Mutagenetix > Incidental Mutation

Incidental Mutation 'R2035:Syne3'

224517

Institutional Source

Beutler Lab

Gene Symbol

Syne3

Ensembl Gene

ENSMUSG00000054150

Gene Name

spectrin repeat containing, nuclear envelope family member 3

Synonyms

4831426I19Rik, nesprin-3beta, nesprin-3alpha, nesprin-3

MMRRC Submission

040042-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2035 (G1)

Quality Score

186

Status

Not validated

Chromosome

Chromosomal Location

104896192-104976068 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104924386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 338 (M338V)

Ref Sequence

ENSEMBL: ENSMUSP00000105553 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067005] [ENSMUST00000095439] [ENSMUST00000109927]

AlphaFold

Q4FZC9

Predicted Effect

probably benign
Transcript: ENSMUST00000067005
AA Change: M338V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000065771
Gene: ENSMUSG00000054150
AA Change: M338V

Domain	Start	End	E-Value	Type
Blast:SPEC	29	127	8e-24	BLAST
SPEC	136	237	1.01e-1	SMART
Blast:SPEC	252	446	9e-55	BLAST
low complexity region	447	459	N/A	INTRINSIC
low complexity region	495	514	N/A	INTRINSIC
SPEC	563	664	1.74e-1	SMART
Blast:SPEC	722	818	1e-12	BLAST
KASH	832	888	7.52e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095439
AA Change: M425V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000093090
Gene: ENSMUSG00000054150
AA Change: M425V

Domain	Start	End	E-Value	Type
SPEC	7	109	1.22e-1	SMART
SPEC	223	324	1.01e-1	SMART
Blast:SPEC	339	533	2e-54	BLAST
low complexity region	534	546	N/A	INTRINSIC
low complexity region	582	601	N/A	INTRINSIC
SPEC	650	751	1.74e-1	SMART
Blast:SPEC	809	905	1e-12	BLAST
KASH	919	975	7.52e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109927
AA Change: M338V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000105553
Gene: ENSMUSG00000054150
AA Change: M338V

Domain	Start	End	E-Value	Type
Blast:SPEC	29	127	8e-24	BLAST
SPEC	136	237	1.01e-1	SMART
Blast:SPEC	252	446	9e-55	BLAST
low complexity region	447	459	N/A	INTRINSIC
low complexity region	495	514	N/A	INTRINSIC
SPEC	563	664	1.74e-1	SMART
Blast:SPEC	722	818	1e-12	BLAST
KASH	832	888	7.52e-24	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,760,761 (GRCm39)	*1273Q	probably null	Het
Aars2	A	G	17: 45,825,727 (GRCm39)	I348V	possibly damaging	Het
Abca8b	G	A	11: 109,847,932 (GRCm39)	R788C	possibly damaging	Het
Abhd15	T	C	11: 77,406,536 (GRCm39)	L171P	probably damaging	Het
Abi3bp	A	T	16: 56,480,581 (GRCm39)	H686L	probably benign	Het
Acsl1	A	G	8: 46,981,621 (GRCm39)	Y456C	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Ash1l	T	A	3: 88,973,624 (GRCm39)	V2561D	probably benign	Het
B3galnt2	T	A	13: 14,140,909 (GRCm39)	F44I	probably benign	Het
Bicra	A	T	7: 15,730,338 (GRCm39)	H24Q	possibly damaging	Het
Ccdc163	T	C	4: 116,568,530 (GRCm39)	S195P	probably damaging	Het
Cd163	A	T	6: 124,297,588 (GRCm39)	K911N	probably damaging	Het
Clcn3	A	T	8: 61,387,632 (GRCm39)	S179T	probably damaging	Het
Dctn4	T	A	18: 60,671,489 (GRCm39)	D120E	possibly damaging	Het
Dnali1	C	T	4: 124,952,903 (GRCm39)	V207M	probably damaging	Het
Dnhd1	A	G	7: 105,354,128 (GRCm39)	Q3036R	probably damaging	Het
Dst	G	A	1: 34,310,494 (GRCm39)	R4098H	probably damaging	Het
Eml5	A	T	12: 98,760,525 (GRCm39)	N1741K	probably benign	Het
Enah	G	A	1: 181,749,537 (GRCm39)	P415L	probably damaging	Het
Entr1	T	A	2: 26,273,639 (GRCm39)	S374C	probably damaging	Het
Ess2	A	G	16: 17,727,950 (GRCm39)		probably null	Het
F8	ATCTCTCTC	ATCTCTC	X: 74,366,604 (GRCm39)		probably null	Het
Gm4841	T	G	18: 60,402,929 (GRCm39)	Y388S	probably benign	Het
Grin3a	T	C	4: 49,771,336 (GRCm39)	T479A	probably damaging	Het
Gucy2e	C	A	11: 69,118,358 (GRCm39)	V743L	probably benign	Het
Il33	T	A	19: 29,932,037 (GRCm39)	N143K	probably damaging	Het
Ism1	T	A	2: 139,599,075 (GRCm39)	S349R	probably damaging	Het
Itgb2	T	A	10: 77,383,033 (GRCm39)	D134E	probably damaging	Het
Kcnk1	A	C	8: 126,752,108 (GRCm39)	N238T	possibly damaging	Het
Kcnu1	G	T	8: 26,386,721 (GRCm39)	V535L	probably benign	Het
Muc19	T	A	15: 91,776,599 (GRCm39)		noncoding transcript	Het
Mycbp2	A	T	14: 103,497,675 (GRCm39)	Y966N	probably damaging	Het
Myo19	A	T	11: 84,788,434 (GRCm39)	M349L	probably benign	Het
Narf	G	A	11: 121,129,326 (GRCm39)	A37T	probably benign	Het
Ncapd2	T	C	6: 125,161,491 (GRCm39)	N208D	probably benign	Het
Nr1i2	A	G	16: 38,071,488 (GRCm39)		probably null	Het
Opn5	A	G	17: 42,918,052 (GRCm39)	I70T	probably damaging	Het
Or52e19	T	A	7: 102,959,463 (GRCm39)	H178Q	probably damaging	Het
Or7a38	T	C	10: 78,753,421 (GRCm39)	V249A	possibly damaging	Het
Pkn2	G	T	3: 142,526,348 (GRCm39)	P410T	probably damaging	Het
Pla2r1	T	C	2: 60,253,080 (GRCm39)	N1337S	probably damaging	Het
Prkd3	A	T	17: 79,282,802 (GRCm39)		probably null	Het
Pum2	T	A	12: 8,778,638 (GRCm39)	Y429*	probably null	Het
Resf1	G	A	6: 149,230,724 (GRCm39)	V1257I	possibly damaging	Het
Rttn	T	A	18: 89,038,340 (GRCm39)	V812E	probably damaging	Het
Rufy2	T	A	10: 62,842,526 (GRCm39)	L483H	probably damaging	Het
Slc35a3	T	A	3: 116,480,972 (GRCm39)	Q97L	probably damaging	Het
St18	A	T	1: 6,872,552 (GRCm39)	M96L	probably benign	Het
Strc	G	A	2: 121,205,415 (GRCm39)	A905V	probably damaging	Het
Syngr2	A	G	11: 117,704,186 (GRCm39)	D187G	probably benign	Het
Tas2r109	A	C	6: 132,957,423 (GRCm39)	I169R	probably benign	Het
Tbc1d22a	T	A	15: 86,275,266 (GRCm39)		probably null	Het
Thbs1	T	A	2: 117,948,821 (GRCm39)		probably null	Het
Them6	C	A	15: 74,593,524 (GRCm39)	D127E	probably damaging	Het
Tmem132d	T	C	5: 127,869,522 (GRCm39)	D604G	probably damaging	Het
Tnni1	A	G	1: 135,733,330 (GRCm39)	T51A	probably benign	Het
Topors	T	C	4: 40,262,879 (GRCm39)	N135S	probably damaging	Het
Unc80	A	T	1: 66,645,752 (GRCm39)	D1476V	probably damaging	Het
Vmn1r17	A	G	6: 57,337,573 (GRCm39)	V264A	probably benign	Het
Vmn1r193	T	A	13: 22,403,732 (GRCm39)	T87S	probably benign	Het
Vmn1r202	C	A	13: 22,685,772 (GRCm39)	R215L	probably damaging	Het
Vmn2r24	A	T	6: 123,793,019 (GRCm39)	N782I	probably damaging	Het
Vmn2r53	A	G	7: 12,332,438 (GRCm39)	F404L	possibly damaging	Het
Xpo4	A	T	14: 57,823,383 (GRCm39)	C1036S	possibly damaging	Het
Yae1d1	T	C	13: 18,164,306 (GRCm39)	N104D	probably benign	Het
Zan	C	A	5: 137,442,209 (GRCm39)	R1901L	unknown	Het
Zbtb9	G	A	17: 27,193,897 (GRCm39)	R434H	probably damaging	Het
Zdhhc23	A	C	16: 43,793,871 (GRCm39)	C268G	probably damaging	Het

Other mutations in Syne3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01154:Syne3	APN	12	104,924,328 (GRCm39)	missense	probably benign	0.00
IGL01986:Syne3	APN	12	104,934,259 (GRCm39)	missense	probably damaging	1.00
IGL02303:Syne3	APN	12	104,929,553 (GRCm39)	missense	probably damaging	1.00
IGL02469:Syne3	APN	12	104,920,565 (GRCm39)	missense	probably benign	0.08
IGL03127:Syne3	APN	12	104,909,687 (GRCm39)	missense	probably benign	0.02
BB008:Syne3	UTSW	12	104,929,491 (GRCm39)	missense	probably damaging	0.97
BB018:Syne3	UTSW	12	104,929,491 (GRCm39)	missense	probably damaging	0.97
PIT4791001:Syne3	UTSW	12	104,929,438 (GRCm39)	missense	probably benign
R0436:Syne3	UTSW	12	104,913,183 (GRCm39)	missense	possibly damaging	0.95
R0471:Syne3	UTSW	12	104,909,685 (GRCm39)	missense	probably benign	0.00
R0613:Syne3	UTSW	12	104,924,371 (GRCm39)	missense	probably benign
R0662:Syne3	UTSW	12	104,927,769 (GRCm39)	missense	probably benign	0.44
R0707:Syne3	UTSW	12	104,935,619 (GRCm39)	missense	probably damaging	0.98
R1321:Syne3	UTSW	12	104,942,055 (GRCm39)	missense	probably benign	0.14
R1494:Syne3	UTSW	12	104,921,841 (GRCm39)	missense	possibly damaging	0.87
R2147:Syne3	UTSW	12	104,919,357 (GRCm39)	missense	probably damaging	1.00
R2326:Syne3	UTSW	12	104,935,493 (GRCm39)	missense	probably damaging	1.00
R2923:Syne3	UTSW	12	104,934,343 (GRCm39)	missense	probably damaging	1.00
R3710:Syne3	UTSW	12	104,909,697 (GRCm39)	missense	possibly damaging	0.86
R3946:Syne3	UTSW	12	104,924,325 (GRCm39)	missense	probably damaging	1.00
R4542:Syne3	UTSW	12	104,935,503 (GRCm39)	missense	probably benign	0.00
R4544:Syne3	UTSW	12	104,925,728 (GRCm39)	missense	probably damaging	1.00
R5110:Syne3	UTSW	12	104,909,629 (GRCm39)	missense	probably benign	0.10
R5256:Syne3	UTSW	12	104,942,139 (GRCm39)	start codon destroyed	probably null	1.00
R5490:Syne3	UTSW	12	104,921,931 (GRCm39)	missense	probably damaging	1.00
R5616:Syne3	UTSW	12	104,921,937 (GRCm39)	missense	probably damaging	1.00
R5730:Syne3	UTSW	12	104,927,713 (GRCm39)	missense	probably benign	0.02
R5941:Syne3	UTSW	12	104,913,251 (GRCm39)	missense	probably benign
R6208:Syne3	UTSW	12	104,909,622 (GRCm39)	missense	probably benign	0.12
R6456:Syne3	UTSW	12	104,906,963 (GRCm39)	missense	possibly damaging	0.87
R6566:Syne3	UTSW	12	104,912,966 (GRCm39)	missense	probably benign	0.00
R6957:Syne3	UTSW	12	104,920,561 (GRCm39)	missense	probably damaging	1.00
R7251:Syne3	UTSW	12	104,927,830 (GRCm39)	frame shift	probably null
R7388:Syne3	UTSW	12	104,934,167 (GRCm39)	missense	probably damaging	1.00
R7591:Syne3	UTSW	12	104,906,863 (GRCm39)	critical splice donor site	probably null
R7614:Syne3	UTSW	12	104,912,901 (GRCm39)	missense	not run
R7740:Syne3	UTSW	12	104,920,546 (GRCm39)	missense	probably benign	0.01
R7763:Syne3	UTSW	12	104,963,754 (GRCm39)	start gained	probably benign
R7931:Syne3	UTSW	12	104,929,491 (GRCm39)	missense	probably damaging	0.97
R8973:Syne3	UTSW	12	104,925,654 (GRCm39)	critical splice donor site	probably null
R9031:Syne3	UTSW	12	104,905,871 (GRCm39)	missense	probably benign	0.45
R9263:Syne3	UTSW	12	104,934,415 (GRCm39)	missense	probably damaging	1.00
R9579:Syne3	UTSW	12	104,942,107 (GRCm39)	missense	probably damaging	0.96
R9665:Syne3	UTSW	12	104,924,247 (GRCm39)	missense	probably benign	0.01
R9668:Syne3	UTSW	12	104,898,468 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTGAGATTCCACACACTGAAC -3'
(R):5'- GCCTCAGTGCATACAAGTTCC -3'

Sequencing Primer
(F):5'- GAGCCTGGTTACCTCAATCTGG -3'
(R):5'- GTGCATACAAGTTCCCACTTAATTC -3'

Posted On

2014-08-25