Mutagenetix > Incidental Mutations

Incidental Mutation 'R2010:Nbn'

219441

Institutional Source

Beutler Lab

Gene Symbol

Nbn

Ensembl Gene

ENSMUSG00000028224

Gene Name

nibrin

Synonyms

Nbs1

MMRRC Submission

040019-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2010 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15957925-15992589 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15969393 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 213 (S213P)

Ref Sequence

ENSEMBL: ENSMUSP00000120829 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029879] [ENSMUST00000149069]

AlphaFold

Q9R207

Predicted Effect

probably damaging
Transcript: ENSMUST00000029879
AA Change: S213P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029879
Gene: ENSMUSG00000028224
AA Change: S213P

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

noncoding transcript
Transcript: ENSMUST00000118701

Predicted Effect

probably damaging
Transcript: ENSMUST00000149069
AA Change: S213P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120829
Gene: ENSMUSG00000028224
AA Change: S213P

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.6%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	G	A	3: 36,481,806	G74S	unknown	Het
4930452B06Rik	A	T	14: 8,511,021	F464L	probably damaging	Het
4932438A13Rik	T	G	3: 36,928,551	N788K	probably benign	Het
Aimp1	A	T	3: 132,667,492	L229Q	probably benign	Het
Arhgef6	T	C	X: 57,299,505	T52A	possibly damaging	Het
Aste1	C	A	9: 105,403,502	H25Q	probably damaging	Het
Atp13a1	G	A	8: 69,791,360	G36R	possibly damaging	Het
Bahcc1	T	C	11: 120,272,778	V634A	probably damaging	Het
C1s1	A	T	6: 124,537,394	Y168N	probably damaging	Het
Camsap2	T	C	1: 136,274,868	S612G	probably damaging	Het
Cdh23	C	A	10: 60,314,227	R2611L	probably damaging	Het
Cilp2	A	G	8: 69,881,694	Y885H	probably damaging	Het
D430042O09Rik	A	G	7: 125,872,956	I1544M	possibly damaging	Het
Dhrs3	C	T	4: 144,927,188	T227I	possibly damaging	Het
Dnah2	A	T	11: 69,458,358		probably null	Het
Dnah3	T	G	7: 120,095,177	M1L	probably benign	Het
Ehbp1l1	A	G	19: 5,719,283	I664T	probably benign	Het
Eif4e	C	T	3: 138,555,458	T171I	probably benign	Het
Elfn1	C	T	5: 139,973,316	R692W	probably damaging	Het
Eps8l3	T	A	3: 107,879,372	M1K	probably null	Het
Evi5	C	A	5: 107,813,545		probably null	Het
Fancd2	A	T	6: 113,593,291	D1401V	probably damaging	Het
Fat2	G	A	11: 55,253,827	R4074C	probably damaging	Het
Fkbp4	A	T	6: 128,435,802	V55E	probably benign	Het
Fnip1	A	G	11: 54,482,503	D180G	probably damaging	Het
Galc	A	G	12: 98,254,230	F126S	possibly damaging	Het
Gdf7	C	T	12: 8,301,729	V69M	unknown	Het
Glis2	A	G	16: 4,608,711	E22G	probably damaging	Het
Hist1h2bb	G	A	13: 23,747,128	V112M	possibly damaging	Het
Hps4	T	A	5: 112,369,476	V243E	probably damaging	Het
Ighe	T	A	12: 113,271,488	I351F	unknown	Het
Irak4	A	T	15: 94,551,806	R55S	probably damaging	Het
Itpr2	G	A	6: 146,227,524		probably null	Het
Kirrel3	T	C	9: 34,939,198	Y41H	probably damaging	Het
Krr1	A	G	10: 111,975,569	E56G	possibly damaging	Het
Lgi1	G	A	19: 38,301,235	V250I	probably damaging	Het
Lipf	A	G	19: 33,973,546	N306D	probably benign	Het
Lman2l	C	T	1: 36,445,181	W18*	probably null	Het
Lztfl1	T	A	9: 123,702,186	N239I	possibly damaging	Het
Mief1	T	C	15: 80,247,925	S66P	possibly damaging	Het
Mmp8	C	A	9: 7,567,534	S465*	probably null	Het
Muc2	A	T	7: 141,700,875	T208S	probably damaging	Het
Myh8	A	T	11: 67,297,164	K921*	probably null	Het
Myh9	T	C	15: 77,771,947	E1121G	probably benign	Het
Nol10	A	G	12: 17,416,101	E499G	probably benign	Het
Nxn	T	C	11: 76,398,801	E87G	probably damaging	Het
Olfr293	A	G	7: 86,664,603	T314A	probably benign	Het
Olfr568	T	A	7: 102,877,685	C188*	probably null	Het
Olfr937	T	C	9: 39,060,099	H189R	probably benign	Het
Pds5b	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	5: 150,775,354		probably benign	Het
Pigk	A	G	3: 152,766,514	I354M	probably damaging	Het
Pigl	T	A	11: 62,458,682	C75S	probably damaging	Het
Pm20d1	T	A	1: 131,812,114	I400N	probably benign	Het
Prkg2	T	A	5: 99,024,805	H17L	probably benign	Het
Psmd1	T	A	1: 86,075,997	L168Q	probably damaging	Het
Rab3gap2	A	T	1: 185,278,281	H1136L	possibly damaging	Het
Rb1	T	C	14: 73,294,993	T134A	probably benign	Het
Rims1	T	C	1: 22,296,996	E1024G	probably damaging	Het
Rrp12	A	G	19: 41,872,937	V977A	probably benign	Het
Rusc2	C	T	4: 43,415,212	P173S	probably benign	Het
Selenov	A	T	7: 28,288,022	D310E	probably damaging	Het
Serpina3f	T	A	12: 104,217,323	L148Q	probably damaging	Het
Slc10a1	C	T	12: 80,960,447	V187I	probably benign	Het
Spsb2	A	G	6: 124,810,376	K258E	probably damaging	Het
Tas2r105	A	C	6: 131,687,402	V21G	probably benign	Het
Tmem229b-ps	T	A	10: 53,475,199		noncoding transcript	Het
Tnrc6a	C	G	7: 123,171,046	H686Q	probably benign	Het
Trpc2	T	A	7: 102,094,573	F715L	probably benign	Het
Ube2t	T	A	1: 134,969,298	I56N	probably benign	Het
Ubr4	T	C	4: 139,480,652	Y4915H	possibly damaging	Het
Usp32	T	A	11: 85,040,004	E533D	probably damaging	Het
Vipr2	T	G	12: 116,122,810		probably null	Het
Vmn1r15	A	G	6: 57,258,284	T46A	probably benign	Het
Vmn1r203	T	G	13: 22,524,447	S133A	possibly damaging	Het
Vmn1r215	T	G	13: 23,076,208	N139K	probably damaging	Het
Vmn1r232	C	T	17: 20,913,339	R333H	probably benign	Het
Wdr20rt	C	A	12: 65,227,214	H311N	possibly damaging	Het
Zranb1	T	C	7: 132,966,696		probably null	Het

Other mutations in Nbn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:Nbn	APN	4	15964320	missense	probably benign	0.01
IGL00921:Nbn	APN	4	15963833	missense	possibly damaging	0.85
IGL01621:Nbn	APN	4	15965221	missense	probably benign	0.45
IGL02372:Nbn	APN	4	15986613	missense	probably benign	0.00
IGL03392:Nbn	APN	4	15962362	missense	probably damaging	1.00
nebish	UTSW	4	15965132	critical splice acceptor site	probably null
zenobia	UTSW	4	15969391	missense	probably damaging	1.00
R0238:Nbn	UTSW	4	15986672	splice site	probably benign
R0244:Nbn	UTSW	4	15979353	missense	probably benign	0.00
R0432:Nbn	UTSW	4	15983951	unclassified	probably benign
R0946:Nbn	UTSW	4	15970719	critical splice acceptor site	probably null
R1076:Nbn	UTSW	4	15970719	critical splice acceptor site	probably null
R1563:Nbn	UTSW	4	15981668	missense	possibly damaging	0.77
R1579:Nbn	UTSW	4	15964289	missense	probably damaging	0.99
R1660:Nbn	UTSW	4	15971771	missense	probably benign	0.06
R1663:Nbn	UTSW	4	15970903	missense	probably benign	0.13
R2005:Nbn	UTSW	4	15979351	missense	probably benign	0.01
R2077:Nbn	UTSW	4	15979389	missense	probably damaging	1.00
R2228:Nbn	UTSW	4	15970904	missense	probably benign	0.01
R2229:Nbn	UTSW	4	15970904	missense	probably benign	0.01
R2356:Nbn	UTSW	4	15970863	missense	probably damaging	0.96
R2869:Nbn	UTSW	4	15963810	missense	probably damaging	1.00
R2869:Nbn	UTSW	4	15963810	missense	probably damaging	1.00
R3508:Nbn	UTSW	4	15962387	missense	probably damaging	1.00
R3745:Nbn	UTSW	4	15976163	missense	possibly damaging	0.67
R3753:Nbn	UTSW	4	15964269	missense	probably damaging	0.98
R4756:Nbn	UTSW	4	15981470	missense	probably benign	0.00
R5042:Nbn	UTSW	4	15981446	missense	probably benign	0.10
R5177:Nbn	UTSW	4	15965132	critical splice acceptor site	probably null
R5229:Nbn	UTSW	4	15963893	missense	probably damaging	0.98
R5368:Nbn	UTSW	4	15969391	missense	probably damaging	1.00
R5431:Nbn	UTSW	4	15986593	missense	probably benign
R6025:Nbn	UTSW	4	15981347	missense	probably damaging	0.97
R6375:Nbn	UTSW	4	15979327	missense	probably benign
R6543:Nbn	UTSW	4	15986605	missense	probably benign	0.39
R6655:Nbn	UTSW	4	15981696	missense	probably damaging	0.98
R6965:Nbn	UTSW	4	15970863	missense	probably benign	0.25
R7090:Nbn	UTSW	4	15981350	missense	probably benign	0.06
R7159:Nbn	UTSW	4	15983677	splice site	probably null
R7241:Nbn	UTSW	4	15991190	missense	probably benign	0.00
R7267:Nbn	UTSW	4	15979320	missense	probably benign	0.00
R7597:Nbn	UTSW	4	15963911	missense	probably damaging	1.00
R7937:Nbn	UTSW	4	15958080	missense	probably damaging	0.99
R8110:Nbn	UTSW	4	15981588	missense	probably benign	0.02
R8317:Nbn	UTSW	4	15970893	missense	probably damaging	0.96
R8327:Nbn	UTSW	4	15981470	missense	probably benign	0.00
R8725:Nbn	UTSW	4	15963911	missense	probably damaging	1.00
R8727:Nbn	UTSW	4	15963911	missense	probably damaging	1.00
R8747:Nbn	UTSW	4	15981555	missense	probably damaging	0.96
R8909:Nbn	UTSW	4	15970833	missense	probably damaging	1.00
R8973:Nbn	UTSW	4	15986585	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGACTTAGATCATTGTGCTTGG -3'
(R):5'- ATCAGTGGGATGCTGTACCC -3'

Sequencing Primer
(F):5'- GCTTGGCTCAAGTAGTACTGAAACTC -3'
(R):5'- GGATGCTGTACCCGTCTCTG -3'

Posted On

2014-08-25