Incidental Mutation 'R0054:Mdc1'
ID 41022
Institutional Source Beutler Lab
Gene Symbol Mdc1
Ensembl Gene ENSMUSG00000061607
Gene Name mediator of DNA damage checkpoint 1
Synonyms NFBD1
MMRRC Submission 038348-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.944) question?
Stock # R0054 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 36152407-36170562 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36159925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 678 (T678A)
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: T678A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000080949
Gene: ENSMUSG00000061607
AA Change: T678A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 12 18 N/A INTRINSIC
FHA 53 105 5.63e-9 SMART
Predicted Effect unknown
Transcript: ENSMUST00000225192
AA Change: T86A
Meta Mutation Damage Score 0.0680 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 99% (83/84)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,547,500 (GRCm39) probably null Het
Ahnak T A 19: 8,989,420 (GRCm39) V3568E probably damaging Het
Alpi T C 1: 87,027,487 (GRCm39) E293G possibly damaging Het
Apoa4 A G 9: 46,153,822 (GRCm39) D141G probably benign Het
Atg9a T C 1: 75,161,143 (GRCm39) Y701C probably damaging Het
Baz2b C T 2: 59,762,510 (GRCm39) R922Q probably damaging Het
Bmal2 T G 6: 146,731,216 (GRCm39) V507G probably benign Het
Bpnt1 G A 1: 185,073,413 (GRCm39) probably benign Het
Brms1 T A 19: 5,096,727 (GRCm39) C136* probably null Het
Ccdc180 T A 4: 45,890,900 (GRCm39) V24E probably benign Het
Cdh17 A G 4: 11,785,186 (GRCm39) Y326C possibly damaging Het
Cgn A T 3: 94,669,899 (GRCm39) D1080E possibly damaging Het
Clec4f C T 6: 83,629,911 (GRCm39) V216M probably benign Het
Cpd C G 11: 76,681,664 (GRCm39) G1160R probably damaging Het
Csf2ra A G 19: 61,215,035 (GRCm39) L143P probably damaging Het
Ddb2 G T 2: 91,065,165 (GRCm39) Q87K probably benign Het
Defb41 A G 1: 18,321,471 (GRCm39) Y48H probably damaging Het
Dido1 T C 2: 180,303,267 (GRCm39) N1546D probably benign Het
Dll1 A T 17: 15,589,216 (GRCm39) H486Q probably damaging Het
Dmac1 A G 4: 75,196,337 (GRCm39) V51A possibly damaging Het
Dnajb11 C T 16: 22,681,369 (GRCm39) A49V probably damaging Het
Dnajc14 G A 10: 128,643,448 (GRCm39) D457N probably damaging Het
Eif3a C A 19: 60,755,264 (GRCm39) D973Y unknown Het
Entpd3 T A 9: 120,386,608 (GRCm39) N196K probably damaging Het
Fam53a C A 5: 33,765,076 (GRCm39) G210V probably damaging Het
Farsb T A 1: 78,439,011 (GRCm39) K395* probably null Het
Fem1b A G 9: 62,704,082 (GRCm39) S393P probably damaging Het
Fsip2 T A 2: 82,806,952 (GRCm39) D1090E probably damaging Het
Fsip2 A C 2: 82,817,299 (GRCm39) N4344T possibly damaging Het
Gata3 G A 2: 9,863,258 (GRCm39) P419S probably damaging Het
Gm7247 T A 14: 51,807,057 (GRCm39) probably benign Het
Gphn A G 12: 78,684,277 (GRCm39) S558G probably damaging Het
Gpr142 C A 11: 114,689,755 (GRCm39) H2Q probably benign Het
Grhpr T C 4: 44,988,915 (GRCm39) probably benign Het
Grik3 C A 4: 125,517,368 (GRCm39) N70K probably damaging Het
Gsap T A 5: 21,455,933 (GRCm39) probably benign Het
Iars1 T A 13: 49,846,611 (GRCm39) C237S probably damaging Het
Itprid1 T C 6: 55,849,457 (GRCm39) probably benign Het
Kank2 G A 9: 21,685,970 (GRCm39) R635* probably null Het
Kcnj16 G T 11: 110,915,549 (GRCm39) W70C probably damaging Het
Kpna6 T C 4: 129,551,251 (GRCm39) M85V probably benign Het
Kri1 G A 9: 21,186,661 (GRCm39) S447L probably damaging Het
L2hgdh G A 12: 69,768,105 (GRCm39) P131L possibly damaging Het
Lrp1b A G 2: 40,632,829 (GRCm39) V3528A probably benign Het
Lrrc46 A T 11: 96,929,605 (GRCm39) L77Q probably damaging Het
Mrpl44 T C 1: 79,757,212 (GRCm39) L219S probably damaging Het
Myo7a T C 7: 97,714,905 (GRCm39) D112G probably damaging Het
Ncoa3 A G 2: 165,897,098 (GRCm39) T630A possibly damaging Het
Nsl1 T C 1: 190,814,381 (GRCm39) L194P probably damaging Het
Or4k39 G A 2: 111,239,140 (GRCm39) G127S probably benign Het
Or5ac23 T C 16: 59,149,428 (GRCm39) Y148C possibly damaging Het
Or8u10 T C 2: 85,915,705 (GRCm39) K139E probably benign Het
Pde4d A G 13: 109,876,955 (GRCm39) S159G probably benign Het
Pi4ka T C 16: 17,142,978 (GRCm39) R845G probably null Het
Pld1 A G 3: 28,150,033 (GRCm39) probably benign Het
Pramel25 T A 4: 143,521,572 (GRCm39) L396H probably damaging Het
Psd T A 19: 46,311,781 (GRCm39) I300F probably damaging Het
Ptprz1 T A 6: 22,986,195 (GRCm39) W332R probably damaging Het
Rab3d A T 9: 21,827,222 (GRCm39) S3T possibly damaging Het
Rnf212 T A 5: 108,893,530 (GRCm39) M70L possibly damaging Het
Scd3 A G 19: 44,204,076 (GRCm39) Y88C probably damaging Het
Sema4f A G 6: 82,896,674 (GRCm39) probably benign Het
Sez6 C A 11: 77,844,699 (GRCm39) T7K possibly damaging Het
Skint2 T C 4: 112,502,660 (GRCm39) I290T probably benign Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slc4a4 A C 5: 89,304,195 (GRCm39) H502P possibly damaging Het
Slc5a3 T A 16: 91,874,522 (GRCm39) I193N probably damaging Het
Slc5a4a A G 10: 76,014,031 (GRCm39) I413V probably null Het
Snip1 T A 4: 124,966,633 (GRCm39) Y354* probably null Het
Spata31d1c A G 13: 65,180,876 (GRCm39) probably benign Het
Speer2 G A 16: 69,655,640 (GRCm39) T62M probably damaging Het
Tmco5 A G 2: 116,717,768 (GRCm39) Y200C probably damaging Het
Tmem87b T A 2: 128,673,361 (GRCm39) probably benign Het
Trim43c A T 9: 88,729,568 (GRCm39) K336N probably damaging Het
Trim60 T C 8: 65,453,973 (GRCm39) E92G probably benign Het
Ttc21a C A 9: 119,773,006 (GRCm39) Q228K probably damaging Het
Ttn A T 2: 76,626,804 (GRCm39) D13067E possibly damaging Het
Ufl1 A T 4: 25,269,087 (GRCm39) I168N probably damaging Het
Vmn1r167 T G 7: 23,204,334 (GRCm39) R227S possibly damaging Het
Vmn2r25 T A 6: 123,829,984 (GRCm39) I56L probably benign Het
Zfp385c G A 11: 100,520,782 (GRCm39) P293S probably benign Het
Zfp473 T A 7: 44,383,899 (GRCm39) S144C probably damaging Het
Other mutations in Mdc1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- AGCCAGCACCCAGAAGGTGA -3'
(R):5'- cttaaccactgagccaAGCCCAT -3'

Sequencing Primer
(F):5'- CCCAGAAGGTGAGGACATTGTG -3'
(R):5'- tgaagtcctcgtccatccc -3'
Posted On 2013-05-23