Mutagenetix > Incidental Mutation

Incidental Mutation 'R7587:Nexn'

587197

Institutional Source

Beutler Lab

Gene Symbol

Nexn

Ensembl Gene

ENSMUSG00000039103

Gene Name

nexilin

Synonyms

1110046H09Rik, nF actin binding protein

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.320) question?

Stock #

R7587 (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 (GRCm38)

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]

AlphaFold

Q7TPW1

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: 99.8%
20x: 99.5%

Validation Efficiency

100% (63/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,792,087	T131A	probably damaging	Het
Asah1	A	T	8: 41,374,541	V15D	probably benign	Het
Asic1	A	C	15: 99,695,590	Q276P	probably damaging	Het
Atl2	A	T	17: 79,865,067	V158E	probably benign	Het
Atrn	T	A	2: 130,980,114	I909N	probably damaging	Het
BC034090	A	G	1: 155,217,486	V742A	probably damaging	Het
Capzb	T	A	4: 139,262,023	D85E	possibly damaging	Het
Cdh20	T	C	1: 104,941,279	F165S	probably damaging	Het
Cfap44	A	G	16: 44,404,106	E59G	probably benign	Het
Clpsl2	G	A	17: 28,549,541	V10I	probably benign	Het
D630003M21Rik	T	C	2: 158,196,388	Y1046C	probably benign	Het
D630003M21Rik	T	A	2: 158,201,056	S855C	probably damaging	Het
D6Wsu163e	A	G	6: 126,955,896	I361V	probably benign	Het
Dchs2	A	G	3: 83,304,515	I1874V	probably benign	Het
Dennd2a	T	G	6: 39,483,135	K679Q	probably damaging	Het
Dio2	A	G	12: 90,729,560	V218A	probably benign	Het
Fam208b	T	C	13: 3,568,849	K2251E	possibly damaging	Het
Gm3286	A	G	5: 95,521,411	T100A	probably damaging	Het
Gpr107	A	T	2: 31,168,826	K109N	probably benign	Het
Gpr108	C	T	17: 57,236,732	R448Q	probably damaging	Het
Gucy2c	A	G	6: 136,704,290	V932A	probably damaging	Het
Kcnj8	T	C	6: 142,566,339	T181A	probably damaging	Het
Kdm3b	A	G	18: 34,797,027		probably null	Het
Lipc	A	G	9: 70,818,924	Y168H	probably damaging	Het
Lipi	C	T	16: 75,550,215	V439M	probably benign	Het
Lpp	A	T	16: 24,762,279		probably null	Het
Lrp1b	T	G	2: 40,730,717	D3583A		Het
Ltbr	T	C	6: 125,312,352	T165A	probably benign	Het
Mroh3	A	G	1: 136,190,998	I527T	probably benign	Het
Mylk	A	G	16: 34,922,517	E1133G	probably benign	Het
Nat3	T	C	8: 67,547,574	I35T	probably damaging	Het
Ncbp3	T	C	11: 73,066,765		probably null	Het
Nedd1	G	A	10: 92,698,730	T306M	probably benign	Het
Nox4	A	G	7: 87,317,302	H207R	probably damaging	Het
Nsun6	T	C	2: 15,039,825	Q110R	probably benign	Het
Olfr22-ps1	C	T	11: 73,955,184	Q165*	probably null	Het
Olfr668	C	T	7: 104,925,056	R236H	probably benign	Het
Olfr851	T	A	9: 19,497,522	V258E	probably damaging	Het
Pappa2	T	C	1: 158,851,131	D905G	probably damaging	Het
Pepd	T	C	7: 34,969,540	L195S	probably damaging	Het
Pms1	A	G	1: 53,207,316	S355P	probably benign	Het
Pop1	A	T	15: 34,502,413	K82M	probably damaging	Het
Ppp1r9b	T	A	11: 95,001,940	D655E	possibly damaging	Het
Ppt2	A	G	17: 34,626,803		probably null	Het
Prss35	T	A	9: 86,755,374	C66S	probably damaging	Het
Rfc3	A	T	5: 151,651,151	M1K	probably null	Het
Rffl	T	C	11: 82,810,148	D284G	probably damaging	Het
Robo3	T	C	9: 37,429,646	D110G	probably damaging	Het
Rtel1	G	A	2: 181,322,315	V36M	probably damaging	Het
Slc1a7	T	A	4: 108,010,486	I457K	possibly damaging	Het
Smco1	A	G	16: 32,273,723	M71V	probably benign	Het
Snrnp200	G	A	2: 127,227,902	S989N	probably damaging	Het
Spef2	T	A	15: 9,713,219	I356F	probably damaging	Het
Stk24	C	T	14: 121,302,287	A166T	probably damaging	Het
Tada2b	T	C	5: 36,476,767	I156V	probably benign	Het
Tbce	C	T	13: 14,019,742	V111M	probably damaging	Het
Tlnrd1	A	G	7: 83,882,947	L92P	probably damaging	Het
Tnr	T	A	1: 159,886,208	D735E	probably benign	Het
Tram1	T	C	1: 13,579,547	H110R	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,399,157		probably null	Het
Unc5b	C	T	10: 60,783,120	C81Y	probably damaging	Het
Vps13a	G	A	19: 16,703,789	T1041M	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
R7523:Nexn	UTSW	3	152247178	missense	probably benign	0.01
R7571:Nexn	UTSW	3	152253647	missense	possibly damaging	0.80
R8359:Nexn	UTSW	3	152248361	missense	probably damaging	0.98
R8898:Nexn	UTSW	3	152242669	missense	probably benign	0.08
R9382:Nexn	UTSW	3	152253764	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTAGCTTGGGCAAGTACAC -3'
(R):5'- ACCAGAAGGAACTGAAGTATTCTG -3'

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

Posted On

2019-10-24