Mutagenetix > Incidental Mutation

Incidental Mutation 'R1501:Nexn'

169246

Institutional Source

Beutler Lab

Gene Symbol

Nexn

Ensembl Gene

ENSMUSG00000039103

Gene Name

nexilin

Synonyms

1110046H09Rik, nF actin binding protein

MMRRC Submission

040867-MU

Accession Numbers

Essential gene?

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

Stock #

R1501 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

151942619-151971987 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 151943323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 527 (T527A)

Ref Sequence

ENSEMBL: ENSMUSP00000143133 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046045] [ENSMUST00000106121] [ENSMUST00000166984] [ENSMUST00000196695] [ENSMUST00000196739] [ENSMUST00000199470] [ENSMUST00000199423] [ENSMUST00000198460] [ENSMUST00000200452] [ENSMUST00000199876] [ENSMUST00000200524]

AlphaFold

Q7TPW1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046045
AA Change: T597A

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037120
Gene: ENSMUSG00000039103
AA Change: T597A

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

unknown
Transcript: ENSMUST00000196529
AA Change: T463A

Predicted Effect

probably benign
Transcript: ENSMUST00000196695

SMART Domains

Protein: ENSMUSP00000143729
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	7e-20	SMART
KH	180	252	1.5e-19	SMART
KH	270	340	8.2e-19	SMART
low complexity region	345	367	N/A	INTRINSIC
KH	371	444	7.3e-17	SMART
low complexity region	514	528	N/A	INTRINSIC
low complexity region	531	557	N/A	INTRINSIC
Pfam:DUF1897	572	600	1.1e-4	PFAM
Pfam:DUF1897	601	625	1.1e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196739

SMART Domains

Protein: ENSMUSP00000143101
Gene: ENSMUSG00000028034

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
PDB:2KXH\|B	24	48	2e-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	568	596	1e-7	PFAM
Pfam:DUF1897	597	629	4.7e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198405

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199470
AA Change: T527A

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143133
Gene: ENSMUSG00000039103
AA Change: T527A

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

possibly damaging
Transcript: ENSMUST00000199423
AA Change: T661A

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000142936
Gene: ENSMUSG00000039103
AA Change: T661A

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: ENSMUST00000198460
AA Change: T584A

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000143573
Gene: ENSMUSG00000039103
AA Change: T584A

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: ENSMUST00000199983

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

Predicted Effect

probably benign
Transcript: ENSMUST00000200524

SMART Domains

Protein: ENSMUSP00000143354
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	6.9e-20	SMART
KH	180	252	1.5e-19	SMART
KH	270	340	8.1e-19	SMART
low complexity region	345	367	N/A	INTRINSIC
KH	371	444	7.2e-17	SMART
low complexity region	514	528	N/A	INTRINSIC
low complexity region	531	557	N/A	INTRINSIC
Pfam:DUF1897	571	599	1.5e-4	PFAM
Pfam:DUF1897	600	632	7e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199918

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	T	14: 78,750,787 (GRCm39)	S533R	probably benign	Het
Amph	C	T	13: 19,288,461 (GRCm39)	Q317*	probably null	Het
Bach2	A	G	4: 32,562,279 (GRCm39)	T249A	possibly damaging	Het
Cacna2d3	A	G	14: 28,703,137 (GRCm39)	C845R	probably damaging	Het
Calml4	A	G	9: 62,778,622 (GRCm39)	K12E	probably benign	Het
Chrd	C	T	16: 20,556,283 (GRCm39)	R615W	probably damaging	Het
Chst15	T	A	7: 131,870,798 (GRCm39)	K246*	probably null	Het
Cmtr2	G	A	8: 110,948,235 (GRCm39)	D182N	probably benign	Het
Cyp2d9	C	A	15: 82,338,525 (GRCm39)	C186*	probably null	Het
Cyp3a13	G	T	5: 137,909,892 (GRCm39)		probably null	Het
Dcaf17	A	T	2: 70,912,332 (GRCm39)	I320F	probably damaging	Het
Ddx10	T	C	9: 53,145,297 (GRCm39)	I227V	possibly damaging	Het
Dlc1	G	T	8: 37,405,302 (GRCm39)	N162K	probably benign	Het
Dnhd1	G	A	7: 105,317,670 (GRCm39)	R455H	probably benign	Het
Drg2	G	T	11: 60,355,679 (GRCm39)	A306S	probably benign	Het
Dsg1a	A	T	18: 20,465,076 (GRCm39)	R422S	probably damaging	Het
Ehbp1l1	A	G	19: 5,766,452 (GRCm39)	V353A	probably damaging	Het
Emilin2	T	C	17: 71,617,756 (GRCm39)	S34G	probably benign	Het
Enpp2	C	A	15: 54,702,910 (GRCm39)	W862L	probably damaging	Het
Exoc2	T	C	13: 31,119,485 (GRCm39)	I139V	probably benign	Het
Fhad1	C	T	4: 141,691,936 (GRCm39)	R400H	probably benign	Het
Fv1	C	T	4: 147,954,595 (GRCm39)	T387M	probably damaging	Het
Gatad1	T	A	5: 3,693,701 (GRCm39)	D156V	probably damaging	Het
Gm4744	A	G	6: 40,927,367 (GRCm39)		probably benign	Het
Gm4799	G	A	10: 82,790,469 (GRCm39)		noncoding transcript	Het
Hadha	A	G	5: 30,333,804 (GRCm39)	F405S	probably benign	Het
Ifit3	T	C	19: 34,565,651 (GRCm39)	V399A	probably benign	Het
Il1rapl1	G	T	X: 86,348,469 (GRCm39)	Y150*	probably null	Het
Kirrel1	T	C	3: 86,997,779 (GRCm39)	E248G	probably benign	Het
Krt72	C	A	15: 101,686,769 (GRCm39)	K392N	probably damaging	Het
Loxhd1	G	A	18: 77,444,528 (GRCm39)	G309D	probably damaging	Het
Mc3r	T	G	2: 172,091,300 (GRCm39)	I174S	probably benign	Het
Me3	A	G	7: 89,282,273 (GRCm39)	D52G	probably benign	Het
Med12l	T	C	3: 59,168,256 (GRCm39)		probably null	Het
Mgat5	G	A	1: 127,325,378 (GRCm39)		probably null	Het
Mphosph10	A	T	7: 64,039,252 (GRCm39)	F239L	probably damaging	Het
Mrps7	T	C	11: 115,495,023 (GRCm39)	S13P	probably benign	Het
Nlrp1b	G	A	11: 71,046,885 (GRCm39)	H1156Y	probably damaging	Het
Nostrin	A	G	2: 68,989,129 (GRCm39)	E120G	probably damaging	Het
Nsun2	A	G	13: 69,779,706 (GRCm39)	E624G	probably damaging	Het
Oga	T	C	19: 45,767,079 (GRCm39)	D99G	probably null	Het
Or4c102	G	A	2: 88,422,492 (GRCm39)	V115I	possibly damaging	Het
Or4k2	A	G	14: 50,424,539 (GRCm39)	I45T	probably damaging	Het
Or52n4b	G	A	7: 108,143,782 (GRCm39)	V15I	probably benign	Het
Or5p70	A	C	7: 107,995,289 (GRCm39)	K321Q	probably benign	Het
Phldb2	T	C	16: 45,598,146 (GRCm39)	N802S	probably damaging	Het
Pik3c2g	T	C	6: 139,789,796 (GRCm39)		probably null	Het
Pikfyve	T	A	1: 65,304,443 (GRCm39)	I1670N	possibly damaging	Het
Pld5	A	G	1: 175,803,087 (GRCm39)	F393L	probably benign	Het
Plekhg1	C	A	10: 3,907,361 (GRCm39)	D759E	probably benign	Het
Plekhm1	A	G	11: 103,277,888 (GRCm39)	S403P	probably benign	Het
Pop1	T	C	15: 34,510,503 (GRCm39)	F432L	probably benign	Het
Ptpn13	T	C	5: 103,664,230 (GRCm39)	I406T	probably benign	Het
Ptpn5	G	T	7: 46,739,623 (GRCm39)	D185E	probably benign	Het
Rad50	G	T	11: 53,578,978 (GRCm39)	Q527K	possibly damaging	Het
Scn7a	A	G	2: 66,530,507 (GRCm39)	F613L	probably benign	Het
Sec16a	T	A	2: 26,330,057 (GRCm39)	M653L	probably benign	Het
Sh3bp2	T	C	5: 34,712,920 (GRCm39)		probably null	Het
Slc22a3	G	A	17: 12,725,991 (GRCm39)	T74I	probably benign	Het
Slc23a4	A	G	6: 34,932,057 (GRCm39)	L272P	probably damaging	Het
Slc26a8	T	C	17: 28,857,536 (GRCm39)	D869G	possibly damaging	Het
Slc5a11	T	A	7: 122,859,731 (GRCm39)	V291E	probably damaging	Het
Slc6a19	C	A	13: 73,832,167 (GRCm39)	A470S	probably benign	Het
Slfn8	A	G	11: 82,894,006 (GRCm39)	S878P	probably damaging	Het
Smchd1	A	G	17: 71,672,089 (GRCm39)	M1655T	possibly damaging	Het
Srgap2	A	G	1: 131,220,437 (GRCm39)	L179P	probably damaging	Het
Tbx2	A	G	11: 85,725,622 (GRCm39)	D191G	probably damaging	Het
Tenm3	A	G	8: 48,796,351 (GRCm39)	Y485H	probably damaging	Het
Trim12c	T	A	7: 103,990,095 (GRCm39)		probably benign	Het
Trpc6	A	G	9: 8,610,170 (GRCm39)	T213A	probably damaging	Het
Upp1	T	A	11: 9,084,708 (GRCm39)		probably null	Het
Vmn1r46	A	T	6: 89,953,198 (GRCm39)	I16L	probably benign	Het
Vmn2r75	A	T	7: 85,814,850 (GRCm39)	D214E	possibly damaging	Het
Vmn2r95	T	A	17: 18,660,118 (GRCm39)	Y177N	probably damaging	Het
Vmn2r99	T	G	17: 19,582,521 (GRCm39)	I42S	possibly damaging	Het
Zeb1	A	T	18: 5,761,399 (GRCm39)	K232N	possibly damaging	Het
Zfp280b	T	C	10: 75,875,603 (GRCm39)	I494T	probably damaging	Het
Zfp804a	A	G	2: 82,066,143 (GRCm39)	D38G	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
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'- TGCTTTGACTTTGCACAGCATGG -3'
(R):5'- ACCCAAGCCGGAAATTACATGGTG -3'

Sequencing Primer
(F):5'- AAGTCAGTTATAGTGGCACCTCTG -3'
(R):5'- CCGGAAATTACATGGTGGTTTGAAG -3'

Posted On

2014-04-13