Mutagenetix > Incidental Mutation

Incidental Mutation 'R5502:Nexn'

430653

Institutional Source

Beutler Lab

Gene Symbol

Nexn

Ensembl Gene

ENSMUSG00000039103

Gene Name

nexilin

Synonyms

1110046H09Rik, nF actin binding protein

MMRRC Submission

043063-MU

Accession Numbers

Essential gene?

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

Stock #

R5502 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

151942619-151971987 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 151943941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 331 (E331D)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046045] [ENSMUST00000106121] [ENSMUST00000166984] [ENSMUST00000198460] [ENSMUST00000199423] [ENSMUST00000199470] [ENSMUST00000200452] [ENSMUST00000199876]

AlphaFold

Q7TPW1

Predicted Effect

probably benign
Transcript: ENSMUST00000046045
AA Change: E465D

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000037120
Gene: ENSMUSG00000039103
AA Change: E465D

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: ENSMUST00000106121

SMART Domains

Protein: ENSMUSP00000101727
Gene: ENSMUSG00000028034

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
PDB:2KXH\|B	24	48	3e-8	PDB
KH	94	164	1.09e-17	SMART
KH	179	251	2.33e-17	SMART
KH	269	339	1.32e-16	SMART
low complexity region	344	366	N/A	INTRINSIC
KH	370	443	1.19e-14	SMART
low complexity region	513	527	N/A	INTRINSIC
low complexity region	530	556	N/A	INTRINSIC
Pfam:DUF1897	571	599	1.3e-7	PFAM
Pfam:DUF1897	600	624	1.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166984

SMART Domains

Protein: ENSMUSP00000130145
Gene: ENSMUSG00000028034

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
PDB:2KXH\|B	24	48	3e-8	PDB
KH	94	164	1.09e-17	SMART
KH	179	251	2.33e-17	SMART
KH	269	339	1.32e-16	SMART
low complexity region	344	366	N/A	INTRINSIC
KH	370	443	1.19e-14	SMART
low complexity region	513	527	N/A	INTRINSIC
low complexity region	530	556	N/A	INTRINSIC
Pfam:DUF1897	570	598	2e-7	PFAM
Pfam:DUF1897	599	631	9.2e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000196529
AA Change: E331D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198460
AA Change: E452D

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143573
Gene: ENSMUSG00000039103
AA Change: E452D

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

noncoding transcript
Transcript: ENSMUST00000198539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199983

Predicted Effect

probably benign
Transcript: ENSMUST00000199423
AA Change: E529D

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000142936
Gene: ENSMUSG00000039103
AA Change: E529D

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

possibly damaging
Transcript: ENSMUST00000199470
AA Change: E395D

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143133
Gene: ENSMUSG00000039103
AA Change: E395D

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: ENSMUST00000200056

Predicted Effect

probably benign
Transcript: ENSMUST00000200452

SMART Domains

Protein: ENSMUSP00000143019
Gene: ENSMUSG00000028034

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
PDB:2KXH\|B	24	48	3e-8	PDB
KH	94	164	1.09e-17	SMART
KH	179	251	2.33e-17	SMART
KH	269	339	1.32e-16	SMART
low complexity region	344	366	N/A	INTRINSIC
KH	370	443	1.19e-14	SMART
low complexity region	513	527	N/A	INTRINSIC
low complexity region	530	556	N/A	INTRINSIC
Pfam:DUF1897	570	598	2e-7	PFAM
Pfam:DUF1897	599	631	9.2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199876

SMART Domains

Protein: ENSMUSP00000143618
Gene: ENSMUSG00000028034

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
PDB:2KXH\|B	24	48	3e-8	PDB
KH	95	165	1.09e-17	SMART
KH	180	252	2.33e-17	SMART
KH	270	340	1.32e-16	SMART
low complexity region	345	367	N/A	INTRINSIC
KH	371	444	1.19e-14	SMART
low complexity region	514	528	N/A	INTRINSIC
low complexity region	531	557	N/A	INTRINSIC
Pfam:DUF1897	572	600	1.5e-7	PFAM
Pfam:DUF1897	601	625	1.5e-9	PFAM
transmembrane domain	654	676	N/A	INTRINSIC

Meta Mutation Damage Score

0.0607

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.0%
20x: 90.2%

Validation Efficiency

98% (84/86)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abcc8	A	G	7: 45,758,262 (GRCm39)	I1268T	probably benign	Het
Accsl	C	T	2: 93,687,289 (GRCm39)		probably null	Het
Actmap	A	G	7: 26,896,542 (GRCm39)	D35G	possibly damaging	Het
Ank3	A	T	10: 69,756,291 (GRCm39)	I842F	probably benign	Het
Bbs9	T	A	9: 22,415,370 (GRCm39)	L98Q	probably damaging	Het
Bin2	A	G	15: 100,543,286 (GRCm39)	V299A	probably benign	Het
Cabp4	G	A	19: 4,181,228 (GRCm39)		probably benign	Het
Ces2f	A	T	8: 105,679,155 (GRCm39)	H324L	possibly damaging	Het
Chd4	G	A	6: 125,082,239 (GRCm39)	R576Q	possibly damaging	Het
Cndp1	A	G	18: 84,650,138 (GRCm39)	V185A	possibly damaging	Het
Cntn3	A	C	6: 102,242,295 (GRCm39)	V450G	possibly damaging	Het
Col5a2	C	A	1: 45,419,286 (GRCm39)	G1265W	probably damaging	Het
Corin	G	A	5: 72,473,449 (GRCm39)	Q754*	probably null	Het
Cyp4a10	A	G	4: 115,382,702 (GRCm39)	N291S	probably benign	Het
Dap3	T	C	3: 88,832,633 (GRCm39)	Y353C	probably damaging	Het
Disp1	A	G	1: 182,869,450 (GRCm39)	V990A	probably damaging	Het
Dock9	A	T	14: 121,847,594 (GRCm39)		probably null	Het
Dop1b	T	A	16: 93,590,114 (GRCm39)	V179E	probably benign	Het
Eps15l1	A	T	8: 73,132,836 (GRCm39)		probably null	Het
Fyb2	A	T	4: 104,802,521 (GRCm39)	Q141L	probably damaging	Het
Gemin4	A	T	11: 76,104,227 (GRCm39)	L178*	probably null	Het
Gm15446	A	T	5: 110,088,364 (GRCm39)	K25*	probably null	Het
Gm17067	A	T	7: 42,357,843 (GRCm39)	C220S	probably damaging	Het
Gm4868	A	G	5: 125,925,042 (GRCm39)		noncoding transcript	Het
Golga4	GT	GTT	9: 118,388,125 (GRCm39)		probably null	Het
Gria2	T	C	3: 80,614,252 (GRCm39)	N596S	probably damaging	Het
Hoxb4	A	G	11: 96,211,057 (GRCm39)	D219G	probably damaging	Het
Htr1b	T	A	9: 81,513,854 (GRCm39)	Q251L	possibly damaging	Het
Ibtk	A	C	9: 85,602,916 (GRCm39)	S696R	probably benign	Het
Ide	C	A	19: 37,307,855 (GRCm39)	K52N	unknown	Het
Incenp	C	A	19: 9,870,728 (GRCm39)	L300F	unknown	Het
Ino80	T	C	2: 119,232,877 (GRCm39)	Y1147C	probably damaging	Het
Mme	T	A	3: 63,207,702 (GRCm39)	Y49*	probably null	Het
Mmp15	A	T	8: 96,094,812 (GRCm39)	T229S	possibly damaging	Het
Mtmr4	A	T	11: 87,504,904 (GRCm39)	N1133I	probably damaging	Het
Mycbp2	C	T	14: 103,411,250 (GRCm39)	G284R	probably damaging	Het
Myo3a	T	C	2: 22,448,381 (GRCm39)	I52T	probably damaging	Het
Nat8f5	G	T	6: 85,794,635 (GRCm39)	F108L	probably damaging	Het
Nbeal1	T	A	1: 60,350,158 (GRCm39)	H2402Q	probably damaging	Het
Nktr	C	T	9: 121,577,672 (GRCm39)		probably benign	Het
Oaz3	T	C	3: 94,342,392 (GRCm39)	D88G	probably damaging	Het
Or1n1	T	C	2: 36,750,282 (GRCm39)	Y26C	probably damaging	Het
Or4l1	A	G	14: 50,166,993 (GRCm39)	Y3H	probably benign	Het
Pcdhb9	A	T	18: 37,534,656 (GRCm39)	T217S	possibly damaging	Het
Pcdhga2	A	T	18: 37,803,605 (GRCm39)	D483V	possibly damaging	Het
Pde5a	G	T	3: 122,596,681 (GRCm39)	G456V	probably damaging	Het
Qser1	T	C	2: 104,616,919 (GRCm39)	T1298A	probably benign	Het
Rapgef5	T	C	12: 117,685,064 (GRCm39)	V303A	probably damaging	Het
Rbbp6	T	G	7: 122,587,947 (GRCm39)	M267R	probably damaging	Het
Rfx8	C	A	1: 39,722,113 (GRCm39)	V291F	probably damaging	Het
Rnf121	T	C	7: 101,672,555 (GRCm39)	K276R	probably null	Het
Rtca	G	T	3: 116,282,931 (GRCm39)	Y352*	probably null	Het
Rusf1	C	T	7: 127,884,308 (GRCm39)	V225M	probably damaging	Het
Sacs	T	C	14: 61,443,549 (GRCm39)	V1865A	probably damaging	Het
Sclt1	C	T	3: 41,611,710 (GRCm39)	E521K	probably benign	Het
Setd1a	T	C	7: 127,396,420 (GRCm39)		probably null	Het
Slc37a4	G	T	9: 44,313,394 (GRCm39)	V337L	probably benign	Het
Slc5a9	G	T	4: 111,750,366 (GRCm39)	S79*	probably null	Het
Snrpd2	T	C	7: 18,885,247 (GRCm39)	V36A	probably benign	Het
Spata31d1b	A	T	13: 59,864,486 (GRCm39)	N545Y	probably damaging	Het
Sstr4	CGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	2: 148,237,471 (GRCm39)		probably benign	Het
St7	G	A	6: 17,834,673 (GRCm39)	V98I	possibly damaging	Het
Strip2	A	T	6: 29,927,623 (GRCm39)	I223F	probably benign	Het
Syn2	A	C	6: 115,255,313 (GRCm39)	N542H	possibly damaging	Het
Tbc1d2b	T	C	9: 90,109,496 (GRCm39)	T327A	probably benign	Het
Timm44	A	T	8: 4,319,992 (GRCm39)	F59I	possibly damaging	Het
Tmem41b	A	T	7: 109,581,970 (GRCm39)	C44*	probably null	Het
Tob1	ACAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCA	11: 94,105,278 (GRCm39)		probably benign	Het
Tusc3	A	T	8: 39,597,947 (GRCm39)	K188*	probably null	Het
Usp39	T	A	6: 72,305,670 (GRCm39)	Q371L	probably benign	Het
Vmn2r13	G	T	5: 109,321,580 (GRCm39)	N372K	probably damaging	Het
Zfp961	T	A	8: 72,721,903 (GRCm39)	Y139N	probably damaging	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
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'- CAGAAAAGAGCAAGTTTACTGCC -3'
(R):5'- TTTCCTGAAAACCTGAACAGCTAC -3'

Sequencing Primer
(F):5'- GAGCAAGTTTACTGCCTAAACCGTTC -3'
(R):5'- ATCATGAACACATCAATTTCTTGGC -3'

Posted On

2016-10-05