Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01154:Syne3'

52521

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Syne3

Ensembl Gene

ENSMUSG00000054150

Gene Name

spectrin repeat containing, nuclear envelope family member 3

Synonyms

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01154

Quality Score

Status

Chromosome

Chromosomal Location

104929933-105009809 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104958069 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 357 (F357S)

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: F357S

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

SMART Domains

Protein: ENSMUSP00000065771
Gene: ENSMUSG00000054150
AA Change: F357S

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: F444S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000093090
Gene: ENSMUSG00000054150
AA Change: F444S

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: F357S

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

SMART Domains

Protein: ENSMUSP00000105553
Gene: ENSMUSG00000054150
AA Change: F357S

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
2210408I21Rik	T	G	13: 77,281,094	F767V	probably benign	Het
A2m	C	A	6: 121,673,542	S1203*	probably null	Het
Abcc3	T	C	11: 94,359,232		probably benign	Het
Adamts13	T	C	2: 27,006,194	Y1200H	probably benign	Het
Aldh1l2	T	C	10: 83,520,373	D51G	probably damaging	Het
Apc2	A	G	10: 80,313,069	E1319G	possibly damaging	Het
Arap3	A	T	18: 37,996,734	S125T	probably benign	Het
Atp2b1	T	A	10: 98,996,888	V417E	probably damaging	Het
Bpifa1	T	A	2: 154,144,000	D78E	probably benign	Het
Catsperb	C	A	12: 101,625,681	A1090E	possibly damaging	Het
Ceacam9	C	A	7: 16,723,961	T138K	probably damaging	Het
Cenpf	T	A	1: 189,680,333	E244D	probably benign	Het
Cep135	A	T	5: 76,606,796		probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Col15a1	A	C	4: 47,208,450	T6P	possibly damaging	Het
Cyp11b1	T	A	15: 74,838,534	Q306L	probably benign	Het
Defa22	T	A	8: 21,163,037		probably null	Het
Dnah5	A	T	15: 28,458,656	T4480S	possibly damaging	Het
Fastkd1	T	C	2: 69,690,060		probably null	Het
Flt1	A	G	5: 147,576,156	Y1124H	possibly damaging	Het
Fsd1l	A	G	4: 53,701,074	M469V	probably benign	Het
Fxr2	T	C	11: 69,641,433		probably benign	Het
Gm10801	A	T	2: 98,663,983	Y135F	probably benign	Het
Grm4	A	T	17: 27,434,737	C699*	probably null	Het
Hcn4	A	G	9: 58,859,079	T677A	unknown	Het
Igkv9-123	G	T	6: 67,954,534		probably benign	Het
Irf4	T	A	13: 30,757,421	H253Q	possibly damaging	Het
Jakmip2	T	C	18: 43,590,679		probably benign	Het
Kmt2c	A	G	5: 25,284,399	V1134A	probably damaging	Het
Limch1	G	T	5: 66,745,958	E17*	probably null	Het
Nap1l1	T	A	10: 111,486,675	N72K	probably damaging	Het
Olfr1265	T	C	2: 90,037,468	L183P	probably damaging	Het
Olfr574	T	C	7: 102,948,839	S115P	probably damaging	Het
Otud6b	A	T	4: 14,811,732	Y304N	probably damaging	Het
Pdcd10	A	C	3: 75,541,233	M8R	probably damaging	Het
Ppip5k1	T	C	2: 121,343,179	T404A	probably damaging	Het
Ppp2r2d	C	T	7: 138,882,211	A197V	probably benign	Het
Psg25	C	T	7: 18,524,699	D351N	probably benign	Het
Sbno1	A	T	5: 124,410,249	I87N	probably damaging	Het
Stfa2l1	C	T	16: 36,159,937		probably benign	Het
Sugp2	T	A	8: 70,242,699	D107E	probably damaging	Het
Syne1	G	T	10: 5,360,848	F576L	probably damaging	Het
Tenm2	A	G	11: 36,041,544	L1741P	probably damaging	Het
Tgs1	A	T	4: 3,585,473	K117*	probably null	Het
Tram1	C	T	1: 13,579,449		probably null	Het
Trank1	T	A	9: 111,386,400	D1799E	probably benign	Het
Ttc14	A	T	3: 33,803,099	Y198F	probably benign	Het
Ube3b	A	G	5: 114,406,252	N570S	probably null	Het
Ube4b	A	G	4: 149,365,470	F412S	probably benign	Het
Vac14	T	C	8: 110,653,607		probably benign	Het
Vmn2r65	T	C	7: 84,943,521	T493A	probably benign	Het
Zfp408	T	C	2: 91,648,006		probably benign	Het
Zfp580	C	T	7: 5,053,268	T209I	possibly damaging	Het

Other mutations in Syne3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01986:Syne3	APN	12	104968000	missense	probably damaging	1.00
IGL02303:Syne3	APN	12	104963294	missense	probably damaging	1.00
IGL02469:Syne3	APN	12	104954306	missense	probably benign	0.08
IGL03127:Syne3	APN	12	104943428	missense	probably benign	0.02
BB008:Syne3	UTSW	12	104963232	missense	probably damaging	0.97
BB018:Syne3	UTSW	12	104963232	missense	probably damaging	0.97
PIT4791001:Syne3	UTSW	12	104963179	missense	probably benign
R0436:Syne3	UTSW	12	104946924	missense	possibly damaging	0.95
R0471:Syne3	UTSW	12	104943426	missense	probably benign	0.00
R0613:Syne3	UTSW	12	104958112	missense	probably benign
R0662:Syne3	UTSW	12	104961510	missense	probably benign	0.44
R0707:Syne3	UTSW	12	104969360	missense	probably damaging	0.98
R1321:Syne3	UTSW	12	104975796	missense	probably benign	0.14
R1494:Syne3	UTSW	12	104955582	missense	possibly damaging	0.87
R2035:Syne3	UTSW	12	104958127	missense	probably benign	0.00
R2147:Syne3	UTSW	12	104953098	missense	probably damaging	1.00
R2326:Syne3	UTSW	12	104969234	missense	probably damaging	1.00
R2923:Syne3	UTSW	12	104968084	missense	probably damaging	1.00
R3710:Syne3	UTSW	12	104943438	missense	possibly damaging	0.86
R3946:Syne3	UTSW	12	104958066	missense	probably damaging	1.00
R4542:Syne3	UTSW	12	104969244	missense	probably benign	0.00
R4544:Syne3	UTSW	12	104959469	missense	probably damaging	1.00
R5110:Syne3	UTSW	12	104943370	missense	probably benign	0.10
R5256:Syne3	UTSW	12	104975880	start codon destroyed	probably null	1.00
R5490:Syne3	UTSW	12	104955672	missense	probably damaging	1.00
R5616:Syne3	UTSW	12	104955678	missense	probably damaging	1.00
R5730:Syne3	UTSW	12	104961454	missense	probably benign	0.02
R5941:Syne3	UTSW	12	104946992	missense	probably benign
R6208:Syne3	UTSW	12	104943363	missense	probably benign	0.12
R6456:Syne3	UTSW	12	104940704	missense	possibly damaging	0.87
R6566:Syne3	UTSW	12	104946707	missense	probably benign	0.00
R6957:Syne3	UTSW	12	104954302	missense	probably damaging	1.00
R7251:Syne3	UTSW	12	104961571	frame shift	probably null
R7388:Syne3	UTSW	12	104967908	missense	probably damaging	1.00
R7591:Syne3	UTSW	12	104940604	critical splice donor site	probably null
R7614:Syne3	UTSW	12	104946642	missense	not run
R7740:Syne3	UTSW	12	104954287	missense	probably benign	0.01
R7763:Syne3	UTSW	12	104997495	start gained	probably benign
R7931:Syne3	UTSW	12	104963232	missense	probably damaging	0.97
R8973:Syne3	UTSW	12	104959395	critical splice donor site	probably null
R9031:Syne3	UTSW	12	104939612	missense	probably benign	0.45
R9263:Syne3	UTSW	12	104968156	missense	probably damaging	1.00

Posted On

2013-06-21