Mutagenetix > Incidental Mutations

Incidental Mutation 'R8317:Nbn'

641732

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 #

R8317 (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 G at 15970893 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Tryptophan at position 292 (L292W)

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: L292W

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000029879
Gene: ENSMUSG00000028224
AA Change: L292W

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: L292W

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120829
Gene: ENSMUSG00000028224
AA Change: L292W

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: 99.7%
20x: 99.0%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	A	C	5: 98,737,600	H122P	probably benign	Het
1700029P11Rik	A	G	15: 81,980,777	Y73C	probably damaging	Het
Adgrv1	C	T	13: 81,575,117	V621M	probably damaging	Het
Adipor1	C	T	1: 134,428,167	R235W	probably benign	Het
Agbl1	T	A	7: 76,422,181	M594K	unknown	Het
Als2cr12	T	C	1: 58,676,548	K170E	possibly damaging	Het
Ang2	A	G	14: 51,195,892	V11A	probably benign	Het
BC027072	A	C	17: 71,749,202	L1160R	probably benign	Het
Ccl25	A	G	8: 4,354,138	N80S	probably benign	Het
Cd19	A	T	7: 126,413,443	C259*	probably null	Het
Cd209b	A	T	8: 3,922,018	I177N	probably damaging	Het
Cdc20	C	A	4: 118,437,126		probably benign	Het
Cdh23	A	T	10: 60,311,258		probably null	Het
Cdh23	G	A	10: 60,436,789	R536W	probably damaging	Het
Chd6	T	C	2: 160,990,321	D977G	probably damaging	Het
Csl	T	G	10: 99,759,038	H55P	probably damaging	Het
Cstf2t	G	A	19: 31,084,248	A395T	probably benign	Het
Dhx58	A	T	11: 100,703,562	I101N	probably damaging	Het
Dlg5	A	C	14: 24,191,230	S200A	probably damaging	Het
Epb41	C	A	4: 131,957,650	G86V		Het
Fat4	T	C	3: 38,958,510	V2318A	possibly damaging	Het
Fbxo32	A	T	15: 58,205,230	F119I	probably damaging	Het
Fndc1	A	T	17: 7,800,888	L153*	probably null	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,075,905		probably benign	Het
Gm4559	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	7: 142,273,816		probably benign	Het
Gpr63	A	T	4: 25,008,223	T316S	probably damaging	Het
Ick	T	A	9: 78,153,651	V193E	probably damaging	Het
Il16	T	C	7: 83,655,330	T665A	probably benign	Het
Lama5	T	C	2: 180,206,991	N272S	probably damaging	Het
Map3k1	T	C	13: 111,758,162	Y660C	probably damaging	Het
Mbd3l1	C	A	9: 18,484,821	L81I	probably benign	Het
Morc3	C	A	16: 93,862,529	Q442K	probably benign	Het
Muc16	G	A	9: 18,658,043	T1060I	unknown	Het
Myh11	T	A	16: 14,208,077	D1343V		Het
Myh15	C	A	16: 49,120,018	T777N	probably damaging	Het
Nebl	A	G	2: 17,350,757	M195T	possibly damaging	Het
Net1	T	C	13: 3,907,856	K66E	possibly damaging	Het
Nod1	T	C	6: 54,943,440	Y631C	probably damaging	Het
Nxf1	A	G	19: 8,771,043	H12R	probably benign	Het
Onecut3	T	C	10: 80,495,327	L107P	unknown	Het
Opa1	T	G	16: 29,614,144	I512S	probably damaging	Het
P3h3	C	T	6: 124,855,153	G257R	probably damaging	Het
Pappa2	A	G	1: 158,764,960	C1616R	probably damaging	Het
Parn	T	G	16: 13,541,100	K593Q	probably damaging	Het
Polr3g	T	C	13: 81,678,183	K173R	unknown	Het
Prcp	A	G	7: 92,875,390	T18A	probably benign	Het
Sash1	G	A	10: 8,729,386	T1080M	possibly damaging	Het
Skap2	A	G	6: 51,907,885		probably null	Het
Srebf1	C	A	11: 60,200,657	S1014I	possibly damaging	Het
Stk32b	C	T	5: 37,454,975	E356K	probably damaging	Het
Tex37	C	A	6: 70,913,292	W172L	possibly damaging	Het
Tjp3	T	A	10: 81,280,490	T257S	probably benign	Het
Trf	A	G	9: 103,217,516	Y448H	probably damaging	Het
Tsnaxip1	G	C	8: 105,827,806	R7P	probably benign	Het
Vmn1r208	G	C	13: 22,772,777	I183M	probably benign	Het
Vmn2r67	T	A	7: 85,136,626	M724L	probably benign	Het
Wdhd1	A	T	14: 47,263,537	H469Q	probably damaging	Het
Zbtb7a	G	C	10: 81,144,950	G326A	probably benign	Het
Zfp493	G	A	13: 67,783,839	R19H	probably benign	Het
Zfp932	A	T	5: 110,009,056	K207*	probably null	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
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'- CAAGAAACTCAGCTCGGCAG -3'
(R):5'- AGTCATGAAGGGCAAGCTTTTC -3'

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

Posted On

2020-07-28