Mutagenetix > Incidental Mutations

Incidental Mutation 'R7090:Nbn'

550143

Institutional Source

Beutler Lab

Gene Symbol

Nbn

Ensembl Gene

ENSMUSG00000028224

Gene Name

nibrin

Synonyms

Nbs1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7090 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15957925-15992589 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15981350 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 481 (S481T)

Ref Sequence

ENSEMBL: ENSMUSP00000029879 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000029879
AA Change: S481T

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000029879
Gene: ENSMUSG00000028224
AA Change: S481T

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 benign
Transcript: ENSMUST00000149069
AA Change: S481T

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000120829
Gene: ENSMUSG00000028224
AA Change: S481T

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Calm3	A	T	7: 16,917,079	Y139*	probably null	Het
Ccdc27	T	C	4: 154,028,066	N584S	probably benign	Het
Cdh24	C	G	14: 54,639,507	G13A	probably damaging	Het
Chd8	T	C	14: 52,215,220	K1281E	probably damaging	Het
Clasp1	G	T	1: 118,482,086	G4C	probably benign	Het
Cul9	G	T	17: 46,500,839	P2488T	probably damaging	Het
Daam2	A	G	17: 49,482,945	V428A	probably damaging	Het
Dcaf8	A	G	1: 172,188,968	S441G	probably damaging	Het
Dchs2	A	G	3: 83,348,274	T2426A	probably benign	Het
Dpys	A	G	15: 39,826,883	V358A	probably damaging	Het
Efhd1	A	G	1: 87,289,497	D112G	probably damaging	Het
Exoc1	T	C	5: 76,566,953	S120P	unknown	Het
Fyco1	A	G	9: 123,797,719	L1309S	probably damaging	Het
Gm14403	A	G	2: 177,509,321	N111S	possibly damaging	Het
Gm5901	A	G	7: 105,377,348	T108A	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Itgb5	T	G	16: 33,885,094	D251E	probably damaging	Het
Kcnk15	T	C	2: 163,858,717	V292A	probably benign	Het
Kdm2a	A	T	19: 4,319,141	Y1149N	probably damaging	Het
Kdm3a	T	C	6: 71,595,545	T1011A	possibly damaging	Het
Krt35	A	T	11: 100,095,672		probably null	Het
Lipn	T	A	19: 34,071,780	D115E	possibly damaging	Het
Lpin3	T	G	2: 160,896,752	L208R	probably damaging	Het
Ltf	C	A	9: 111,025,980	Q354K	probably benign	Het
Marf1	C	A	16: 14,111,702	C1680F	possibly damaging	Het
Mtss1l	T	A	8: 110,730,024	V242E	probably damaging	Het
Myo7b	T	C	18: 31,998,712	Y477C	probably damaging	Het
Ncoa2	A	G	1: 13,186,838	Y146H	probably damaging	Het
Ntng1	A	T	3: 109,935,180	C92*	probably null	Het
Olfr1049	T	A	2: 86,255,076	N206Y	probably damaging	Het
Olfr1077-ps1	T	C	2: 86,526,127	I17V	probably benign	Het
Olfr133	G	A	17: 38,149,494	G302D	probably benign	Het
Olfr286	C	T	15: 98,227,202	V150I	probably benign	Het
Os9	A	T	10: 127,099,678	S308T	probably benign	Het
Otx2	T	A	14: 48,658,735	T289S	probably benign	Het
Palm2	C	T	4: 57,648,042	A60V	probably benign	Het
Pigg	A	G	5: 108,336,512	T675A	possibly damaging	Het
Pink1	C	T	4: 138,315,601	E461K	probably damaging	Het
Pip5k1a	A	G	3: 95,060,498	S543P	possibly damaging	Het
Prkaa1	A	G	15: 5,177,130	T454A	probably benign	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Rab31	C	T	17: 65,698,017	V83I	possibly damaging	Het
Rabggtb	G	T	3: 153,910,349	D117E	probably benign	Het
Rbl1	T	C	2: 157,152,900	H951R	probably benign	Het
Sapcd2	A	G	2: 25,376,079	S314G	probably benign	Het
Sept4	T	C	11: 87,584,438	L164P	probably damaging	Het
Shroom1	A	G	11: 53,465,933	E541G	probably damaging	Het
Slc26a7	C	A	4: 14,565,460	G208*	probably null	Het
Smco2	A	G	6: 146,871,213	I304M	probably damaging	Het
Spg7	T	C	8: 123,091,752		probably null	Het
Spocd1	T	C	4: 129,953,898	F552L		Het
St6galnac2	T	C	11: 116,677,635	D334G	probably damaging	Het
Sub1	A	G	15: 11,986,486	S92P	probably benign	Het
Syne2	T	C	12: 75,942,351	F1829L	probably benign	Het
Tdrd1	T	C	19: 56,851,401	V631A	probably benign	Het
Tdrd9	T	C	12: 111,992,470	S113P	probably benign	Het
Tgfbrap1	A	C	1: 43,071,565	V260G	probably damaging	Het
Tyw3	G	C	3: 154,593,789	S94R	probably benign	Het
Urb2	T	C	8: 124,030,599	V1015A	probably benign	Het
Usp5	A	G	6: 124,829,394	M1T	probably null	Het
Utrn	T	C	10: 12,684,516	D1343G	possibly damaging	Het
Vmn2r56	T	C	7: 12,715,327	Y328C	probably damaging	Het
Vmn2r99	A	T	17: 19,393,710	E564V	possibly damaging	Het
Wdr63	C	A	3: 146,040,827	K881N	possibly damaging	Het
Zc3h8	T	C	2: 128,935,321	T133A	possibly damaging	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
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
R2010:Nbn	UTSW	4	15969393	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGCACTGGGAAGGTTGATTTTC -3'
(R):5'- ACTTGAACTGCCAACTCTGG -3'

Sequencing Primer
(F):5'- GGAAGGTTGATTTTCAGTAATATTGC -3'
(R):5'- GTACTCCTCAGTAACTCTTCCAAGAC -3'

Posted On

2019-05-15