Mutagenetix > Incidental Mutation

Incidental Mutation 'R7320:Sun1'

568126

Institutional Source

Beutler Lab

Gene Symbol

Sun1

Ensembl Gene

ENSMUSG00000036817

Gene Name

Sad1 and UNC84 domain containing 1

Synonyms

Unc84a, 5730434D03Rik, 4632417G13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7320 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

139200637-139249840 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 139248484 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 899 (Y899D)

Ref Sequence

ENSEMBL: ENSMUSP00000056655 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026976] [ENSMUST00000058716] [ENSMUST00000078690] [ENSMUST00000110882] [ENSMUST00000110883] [ENSMUST00000110884] [ENSMUST00000130326]

AlphaFold

Q9D666

Predicted Effect

probably benign
Transcript: ENSMUST00000026976

SMART Domains

Protein: ENSMUSP00000026976
Gene: ENSMUSG00000025858

Domain	Start	End	E-Value	Type
low complexity region	1	8	N/A	INTRINSIC
low complexity region	12	22	N/A	INTRINSIC
Pfam:DUF410	56	306	4.6e-79	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000058716
AA Change: Y899D

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

SMART Domains

Protein: ENSMUSP00000056655
Gene: ENSMUSG00000036817
AA Change: Y899D

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 damaging
Transcript: ENSMUST00000078690
AA Change: Y835D

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

SMART Domains

Protein: ENSMUSP00000077756
Gene: ENSMUSG00000036817
AA Change: Y835D

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 damaging
Transcript: ENSMUST00000110882
AA Change: Y743D

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

SMART Domains

Protein: ENSMUSP00000106506
Gene: ENSMUSG00000036817
AA Change: Y743D

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 damaging
Transcript: ENSMUST00000110883
AA Change: Y776D

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

SMART Domains

Protein: ENSMUSP00000106507
Gene: ENSMUSG00000036817
AA Change: Y776D

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 damaging
Transcript: ENSMUST00000110884
AA Change: Y862D

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

SMART Domains

Protein: ENSMUSP00000106508
Gene: ENSMUSG00000036817
AA Change: Y862D

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 benign
Transcript: ENSMUST00000127310

SMART Domains

Protein: ENSMUSP00000114514
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	1	11	N/A	INTRINSIC
PDB:4DXS\|A	38	73	3e-6	PDB

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 benign
Transcript: ENSMUST00000130326

SMART Domains

Protein: ENSMUSP00000117473
Gene: ENSMUSG00000025858

Domain	Start	End	E-Value	Type
low complexity region	1	8	N/A	INTRINSIC
low complexity region	12	22	N/A	INTRINSIC
Pfam:DUF410	54	246	1.1e-80	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	T	A	3: 108,464,303	K650*	probably null	Het
Abcc3	A	G	11: 94,367,645	I458T	probably benign	Het
Adam29	A	G	8: 55,872,714	I235T	possibly damaging	Het
AF529169	A	G	9: 89,601,626	S573P	probably benign	Het
Afap1	G	A	5: 35,948,223	V174I	probably damaging	Het
Ak8	A	T	2: 28,812,992	D456V	probably damaging	Het
Alb	T	C	5: 90,464,987		probably null	Het
Alox12	C	T	11: 70,254,472	A92T	probably benign	Het
Arhgap23	T	C	11: 97,451,545	S218P	probably benign	Het
Blm	G	A	7: 80,455,354	Q1389*	probably null	Het
C1ql4	A	T	15: 99,087,724	V2E	unknown	Het
Casp12	A	G	9: 5,348,897		probably null	Het
Ccdc73	A	T	2: 104,999,176	I1065F	possibly damaging	Het
Ccdc83	C	T	7: 90,224,034	G371D	probably damaging	Het
Cfap65	A	G	1: 74,926,604	S416P	probably damaging	Het
Cftr	T	A	6: 18,319,013	C1351S	probably damaging	Het
Clcn4	A	T	7: 7,291,828	H311Q	probably benign	Het
Cldn13	T	G	5: 134,915,020	I104L	probably benign	Het
Cul9	A	G	17: 46,510,909	V1880A	possibly damaging	Het
Ddx17	A	T	15: 79,531,904	D407E	probably damaging	Het
Ddx28	G	A	8: 106,011,325	P34S	probably damaging	Het
Dnah5	A	T	15: 28,270,470	N973Y	probably null	Het
Dock10	A	G	1: 80,549,704		probably null	Het
Dock3	T	C	9: 106,895,524	D510G	probably benign	Het
Dst	T	A	1: 34,191,094	D2589E	probably benign	Het
E2f7	T	C	10: 110,764,130	Y249H	not run	Het
Eef2kmt	T	C	16: 5,250,509	Y69C	possibly damaging	Het
Erlin1	T	C	19: 44,059,065	Y139C	probably damaging	Het
Exog	G	T	9: 119,462,478	V274L	possibly damaging	Het
Fam83e	G	A	7: 45,722,472	V98M	probably benign	Het
Fras1	C	T	5: 96,709,886	T2013I	probably benign	Het
Gart	G	T	16: 91,621,681	A970E	probably benign	Het
Gga2	T	A	7: 122,002,103	H259L	probably benign	Het
Glis3	C	A	19: 28,531,598	V329F	probably damaging	Het
Gm6356	T	A	14: 6,972,923	N53I	probably damaging	Het
Golgb1	C	A	16: 36,915,951	C1894*	probably null	Het
Ifi203	T	C	1: 173,929,167	N350S	unknown	Het
Isy1	T	A	6: 87,833,706	R55S	unknown	Het
Itsn1	A	T	16: 91,839,699	D678V	unknown	Het
Lhcgr	T	A	17: 88,742,078	R673S	probably benign	Het
Lnx2	C	A	5: 147,020,133	R601L	possibly damaging	Het
Map4	A	G	9: 110,081,517	T1093A	probably benign	Het
Mink1	A	G	11: 70,599,073	K92E	probably benign	Het
Moxd1	A	G	10: 24,301,465	I560V	probably benign	Het
Mrc2	C	A	11: 105,329,235	D327E	possibly damaging	Het
Notch2	A	G	3: 98,131,327	E1262G	possibly damaging	Het
Olfr1025-ps1	A	T	2: 85,918,374	I150F	probably benign	Het
Olfr1052	GTACTTTTT	GT	2: 86,297,994		probably null	Het
Olfr123	T	A	17: 37,796,357	N304K	probably benign	Het
Olfr1298	A	G	2: 111,645,952	L15S	probably benign	Het
Olfr1434	G	A	19: 12,283,816	G256D	possibly damaging	Het
Olfr1477	T	A	19: 13,503,180	M279K	possibly damaging	Het
Olfr653	C	A	7: 104,580,438	S264*	probably null	Het
Olfr785	A	T	10: 129,409,785	T140S	possibly damaging	Het
Pcbp2	T	A	15: 102,473,347	V5E	probably damaging	Het
Pcp4l1	G	A	1: 171,174,465	A42V	possibly damaging	Het
Pgghg	A	T	7: 140,943,040	Y104F	probably benign	Het
Plscr2	T	C	9: 92,291,140		probably null	Het
Ppfibp1	C	T	6: 146,978,053	A25V	probably damaging	Het
Ptgfr	C	T	3: 151,835,397	G158D	probably benign	Het
Ptgs2	T	C	1: 150,102,695	F186S	probably damaging	Het
Ptpn14	A	G	1: 189,832,759	E181G	probably benign	Het
Rpgrip1	A	G	14: 52,131,216	K291E	possibly damaging	Het
Rtn4rl1	T	C	11: 75,194,296		probably null	Het
Sema3b	T	A	9: 107,600,942	M415L	probably benign	Het
Sh3bp4	A	G	1: 89,145,494	E688G	probably damaging	Het
Slco6c1	G	A	1: 97,128,162	R5C	possibly damaging	Het
Slmap	A	G	14: 26,460,072	F369L	possibly damaging	Het
Sphk2	T	C	7: 45,712,470	N181S	possibly damaging	Het
Sqor	A	G	2: 122,799,810	T235A	probably benign	Het
St13	A	G	15: 81,389,653	L80P	probably damaging	Het
St3gal6	A	G	16: 58,493,711	Y20H	probably benign	Het
Synm	C	T	7: 67,735,380	E845K	possibly damaging	Het
Tg	A	T	15: 66,694,784	D1227V	possibly damaging	Het
Thbs1	A	G	2: 118,114,957	N306D	possibly damaging	Het
Tmcc3	A	T	10: 94,578,495	N51Y	possibly damaging	Het
Usp4	A	G	9: 108,388,306	D856G	probably benign	Het
Vil1	G	A	1: 74,418,444	A79T	probably damaging	Het
Vmn1r119	T	A	7: 21,012,346	H37L	probably damaging	Het
Vmn2r110	A	T	17: 20,596,054	M69K	probably benign	Het
Wdr78	A	T	4: 103,050,187	I634N	possibly damaging	Het
Ywhaq	A	G	12: 21,394,981	L221P	probably damaging	Het
Zfp142	G	A	1: 74,570,008	Q1543*	probably null	Het
Zfp384	T	A	6: 125,024,830	M146K	possibly damaging	Het

Other mutations in Sun1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Sun1	APN	5	139234685	critical splice acceptor site	probably null
IGL01364:Sun1	APN	5	139234741	missense	probably damaging	1.00
IGL02142:Sun1	APN	5	139231163	missense	possibly damaging	0.95
IGL02251:Sun1	APN	5	139241431	missense	probably damaging	1.00
IGL02939:Sun1	APN	5	139235488	splice site	probably benign
IGL03253:Sun1	APN	5	139223586	splice site	probably benign
IGL03370:Sun1	APN	5	139231131	missense	probably damaging	0.96
PIT4418001:Sun1	UTSW	5	139226588	missense	probably damaging	0.97
R0124:Sun1	UTSW	5	139246679	unclassified	probably benign
R0145:Sun1	UTSW	5	139241411	missense	probably damaging	0.98
R0376:Sun1	UTSW	5	139226699	unclassified	probably benign
R0512:Sun1	UTSW	5	139234847	splice site	probably benign
R0729:Sun1	UTSW	5	139237864	unclassified	probably benign
R0733:Sun1	UTSW	5	139231163	missense	possibly damaging	0.63
R1188:Sun1	UTSW	5	139238856	missense	probably damaging	0.98
R1724:Sun1	UTSW	5	139235725	missense	probably benign
R1733:Sun1	UTSW	5	139230789	missense	possibly damaging	0.82
R1913:Sun1	UTSW	5	139235732	critical splice donor site	probably null
R2033:Sun1	UTSW	5	139225438	missense	probably damaging	1.00
R2200:Sun1	UTSW	5	139231219	missense	probably benign	0.11
R3084:Sun1	UTSW	5	139235601	missense	probably benign	0.41
R3085:Sun1	UTSW	5	139235601	missense	probably benign	0.41
R3771:Sun1	UTSW	5	139238820	unclassified	probably benign
R3772:Sun1	UTSW	5	139238820	unclassified	probably benign
R3804:Sun1	UTSW	5	139225362	nonsense	probably null
R4300:Sun1	UTSW	5	139227594	unclassified	probably benign
R4428:Sun1	UTSW	5	139234475	intron	probably benign
R4993:Sun1	UTSW	5	139225333	missense	possibly damaging	0.84
R5075:Sun1	UTSW	5	139226891	splice site	probably null
R5363:Sun1	UTSW	5	139234743	missense	probably damaging	1.00
R5826:Sun1	UTSW	5	139245416	missense	probably damaging	1.00
R6753:Sun1	UTSW	5	139215259	splice site	probably null
R7218:Sun1	UTSW	5	139226687	missense	unknown
R7448:Sun1	UTSW	5	139246834	missense	probably damaging	1.00
R7494:Sun1	UTSW	5	139235720	missense	probably benign
R8398:Sun1	UTSW	5	139236653	missense	probably damaging	1.00
R8756:Sun1	UTSW	5	139236689	missense	probably damaging	0.99
R8772:Sun1	UTSW	5	139223692	missense	probably benign	0.00
R8804:Sun1	UTSW	5	139231165	missense	probably benign	0.05
R8924:Sun1	UTSW	5	139223635	missense	probably damaging	1.00
R9124:Sun1	UTSW	5	139245366	nonsense	probably null
R9169:Sun1	UTSW	5	139233518	missense	probably benign	0.33
R9262:Sun1	UTSW	5	139215163	missense	unknown
R9558:Sun1	UTSW	5	139225264	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTCCCAACTGCTCTTGAGG -3'
(R):5'- TTTGAGAACACACGCACAGC -3'

Sequencing Primer
(F):5'- CCAACTGCTCTTGAGGCTTATTTGG -3'
(R):5'- TCAGAGGACTCAGCACGTC -3'

Posted On

2019-06-26