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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4756 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15957925-15992589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15981470 bp (GRCm39)

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
4930550C14Rik	A	T	9: 53,336,830 (GRCm39)	M45L	probably benign	Het
Acss2	T	C	2: 155,403,063 (GRCm39)	F627L	probably damaging	Het
Akap8	A	G	17: 32,535,184 (GRCm39)	S277P	probably damaging	Het
Akap9	T	A	5: 4,051,418 (GRCm39)	M1395K	probably damaging	Het
Ank1	A	G	8: 23,612,893 (GRCm39)	D1468G	probably benign	Het
Apoe	A	G	7: 19,430,846 (GRCm39)	V121A	probably benign	Het
Aqp9	A	T	9: 71,070,331 (GRCm39)	L12H	probably damaging	Het
Atp2b4	G	A	1: 133,639,529 (GRCm39)	A1115V	probably benign	Het
Atp2b4	G	A	1: 133,667,134 (GRCm39)	P139L	probably benign	Het
B430218F22Rik	T	C	13: 118,523,980 (GRCm39)		probably benign	Het
Bltp2	T	A	11: 78,154,854 (GRCm39)	L122H	probably damaging	Het
Brsk1	A	G	7: 4,711,866 (GRCm39)	E572G	possibly damaging	Het
C6	T	C	15: 4,811,394 (GRCm39)	I414T	probably benign	Het
C8b	T	A	4: 104,644,083 (GRCm39)	M250K	probably benign	Het
Camk1g	T	A	1: 193,044,393 (GRCm39)	E7V	probably benign	Het
Clcc1	A	G	3: 108,580,236 (GRCm39)		probably null	Het
Col4a3	G	T	1: 82,694,018 (GRCm39)		probably null	Het
Cox5b	T	A	1: 36,732,310 (GRCm39)	W104R	probably damaging	Het
Cyp2c55	A	C	19: 39,019,815 (GRCm39)	H251P	probably damaging	Het
Cyp2c67	G	A	19: 39,632,188 (GRCm39)	T60I	probably benign	Het
Defb42	T	A	14: 63,285,824 (GRCm39)	V68E	probably benign	Het
Ercc4	T	A	16: 12,941,287 (GRCm39)	I225N	probably damaging	Het
Fam120b	G	T	17: 15,622,658 (GRCm39)	C212F	probably damaging	Het
Fgf10	T	C	13: 118,918,045 (GRCm39)	V111A	probably benign	Het
Fn1	G	T	1: 71,629,967 (GRCm39)	T2186K	probably damaging	Het
Fras1	T	C	5: 96,929,518 (GRCm39)	V3974A	probably benign	Het
Galnt4	T	C	10: 98,944,362 (GRCm39)	V29A	probably benign	Het
Gpr26	T	C	7: 131,569,230 (GRCm39)	Y192H	probably damaging	Het
Heatr9	A	T	11: 83,407,475 (GRCm39)	L236Q	probably damaging	Het
Hivep3	C	A	4: 119,955,020 (GRCm39)	P1112H	probably damaging	Het
Hnf4g	A	G	3: 3,708,069 (GRCm39)	Y106C	possibly damaging	Het
Hnrnpdl	A	T	5: 100,185,783 (GRCm39)	Y69*	probably null	Het
Itgb1	G	A	8: 129,443,703 (GRCm39)	A320T	probably damaging	Het
Kcna2	T	C	3: 107,012,733 (GRCm39)	I438T	probably benign	Het
Kif24	A	G	4: 41,397,545 (GRCm39)		probably null	Het
Klhl1	G	A	14: 96,389,402 (GRCm39)	T584I	probably benign	Het
Ltbp1	A	G	17: 75,532,199 (GRCm39)	D91G	probably damaging	Het
Mdga2	T	C	12: 66,844,427 (GRCm39)	I190M	probably damaging	Het
Meis2	G	A	2: 115,830,686 (GRCm39)	R276C	probably damaging	Het
Mob4	C	T	1: 55,191,855 (GRCm39)	R190W	probably damaging	Het
Mrgpra2a	A	G	7: 47,077,114 (GRCm39)	I48T	possibly damaging	Het
Mst1	T	C	9: 107,960,826 (GRCm39)	V481A	probably benign	Het
Mttp	A	T	3: 137,821,832 (GRCm39)	V245E	possibly damaging	Het
Neb	G	T	2: 52,083,243 (GRCm39)	T5654N	probably damaging	Het
Nlrp9a	A	T	7: 26,256,866 (GRCm39)	K161N	probably damaging	Het
Nod2	T	G	8: 89,390,902 (GRCm39)	F388C	possibly damaging	Het
Or3a1	G	T	11: 74,225,402 (GRCm39)	F218L	probably benign	Het
Or4a75	G	T	2: 89,447,814 (GRCm39)	H241N	possibly damaging	Het
Or4f58	A	G	2: 111,851,332 (GRCm39)	F289S	possibly damaging	Het
Or52e2	A	T	7: 102,804,332 (GRCm39)	N207K	probably benign	Het
Or7a38	T	A	10: 78,753,361 (GRCm39)	I229N	probably damaging	Het
Or7g25	G	A	9: 19,160,153 (GRCm39)	L181F	possibly damaging	Het
P2ry1	A	G	3: 60,911,898 (GRCm39)	S346G	probably benign	Het
Polr1f	T	A	12: 33,487,679 (GRCm39)		probably null	Het
Prkcd	A	G	14: 30,321,623 (GRCm39)	F524L	probably benign	Het
Qrfprl	T	C	6: 65,429,898 (GRCm39)	I198T	probably benign	Het
Ramp3	A	T	11: 6,624,843 (GRCm39)	M46L	probably benign	Het
Rint1	T	C	5: 24,014,791 (GRCm39)	Y278H	probably damaging	Het
Skint11	C	T	4: 114,051,874 (GRCm39)	T74I	probably benign	Het
Slc10a7	T	C	8: 79,433,579 (GRCm39)		probably null	Het
Slc45a2	T	A	15: 11,028,016 (GRCm39)	Y528*	probably null	Het
Slit1	A	G	19: 41,637,452 (GRCm39)	F329L	probably damaging	Het
Sltm	A	T	9: 70,498,892 (GRCm39)	M989L	possibly damaging	Het
Smad9	A	T	3: 54,701,874 (GRCm39)	T372S	possibly damaging	Het
Snrpc	T	A	17: 28,061,306 (GRCm39)	Y38*	probably null	Het
Spag17	A	G	3: 100,010,701 (GRCm39)	K2065R	possibly damaging	Het
Stxbp4	T	A	11: 90,498,197 (GRCm39)	K87N	probably damaging	Het
Tbc1d23	AT	ATT	16: 57,019,258 (GRCm39)		probably null	Het
Tgfb1i1	A	T	7: 127,848,571 (GRCm39)	M96L	probably damaging	Het
Tnc	T	A	4: 63,885,580 (GRCm39)	I1841F	probably damaging	Het
Ubap2	G	T	4: 41,211,771 (GRCm39)	H63Q	probably damaging	Het
Vps13a	T	C	19: 16,632,580 (GRCm39)	N2592S	probably benign	Het
Xdh	G	A	17: 74,193,381 (GRCm39)	P1305L	probably benign	Het
Xrn1	G	A	9: 95,921,862 (GRCm39)	R1425K	probably benign	Het
Zfp418	G	A	7: 7,185,762 (GRCm39)	R575Q	possibly damaging	Het
Zfp608	T	A	18: 55,027,544 (GRCm39)	Q1424H	probably damaging	Het
Zfp839	C	A	12: 110,821,635 (GRCm39)	L150I	possibly damaging	Het

Other mutations in Nbn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:Nbn	APN	4	15,964,320 (GRCm39)	missense	probably benign	0.01
IGL00921:Nbn	APN	4	15,963,833 (GRCm39)	missense	possibly damaging	0.85
IGL01621:Nbn	APN	4	15,965,221 (GRCm39)	missense	probably benign	0.45
IGL02372:Nbn	APN	4	15,986,613 (GRCm39)	missense	probably benign	0.00
IGL03392:Nbn	APN	4	15,962,362 (GRCm39)	missense	probably damaging	1.00
nebish	UTSW	4	15,965,132 (GRCm39)	critical splice acceptor site	probably null
zenobia	UTSW	4	15,969,391 (GRCm39)	missense	probably damaging	1.00
R0238:Nbn	UTSW	4	15,986,672 (GRCm39)	splice site	probably benign
R0244:Nbn	UTSW	4	15,979,353 (GRCm39)	missense	probably benign	0.00
R0432:Nbn	UTSW	4	15,983,951 (GRCm39)	unclassified	probably benign
R0946:Nbn	UTSW	4	15,970,719 (GRCm39)	critical splice acceptor site	probably null
R1076:Nbn	UTSW	4	15,970,719 (GRCm39)	critical splice acceptor site	probably null
R1563:Nbn	UTSW	4	15,981,668 (GRCm39)	missense	possibly damaging	0.77
R1579:Nbn	UTSW	4	15,964,289 (GRCm39)	missense	probably damaging	0.99
R1660:Nbn	UTSW	4	15,971,771 (GRCm39)	missense	probably benign	0.06
R1663:Nbn	UTSW	4	15,970,903 (GRCm39)	missense	probably benign	0.13
R2005:Nbn	UTSW	4	15,979,351 (GRCm39)	missense	probably benign	0.01
R2010:Nbn	UTSW	4	15,969,393 (GRCm39)	missense	probably damaging	1.00
R2077:Nbn	UTSW	4	15,979,389 (GRCm39)	missense	probably damaging	1.00
R2228:Nbn	UTSW	4	15,970,904 (GRCm39)	missense	probably benign	0.01
R2229:Nbn	UTSW	4	15,970,904 (GRCm39)	missense	probably benign	0.01
R2356:Nbn	UTSW	4	15,970,863 (GRCm39)	missense	probably damaging	0.96
R2869:Nbn	UTSW	4	15,963,810 (GRCm39)	missense	probably damaging	1.00
R2869:Nbn	UTSW	4	15,963,810 (GRCm39)	missense	probably damaging	1.00
R3508:Nbn	UTSW	4	15,962,387 (GRCm39)	missense	probably damaging	1.00
R3745:Nbn	UTSW	4	15,976,163 (GRCm39)	missense	possibly damaging	0.67
R3753:Nbn	UTSW	4	15,964,269 (GRCm39)	missense	probably damaging	0.98
R5042:Nbn	UTSW	4	15,981,446 (GRCm39)	missense	probably benign	0.10
R5177:Nbn	UTSW	4	15,965,132 (GRCm39)	critical splice acceptor site	probably null
R5229:Nbn	UTSW	4	15,963,893 (GRCm39)	missense	probably damaging	0.98
R5368:Nbn	UTSW	4	15,969,391 (GRCm39)	missense	probably damaging	1.00
R5431:Nbn	UTSW	4	15,986,593 (GRCm39)	missense	probably benign
R6025:Nbn	UTSW	4	15,981,347 (GRCm39)	missense	probably damaging	0.97
R6375:Nbn	UTSW	4	15,979,327 (GRCm39)	missense	probably benign
R6543:Nbn	UTSW	4	15,986,605 (GRCm39)	missense	probably benign	0.39
R6655:Nbn	UTSW	4	15,981,696 (GRCm39)	missense	probably damaging	0.98
R6965:Nbn	UTSW	4	15,970,863 (GRCm39)	missense	probably benign	0.25
R7090:Nbn	UTSW	4	15,981,350 (GRCm39)	missense	probably benign	0.06
R7159:Nbn	UTSW	4	15,983,677 (GRCm39)	splice site	probably null
R7241:Nbn	UTSW	4	15,991,190 (GRCm39)	missense	probably benign	0.00
R7267:Nbn	UTSW	4	15,979,320 (GRCm39)	missense	probably benign	0.00
R7597:Nbn	UTSW	4	15,963,911 (GRCm39)	missense	probably damaging	1.00
R7937:Nbn	UTSW	4	15,958,080 (GRCm39)	missense	probably damaging	0.99
R8110:Nbn	UTSW	4	15,981,588 (GRCm39)	missense	probably benign	0.02
R8317:Nbn	UTSW	4	15,970,893 (GRCm39)	missense	probably damaging	0.96
R8327:Nbn	UTSW	4	15,981,470 (GRCm39)	missense	probably benign	0.00
R8725:Nbn	UTSW	4	15,963,911 (GRCm39)	missense	probably damaging	1.00
R8727:Nbn	UTSW	4	15,963,911 (GRCm39)	missense	probably damaging	1.00
R8747:Nbn	UTSW	4	15,981,555 (GRCm39)	missense	probably damaging	0.96
R8909:Nbn	UTSW	4	15,970,833 (GRCm39)	missense	probably damaging	1.00
R8973:Nbn	UTSW	4	15,986,585 (GRCm39)	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