Mutagenetix > Incidental Mutations

Incidental Mutation 'R8727:Nbn'

662485

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 #

R8727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15957925-15992589 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 15963911 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 104 (S104N)

Ref Sequence

ENSEMBL: ENSMUSP00000029879 (fasta)

Gene Model

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

AlphaFold

Q9R207

Predicted Effect

probably damaging
Transcript: ENSMUST00000029879
AA Change: S104N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029879
Gene: ENSMUSG00000028224
AA Change: S104N

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 damaging
Transcript: ENSMUST00000149069
AA Change: S104N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120829
Gene: ENSMUSG00000028224
AA Change: S104N

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: 99.1%
20x: 96.2%

Validation Efficiency

100% (80/80)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	G	7: 131,273,756	T1770A	unknown	Het
A630089N07Rik	C	T	16: 98,066,451	A104T	probably damaging	Het
Abhd18	T	A	3: 40,930,192	L222Q	probably damaging	Het
Adam30	C	T	3: 98,163,032	T727M	possibly damaging	Het
Adh6b	A	T	3: 138,352,968	Q137L	probably damaging	Het
Alpl	C	T	4: 137,747,816	V269I	probably benign	Het
Ang2	C	T	14: 51,195,539	G129S	probably benign	Het
Atp6v0a1	A	T	11: 101,029,189	H216L	possibly damaging	Het
BC030500	C	T	8: 58,913,015	T61I	unknown	Het
Brpf1	T	G	6: 113,316,530	L520R	probably damaging	Het
Btbd10	A	G	7: 113,328,419	I243T	possibly damaging	Het
Bub1	C	A	2: 127,804,219	C947F	probably damaging	Het
C4b	T	C	17: 34,734,485	E1008G	probably damaging	Het
Ccdc40	A	G	11: 119,264,497	T1188A	probably benign	Het
Cnn1	G	T	9: 22,099,261		probably benign	Het
Colgalt2	T	C	1: 152,484,911	M233T	probably damaging	Het
Cox15	A	T	19: 43,746,742	C195*	probably null	Het
Cped1	A	T	6: 22,059,942	R202S	possibly damaging	Het
Dact2	A	T	17: 14,196,884	C351*	probably null	Het
Dbnl	A	G	11: 5,788,582	N8S	probably benign	Het
Depdc1a	T	A	3: 159,522,719	N369K	probably benign	Het
Dnah2	A	T	11: 69,524,179	L243Q	probably damaging	Het
Dscaml1	T	A	9: 45,430,461	Y57N	probably benign	Het
Eif2b3	A	G	4: 117,070,747	T388A	probably benign	Het
Eif4h	A	C	5: 134,625,539		probably null	Het
Elf1	C	T	14: 79,573,227	Q288*	probably null	Het
Fbxl5	A	T	5: 43,751,020		probably benign	Het
Fgl2	C	T	5: 21,375,679	R340*	probably null	Het
Fut4	T	C	9: 14,750,786	D404G	probably damaging	Het
Glmn	G	A	5: 107,570,286	P255L	probably benign	Het
Gm14322	C	T	2: 177,769,688	T97I	probably benign	Het
Gm44511	C	A	6: 128,821,034	C32F	probably damaging	Het
Gm5478	A	G	15: 101,645,436	F247S	probably damaging	Het
Gm7534	T	C	4: 134,202,839	K52E	probably benign	Het
Golgb1	T	A	16: 36,919,201	M2675K	probably damaging	Het
Hectd1	T	C	12: 51,802,217	D368G	possibly damaging	Het
Hnrnpul2	A	G	19: 8,820,700	N140S	probably benign	Het
Htr4	A	T	18: 62,428,138	I157L	probably damaging	Het
Igf2bp3	G	T	6: 49,109,075		probably benign	Het
Kcnma1	T	G	14: 23,386,264	M790L	probably benign	Het
Kcnv1	G	A	15: 45,114,603	S13L	unknown	Het
Kctd20	C	T	17: 28,965,051	R312*	probably null	Het
Kdm3b	T	A	18: 34,827,382	I1340N	probably damaging	Het
Kdm6b	A	G	11: 69,402,093	F1286L	unknown	Het
Knl1	T	A	2: 119,069,043	F408L	probably benign	Het
Lypd5	G	T	7: 24,353,676	G253W	probably damaging	Het
Mea1	A	G	17: 46,681,688	T21A	probably benign	Het
Metrnl	A	G	11: 121,716,016	E299G	possibly damaging	Het
Mindy4	T	A	6: 55,279,070		probably benign	Het
Muc5ac	C	T	7: 141,809,744		probably benign	Het
Nxpe2	A	T	9: 48,326,773	F61I	probably benign	Het
Olfr786	T	C	10: 129,437,465	Y218H	probably benign	Het
Olfr814	T	A	10: 129,874,223	D178V	probably damaging	Het
Pcdhb20	C	T	18: 37,505,384	A321V	probably damaging	Het
Pgr	C	A	9: 8,901,543	P359Q	probably damaging	Het
Pi4k2b	G	A	5: 52,750,689	V157I	probably benign	Het
Piezo2	C	T	18: 63,109,885	S621N	probably benign	Het
Plekhm1	A	C	11: 103,367,618	F1031L	probably damaging	Het
Pltp	A	G	2: 164,854,381	S124P	probably damaging	Het
Polr3gl	T	A	3: 96,579,838	E177V	probably benign	Het
Pstk	G	T	7: 131,371,295	R41L	possibly damaging	Het
Ptprk	C	A	10: 28,566,545		probably benign	Het
Rasgrp1	T	C	2: 117,288,677	E493G	probably benign	Het
Rtn3	A	G	19: 7,457,361	L422P	probably benign	Het
Rusc2	C	T	4: 43,401,351		probably benign	Het
Sbno2	A	G	10: 80,075,256	F6S	probably benign	Het
Sh2d4a	A	G	8: 68,346,043	Y348C	probably damaging	Het
Sh3rf3	A	G	10: 59,104,170		probably null	Het
Sipa1l2	T	C	8: 125,450,386	E1163G	probably benign	Het
Strip1	G	C	3: 107,614,648	A738G	probably damaging	Het
Tdrkh	C	T	3: 94,425,992	R255C	probably benign	Het
Tex11	C	T	X: 101,015,585	V190I	possibly damaging	Het
Tln1	A	T	4: 43,555,911	M101K	possibly damaging	Het
Trav6-2	A	C	14: 52,667,571		probably benign	Het
Tspan11	A	T	6: 127,923,711	I82F	possibly damaging	Het
Ttn	T	C	2: 76,948,976	K1233E	unknown	Het
U2af2	T	A	7: 5,067,433		probably benign	Het
Usp29	A	T	7: 6,962,918	S587C	probably damaging	Het
Vmn1r235	A	T	17: 21,261,794	Q127L	probably damaging	Het
Vmn1r65	C	A	7: 6,008,504	A244S	probably damaging	Het
Vmn2r18	A	G	5: 151,584,997	S221P	probably damaging	Het
Zfp229	T	C	17: 21,745,847	S353P	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
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
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'- GTTCCCACTTCCCCAGAAAGTTAG -3'
(R):5'- GACAATGTAACCAATGAGGACC -3'

Sequencing Primer
(F):5'- AGTAACTTGTGAGATCTACCCTG -3'
(R):5'- CCAAACAAGCTGAGTTCCCTGTTAC -3'

Posted On

2021-03-08