Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02237:Syne4'

285953

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Syne4

Ensembl Gene

ENSMUSG00000019737

Gene Name

spectrin repeat containing, nuclear envelope family member 4

Synonyms

0610012K07Rik, AI428936, nesprin-4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

IGL02237

Quality Score

Status

Chromosome

Chromosomal Location

30014268-30018471 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 30015988 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054594] [ENSMUST00000060834] [ENSMUST00000098586] [ENSMUST00000136887] [ENSMUST00000176304] [ENSMUST00000176304] [ENSMUST00000176504] [ENSMUST00000176504] [ENSMUST00000137550] [ENSMUST00000177078] [ENSMUST00000177078] [ENSMUST00000176789]

AlphaFold

Q8CII8

Predicted Effect

probably null
Transcript: ENSMUST00000054594

SMART Domains

Protein: ENSMUSP00000055874
Gene: ENSMUSG00000019737

Domain	Start	End	E-Value	Type
Blast:SPEC	96	198	2e-34	BLAST
low complexity region	222	234	N/A	INTRINSIC
low complexity region	290	315	N/A	INTRINSIC
KASH	335	388	2.85e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000060834

SMART Domains

Protein: ENSMUSP00000051515
Gene: ENSMUSG00000042831

Domain	Start	End	E-Value	Type
Pfam:2OG-FeII_Oxy_2	23	224	3.5e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098586

SMART Domains

Protein: ENSMUSP00000096185
Gene: ENSMUSG00000074211

Domain	Start	End	E-Value	Type
Pfam:Complex1_LYR	9	63	2.1e-16	PFAM
Pfam:Complex1_LYR_1	9	65	5.9e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135882

Predicted Effect

probably benign
Transcript: ENSMUST00000136887

SMART Domains

Protein: ENSMUSP00000121953
Gene: ENSMUSG00000042831

Domain	Start	End	E-Value	Type
Pfam:2OG-FeII_Oxy_2	3	210	2.1e-16	PFAM
Pfam:2OG-FeII_Oxy	82	213	1.2e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000176304

SMART Domains

Protein: ENSMUSP00000135637
Gene: ENSMUSG00000019737

Domain	Start	End	E-Value	Type
Blast:SPEC	96	196	3e-34	BLAST
low complexity region	197	232	N/A	INTRINSIC
KASH	252	305	2.85e-15	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000176304

SMART Domains

Protein: ENSMUSP00000135637
Gene: ENSMUSG00000019737

Domain	Start	End	E-Value	Type
Blast:SPEC	96	196	3e-34	BLAST
low complexity region	197	232	N/A	INTRINSIC
KASH	252	305	2.85e-15	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000176504

SMART Domains

Protein: ENSMUSP00000135844
Gene: ENSMUSG00000019737

Domain	Start	End	E-Value	Type
Blast:SPEC	92	170	2e-33	BLAST
low complexity region	194	206	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000176504

SMART Domains

Protein: ENSMUSP00000135844
Gene: ENSMUSG00000019737

Domain	Start	End	E-Value	Type
Blast:SPEC	92	170	2e-33	BLAST
low complexity region	194	206	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175902

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144951

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148858

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137870

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143369

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175672

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176536

Predicted Effect

probably benign
Transcript: ENSMUST00000137550

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176232

Predicted Effect

probably null
Transcript: ENSMUST00000177078

SMART Domains

Protein: ENSMUSP00000135895
Gene: ENSMUSG00000019737

Domain	Start	End	E-Value	Type
Blast:SPEC	88	150	4e-24	BLAST
low complexity region	174	186	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000177078

SMART Domains

Protein: ENSMUSP00000135895
Gene: ENSMUSG00000019737

Domain	Start	End	E-Value	Type
Blast:SPEC	88	150	4e-24	BLAST
low complexity region	174	186	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176984

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177395

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176965

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176987

Predicted Effect

probably benign
Transcript: ENSMUST00000176789

Predicted Effect

probably benign
Transcript: ENSMUST00000176571

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177257

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the nesprin family of genes, that encode KASH (Klarsicht, Anc-1, Syne Homology) domain-containing proteins. In addition to the KASH domain, this protein also contains a coiled-coil and leucine zipper region, a spectrin repeat, and a kinesin-1 binding region. This protein localizes to the outer nuclear membrane, and is part of the linker of nucleoskeleton and cytoskeleton (LINC) complex in the nuclear envelope. LINC complexes are formed by SUN (Sad1, UNC-84)-KASH pairs, and are thought to mechanically couple nuclear components to the cytoskeleton. Mutations in this gene have been associated with progressive high-frequency hearing loss. The absence of this protein in mice also caused hearing loss, and changes in hair cell morphology in the ears. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hearing loss associated with outer hair cell degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	T	A	2: 181,135,350 (GRCm39)	V84E	probably benign	Het
Adam39	A	T	8: 41,278,482 (GRCm39)	E291V	probably benign	Het
Ak5	T	A	3: 152,204,980 (GRCm39)	D372V	probably benign	Het
Brpf1	C	T	6: 113,287,336 (GRCm39)	P188L	probably damaging	Het
Cacna2d3	C	T	14: 29,068,954 (GRCm39)	V258I	probably benign	Het
Cd14	A	G	18: 36,858,912 (GRCm39)	F181S	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cts6	A	T	13: 61,345,313 (GRCm39)	D261E	probably benign	Het
Daam1	A	G	12: 72,029,495 (GRCm39)	T897A	probably benign	Het
Ddx25	T	A	9: 35,453,365 (GRCm39)		probably benign	Het
Ddx55	A	G	5: 124,705,958 (GRCm39)	E461G	probably damaging	Het
Degs1	T	C	1: 182,107,253 (GRCm39)	K2R	probably damaging	Het
Drc7	C	T	8: 95,799,507 (GRCm39)	L561F	probably damaging	Het
Eif4enif1	A	T	11: 3,177,876 (GRCm39)	K423*	probably null	Het
Epha7	A	G	4: 28,949,325 (GRCm39)		probably null	Het
Erich5	A	C	15: 34,471,482 (GRCm39)	E237A	probably benign	Het
Ficd	A	G	5: 113,876,373 (GRCm39)	T183A	probably damaging	Het
Foxb2	T	C	19: 16,850,908 (GRCm39)	M33V	unknown	Het
Gja8	T	G	3: 96,827,249 (GRCm39)	S138R	probably benign	Het
Gm28042	T	G	2: 119,870,380 (GRCm39)	L743V	possibly damaging	Het
Gtf3c2	A	T	5: 31,316,397 (GRCm39)		probably benign	Het
Itga11	T	C	9: 62,663,057 (GRCm39)		probably null	Het
Kazn	A	T	4: 141,874,410 (GRCm39)	D315E	probably benign	Het
Kbtbd2	A	T	6: 56,756,033 (GRCm39)	S568T	possibly damaging	Het
Man1c1	A	C	4: 134,311,609 (GRCm39)		probably null	Het
Myh9	A	G	15: 77,670,854 (GRCm39)	S463P	probably benign	Het
Nlrp4a	G	T	7: 26,148,703 (GRCm39)	K103N	possibly damaging	Het
Oog2	T	A	4: 143,923,016 (GRCm39)	F427Y	possibly damaging	Het
Pcmtd1	T	C	1: 7,233,601 (GRCm39)		probably null	Het
Pcnt	C	A	10: 76,188,818 (GRCm39)	D2861Y	probably damaging	Het
Pdzd7	C	T	19: 45,028,697 (GRCm39)	A149T	probably damaging	Het
Pebp4	A	T	14: 70,297,105 (GRCm39)	T215S	possibly damaging	Het
Pgm1	T	C	4: 99,820,707 (GRCm39)		probably benign	Het
Plekhh2	T	A	17: 84,883,213 (GRCm39)	D760E	probably benign	Het
Pomt1	T	C	2: 32,135,689 (GRCm39)	I351T	probably benign	Het
Ptpn21	C	T	12: 98,671,351 (GRCm39)		probably null	Het
Rsad2	T	G	12: 26,506,186 (GRCm39)	Y78S	probably damaging	Het
Rsbn1l	A	T	5: 21,124,604 (GRCm39)	N399K	probably benign	Het
Sec31a	A	G	5: 100,509,914 (GRCm39)	V1191A	probably damaging	Het
Sema6c	C	T	3: 95,077,430 (GRCm39)	P414L	probably damaging	Het
Serpinb5	T	C	1: 106,808,056 (GRCm39)	S69P	probably benign	Het
Slc25a13	C	T	6: 6,042,646 (GRCm39)	R586H	probably damaging	Het
Spink5	T	A	18: 44,145,934 (GRCm39)	M776K	probably benign	Het
Srcap	A	G	7: 127,133,864 (GRCm39)		probably benign	Het
Stt3a	G	A	9: 36,660,933 (GRCm39)	Q293*	probably null	Het
Tomm40l	C	T	1: 171,048,463 (GRCm39)	V97M	possibly damaging	Het
Trpc4	C	T	3: 54,129,783 (GRCm39)	S183F	probably damaging	Het
Ttn	C	T	2: 76,716,478 (GRCm39)		probably benign	Het
Ufl1	A	C	4: 25,269,082 (GRCm39)	S170A	probably benign	Het
Vmn2r66	G	A	7: 84,643,908 (GRCm39)	T834I	probably benign	Het
Vmn2r75	A	G	7: 85,814,786 (GRCm39)	S236P	possibly damaging	Het
Zfp345	A	T	2: 150,316,805 (GRCm39)		probably benign	Het
Zfp955b	T	C	17: 33,520,893 (GRCm39)	S121P	probably damaging	Het

Other mutations in Syne4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02386:Syne4	APN	7	30,015,659 (GRCm39)	missense	possibly damaging	0.91
R0089:Syne4	UTSW	7	30,018,344 (GRCm39)	missense	probably damaging	0.99
R0091:Syne4	UTSW	7	30,018,344 (GRCm39)	missense	probably damaging	0.99
R0448:Syne4	UTSW	7	30,014,345 (GRCm39)	start gained	probably benign
R0555:Syne4	UTSW	7	30,016,169 (GRCm39)	missense	probably damaging	0.99
R1205:Syne4	UTSW	7	30,014,761 (GRCm39)	missense	probably damaging	0.96
R1862:Syne4	UTSW	7	30,016,308 (GRCm39)	missense	probably benign	0.06
R1863:Syne4	UTSW	7	30,016,308 (GRCm39)	missense	probably benign	0.06
R4776:Syne4	UTSW	7	30,016,258 (GRCm39)	splice site	probably benign
R5325:Syne4	UTSW	7	30,018,401 (GRCm39)	missense	probably damaging	1.00
R6145:Syne4	UTSW	7	30,015,988 (GRCm39)	splice site	probably null
R6479:Syne4	UTSW	7	30,016,340 (GRCm39)	nonsense	probably null
R7823:Syne4	UTSW	7	30,018,280 (GRCm39)	missense	probably benign	0.09
R9013:Syne4	UTSW	7	30,017,418 (GRCm39)	missense	probably damaging	1.00
R9541:Syne4	UTSW	7	30,016,343 (GRCm39)	missense	probably benign	0.02
R9596:Syne4	UTSW	7	30,014,504 (GRCm39)	missense	probably benign	0.01
Z1088:Syne4	UTSW	7	30,015,761 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16