Mutagenetix > Incidental Mutation

Incidental Mutation 'R1990:Nexn'

224857

Institutional Source

Beutler Lab

Gene Symbol

Nexn

Ensembl Gene

ENSMUSG00000039103

Gene Name

nexilin

Synonyms

1110046H09Rik, nF actin binding protein

Accession Numbers

Essential gene?

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

Stock #

R1990 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

151942619-151971987 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 151958576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 106 (F106I)

Ref Sequence

ENSEMBL: ENSMUSP00000142559 (fasta)

Gene Model

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

AlphaFold

Q7TPW1

Predicted Effect

probably damaging
Transcript: ENSMUST00000046045
AA Change: F42I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037120
Gene: ENSMUSG00000039103
AA Change: F42I

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 damaging
Transcript: ENSMUST00000196504
AA Change: F42I

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143180
Gene: ENSMUSG00000039103
AA Change: F42I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196529

Predicted Effect

unknown
Transcript: ENSMUST00000196815
AA Change: N15K

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197282

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197507

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198404

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199470
AA Change: F106I

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143133
Gene: ENSMUSG00000039103
AA Change: F106I

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 damaging
Transcript: ENSMUST00000198460
AA Change: F106I

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

SMART Domains

Protein: ENSMUSP00000143573
Gene: ENSMUSG00000039103
AA Change: F106I

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 damaging
Transcript: ENSMUST00000198750
AA Change: F42I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142574
Gene: ENSMUSG00000039103
AA Change: F42I

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 damaging
Transcript: ENSMUST00000198648
AA Change: F42I

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143294
Gene: ENSMUSG00000039103
AA Change: F42I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000199685
AA Change: F42I

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142569
Gene: ENSMUSG00000039103
AA Change: F42I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000199423
AA Change: F106I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142936
Gene: ENSMUSG00000039103
AA Change: F106I

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 damaging
Transcript: ENSMUST00000200589
AA Change: F106I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142559
Gene: ENSMUSG00000039103
AA Change: F106I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199752

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,771,419 (GRCm39)	R203*	probably null	Het
Acp6	T	C	3: 97,083,054 (GRCm39)	L355P	probably damaging	Het
Aebp2	T	C	6: 140,579,464 (GRCm39)	S234P	probably damaging	Het
Anapc7	A	G	5: 122,577,567 (GRCm39)	D374G	probably benign	Het
Apob	A	T	12: 8,051,039 (GRCm39)	I1088F	probably damaging	Het
Arid4b	T	C	13: 14,307,021 (GRCm39)	V92A	probably damaging	Het
Armc3	T	C	2: 19,297,953 (GRCm39)	Y575H	probably damaging	Het
Asxl2	G	T	12: 3,534,558 (GRCm39)	G252*	probably null	Het
Atl1	A	T	12: 70,010,102 (GRCm39)	K556M	probably damaging	Het
AU018091	A	G	7: 3,212,104 (GRCm39)	V206A	probably benign	Het
Bcas1	A	T	2: 170,212,397 (GRCm39)	D383E	possibly damaging	Het
Bmx	A	G	X: 163,015,192 (GRCm39)	W257R	probably benign	Het
Bpifb6	T	C	2: 153,747,270 (GRCm39)		probably null	Het
Cacna1b	G	A	2: 24,622,318 (GRCm39)	P222L	probably damaging	Het
Cand1	A	G	10: 119,045,972 (GRCm39)	S978P	probably damaging	Het
Cap2	T	A	13: 46,791,357 (GRCm39)	Y175N	possibly damaging	Het
Caps2	G	A	10: 112,036,591 (GRCm39)	A384T	probably benign	Het
Catsperg2	A	T	7: 29,420,470 (GRCm39)	Y223*	probably null	Het
Cd81	G	T	7: 142,620,938 (GRCm39)	G206*	probably null	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdkn2aip	G	T	8: 48,165,211 (GRCm39)	N167K	probably benign	Het
Ceacam14	T	A	7: 17,549,290 (GRCm39)	L227*	probably null	Het
Ceacam5	A	T	7: 17,491,805 (GRCm39)	D725V	probably damaging	Het
Cldn34a	A	T	X: 151,346,841 (GRCm39)	H171L	probably benign	Het
Col18a1	T	C	10: 76,916,988 (GRCm39)	I114V	unknown	Het
Cp	A	G	3: 20,033,177 (GRCm39)	D667G	probably damaging	Het
Cr2	G	A	1: 194,836,458 (GRCm39)	P1278S	possibly damaging	Het
Crat	A	G	2: 30,295,060 (GRCm39)	Y452H	possibly damaging	Het
Cyp4f13	T	A	17: 33,144,542 (GRCm39)	H318L	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dmbt1	A	G	7: 130,660,018 (GRCm39)	N527S	probably damaging	Het
Fcgbpl1	A	T	7: 27,853,785 (GRCm39)	D1583V	probably damaging	Het
Fgb	G	T	3: 82,951,560 (GRCm39)	Y256*	probably null	Het
Frmd3	T	A	4: 74,105,676 (GRCm39)	S441T	probably damaging	Het
Glp1r	T	A	17: 31,149,722 (GRCm39)	C329S	possibly damaging	Het
Gm14190	G	T	11: 99,581,431 (GRCm39)	Q46K	unknown	Het
Golt1b	T	A	6: 142,338,080 (GRCm39)	F17Y	probably damaging	Het
Gsdmc	A	G	15: 63,673,748 (GRCm39)	I179T	probably benign	Het
Gsdmc2	T	A	15: 63,700,086 (GRCm39)	M229L	probably benign	Het
Gulp1	A	C	1: 44,805,274 (GRCm39)	N121T	possibly damaging	Het
Ift122	T	A	6: 115,901,328 (GRCm39)	F1037I	probably damaging	Het
Ildr1	A	T	16: 36,536,568 (GRCm39)	Y199F	probably damaging	Het
Ints2	T	A	11: 86,139,760 (GRCm39)	H278L	possibly damaging	Het
Invs	T	C	4: 48,392,599 (GRCm39)	V271A	possibly damaging	Het
Kcnj2	T	C	11: 110,963,709 (GRCm39)	I367T	probably benign	Het
Kif21b	T	C	1: 136,089,508 (GRCm39)	S1115P	probably damaging	Het
Lce1k	A	T	3: 92,714,125 (GRCm39)	C20S	unknown	Het
Lcmt2	C	A	2: 120,970,762 (GRCm39)	R107L	probably benign	Het
Letm1	A	AG	5: 33,926,859 (GRCm39)		probably null	Het
Lrrc9	A	C	12: 72,544,635 (GRCm39)	R71S	probably damaging	Het
Mcc	C	A	18: 44,624,382 (GRCm39)	E213*	probably null	Het
Mis18bp1	T	C	12: 65,205,468 (GRCm39)	T235A	probably benign	Het
Mta2	C	T	19: 8,919,696 (GRCm39)		probably benign	Het
Nebl	T	A	2: 17,457,321 (GRCm39)	I80F	probably damaging	Het
Nek10	A	G	14: 14,860,764 (GRCm38)	T467A	probably benign	Het
Nrdc	T	A	4: 108,896,972 (GRCm39)	Y282*	probably null	Het
Nxf3	G	A	X: 134,976,583 (GRCm39)	P380S	possibly damaging	Het
Oma1	C	T	4: 103,178,971 (GRCm39)	T208I	probably damaging	Het
Or1a1	T	C	11: 74,086,989 (GRCm39)	V220A	probably damaging	Het
Or4c31	A	G	2: 88,291,686 (GRCm39)	M1V	probably null	Het
Or4d10c	C	A	19: 12,065,620 (GRCm39)	V179F	probably damaging	Het
Or4p21	A	G	2: 88,277,033 (GRCm39)	L83P	probably damaging	Het
Or51a42	A	T	7: 103,708,335 (GRCm39)	I158N	possibly damaging	Het
Or52l1	A	T	7: 104,830,221 (GRCm39)	C115S	probably damaging	Het
Or5p66	C	A	7: 107,885,566 (GRCm39)	G256*	probably null	Het
Or5p70	A	G	7: 107,995,041 (GRCm39)	Y238C	probably benign	Het
Panx2	A	T	15: 88,953,941 (GRCm39)	Y632F	possibly damaging	Het
Pdia4	T	C	6: 47,773,589 (GRCm39)	T587A	probably benign	Het
Piezo2	A	T	18: 63,207,733 (GRCm39)	L1426Q	probably null	Het
Pigk	T	A	3: 152,450,131 (GRCm39)	Y212N	probably damaging	Het
Pramel22	T	A	4: 143,380,838 (GRCm39)	Y395F	probably damaging	Het
Prl3b1	C	T	13: 27,429,775 (GRCm39)	T71I	possibly damaging	Het
Rab3gap1	A	G	1: 127,870,166 (GRCm39)	E929G	possibly damaging	Het
Rabl3	T	C	16: 37,384,079 (GRCm39)	I162T	probably benign	Het
Rasgrf2	T	A	13: 92,172,473 (GRCm39)	T188S	probably damaging	Het
Slc12a2	A	G	18: 58,043,358 (GRCm39)	I601V	possibly damaging	Het
Slc25a42	A	T	8: 70,644,519 (GRCm39)	I60N	probably benign	Het
Slc2a3	C	T	6: 122,713,694 (GRCm39)	G173S	probably damaging	Het
Slc46a3	G	A	5: 147,823,404 (GRCm39)	T146M	probably damaging	Het
Specc1	C	A	11: 61,920,120 (GRCm39)	P7T	possibly damaging	Het
Sptbn4	T	C	7: 27,123,235 (GRCm39)	D229G	probably benign	Het
Sspo	T	C	6: 48,427,984 (GRCm39)	I154T	probably benign	Het
Stx5a	T	C	19: 8,726,254 (GRCm39)		probably null	Het
Stxbp6	A	T	12: 44,902,640 (GRCm39)	C210*	probably null	Het
Tagap1	C	T	17: 7,224,285 (GRCm39)	R137Q	probably benign	Het
Tbc1d9	A	G	8: 83,997,932 (GRCm39)	Y1163C	probably damaging	Het
Tex14	T	G	11: 87,440,296 (GRCm39)	L1367R	probably damaging	Het
Tnnt3	C	T	7: 142,065,262 (GRCm39)	R131C	possibly damaging	Het
Tpx2	T	A	2: 152,732,544 (GRCm39)	M606K	probably benign	Het
Trim46	A	T	3: 89,145,008 (GRCm39)	Y489N	probably damaging	Het
Ttc28	C	T	5: 111,424,188 (GRCm39)	S1485L	probably benign	Het
Txnl1	T	C	18: 63,812,585 (GRCm39)	T70A	probably benign	Het
Unc80	T	C	1: 66,731,708 (GRCm39)	L3053P	probably damaging	Het
Wars1	G	T	12: 108,854,359 (GRCm39)	N18K	possibly damaging	Het
Wnt8a	A	G	18: 34,677,937 (GRCm39)	D115G	probably damaging	Het
Xndc1	T	A	7: 101,722,398 (GRCm39)	V21E	probably damaging	Het
Zfp493	T	A	13: 67,934,388 (GRCm39)	C114S	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
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'- CAGCAACATCCTGATTAGTTCTCG -3'
(R):5'- CCACCTAGATTAAAGAAATGCTTGC -3'

Sequencing Primer
(F):5'- ACATCCTGATTAGTTCTCGTTTGTTC -3'
(R):5'- AGAAATGCTTGCTTCTGATGATGAG -3'

Posted On

2014-08-25