Mutagenetix > Incidental Mutation

Incidental Mutation 'R7267:Nbn'

564981

Institutional Source

Beutler Lab

Gene Symbol

Nbn

Ensembl Gene

ENSMUSG00000028224

Gene Name

nibrin

Synonyms

Nbs1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7267 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15957925-15992589 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15979320 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 435 (M435K)

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: M435K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029879
Gene: ENSMUSG00000028224
AA Change: M435K

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: M435K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000120829
Gene: ENSMUSG00000028224
AA Change: M435K

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	G	12: 118,952,470	I37T	probably damaging	Het
Ackr2	A	G	9: 121,908,808	Y83C	probably damaging	Het
Adam19	C	T	11: 46,121,576	Q300*	probably null	Het
Anxa7	C	T	14: 20,469,406	A115T	probably benign	Het
Atad2b	A	T	12: 5,027,105	R1109*	probably null	Het
Batf2	A	G	19: 6,171,366	T69A	probably benign	Het
Best1	A	G	19: 9,986,813	C428R	probably benign	Het
Birc6	A	G	17: 74,585,985	T973A	probably benign	Het
Bmp2k	C	T	5: 97,068,434	T597I	unknown	Het
Bmpr1a	G	A	14: 34,443,879	P57L	possibly damaging	Het
Camk2d	A	T	3: 126,797,730	H283L	possibly damaging	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Ces1b	C	A	8: 93,079,504	K36N	possibly damaging	Het
Ces2a	T	A	8: 104,739,040	M308K	probably benign	Het
Ctnnd2	C	A	15: 30,683,355	Q501K	probably benign	Het
Cyb561d1	T	C	3: 108,199,313	T197A	probably benign	Het
Dedd2	C	A	7: 25,218,966	A55S	probably damaging	Het
Dnah2	C	T	11: 69,500,817	R684Q	probably damaging	Het
Elovl3	A	G	19: 46,134,540	Y185C	probably damaging	Het
Fgf3	C	T	7: 144,838,832	A42V	probably damaging	Het
Gabra5	A	G	7: 57,490,781	L56P	probably damaging	Het
Gm19410	T	G	8: 35,814,843	V1860G	possibly damaging	Het
Gm21663	G	T	5: 25,938,753	N190K	probably damaging	Het
Grm3	T	A	5: 9,589,581	I155L	probably benign	Het
Hadha	A	G	5: 30,122,757	I495T	probably damaging	Het
Herc4	C	T	10: 63,273,586	A200V	possibly damaging	Het
Itga3	C	A	11: 95,076,362		probably benign	Het
Krt6a	C	T	15: 101,693,854	S132N	probably benign	Het
Lpar1	T	C	4: 58,486,857	N138S	possibly damaging	Het
Lrrc42	T	A	4: 107,239,786	T247S	probably damaging	Het
Man2b1	T	A	8: 85,087,175	V256E	probably damaging	Het
Map3k4	G	T	17: 12,271,649	Y298*	probably null	Het
Mars	A	G	10: 127,308,586	V195A	probably benign	Het
Mdm4	A	T	1: 132,994,573	V278E	probably benign	Het
Mdp1	A	G	14: 55,660,087	V37A	probably damaging	Het
Med13	A	G	11: 86,308,826	I685T	probably benign	Het
Mobp	A	G	9: 120,167,848	N15S	probably damaging	Het
Nfs1	A	G	2: 156,123,783	V126A	probably benign	Het
Npepl1	T	A	2: 174,122,116	V480E	probably damaging	Het
Nr2e3	G	A	9: 59,948,689	S155F	possibly damaging	Het
Olfr1232	A	T	2: 89,325,813	Y122*	probably null	Het
Olfr638	A	G	7: 104,003,839	H188R	probably benign	Het
Oplah	T	C	15: 76,305,009	D278G	probably benign	Het
Pard3	T	C	8: 127,371,575	Y366H	probably damaging	Het
Pcdhb11	A	G	18: 37,421,953	N112S	possibly damaging	Het
Pde11a	A	G	2: 76,337,845	S255P	probably damaging	Het
Piezo1	T	C	8: 122,497,529	H745R		Het
Pkn2	A	T	3: 142,812,015	S441T	possibly damaging	Het
Pld1	A	C	3: 28,076,401	H450P	probably damaging	Het
Plekhs1	T	A	19: 56,470,777	H22Q	probably damaging	Het
Prss44	A	C	9: 110,816,543	Y285S	probably damaging	Het
Qpctl	T	C	7: 19,144,927	E249G	probably benign	Het
Rcsd1	A	T	1: 165,663,616	S50T	probably damaging	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Scube1	T	A	15: 83,621,065	N496Y	probably damaging	Het
Slc16a8	AGGCC	A	15: 79,251,925		probably null	Het
Slc38a4	T	A	15: 97,005,900	T407S	probably benign	Het
Slc51a	T	G	16: 32,479,772	I56L	probably benign	Het
Slc6a18	T	G	13: 73,671,636	I272L	probably damaging	Het
Sorl1	A	G	9: 42,124,079	L12P	possibly damaging	Het
Svs1	AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC	AGGCCCAGCC	6: 48,988,018		probably benign	Het
Sycp2l	A	T	13: 41,146,594	D428V	possibly damaging	Het
Syne1	C	T	10: 5,228,218	R4752Q	probably damaging	Het
Tbc1d9	C	A	8: 83,271,328	H1171Q	probably damaging	Het
Thsd1	G	A	8: 22,243,581	V215I	probably benign	Het
Tmem143	T	A	7: 45,908,174	M208K	probably benign	Het
Tmem63b	C	T	17: 45,666,122	V440I	probably benign	Het
Tnik	A	T	3: 28,646,627	S918C	probably damaging	Het
Ttc37	A	G	13: 76,180,077	M1415V	probably benign	Het
Ttn	A	G	2: 76,903,407	I4508T	unknown	Het
Vav2	A	G	2: 27,283,322	F497L	probably damaging	Het
Zc3h14	G	A	12: 98,785,729	R730Q	probably damaging	Het
Zfp560	G	A	9: 20,348,088	H493Y	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
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
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'- ACGTTGCACTAGTTGTTTGCC -3'
(R):5'- CTGTTTATTTTCCAACAAAACAGGC -3'

Sequencing Primer
(F):5'- AGTATGCCTTTGAGTGAAAGACC -3'
(R):5'- AACAGGCTAAATACAATACTGCTC -3'

Posted On

2019-06-26