Mutagenetix > Incidental Mutations

Incidental Mutation 'R7523:Nexn'

582774

Institutional Source

Beutler Lab

Gene Symbol

Nexn

Ensembl Gene

ENSMUSG00000039103

Gene Name

nexilin

Synonyms

1110046H09Rik, nF actin binding protein

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.510) question?

Stock #

R7523 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152236982-152266350 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152247178 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 316 (R316G)

Ref Sequence

ENSEMBL: ENSMUSP00000142936 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000046045
AA Change: R252G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000037120
Gene: ENSMUSG00000039103
AA Change: R252G

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 benign
Transcript: ENSMUST00000196504

SMART Domains

Protein: ENSMUSP00000143180
Gene: ENSMUSG00000039103

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196815

Predicted Effect

probably benign
Transcript: ENSMUST00000198460

SMART Domains

Protein: ENSMUSP00000143573
Gene: ENSMUSG00000039103

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 benign
Transcript: ENSMUST00000198648

SMART Domains

Protein: ENSMUSP00000143294
Gene: ENSMUSG00000039103

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

Predicted Effect

unknown
Transcript: ENSMUST00000198750
AA Change: R238G

SMART Domains

Protein: ENSMUSP00000142574
Gene: ENSMUSG00000039103
AA Change: R238G

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 benign
Transcript: ENSMUST00000199423
AA Change: R316G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000142936
Gene: ENSMUSG00000039103
AA Change: R316G

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 benign
Transcript: ENSMUST00000199470
AA Change: R182G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000143133
Gene: ENSMUSG00000039103
AA Change: R182G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000199685

SMART Domains

Protein: ENSMUSP00000142569
Gene: ENSMUSG00000039103

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

Predicted Effect

probably benign
Transcript: ENSMUST00000200589
AA Change: R302G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000142559
Gene: ENSMUSG00000039103
AA Change: R302G

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

Meta Mutation Damage Score

0.1157

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (46/46)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	A	2: 68,662,480	H40Q	unknown	Het
4932414N04Rik	A	T	2: 68,739,329	Q463L	probably benign	Het
Ano4	C	A	10: 88,971,395	E775*	probably null	Het
Atp12a	T	C	14: 56,365,968	V10A	possibly damaging	Het
Camkmt	A	G	17: 85,391,628	I144M	probably benign	Het
Cyth1	TGGGCAA	T	11: 118,183,923		probably null	Het
Dazl	G	A	17: 50,287,541	T162I	probably damaging	Het
Dnah10	A	G	5: 124,747,739	K653R	probably damaging	Het
Exosc10	A	T	4: 148,563,842		probably null	Het
Fam96b	G	A	8: 104,641,772		probably benign	Het
Fbn2	T	C	18: 58,066,080	D1372G	probably benign	Het
Fxr1	T	C	3: 34,039,543	V23A	probably benign	Het
Gmps	T	C	3: 64,011,666	I557T	possibly damaging	Het
Ifnab	A	T	4: 88,690,792	Y146N	probably damaging	Het
Krt78	T	C	15: 101,946,601	Y925C	not run	Het
Lrp1b	C	T	2: 41,511,461	V394M		Het
Ltbp2	T	C	12: 84,791,034	T1211A	probably benign	Het
Man2a2	G	C	7: 80,368,865	A82G	probably benign	Het
Mdn1	A	T	4: 32,667,270		probably null	Het
Myo15b	A	T	11: 115,890,858	I2798F	unknown	Het
Nat3	T	C	8: 67,547,574	I35T	probably damaging	Het
Nectin2	A	G	7: 19,730,112	V314A	probably benign	Het
Nfx1	A	G	4: 41,016,119	I894V	probably benign	Het
Olfr1045	T	C	2: 86,198,045	K236E	probably damaging	Het
Olfr15	T	C	16: 3,839,699	V242A	probably benign	Het
Pdcd4	G	T	19: 53,910,948	V123F	probably damaging	Het
Pik3c3	C	T	18: 30,293,655	R275W	probably damaging	Het
Ppt2	A	G	17: 34,626,803		probably null	Het
Prss35	T	A	9: 86,755,374	C66S	probably damaging	Het
Ptbp3	A	G	4: 59,546,159	V11A	probably benign	Het
Ptpn22	A	G	3: 103,912,015	N795S	probably damaging	Het
Ptprg	T	G	14: 12,237,130	I1383S	probably damaging	Het
Rtel1	G	A	2: 181,322,315	V36M	probably damaging	Het
Sf3b3	A	G	8: 110,813,720	I1023T	probably benign	Het
Slc44a2	A	G	9: 21,345,992	E411G	probably null	Het
Stard9	T	C	2: 120,699,597	Y2112H	probably benign	Het
Tada2b	T	C	5: 36,476,767	I156V	probably benign	Het
Tenm2	A	T	11: 36,078,581		probably null	Het
Tle1	A	T	4: 72,145,418	S199R	possibly damaging	Het
Tubgcp2	A	G	7: 140,006,870	I399T	probably benign	Het
Ubr5	T	C	15: 38,004,055	N1344S		Het
Vmn2r114	A	G	17: 23,310,637	F164L	probably benign	Het
Vps13a	G	T	19: 16,703,789	T1041K	probably benign	Het
Zbtb20	T	C	16: 43,610,512	V389A	probably benign	Het
Zfp811	A	T	17: 32,797,752	I438N	probably benign	Het
Zfp90	A	G	8: 106,423,913	D86G	probably benign	Het

Other mutations in Nexn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01316:Nexn	APN	3	152247233	missense	probably benign	0.00
IGL01681:Nexn	APN	3	152243870	missense	possibly damaging	0.86
IGL02098:Nexn	APN	3	152243903	nonsense	probably null
IGL02146:Nexn	APN	3	152247248	missense	probably benign	0.01
IGL02151:Nexn	APN	3	152248244	missense	probably damaging	0.99
R0369:Nexn	UTSW	3	152248257	missense	probably benign	0.40
R0540:Nexn	UTSW	3	152248242	nonsense	probably null
R1501:Nexn	UTSW	3	152237686	missense	possibly damaging	0.91
R1828:Nexn	UTSW	3	152242768	missense	probably damaging	1.00
R1903:Nexn	UTSW	3	152248181	missense	probably damaging	0.99
R1990:Nexn	UTSW	3	152252939	missense	probably damaging	1.00
R2857:Nexn	UTSW	3	152248043	missense	probably damaging	1.00
R2858:Nexn	UTSW	3	152248043	missense	probably damaging	1.00
R4482:Nexn	UTSW	3	152242753	missense	probably damaging	0.99
R4593:Nexn	UTSW	3	152252916	missense	probably damaging	1.00
R4750:Nexn	UTSW	3	152237722	missense	probably damaging	1.00
R5113:Nexn	UTSW	3	152243888	missense	probably damaging	1.00
R5252:Nexn	UTSW	3	152237953	missense	probably benign	0.01
R5289:Nexn	UTSW	3	152248072	missense	probably benign	0.13
R5502:Nexn	UTSW	3	152238304	missense	probably damaging	1.00
R5746:Nexn	UTSW	3	152242876	unclassified	probably benign
R6230:Nexn	UTSW	3	152238275	missense	probably damaging	1.00
R7251:Nexn	UTSW	3	152247195	missense	probably damaging	0.96
R7571:Nexn	UTSW	3	152253647	missense	possibly damaging	0.80
R7587:Nexn	UTSW	3	152247178	missense	probably benign	0.01
R8359:Nexn	UTSW	3	152248361	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCTCCTAGCTTGGGCAAGTACAC -3'
(R):5'- CCAGAAGGAACTGAAGTATTCTGGG -3'

Sequencing Primer
(F):5'- TAGCTTGGGCAAGTACACATACC -3'
(R):5'- GTCTAGTTGCTAGCCACATACC -3'

Posted On

2019-10-17