Incidental Mutation 'R2077:Nbn'
| ID |
229205 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nbn
|
| Ensembl Gene |
ENSMUSG00000028224 |
| Gene Name |
nibrin |
| Synonyms |
Nbs1 |
| MMRRC Submission |
040082-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2077 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
15957925-15992589 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 15979389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 458
(Y458F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029879]
[ENSMUST00000149069]
|
| AlphaFold |
Q9R207 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029879
AA Change: Y458F
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000029879
Gene: ENSMUSG00000028224
AA Change: Y458F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
FHA
|
23 |
83 |
2.27e-4 |
SMART |
|
BRCT
|
103 |
184 |
6.37e0 |
SMART |
|
Pfam:NIBRIN_BRCT_II
|
216 |
325 |
2.2e-34 |
PFAM |
|
low complexity region
|
557 |
565 |
N/A |
INTRINSIC |
|
Nbs1_C
|
680 |
744 |
2.14e-34 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149069
AA Change: Y458F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120829
Gene: ENSMUSG00000028224
AA Change: Y458F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
FHA
|
23 |
83 |
2.27e-4 |
SMART |
|
BRCT
|
103 |
184 |
6.37e0 |
SMART |
|
PDB:2K2W|A
|
217 |
326 |
3e-32 |
PDB |
|
| Meta Mutation Damage Score |
0.0627 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (48/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted mutations exhibit phenotypes ranging from impaired extraembryonic tissue growth and early embryonic death to growth retardation, lymphoid defects, lymphoma susceptibility, and failure of oogenesis. Null heterozygotes are cancer prone. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
T |
A |
4: 144,183,604 (GRCm39) |
|
probably benign |
Het |
| Abhd16b |
A |
C |
2: 181,135,209 (GRCm39) |
D37A |
probably benign |
Het |
| Acp7 |
T |
C |
7: 28,328,907 (GRCm39) |
E91G |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,599,291 (GRCm39) |
N1841K |
possibly damaging |
Het |
| Arhgap25 |
T |
A |
6: 87,436,990 (GRCm39) |
D620V |
probably damaging |
Het |
| Caps2 |
C |
T |
10: 112,035,632 (GRCm39) |
T371I |
possibly damaging |
Het |
| Ccdc175 |
A |
G |
12: 72,186,794 (GRCm39) |
I350T |
possibly damaging |
Het |
| Cdc25c |
G |
C |
18: 34,871,292 (GRCm39) |
L275V |
probably damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,265,630 (GRCm39) |
L1434P |
probably damaging |
Het |
| Cdkl3 |
A |
T |
11: 51,917,666 (GRCm39) |
E321V |
probably damaging |
Het |
| Clec2d |
G |
T |
6: 129,160,153 (GRCm39) |
V56L |
possibly damaging |
Het |
| Cops3 |
A |
T |
11: 59,715,136 (GRCm39) |
S301T |
possibly damaging |
Het |
| Crygd |
T |
C |
1: 65,102,405 (GRCm39) |
D19G |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,387,432 (GRCm39) |
I931M |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,250,251 (GRCm39) |
R4068S |
probably damaging |
Het |
| Fas |
C |
T |
19: 34,297,953 (GRCm39) |
|
probably benign |
Het |
| G6pd2 |
T |
A |
5: 61,967,594 (GRCm39) |
D456E |
probably damaging |
Het |
| Galnt18 |
G |
A |
7: 111,153,809 (GRCm39) |
R272W |
probably damaging |
Het |
| Grb2 |
C |
A |
11: 115,536,651 (GRCm39) |
G200W |
probably damaging |
Het |
| Herc4 |
A |
G |
10: 63,099,832 (GRCm39) |
N85S |
probably benign |
Het |
| Ighv7-2 |
T |
C |
12: 113,875,727 (GRCm39) |
D92G |
probably damaging |
Het |
| Itih3 |
A |
G |
14: 30,631,792 (GRCm39) |
V765A |
possibly damaging |
Het |
| Itm2b |
T |
C |
14: 73,600,560 (GRCm39) |
N247D |
probably benign |
Het |
| Kcnd3 |
T |
C |
3: 105,574,315 (GRCm39) |
V500A |
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,338,187 (GRCm39) |
G1198R |
probably damaging |
Het |
| Ltb4r2 |
A |
G |
14: 55,999,444 (GRCm39) |
T22A |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,702,136 (GRCm39) |
V355A |
probably damaging |
Het |
| Megf8 |
T |
A |
7: 25,053,163 (GRCm39) |
V1778E |
probably benign |
Het |
| Mroh2b |
G |
A |
15: 4,974,448 (GRCm39) |
E1143K |
probably damaging |
Het |
| Nlrc3 |
A |
G |
16: 3,781,856 (GRCm39) |
C534R |
probably benign |
Het |
| Nup155 |
A |
G |
15: 8,172,510 (GRCm39) |
E832G |
probably damaging |
Het |
| Or5w11 |
A |
G |
2: 87,459,173 (GRCm39) |
Y122C |
probably damaging |
Het |
| Plcl2 |
A |
G |
17: 50,913,857 (GRCm39) |
T289A |
probably benign |
Het |
| Ptprs |
C |
T |
17: 56,741,990 (GRCm39) |
R7Q |
probably null |
Het |
| Rab3ip |
A |
T |
10: 116,754,865 (GRCm39) |
D198E |
possibly damaging |
Het |
| Scaf4 |
A |
T |
16: 90,049,323 (GRCm39) |
F255I |
unknown |
Het |
| Senp6 |
T |
C |
9: 80,033,437 (GRCm39) |
S475P |
probably benign |
Het |
| Shpk |
T |
C |
11: 73,094,785 (GRCm39) |
L67P |
probably damaging |
Het |
| Sik3 |
T |
A |
9: 46,130,801 (GRCm39) |
Y1246N |
probably damaging |
Het |
| Slc44a2 |
A |
G |
9: 21,265,020 (GRCm39) |
Y686C |
probably damaging |
Het |
| Slc6a19 |
A |
G |
13: 73,848,685 (GRCm39) |
V23A |
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,435,575 (GRCm39) |
I169F |
possibly damaging |
Het |
| Stxbp5l |
A |
G |
16: 37,056,637 (GRCm39) |
V379A |
possibly damaging |
Het |
| Tex2 |
T |
C |
11: 106,397,690 (GRCm39) |
|
probably null |
Het |
| Tnpo3 |
A |
G |
6: 29,586,143 (GRCm39) |
V149A |
possibly damaging |
Het |
| Vmn1r158 |
T |
A |
7: 22,489,815 (GRCm39) |
R131S |
probably benign |
Het |
| Vmn2r24 |
T |
A |
6: 123,792,358 (GRCm39) |
C562S |
probably damaging |
Het |
| Wipi1 |
T |
C |
11: 109,468,490 (GRCm39) |
N368S |
probably benign |
Het |
| Zbtb41 |
T |
C |
1: 139,351,831 (GRCm39) |
S315P |
probably damaging |
Het |
|
| Other mutations in Nbn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00833:Nbn
|
APN |
4 |
15,964,320 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00921:Nbn
|
APN |
4 |
15,963,833 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01621:Nbn
|
APN |
4 |
15,965,221 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02372:Nbn
|
APN |
4 |
15,986,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03392:Nbn
|
APN |
4 |
15,962,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
nebish
|
UTSW |
4 |
15,965,132 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
zenobia
|
UTSW |
4 |
15,969,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Nbn
|
UTSW |
4 |
15,986,672 (GRCm39) |
splice site |
probably benign |
|
|
R0244:Nbn
|
UTSW |
4 |
15,979,353 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0432:Nbn
|
UTSW |
4 |
15,983,951 (GRCm39) |
unclassified |
probably benign |
|
|
R0946:Nbn
|
UTSW |
4 |
15,970,719 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1076:Nbn
|
UTSW |
4 |
15,970,719 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1563:Nbn
|
UTSW |
4 |
15,981,668 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1579:Nbn
|
UTSW |
4 |
15,964,289 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1660:Nbn
|
UTSW |
4 |
15,971,771 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1663:Nbn
|
UTSW |
4 |
15,970,903 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2005:Nbn
|
UTSW |
4 |
15,979,351 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2010:Nbn
|
UTSW |
4 |
15,969,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2228:Nbn
|
UTSW |
4 |
15,970,904 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2229:Nbn
|
UTSW |
4 |
15,970,904 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2356:Nbn
|
UTSW |
4 |
15,970,863 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2869:Nbn
|
UTSW |
4 |
15,963,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Nbn
|
UTSW |
4 |
15,963,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3508:Nbn
|
UTSW |
4 |
15,962,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3745:Nbn
|
UTSW |
4 |
15,976,163 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R3753:Nbn
|
UTSW |
4 |
15,964,269 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4756:Nbn
|
UTSW |
4 |
15,981,470 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5042:Nbn
|
UTSW |
4 |
15,981,446 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5177:Nbn
|
UTSW |
4 |
15,965,132 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5229:Nbn
|
UTSW |
4 |
15,963,893 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5368:Nbn
|
UTSW |
4 |
15,969,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5431:Nbn
|
UTSW |
4 |
15,986,593 (GRCm39) |
missense |
probably benign |
|
|
R6025:Nbn
|
UTSW |
4 |
15,981,347 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6375:Nbn
|
UTSW |
4 |
15,979,327 (GRCm39) |
missense |
probably benign |
|
|
R6543:Nbn
|
UTSW |
4 |
15,986,605 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6655:Nbn
|
UTSW |
4 |
15,981,696 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6965:Nbn
|
UTSW |
4 |
15,970,863 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7090:Nbn
|
UTSW |
4 |
15,981,350 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7159:Nbn
|
UTSW |
4 |
15,983,677 (GRCm39) |
splice site |
probably null |
|
|
R7241:Nbn
|
UTSW |
4 |
15,991,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7267:Nbn
|
UTSW |
4 |
15,979,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7597:Nbn
|
UTSW |
4 |
15,963,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7937:Nbn
|
UTSW |
4 |
15,958,080 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8110:Nbn
|
UTSW |
4 |
15,981,588 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8317:Nbn
|
UTSW |
4 |
15,970,893 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8327:Nbn
|
UTSW |
4 |
15,981,470 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8725:Nbn
|
UTSW |
4 |
15,963,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8727:Nbn
|
UTSW |
4 |
15,963,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8747:Nbn
|
UTSW |
4 |
15,981,555 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8909:Nbn
|
UTSW |
4 |
15,970,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8973:Nbn
|
UTSW |
4 |
15,986,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGGACTGGAACAAAGCTC -3'
(R):5'- AGAGAGAACTGACACCTTCTAGC -3'
Sequencing Primer
(F):5'- CTGGAACAAAGCTCTAGGAAACTTTC -3'
(R):5'- AGAACTGACACCTTCTAGCTATCTTC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation