Mutagenetix > Incidental Mutation

Incidental Mutation 'R0540:Nexn'

49789

Institutional Source

Beutler Lab

Gene Symbol

Nexn

Ensembl Gene

ENSMUSG00000039103

Gene Name

nexilin

Synonyms

1110046H09Rik, nF actin binding protein

MMRRC Submission

038732-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.449) question?

Stock #

R0540 (G1)

Quality Score

181

Status

Not validated

Chromosome

Chromosomal Location

151942619-151971987 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 151953879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 192 (K192*)

Ref Sequence

ENSEMBL: ENSMUSP00000142559 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046045] [ENSMUST00000196504] [ENSMUST00000196815] [ENSMUST00000198648] [ENSMUST00000199423] [ENSMUST00000199685] [ENSMUST00000198460] [ENSMUST00000198750] [ENSMUST00000200589] [ENSMUST00000199470]

AlphaFold

Q7TPW1

Predicted Effect

probably null
Transcript: ENSMUST00000046045
AA Change: K142*

SMART Domains

Protein: ENSMUSP00000037120
Gene: ENSMUSG00000039103
AA Change: K142*

Domain	Start	End	E-Value	Type
coiled coil region	40	92	N/A	INTRINSIC
coiled coil region	176	358	N/A	INTRINSIC
coiled coil region	391	419	N/A	INTRINSIC
low complexity region	452	470	N/A	INTRINSIC
low complexity region	487	493	N/A	INTRINSIC
IG	519	603	4.82e-6	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000196504
AA Change: K142*

SMART Domains

Protein: ENSMUSP00000143180
Gene: ENSMUSG00000039103
AA Change: K142*

Domain	Start	End	E-Value	Type
coiled coil region	40	92	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000196529
AA Change: K8*

Predicted Effect

probably benign
Transcript: ENSMUST00000196815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197282

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197507

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198404

Predicted Effect

probably null
Transcript: ENSMUST00000198648
AA Change: K142*

SMART Domains

Protein: ENSMUSP00000143294
Gene: ENSMUSG00000039103
AA Change: K142*

Domain	Start	End	E-Value	Type
coiled coil region	40	92	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000199423
AA Change: K206*

SMART Domains

Protein: ENSMUSP00000142936
Gene: ENSMUSG00000039103
AA Change: K206*

Domain	Start	End	E-Value	Type
internal_repeat_1	14	35	4.74e-6	PROSPERO
low complexity region	36	53	N/A	INTRINSIC
internal_repeat_1	86	106	4.74e-6	PROSPERO
low complexity region	108	131	N/A	INTRINSIC
coiled coil region	240	422	N/A	INTRINSIC
coiled coil region	455	483	N/A	INTRINSIC
coiled coil region	506	557	N/A	INTRINSIC
IG	583	667	2e-8	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000199685
AA Change: K142*

SMART Domains

Protein: ENSMUSP00000142569
Gene: ENSMUSG00000039103
AA Change: K142*

Domain	Start	End	E-Value	Type
coiled coil region	40	92	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000198460
AA Change: K192*

SMART Domains

Protein: ENSMUSP00000143573
Gene: ENSMUSG00000039103
AA Change: K192*

Domain	Start	End	E-Value	Type
internal_repeat_1	14	35	1.01e-5	PROSPERO
low complexity region	36	53	N/A	INTRINSIC
internal_repeat_1	86	106	1.01e-5	PROSPERO
low complexity region	108	131	N/A	INTRINSIC
coiled coil region	226	345	N/A	INTRINSIC
coiled coil region	378	406	N/A	INTRINSIC
coiled coil region	429	480	N/A	INTRINSIC
IG	506	590	2.1e-8	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000198750
AA Change: K128*

SMART Domains

Protein: ENSMUSP00000142574
Gene: ENSMUSG00000039103
AA Change: K128*

Domain	Start	End	E-Value	Type
coiled coil region	40	86	N/A	INTRINSIC
coiled coil region	162	269	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000200589
AA Change: K192*

SMART Domains

Protein: ENSMUSP00000142559
Gene: ENSMUSG00000039103
AA Change: K192*

Domain	Start	End	E-Value	Type
internal_repeat_1	14	35	8.44e-7	PROSPERO
low complexity region	36	53	N/A	INTRINSIC
internal_repeat_1	86	106	8.44e-7	PROSPERO
low complexity region	108	131	N/A	INTRINSIC
coiled coil region	226	333	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199752

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199983

Predicted Effect

probably benign
Transcript: ENSMUST00000199470

SMART Domains

Protein: ENSMUSP00000143133
Gene: ENSMUSG00000039103

Domain	Start	End	E-Value	Type
internal_repeat_1	14	35	5.77e-6	PROSPERO
low complexity region	36	53	N/A	INTRINSIC
internal_repeat_1	86	106	5.77e-6	PROSPERO
low complexity region	108	131	N/A	INTRINSIC
low complexity region	176	210	N/A	INTRINSIC
low complexity region	248	259	N/A	INTRINSIC
coiled coil region	321	349	N/A	INTRINSIC
coiled coil region	372	423	N/A	INTRINSIC
IG	449	533	2e-8	SMART

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. Mutations in this gene have been associated with dilated cardiomyopathy, also known as CMD1CC. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality with endomyocardial fibroelastosis, cardiac hypertrophy and dilated cardiomyopathy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	G	3: 59,926,627 (GRCm39)	T199A	possibly damaging	Het
Als2cl	C	A	9: 110,724,852 (GRCm39)	Y775*	probably null	Het
Ankhd1	G	T	18: 36,773,333 (GRCm39)	V59F	probably damaging	Het
Ano4	T	A	10: 88,859,806 (GRCm39)	I395F	probably benign	Het
Apcdd1	A	G	18: 63,084,967 (GRCm39)	N388S	possibly damaging	Het
Arl9	A	G	5: 77,155,118 (GRCm39)	Y83C	possibly damaging	Het
Armc2	T	A	10: 41,798,691 (GRCm39)	H706L	probably benign	Het
Arrb1	T	C	7: 99,237,403 (GRCm39)		probably null	Het
Atxn1	G	A	13: 45,711,006 (GRCm39)	S642L	probably damaging	Het
Bmp8a	A	G	4: 123,209,723 (GRCm39)	Y322H	probably damaging	Het
Btbd3	C	T	2: 138,125,736 (GRCm39)	R307W	possibly damaging	Het
C1galt1	T	C	6: 7,871,193 (GRCm39)	I343T	probably benign	Het
Capn2	A	T	1: 182,319,749 (GRCm39)	Y146*	probably null	Het
Ccdc42	C	T	11: 68,488,536 (GRCm39)	Q312*	probably null	Het
Cd209e	T	C	8: 3,901,265 (GRCm39)	K130E	probably benign	Het
Chd3	T	C	11: 69,235,184 (GRCm39)	D2054G	probably damaging	Het
Chrna1	T	C	2: 73,401,815 (GRCm39)	N161S	probably damaging	Het
Clp1	C	T	2: 84,555,935 (GRCm39)	A182T	possibly damaging	Het
Cpsf7	G	T	19: 10,510,682 (GRCm39)	E135*	probably null	Het
Csf2rb2	T	C	15: 78,172,108 (GRCm39)	Y325C	probably benign	Het
Cspg5	T	C	9: 110,076,460 (GRCm39)		probably null	Het
Ctnna2	T	C	6: 76,879,413 (GRCm39)	T824A	probably benign	Het
Cyp2b13	G	A	7: 25,781,136 (GRCm39)	V183I	probably benign	Het
D430041D05Rik	C	T	2: 104,063,790 (GRCm39)	R1354H	probably damaging	Het
Ddx24	A	G	12: 103,385,326 (GRCm39)	Y426H	possibly damaging	Het
Dexi	G	T	16: 10,360,426 (GRCm39)	Y43*	probably null	Het
Dlg1	G	A	16: 31,656,992 (GRCm39)	V596I	possibly damaging	Het
Dnah11	A	C	12: 118,046,246 (GRCm39)	W1731G	probably damaging	Het
Dnhd1	T	A	7: 105,369,995 (GRCm39)	N4473K	probably benign	Het
Dync2h1	A	C	9: 7,051,480 (GRCm39)	S3152A	probably benign	Het
Edn3	C	A	2: 174,602,767 (GRCm39)	P3Q	probably damaging	Het
Eif2a	G	A	3: 58,463,073 (GRCm39)		probably null	Het
Emb	G	A	13: 117,369,286 (GRCm39)	V56I	possibly damaging	Het
Enpp4	A	T	17: 44,410,386 (GRCm39)	C397S	probably damaging	Het
Exo5	A	G	4: 120,779,178 (GRCm39)	V229A	probably damaging	Het
Fga	G	A	3: 82,935,869 (GRCm39)	G32E	probably damaging	Het
Fkbpl	T	C	17: 34,864,333 (GRCm39)	F34L	probably benign	Het
Fsd2	T	A	7: 81,194,765 (GRCm39)	D466V	probably damaging	Het
Gcn1	T	C	5: 115,727,015 (GRCm39)	V624A	probably benign	Het
Git2	A	G	5: 114,886,335 (GRCm39)	F336L	probably damaging	Het
Greb1	T	A	12: 16,732,194 (GRCm39)	Y1589F	probably damaging	Het
H2-K2	G	T	17: 34,218,474 (GRCm39)	D127E	probably damaging	Het
Ints8	A	G	4: 11,252,926 (GRCm39)	V52A	possibly damaging	Het
Kifc1	G	A	17: 34,105,621 (GRCm39)	T62I	probably damaging	Het
Klhl6	C	A	16: 19,775,764 (GRCm39)	D265Y	possibly damaging	Het
Kmt5a	T	A	5: 124,589,373 (GRCm39)	N190K	probably damaging	Het
Lce6a	A	T	3: 92,527,635 (GRCm39)	H57Q	probably benign	Het
Lipo3	A	T	19: 33,536,967 (GRCm39)	I251K	possibly damaging	Het
Lnpep	A	T	17: 17,758,816 (GRCm39)	F843I	probably damaging	Het
Lrrc45	C	T	11: 120,605,988 (GRCm39)	R99*	probably null	Het
Lrrtm1	C	A	6: 77,221,611 (GRCm39)	A356E	probably damaging	Het
Map3k1	A	C	13: 111,900,044 (GRCm39)	H493Q	probably benign	Het
Mcm4	A	T	16: 15,449,979 (GRCm39)		probably null	Het
Mllt3	G	A	4: 87,759,281 (GRCm39)	P256S	possibly damaging	Het
Mrtfb	A	G	16: 13,199,465 (GRCm39)	E106G	probably damaging	Het
Myo7a	T	A	7: 97,721,153 (GRCm39)	T1271S	probably damaging	Het
Ncan	C	A	8: 70,567,809 (GRCm39)	R101L	possibly damaging	Het
Ndufaf7	A	G	17: 79,253,885 (GRCm39)	D361G	probably benign	Het
Neurod6	C	T	6: 55,656,572 (GRCm39)	A22T	probably benign	Het
Nipsnap2	A	T	5: 129,831,909 (GRCm39)	Y234F	probably damaging	Het
Nlrp10	T	C	7: 108,523,492 (GRCm39)	K663E	probably benign	Het
Nprl2	A	T	9: 107,422,497 (GRCm39)	Y329F	possibly damaging	Het
Nr2f2	C	A	7: 70,004,460 (GRCm39)	R264L	probably damaging	Het
Nsun7	A	T	5: 66,440,977 (GRCm39)	K366I	probably damaging	Het
Nup35	T	A	2: 80,472,984 (GRCm39)	M19K	probably benign	Het
Or10a4	T	A	7: 106,696,933 (GRCm39)	I87K	probably benign	Het
Or11i1	A	T	3: 106,729,829 (GRCm39)	F15L	probably damaging	Het
Or1ad6	C	A	11: 50,860,670 (GRCm39)	A275D	possibly damaging	Het
Or2v1	C	G	11: 49,025,549 (GRCm39)	H177D	probably damaging	Het
Or2w2	T	A	13: 21,757,948 (GRCm39)	Y226F	probably benign	Het
Or5af1	T	A	11: 58,722,798 (GRCm39)	S273T	probably damaging	Het
Or5p51	A	G	7: 107,444,776 (GRCm39)	S55P	probably damaging	Het
Patl2	T	C	2: 121,957,150 (GRCm39)	Y128C	probably benign	Het
Pcdhac2	A	G	18: 37,278,942 (GRCm39)	I641V	probably benign	Het
Peli3	T	C	19: 4,991,939 (GRCm39)	M1V	probably null	Het
Pex16	T	A	2: 92,205,982 (GRCm39)	L25*	probably null	Het
Plekhn1	C	A	4: 156,307,204 (GRCm39)	A449S	possibly damaging	Het
Pot1b	A	T	17: 55,972,765 (GRCm39)	I469N	probably damaging	Het
Prdx6	A	C	1: 161,078,673 (GRCm39)	L5W	probably damaging	Het
Prrc1	G	A	18: 57,507,622 (GRCm39)	V259I	possibly damaging	Het
Prss38	T	C	11: 59,266,369 (GRCm39)	S30G	possibly damaging	Het
Rgs6	C	A	12: 83,106,578 (GRCm39)	Y151*	probably null	Het
Ripk4	A	C	16: 97,545,375 (GRCm39)	L361R	probably damaging	Het
Serpinb3d	C	T	1: 107,006,962 (GRCm39)	D249N	probably benign	Het
Skint10	A	T	4: 112,630,224 (GRCm39)		probably null	Het
Smg7	A	T	1: 152,731,713 (GRCm39)	N349K	probably benign	Het
Sohlh2	C	A	3: 55,115,104 (GRCm39)	S363Y	probably damaging	Het
Srsf10	A	G	4: 135,591,179 (GRCm39)	T210A	possibly damaging	Het
Synpo2l	A	T	14: 20,710,748 (GRCm39)	M624K	probably damaging	Het
Thsd7a	T	A	6: 12,331,541 (GRCm39)		probably null	Het
Tnc	A	T	4: 63,938,692 (GRCm39)	V49E	probably damaging	Het
Tnik	A	C	3: 28,704,308 (GRCm39)	K989T	probably damaging	Het
Tnxb	T	A	17: 34,890,892 (GRCm39)	Y412N	probably damaging	Het
Trmt44	A	G	5: 35,726,103 (GRCm39)		probably null	Het
Tsc2	A	T	17: 24,840,686 (GRCm39)	V391E	probably damaging	Het
Ttll5	T	C	12: 85,980,450 (GRCm39)		probably null	Het
Usp28	A	G	9: 48,935,360 (GRCm39)	I104V	probably benign	Het
Vmn1r64	A	G	7: 5,887,096 (GRCm39)	L149S	probably damaging	Het
Yme1l1	T	A	2: 23,082,527 (GRCm39)	M506K	possibly damaging	Het
Zfp280d	T	A	9: 72,215,247 (GRCm39)	F98I	probably damaging	Het
Zfp62	C	A	11: 49,106,227 (GRCm39)	T106K	probably benign	Het

Other mutations in Nexn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01316:Nexn	APN	3	151,952,870 (GRCm39)	missense	probably benign	0.00
IGL01681:Nexn	APN	3	151,949,507 (GRCm39)	missense	possibly damaging	0.86
IGL02098:Nexn	APN	3	151,949,540 (GRCm39)	nonsense	probably null
IGL02146:Nexn	APN	3	151,952,885 (GRCm39)	missense	probably benign	0.01
IGL02151:Nexn	APN	3	151,953,881 (GRCm39)	missense	probably damaging	0.99
R0369:Nexn	UTSW	3	151,953,894 (GRCm39)	missense	probably benign	0.40
R1501:Nexn	UTSW	3	151,943,323 (GRCm39)	missense	possibly damaging	0.91
R1828:Nexn	UTSW	3	151,948,405 (GRCm39)	missense	probably damaging	1.00
R1903:Nexn	UTSW	3	151,953,818 (GRCm39)	missense	probably damaging	0.99
R1990:Nexn	UTSW	3	151,958,576 (GRCm39)	missense	probably damaging	1.00
R2857:Nexn	UTSW	3	151,953,680 (GRCm39)	missense	probably damaging	1.00
R2858:Nexn	UTSW	3	151,953,680 (GRCm39)	missense	probably damaging	1.00
R4482:Nexn	UTSW	3	151,948,390 (GRCm39)	missense	probably damaging	0.99
R4593:Nexn	UTSW	3	151,958,553 (GRCm39)	missense	probably damaging	1.00
R4750:Nexn	UTSW	3	151,943,359 (GRCm39)	missense	probably damaging	1.00
R5113:Nexn	UTSW	3	151,949,525 (GRCm39)	missense	probably damaging	1.00
R5252:Nexn	UTSW	3	151,943,590 (GRCm39)	missense	probably benign	0.01
R5289:Nexn	UTSW	3	151,953,709 (GRCm39)	missense	probably benign	0.13
R5502:Nexn	UTSW	3	151,943,941 (GRCm39)	missense	probably damaging	1.00
R5746:Nexn	UTSW	3	151,948,513 (GRCm39)	unclassified	probably benign
R6230:Nexn	UTSW	3	151,943,912 (GRCm39)	missense	probably damaging	1.00
R7251:Nexn	UTSW	3	151,952,832 (GRCm39)	missense	probably damaging	0.96
R7523:Nexn	UTSW	3	151,952,815 (GRCm39)	missense	probably benign	0.01
R7571:Nexn	UTSW	3	151,959,284 (GRCm39)	missense	possibly damaging	0.80
R7587:Nexn	UTSW	3	151,952,815 (GRCm39)	missense	probably benign	0.01
R8359:Nexn	UTSW	3	151,953,998 (GRCm39)	missense	probably damaging	0.98
R8898:Nexn	UTSW	3	151,948,306 (GRCm39)	missense	probably benign	0.08
R9382:Nexn	UTSW	3	151,959,401 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTCGCCTCCTCAAAGGAACGTC -3'
(R):5'- AGACTGCTCCTTGAAACTGCCATC -3'

Sequencing Primer
(F):5'- AAAGGAACGTCTCTCTTCTTCTAAGC -3'
(R):5'- gttttgttttttgttttgttttgtCC -3'

Posted On

2013-06-12