Mutagenetix > Incidental Mutation

Incidental Mutation 'R2228:Nbn'

239834

Institutional Source

Beutler Lab

Gene Symbol

Nbn

Ensembl Gene

ENSMUSG00000028224

Gene Name

nibrin

Synonyms

Nbs1

MMRRC Submission

040229-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2228 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15957925-15992589 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15970904 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 296 (T296A)

Ref Sequence

ENSEMBL: ENSMUSP00000029879 (fasta)

Gene Model

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

AlphaFold

Q9R207

Predicted Effect

probably benign
Transcript: ENSMUST00000029879
AA Change: T296A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000029879
Gene: ENSMUSG00000028224
AA Change: T296A

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 benign
Transcript: ENSMUST00000149069
AA Change: T296A

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

SMART Domains

Protein: ENSMUSP00000120829
Gene: ENSMUSG00000028224
AA Change: T296A

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,729,591	T242A	probably benign	Het
Adam24	A	T	8: 40,680,365	I291L	probably benign	Het
Adamts16	G	A	13: 70,779,518		probably benign	Het
Adcy8	C	A	15: 64,822,207	R407L	possibly damaging	Het
Aldh3b2	C	T	19: 3,981,133	P461S	probably benign	Het
Araf	T	C	X: 20,851,673	F144L	probably benign	Het
Atp11b	G	T	3: 35,806,942	D193Y	probably damaging	Het
Atp6v1b2	C	A	8: 69,102,759		probably null	Het
Bclaf1	T	A	10: 20,339,878		probably benign	Het
Cadps	A	G	14: 12,465,935	Y987H	probably benign	Het
Capn6	T	G	X: 143,804,789	T498P	possibly damaging	Het
Ccdc153	T	A	9: 44,243,017	L47Q	probably damaging	Het
Ccdc180	G	T	4: 45,948,856		probably null	Het
Cep162	G	T	9: 87,244,331	T176K	probably benign	Het
Cpsf2	A	G	12: 101,989,829	D297G	probably benign	Het
Entpd8	T	C	2: 25,085,016	M453T	probably damaging	Het
Eprs	T	A	1: 185,367,537	L18Q	probably damaging	Het
Fem1b	G	T	9: 62,796,738	C413*	probably null	Het
Flrt1	T	A	19: 7,095,358	D608V	probably damaging	Het
Fstl5	C	A	3: 76,482,352	N285K	probably damaging	Het
Golga1	T	C	2: 39,023,171	D543G	probably benign	Het
H2afy	C	T	13: 56,084,262	G235S	probably damaging	Het
Hivep2	A	G	10: 14,128,363	H235R	probably damaging	Het
Htr2c	G	C	X: 147,194,190	W325C	probably damaging	Het
Htr2c	G	T	X: 147,194,192	C326F	probably damaging	Het
Ifit1bl2	G	T	19: 34,619,230	L329M	possibly damaging	Het
Igsf9b	T	C	9: 27,333,496	S920P	probably damaging	Het
Mcm8	T	A	2: 132,820,121	I125K	possibly damaging	Het
Micall1	C	T	15: 79,129,836	R644W	probably damaging	Het
Myo16	G	A	8: 10,594,905	D1746N	possibly damaging	Het
Myo9a	A	G	9: 59,894,180	E1887G	probably benign	Het
Nckap1l	T	C	15: 103,455,934		probably null	Het
Neb	T	C	2: 52,232,995	R3734G	probably benign	Het
Nup93	C	T	8: 94,304,191	T305I	probably benign	Het
Olfr1350	A	T	7: 6,570,803	M271L	probably benign	Het
P2ry4	A	G	X: 100,593,947	L115P	probably damaging	Het
Pmepa1	G	A	2: 173,228,133	R210W	probably damaging	Het
Ppp1r26	T	C	2: 28,453,786	F1143L	possibly damaging	Het
Ppp1r3c	C	A	19: 36,733,698	R224L	probably benign	Het
Ptafr	T	G	4: 132,579,380	I27R	possibly damaging	Het
Pwwp2b	T	C	7: 139,255,188	C182R	probably damaging	Het
Reln	A	G	5: 21,987,078	F1455L	possibly damaging	Het
Rufy1	C	T	11: 50,397,784		probably null	Het
Samd9l	T	C	6: 3,376,910	H117R	probably benign	Het
Sfxn4	C	T	19: 60,851,020	G200E	probably damaging	Het
Sipa1l3	T	A	7: 29,377,939	K803*	probably null	Het
Smim23	C	A	11: 32,821,870	Q65H	probably damaging	Het
Spata18	A	T	5: 73,666,901	I156L	possibly damaging	Het
Sppl2b	G	A	10: 80,865,617	V389M	probably damaging	Het
Srbd1	T	C	17: 85,985,223	I973V	probably damaging	Het
Ssx2ip	C	T	3: 146,417,776	P10L	probably damaging	Het
Taf2	A	C	15: 55,064,646	D120E	possibly damaging	Het
Tanc1	T	C	2: 59,724,724	L42S	probably benign	Het
Tex15	C	A	8: 33,571,237	H232N	probably benign	Het
Tg	A	T	15: 66,674,011	Q194L	probably damaging	Het
Tnfrsf22	C	T	7: 143,644,776		probably null	Het
Tro	A	T	X: 150,655,481	M60K	probably benign	Het
Ttc38	G	A	15: 85,844,503	V219I	probably benign	Het
U2af2	T	C	7: 5,075,673	I417T	probably damaging	Het
Ube2r2	C	T	4: 41,174,044	H61Y	probably benign	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Vmn1r113	C	T	7: 20,787,907	S208F	probably damaging	Het
Wdr35	A	G	12: 8,974,955	K16E	possibly damaging	Het
Wwp1	A	T	4: 19,641,745	Y437N	probably damaging	Het
Zdhhc4	A	C	5: 143,320,407	W189G	probably damaging	Het
Zfp512	A	T	5: 31,465,575	K73N	probably 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
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'- GAAACTCAGCTCGGCAGTTG -3'
(R):5'- AGTCATGAAGGGCAAGCTTTTC -3'

Sequencing Primer
(F):5'- CAGCTCGGCAGTTGCTTTCG -3'
(R):5'- TCTGTGAATTGCAGGACAACC -3'

Posted On

2014-10-15