S	probably benign	Het
Serpina9	A	C	12: 103,967,508 (GRCm39)	W296G	probably damaging	Het
Sgo2b	A	C	8: 64,384,503 (GRCm39)	D164E	probably damaging	Het
Slc15a3	A	G	19: 10,825,977 (GRCm39)	N223D	probably damaging	Het
Slc44a3	A	G	3: 121,325,815 (GRCm39)	Y12H	probably benign	Het
Slco3a1	A	G	7: 74,154,359 (GRCm39)	F42S	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Snx7	A	T	3: 117,623,317 (GRCm39)		probably null	Het
Sorl1	A	T	9: 41,993,246 (GRCm39)	D259E	probably damaging	Het
Stpg2	G	A	3: 139,228,742 (GRCm39)		probably null	Het
Strn	T	A	17: 78,991,824 (GRCm39)	Y165F	probably damaging	Het
Sval2	T	A	6: 41,841,254 (GRCm39)	*106R	probably null	Het
Tcaf3	A	G	6: 42,573,622 (GRCm39)	S197P	possibly damaging	Het
Tespa1	C	A	10: 130,190,592 (GRCm39)	T73N	probably benign	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Thoc5	C	A	11: 4,865,561 (GRCm39)	T380K	probably benign	Het
Tmprss7	T	A	16: 45,476,911 (GRCm39)	R784*	probably null	Het
Trank1	A	T	9: 111,219,777 (GRCm39)	L2171F	probably benign	Het
Trpm2	T	G	10: 77,781,710 (GRCm39)	K303T	probably benign	Het
Unc80	G	A	1: 66,549,784 (GRCm39)	V681M	probably damaging	Het
Usp40	A	G	1: 87,874,368 (GRCm39)	F1131L	probably benign	Het
Vmn1r215	A	T	13: 23,260,673 (GRCm39)	I238F	possibly damaging	Het
Vwa3a	A	T	7: 120,394,850 (GRCm39)	Y890F	probably damaging	Het
Zdhhc18	A	G	4: 133,341,171 (GRCm39)	L234P	probably damaging	Het
Zfp109	A	G	7: 23,927,676 (GRCm39)	S578P	probably damaging	Het
Zfp704	T	C	3: 9,674,418 (GRCm39)	D121G	unknown	Het
Zgrf1	G	T	3: 127,356,786 (GRCm39)	V671L	probably benign	Het
Zkscan8	A	T	13: 21,704,927 (GRCm39)	C265*	probably null	Het
Zscan26	T	C	13: 21,629,310 (GRCm39)	I398V	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- CACCCCTGAATATTGTTACATGC -3'
(R):5'- TCAACTCAGGTGGCCTCTTTG -3'

Sequencing Primer
(F):5'- GGAAATCATCACCTCATGGTTG -3'
(R):5'- AGTGGTACAGTTATTCATATCCCC -3'

Posted On

2014-06-30