Mutagenetix > Incidental Mutation

Incidental Mutation 'R8898:Nexn'

678156

Institutional Source

Beutler Lab

Gene Symbol

Nexn

Ensembl Gene

ENSMUSG00000039103

Gene Name

nexilin

Synonyms

1110046H09Rik, nF actin binding protein

MMRRC Submission

068755-MU

Accession Numbers

Essential gene?

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

Stock #

R8898 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

151942619-151971987 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 151948306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 483 (N483S)

Ref Sequence

ENSEMBL: ENSMUSP00000142936 (fasta)

Gene Model

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

AlphaFold

Q7TPW1

Predicted Effect

probably benign
Transcript: ENSMUST00000046045
AA Change: N419S

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000037120
Gene: ENSMUSG00000039103
AA Change: N419S

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: ENSMUST00000198460
AA Change: N406S

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143573
Gene: ENSMUSG00000039103
AA Change: N406S

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: ENSMUST00000198750

SMART Domains

Protein: ENSMUSP00000142574
Gene: ENSMUSG00000039103

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: N483S

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000142936
Gene: ENSMUSG00000039103
AA Change: N483S

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: N349S

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143133
Gene: ENSMUSG00000039103
AA Change: N349S

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: ENSMUST00000200589

SMART Domains

Protein: ENSMUSP00000142559
Gene: ENSMUSG00000039103

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

0.1114

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,383,001 (GRCm39)	L988*	probably null	Het
4930546C10Rik	A	G	18: 69,083,106 (GRCm39)	F36S	unknown	Het
Acan	C	A	7: 78,750,101 (GRCm39)	T1624K	possibly damaging	Het
Ambn	T	C	5: 88,613,051 (GRCm39)		probably null	Het
Ankrd24	T	C	10: 81,478,352 (GRCm39)	I437T	unknown	Het
Arl4d	C	T	11: 101,557,827 (GRCm39)	R118W	probably damaging	Het
Atg2a	A	G	19: 6,306,721 (GRCm39)		probably benign	Het
Bcan	T	C	3: 87,895,695 (GRCm39)	T814A	probably benign	Het
Brca2	T	A	5: 150,492,498 (GRCm39)	M3171K	possibly damaging	Het
Cd209a	T	A	8: 3,798,739 (GRCm39)	S23C	probably damaging	Het
Chek2	A	T	5: 111,011,175 (GRCm39)	K324N	probably benign	Het
Col12a1	C	T	9: 79,599,577 (GRCm39)	V859I	probably benign	Het
Cyp7b1	C	T	3: 18,150,788 (GRCm39)	R317H	probably benign	Het
Dmxl2	A	G	9: 54,308,941 (GRCm39)	S1937P	probably benign	Het
Epb41l1	T	G	2: 156,335,869 (GRCm39)	V11G	probably damaging	Het
Ephb6	C	T	6: 41,590,293 (GRCm39)	A15V	probably benign	Het
Fat3	G	A	9: 15,858,822 (GRCm39)	P3798L	probably benign	Het
Foxd1	T	A	13: 98,491,596 (GRCm39)	C157S	probably damaging	Het
Gja10	T	C	4: 32,601,058 (GRCm39)	Q442R	probably benign	Het
Gm17019	A	C	5: 15,081,798 (GRCm39)	M47R	possibly damaging	Het
Gpr179	C	A	11: 97,242,329 (GRCm39)	E172*	probably null	Het
Grhl1	G	A	12: 24,634,945 (GRCm39)		probably null	Het
Gtf2ird2	A	T	5: 134,226,106 (GRCm39)	E184V	probably benign	Het
Hace1	A	G	10: 45,576,766 (GRCm39)	I813V	probably benign	Het
Hk2	A	T	6: 82,715,379 (GRCm39)	L385Q	probably damaging	Het
Htt	C	T	5: 34,976,376 (GRCm39)	T726I	probably benign	Het
Itga8	T	C	2: 12,145,206 (GRCm39)	S916G	probably benign	Het
Jag1	A	T	2: 136,935,175 (GRCm39)	F396I	probably damaging	Het
Kif16b	A	G	2: 142,554,899 (GRCm39)	M633T	possibly damaging	Het
Klf5	T	A	14: 99,538,922 (GRCm39)	F112I	probably damaging	Het
Lama1	A	T	17: 68,128,610 (GRCm39)	Q2989L		Het
Lrrc28	C	A	7: 67,278,042 (GRCm39)		probably null	Het
Map4k5	T	C	12: 69,859,931 (GRCm39)	T739A	possibly damaging	Het
Mbd3l2	A	T	9: 18,355,914 (GRCm39)	R80*	probably null	Het
Mctp2	T	C	7: 71,752,904 (GRCm39)	E783G	probably damaging	Het
Mill2	A	T	7: 18,590,489 (GRCm39)	M190L	probably benign	Het
N4bp3	T	C	11: 51,535,256 (GRCm39)	N311S	probably benign	Het
Nanos2	A	T	7: 18,721,549 (GRCm39)	D7V	probably damaging	Het
Ndufs7	T	A	10: 80,089,619 (GRCm39)		probably null	Het
Nlrp1b	T	G	11: 71,073,288 (GRCm39)	E185A	probably damaging	Het
Nop2	C	A	6: 125,114,118 (GRCm39)	Q195K	probably benign	Het
Or4a15	A	G	2: 89,192,957 (GRCm39)	V272A	possibly damaging	Het
Or4n4	G	A	14: 50,518,952 (GRCm39)	P253S	probably damaging	Het
Pde12	G	A	14: 26,390,577 (GRCm39)	S44L	probably benign	Het
Pde1c	A	T	6: 56,114,371 (GRCm39)	V514E	probably damaging	Het
Pdzph1	A	T	17: 59,281,334 (GRCm39)	V316D	probably benign	Het
Prl3c1	A	T	13: 27,387,578 (GRCm39)	I208F	possibly damaging	Het
Raver2	G	A	4: 100,964,399 (GRCm39)		probably null	Het
Rpl13a-ps1	T	A	19: 50,018,747 (GRCm39)	H143L	probably benign	Het
Septin14	A	T	5: 129,760,642 (GRCm39)	I402K	possibly damaging	Het
Sla2	T	A	2: 156,717,885 (GRCm39)	Y129F	possibly damaging	Het
Smarca2	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCA	19: 26,608,358 (GRCm39)		probably benign	Het
Sorl1	A	G	9: 41,911,567 (GRCm39)	S1448P	probably damaging	Het
Spast	G	A	17: 74,695,273 (GRCm39)	R604H	probably damaging	Het
Speg	G	A	1: 75,365,517 (GRCm39)	G633S	probably damaging	Het
Stxbp5l	ATTTT	ATTTTT	16: 37,036,414 (GRCm39)		probably null	Het
Syt11	T	C	3: 88,669,335 (GRCm39)	M186V	probably benign	Het
Tex26	C	A	5: 149,380,369 (GRCm39)	N133K	probably benign	Het
Tnfrsf17	T	C	16: 11,131,910 (GRCm39)	C32R	probably damaging	Het
Trem1	T	A	17: 48,544,374 (GRCm39)	V133E	probably damaging	Het
Trpm7	A	T	2: 126,664,661 (GRCm39)	M906K	possibly damaging	Het
Ugt2b35	T	A	5: 87,159,189 (GRCm39)	I461K	possibly damaging	Het
Vmn2r77	T	A	7: 86,444,430 (GRCm39)	C28S	probably damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het
Zfp790	C	T	7: 29,522,525 (GRCm39)		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
R0540:Nexn	UTSW	3	151,953,879 (GRCm39)	nonsense	probably null
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
R9382:Nexn	UTSW	3	151,959,401 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTTGACCAACTATCACCC -3'
(R):5'- TCCAGGCATCTGCTTCGTTG -3'

Sequencing Primer
(F):5'- TGACCAACTATCACCCTGATTTAC -3'
(R):5'- TTCCTCACACACAGAAATTAAGAGGG -3'

Posted On

2021-08-02