Mutagenetix > Incidental Mutation

Incidental Mutation 'R4756:Nbn'

357996

Institutional Source

Beutler Lab

Gene Symbol

Nbn

Ensembl Gene

ENSMUSG00000028224

Gene Name

nibrin

Synonyms

Nbs1

MMRRC Submission

041972-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4756 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15957925-15992589 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15981470 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 521 (S521T)

Ref Sequence

ENSEMBL: ENSMUSP00000120829 (fasta)

Gene Model

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

AlphaFold

Q9R207

Predicted Effect

probably benign
Transcript: ENSMUST00000029879
AA Change: S521T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000029879
Gene: ENSMUSG00000028224
AA Change: S521T

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: S521T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000120829
Gene: ENSMUSG00000028224
AA Change: S521T

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,264,028	L122H	probably damaging	Het
4930550C14Rik	A	T	9: 53,425,530	M45L	probably benign	Het
Acss2	T	C	2: 155,561,143	F627L	probably damaging	Het
Akap8	A	G	17: 32,316,210	S277P	probably damaging	Het
Akap9	T	A	5: 4,001,418	M1395K	probably damaging	Het
Ank1	A	G	8: 23,122,877	D1468G	probably benign	Het
Apoe	A	G	7: 19,696,921	V121A	probably benign	Het
Aqp9	A	T	9: 71,163,049	L12H	probably damaging	Het
Atp2b4	G	A	1: 133,711,791	A1115V	probably benign	Het
Atp2b4	G	A	1: 133,739,396	P139L	probably benign	Het
B430218F22Rik	T	C	13: 118,387,444		probably benign	Het
Brsk1	A	G	7: 4,708,867	E572G	possibly damaging	Het
C130060K24Rik	T	C	6: 65,452,914	I198T	probably benign	Het
C6	T	C	15: 4,781,912	I414T	probably benign	Het
C8b	T	A	4: 104,786,886	M250K	probably benign	Het
Camk1g	T	A	1: 193,362,085	E7V	probably benign	Het
Clcc1	A	G	3: 108,672,920		probably null	Het
Col4a3	G	T	1: 82,716,297		probably null	Het
Cox5b	T	A	1: 36,693,229	W104R	probably damaging	Het
Cyp2c55	A	C	19: 39,031,371	H251P	probably damaging	Het
Cyp2c67	G	A	19: 39,643,744	T60I	probably benign	Het
Defb42	T	A	14: 63,048,375	V68E	probably benign	Het
Ercc4	T	A	16: 13,123,423	I225N	probably damaging	Het
Fam120b	G	T	17: 15,402,396	C212F	probably damaging	Het
Fgf10	T	C	13: 118,781,509	V111A	probably benign	Het
Fn1	G	T	1: 71,590,808	T2186K	probably damaging	Het
Fras1	T	C	5: 96,781,659	V3974A	probably benign	Het
Galnt4	T	C	10: 99,108,500	V29A	probably benign	Het
Gpr26	T	C	7: 131,967,501	Y192H	probably damaging	Het
Heatr9	A	T	11: 83,516,649	L236Q	probably damaging	Het
Hivep3	C	A	4: 120,097,823	P1112H	probably damaging	Het
Hnf4g	A	G	3: 3,643,009	Y106C	possibly damaging	Het
Hnrnpdl	A	T	5: 100,037,924	Y69*	probably null	Het
Itgb1	G	A	8: 128,717,222	A320T	probably damaging	Het
Kcna2	T	C	3: 107,105,417	I438T	probably benign	Het
Kif24	A	G	4: 41,397,545		probably null	Het
Klhl1	G	A	14: 96,151,966	T584I	probably benign	Het
Ltbp1	A	G	17: 75,225,204	D91G	probably damaging	Het
Mdga2	T	C	12: 66,797,653	I190M	probably damaging	Het
Meis2	G	A	2: 116,000,205	R276C	probably damaging	Het
Mob4	C	T	1: 55,152,696	R190W	probably damaging	Het
Mrgpra2a	A	G	7: 47,427,366	I48T	possibly damaging	Het
Mst1	T	C	9: 108,083,627	V481A	probably benign	Het
Mttp	A	T	3: 138,116,071	V245E	possibly damaging	Het
Neb	G	T	2: 52,193,231	T5654N	probably damaging	Het
Nlrp9a	A	T	7: 26,557,441	K161N	probably damaging	Het
Nod2	T	G	8: 88,664,274	F388C	possibly damaging	Het
Olfr1248	G	T	2: 89,617,470	H241N	possibly damaging	Het
Olfr1311	A	G	2: 112,020,987	F289S	possibly damaging	Het
Olfr1354	T	A	10: 78,917,527	I229N	probably damaging	Het
Olfr410	G	T	11: 74,334,576	F218L	probably benign	Het
Olfr589	A	T	7: 103,155,125	N207K	probably benign	Het
Olfr843	G	A	9: 19,248,857	L181F	possibly damaging	Het
P2ry1	A	G	3: 61,004,477	S346G	probably benign	Het
Prkcd	A	G	14: 30,599,666	F524L	probably benign	Het
Ramp3	A	T	11: 6,674,843	M46L	probably benign	Het
Rint1	T	C	5: 23,809,793	Y278H	probably damaging	Het
Skint11	C	T	4: 114,194,677	T74I	probably benign	Het
Slc10a7	T	C	8: 78,706,950		probably null	Het
Slc45a2	T	A	15: 11,027,930	Y528*	probably null	Het
Slit1	A	G	19: 41,649,013	F329L	probably damaging	Het
Sltm	A	T	9: 70,591,610	M989L	possibly damaging	Het
Smad9	A	T	3: 54,794,453	T372S	possibly damaging	Het
Snrpc	T	A	17: 27,842,332	Y38*	probably null	Het
Spag17	A	G	3: 100,103,385	K2065R	possibly damaging	Het
Stxbp4	T	A	11: 90,607,371	K87N	probably damaging	Het
Tbc1d23	AT	ATT	16: 57,198,895		probably null	Het
Tgfb1i1	A	T	7: 128,249,399	M96L	probably damaging	Het
Tnc	T	A	4: 63,967,343	I1841F	probably damaging	Het
Twistnb	T	A	12: 33,437,680		probably null	Het
Ubap2	G	T	4: 41,211,771	H63Q	probably damaging	Het
Vps13a	T	C	19: 16,655,216	N2592S	probably benign	Het
Xdh	G	A	17: 73,886,386	P1305L	probably benign	Het
Xrn1	G	A	9: 96,039,809	R1425K	probably benign	Het
Zfp418	G	A	7: 7,182,763	R575Q	possibly damaging	Het
Zfp608	T	A	18: 54,894,472	Q1424H	probably damaging	Het
Zfp839	C	A	12: 110,855,201	L150I	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
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
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
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'- ATGAGTTTCCTGGCCTGAGTAG -3'
(R):5'- ACTTGAACTGCCAACTCTGG -3'

Sequencing Primer
(F):5'- TTCCTTTTCAAACCTAAGGGAAAGGG -3'
(R):5'- TGGCTTTGTACTCCTCAGTAAC -3'

Posted On

2015-11-11