Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00465:Sun1'

332156

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sun1

Ensembl Gene

ENSMUSG00000036817

Gene Name

Sad1 and UNC84 domain containing 1

Synonyms

4632417G13Rik, 5730434D03Rik, Unc84a

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00465

Quality Score

Status

Chromosome

Chromosomal Location

139186392-139235595 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 139220440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058716] [ENSMUST00000058716] [ENSMUST00000058716] [ENSMUST00000078690] [ENSMUST00000078690] [ENSMUST00000078690] [ENSMUST00000110882] [ENSMUST00000110882] [ENSMUST00000110882] [ENSMUST00000110883] [ENSMUST00000110883] [ENSMUST00000110883] [ENSMUST00000110884] [ENSMUST00000110884] [ENSMUST00000110884] [ENSMUST00000135720]

AlphaFold

Q9D666

Predicted Effect

probably null
Transcript: ENSMUST00000058716

SMART Domains

Protein: ENSMUSP00000056655
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
ZnF_C2H2	183	205	5.2e0	SMART
SCOP:d1qovm1	334	450	2e-3	SMART
low complexity region	466	475	N/A	INTRINSIC
coiled coil region	492	527	N/A	INTRINSIC
SCOP:d1eq1a_	572	689	3e-3	SMART
Pfam:Sad1_UNC	777	911	2.2e-48	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000058716

SMART Domains

Protein: ENSMUSP00000056655
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
ZnF_C2H2	183	205	5.2e0	SMART
SCOP:d1qovm1	334	450	2e-3	SMART
low complexity region	466	475	N/A	INTRINSIC
coiled coil region	492	527	N/A	INTRINSIC
SCOP:d1eq1a_	572	689	3e-3	SMART
Pfam:Sad1_UNC	777	911	2.2e-48	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000058716

SMART Domains

Protein: ENSMUSP00000056655
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
ZnF_C2H2	183	205	5.2e0	SMART
SCOP:d1qovm1	334	450	2e-3	SMART
low complexity region	466	475	N/A	INTRINSIC
coiled coil region	492	527	N/A	INTRINSIC
SCOP:d1eq1a_	572	689	3e-3	SMART
Pfam:Sad1_UNC	777	911	2.2e-48	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000078690

SMART Domains

Protein: ENSMUSP00000077756
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
ZnF_C2H2	183	205	5.2e0	SMART
SCOP:d1qovm1	270	386	2e-3	SMART
low complexity region	402	411	N/A	INTRINSIC
coiled coil region	428	463	N/A	INTRINSIC
SCOP:d1eq1a_	508	625	2e-3	SMART
Pfam:Sad1_UNC	713	847	1.9e-48	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000078690

SMART Domains

Protein: ENSMUSP00000077756
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
ZnF_C2H2	183	205	5.2e0	SMART
SCOP:d1qovm1	270	386	2e-3	SMART
low complexity region	402	411	N/A	INTRINSIC
coiled coil region	428	463	N/A	INTRINSIC
SCOP:d1eq1a_	508	625	2e-3	SMART
Pfam:Sad1_UNC	713	847	1.9e-48	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000078690

SMART Domains

Protein: ENSMUSP00000077756
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
ZnF_C2H2	183	205	5.2e0	SMART
SCOP:d1qovm1	270	386	2e-3	SMART
low complexity region	402	411	N/A	INTRINSIC
coiled coil region	428	463	N/A	INTRINSIC
SCOP:d1eq1a_	508	625	2e-3	SMART
Pfam:Sad1_UNC	713	847	1.9e-48	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110882

SMART Domains

Protein: ENSMUSP00000106506
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
ZnF_C2H2	183	205	5.2e0	SMART
low complexity region	263	271	N/A	INTRINSIC
low complexity region	310	319	N/A	INTRINSIC
coiled coil region	336	371	N/A	INTRINSIC
SCOP:d1eq1a_	416	533	4e-3	SMART
Pfam:Sad1_UNC	621	755	7.1e-49	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110882

SMART Domains

Protein: ENSMUSP00000106506
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
ZnF_C2H2	183	205	5.2e0	SMART
low complexity region	263	271	N/A	INTRINSIC
low complexity region	310	319	N/A	INTRINSIC
coiled coil region	336	371	N/A	INTRINSIC
SCOP:d1eq1a_	416	533	4e-3	SMART
Pfam:Sad1_UNC	621	755	7.1e-49	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110882

SMART Domains

Protein: ENSMUSP00000106506
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
ZnF_C2H2	183	205	5.2e0	SMART
low complexity region	263	271	N/A	INTRINSIC
low complexity region	310	319	N/A	INTRINSIC
coiled coil region	336	371	N/A	INTRINSIC
SCOP:d1eq1a_	416	533	4e-3	SMART
Pfam:Sad1_UNC	621	755	7.1e-49	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110883

SMART Domains

Protein: ENSMUSP00000106507
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
ZnF_C2H2	183	205	5.2e0	SMART
SCOP:d1qovm1	233	327	4e-3	SMART
low complexity region	343	352	N/A	INTRINSIC
coiled coil region	369	404	N/A	INTRINSIC
SCOP:d1eq1a_	449	566	3e-3	SMART
Pfam:Sad1_UNC	654	788	1.7e-48	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110883

SMART Domains

Protein: ENSMUSP00000106507
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
ZnF_C2H2	183	205	5.2e0	SMART
SCOP:d1qovm1	233	327	4e-3	SMART
low complexity region	343	352	N/A	INTRINSIC
coiled coil region	369	404	N/A	INTRINSIC
SCOP:d1eq1a_	449	566	3e-3	SMART
Pfam:Sad1_UNC	654	788	1.7e-48	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110883

SMART Domains

Protein: ENSMUSP00000106507
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
ZnF_C2H2	183	205	5.2e0	SMART
SCOP:d1qovm1	233	327	4e-3	SMART
low complexity region	343	352	N/A	INTRINSIC
coiled coil region	369	404	N/A	INTRINSIC
SCOP:d1eq1a_	449	566	3e-3	SMART
Pfam:Sad1_UNC	654	788	1.7e-48	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110884

SMART Domains

Protein: ENSMUSP00000106508
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
ZnF_C2H2	183	205	5.2e0	SMART
Pfam:MRP	274	381	1.8e-8	PFAM
low complexity region	382	390	N/A	INTRINSIC
low complexity region	429	438	N/A	INTRINSIC
coiled coil region	455	490	N/A	INTRINSIC
SCOP:d1eq1a_	535	652	4e-3	SMART
Pfam:Sad1_UNC	740	874	2e-48	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110884

SMART Domains

Protein: ENSMUSP00000106508
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
ZnF_C2H2	183	205	5.2e0	SMART
Pfam:MRP	274	381	1.8e-8	PFAM
low complexity region	382	390	N/A	INTRINSIC
low complexity region	429	438	N/A	INTRINSIC
coiled coil region	455	490	N/A	INTRINSIC
SCOP:d1eq1a_	535	652	4e-3	SMART
Pfam:Sad1_UNC	740	874	2e-48	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110884

SMART Domains

Protein: ENSMUSP00000106508
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
ZnF_C2H2	183	205	5.2e0	SMART
Pfam:MRP	274	381	1.8e-8	PFAM
low complexity region	382	390	N/A	INTRINSIC
low complexity region	429	438	N/A	INTRINSIC
coiled coil region	455	490	N/A	INTRINSIC
SCOP:d1eq1a_	535	652	4e-3	SMART
Pfam:Sad1_UNC	740	874	2e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126108

Predicted Effect

probably benign
Transcript: ENSMUST00000128817

SMART Domains

Protein: ENSMUSP00000119587
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
coiled coil region	58	126	N/A	INTRINSIC
PDB:4DXS\|A	207	258	1e-13	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000135926

SMART Domains

Protein: ENSMUSP00000114488
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
ZnF_C2H2	11	33	5.2e0	SMART
transmembrane domain	59	81	N/A	INTRINSIC
transmembrane domain	120	142	N/A	INTRINSIC
transmembrane domain	149	171	N/A	INTRINSIC
low complexity region	202	211	N/A	INTRINSIC
coiled coil region	227	255	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000135926

SMART Domains

Protein: ENSMUSP00000114488
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
ZnF_C2H2	11	33	5.2e0	SMART
transmembrane domain	59	81	N/A	INTRINSIC
transmembrane domain	120	142	N/A	INTRINSIC
transmembrane domain	149	171	N/A	INTRINSIC
low complexity region	202	211	N/A	INTRINSIC
coiled coil region	227	255	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000135926

SMART Domains

Protein: ENSMUSP00000114488
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
ZnF_C2H2	11	33	5.2e0	SMART
transmembrane domain	59	81	N/A	INTRINSIC
transmembrane domain	120	142	N/A	INTRINSIC
transmembrane domain	149	171	N/A	INTRINSIC
low complexity region	202	211	N/A	INTRINSIC
coiled coil region	227	255	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153469

Predicted Effect

probably benign
Transcript: ENSMUST00000135720

SMART Domains

Protein: ENSMUSP00000122785
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	14	33	N/A	INTRINSIC
ZnF_C2H2	98	120	5.2e0	SMART

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 unc-84 homolog family and encodes a nuclear nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit sterility due to arrested meiosis, hearing loss associated with outer hair cell degeneration, abnormal cerebellum development, ataxia, impaired motor coordination, and abnormal Purkinje cell migration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	T	15: 60,793,102 (GRCm39)	S2T	probably damaging	Het
Adamts13	T	A	2: 26,863,567 (GRCm39)	W7R	probably benign	Het
Anks6	T	A	4: 47,046,054 (GRCm39)	D279V	probably damaging	Het
C4bp	A	T	1: 130,566,871 (GRCm39)	L335Q	probably damaging	Het
Cd109	A	T	9: 78,568,216 (GRCm39)	K299*	probably null	Het
Cd200r2	A	T	16: 44,729,651 (GRCm39)	H102L	probably damaging	Het
Col12a1	A	G	9: 79,604,863 (GRCm39)	Y662H	probably damaging	Het
Cyp2c37	T	C	19: 39,990,441 (GRCm39)	F380L	probably benign	Het
Deup1	A	G	9: 15,472,666 (GRCm39)	S549P	probably damaging	Het
Dysf	G	T	6: 84,176,830 (GRCm39)		probably null	Het
Etaa1	A	T	11: 17,897,825 (GRCm39)	C166*	probably null	Het
Fam227b	T	C	2: 125,986,245 (GRCm39)		probably null	Het
Gucy1b2	T	G	14: 62,640,649 (GRCm39)	Q752P	probably benign	Het
Hal	T	C	10: 93,325,931 (GRCm39)		probably null	Het
Hao1	C	A	2: 134,396,190 (GRCm39)	K21N	probably damaging	Het
Itga4	T	C	2: 79,122,394 (GRCm39)	F536L	probably benign	Het
Lmod3	A	T	6: 97,224,822 (GRCm39)	I333N	probably damaging	Het
Mgme1	T	A	2: 144,121,436 (GRCm39)	D297E	probably damaging	Het
Myh2	G	T	11: 67,069,659 (GRCm39)		probably benign	Het
Myo7a	A	G	7: 97,751,833 (GRCm39)	M70T	probably damaging	Het
Nav3	T	C	10: 109,688,607 (GRCm39)	T557A	probably damaging	Het
Nif3l1	C	A	1: 58,494,845 (GRCm39)	H271Q	possibly damaging	Het
Nostrin	A	G	2: 69,015,898 (GRCm39)		probably benign	Het
Nxn	C	A	11: 76,165,481 (GRCm39)		probably benign	Het
Pcdhb22	A	T	18: 37,653,185 (GRCm39)	D551V	probably damaging	Het
Pde4d	A	G	13: 110,073,221 (GRCm39)	D339G	possibly damaging	Het
Pkp4	T	A	2: 59,169,099 (GRCm39)	S408T	probably damaging	Het
Pxmp2	T	C	5: 110,431,582 (GRCm39)	T54A	probably benign	Het
Rif1	T	A	2: 52,011,019 (GRCm39)	V2362E	probably damaging	Het
Rps6kl1	A	G	12: 85,186,203 (GRCm39)	S276P	probably benign	Het
Scaf4	C	A	16: 90,044,169 (GRCm39)	M601I	unknown	Het
Scart2	A	G	7: 139,874,755 (GRCm39)	Y411C	probably damaging	Het
Setd7	T	A	3: 51,457,729 (GRCm39)	T33S	probably benign	Het
Shroom1	T	A	11: 53,354,921 (GRCm39)	D280E	probably benign	Het
Slc35f2	G	T	9: 53,705,298 (GRCm39)		probably null	Het
Slitrk3	T	A	3: 72,958,436 (GRCm39)	N112I	probably damaging	Het
Spag1	A	G	15: 36,183,967 (GRCm39)		probably benign	Het
Stx6	C	T	1: 155,077,679 (GRCm39)		probably benign	Het
Tbl1xr1	G	A	3: 22,246,432 (GRCm39)		probably null	Het
Tmc2	T	C	2: 130,103,224 (GRCm39)	S787P	possibly damaging	Het
Traf3ip3	C	T	1: 192,877,128 (GRCm39)		probably benign	Het
Trip12	T	G	1: 84,741,582 (GRCm39)	H559P	probably damaging	Het
Trpm1	G	T	7: 63,897,215 (GRCm39)	M272I	possibly damaging	Het
Ttc21b	T	C	2: 66,073,119 (GRCm39)	E189G	probably benign	Het
Tubd1	T	C	11: 86,445,894 (GRCm39)		probably benign	Het
Vps13a	T	A	19: 16,729,539 (GRCm39)	T167S	probably damaging	Het
Zbtb3	A	G	19: 8,781,029 (GRCm39)	D214G	possibly damaging	Het
Zfp658	A	G	7: 43,216,780 (GRCm39)	D50G	probably benign	Het
Zfp976	T	A	7: 42,263,109 (GRCm39)	I243L	unknown	Het

Other mutations in Sun1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01364:Sun1	APN	5	139,220,496 (GRCm39)	missense	probably damaging	1.00
IGL02142:Sun1	APN	5	139,216,918 (GRCm39)	missense	possibly damaging	0.95
IGL02251:Sun1	APN	5	139,227,186 (GRCm39)	missense	probably damaging	1.00
IGL02939:Sun1	APN	5	139,221,243 (GRCm39)	splice site	probably benign
IGL03253:Sun1	APN	5	139,209,341 (GRCm39)	splice site	probably benign
IGL03370:Sun1	APN	5	139,216,886 (GRCm39)	missense	probably damaging	0.96
PIT4418001:Sun1	UTSW	5	139,212,343 (GRCm39)	missense	probably damaging	0.97
R0124:Sun1	UTSW	5	139,232,434 (GRCm39)	unclassified	probably benign
R0145:Sun1	UTSW	5	139,227,166 (GRCm39)	missense	probably damaging	0.98
R0376:Sun1	UTSW	5	139,212,454 (GRCm39)	unclassified	probably benign
R0512:Sun1	UTSW	5	139,220,602 (GRCm39)	splice site	probably benign
R0729:Sun1	UTSW	5	139,223,619 (GRCm39)	unclassified	probably benign
R0733:Sun1	UTSW	5	139,216,918 (GRCm39)	missense	possibly damaging	0.63
R1188:Sun1	UTSW	5	139,224,611 (GRCm39)	missense	probably damaging	0.98
R1724:Sun1	UTSW	5	139,221,480 (GRCm39)	missense	probably benign
R1733:Sun1	UTSW	5	139,216,544 (GRCm39)	missense	possibly damaging	0.82
R1913:Sun1	UTSW	5	139,221,487 (GRCm39)	critical splice donor site	probably null
R2033:Sun1	UTSW	5	139,211,193 (GRCm39)	missense	probably damaging	1.00
R2200:Sun1	UTSW	5	139,216,974 (GRCm39)	missense	probably benign	0.11
R3084:Sun1	UTSW	5	139,221,356 (GRCm39)	missense	probably benign	0.41
R3085:Sun1	UTSW	5	139,221,356 (GRCm39)	missense	probably benign	0.41
R3771:Sun1	UTSW	5	139,224,575 (GRCm39)	unclassified	probably benign
R3772:Sun1	UTSW	5	139,224,575 (GRCm39)	unclassified	probably benign
R3804:Sun1	UTSW	5	139,211,117 (GRCm39)	nonsense	probably null
R4300:Sun1	UTSW	5	139,213,349 (GRCm39)	unclassified	probably benign
R4428:Sun1	UTSW	5	139,220,230 (GRCm39)	intron	probably benign
R4993:Sun1	UTSW	5	139,211,088 (GRCm39)	missense	possibly damaging	0.84
R5075:Sun1	UTSW	5	139,212,646 (GRCm39)	splice site	probably null
R5363:Sun1	UTSW	5	139,220,498 (GRCm39)	missense	probably damaging	1.00
R5826:Sun1	UTSW	5	139,231,171 (GRCm39)	missense	probably damaging	1.00
R6753:Sun1	UTSW	5	139,201,014 (GRCm39)	splice site	probably null
R7218:Sun1	UTSW	5	139,212,442 (GRCm39)	missense	unknown
R7320:Sun1	UTSW	5	139,234,239 (GRCm39)	missense	probably damaging	1.00
R7448:Sun1	UTSW	5	139,232,589 (GRCm39)	missense	probably damaging	1.00
R7494:Sun1	UTSW	5	139,221,475 (GRCm39)	missense	probably benign
R8398:Sun1	UTSW	5	139,222,408 (GRCm39)	missense	probably damaging	1.00
R8756:Sun1	UTSW	5	139,222,444 (GRCm39)	missense	probably damaging	0.99
R8772:Sun1	UTSW	5	139,209,447 (GRCm39)	missense	probably benign	0.00
R8804:Sun1	UTSW	5	139,216,920 (GRCm39)	missense	probably benign	0.05
R8924:Sun1	UTSW	5	139,209,390 (GRCm39)	missense	probably damaging	1.00
R9124:Sun1	UTSW	5	139,231,121 (GRCm39)	nonsense	probably null
R9169:Sun1	UTSW	5	139,219,273 (GRCm39)	missense	probably benign	0.33
R9262:Sun1	UTSW	5	139,200,918 (GRCm39)	missense	unknown
R9558:Sun1	UTSW	5	139,211,019 (GRCm39)	missense	probably benign	0.00

Posted On

2015-08-05