Mutagenetix > Incidental Mutations

Incidental Mutation 'R6753:Sun1'

530883

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6753 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139200637-139249840 bp(+) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 139215259 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114869 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058716] [ENSMUST00000078690] [ENSMUST00000100517] [ENSMUST00000110882] [ENSMUST00000110883] [ENSMUST00000110884] [ENSMUST00000127045] [ENSMUST00000129079] [ENSMUST00000143562] [ENSMUST00000146715] [ENSMUST00000148772]

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: 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: ENSMUST00000100517

SMART Domains

Protein: ENSMUSP00000098086
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

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: 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: ENSMUST00000123414

Predicted Effect

probably null
Transcript: ENSMUST00000127045

SMART Domains

Protein: ENSMUSP00000123211
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000129079

SMART Domains

Protein: ENSMUSP00000119582
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	32	44	N/A	INTRINSIC
Pfam:MRP	71	131	8.6e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142473

Predicted Effect

probably null
Transcript: ENSMUST00000143562

SMART Domains

Protein: ENSMUSP00000116364
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
Pfam:MRP	62	158	7e-34	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000146715

SMART Domains

Protein: ENSMUSP00000117679
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
Pfam:MRP	62	160	4.8e-34	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000148772

SMART Domains

Protein: ENSMUSP00000114869
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	64	76	N/A	INTRINSIC
Pfam:MRP	103	176	1.9e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196947

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

99% (68/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	G	A	11: 120,010,151	P1083S	probably benign	Het
Abcb5	T	A	12: 118,944,906	N101I	possibly damaging	Het
Adrb2	A	G	18: 62,179,553	V67A	possibly damaging	Het
Agk	T	A	6: 40,368,570		probably null	Het
Akap10	A	T	11: 61,886,777	M586K	probably damaging	Het
Akt3	A	T	1: 177,050,190	Y337*	probably null	Het
Armc1	A	G	3: 19,144,398	F133L	possibly damaging	Het
Bank1	T	C	3: 136,093,308	E424G	probably damaging	Het
Cacna1a	A	G	8: 84,580,205	E1363G	probably damaging	Het
Cacna1d	C	A	14: 30,042,786	A2076S	probably damaging	Het
Ccdc73	T	A	2: 104,991,524	L606*	probably null	Het
Ccdc8	C	T	7: 16,996,637	Q684*	probably null	Het
Ces1b	T	A	8: 93,067,020	K314*	probably null	Het
Ces1e	T	A	8: 93,215,128	N238I	probably damaging	Het
Chd4	A	G	6: 125,114,300	N1238S	probably benign	Het
Cmtr2	T	A	8: 110,222,979	D640E	probably damaging	Het
Col7a1	C	T	9: 108,958,128	T559I	unknown	Het
Comt	T	C	16: 18,408,021	K205R	probably benign	Het
Dbp	A	T	7: 45,708,404	E232V	probably damaging	Het
Dcbld2	A	G	16: 58,456,130	T470A	possibly damaging	Het
Eml6	T	A	11: 29,754,987	D1519V	probably damaging	Het
Evpl	T	A	11: 116,237,906	H31L	possibly damaging	Het
Exoc1	T	A	5: 76,563,339	I86N	probably damaging	Het
Fat3	C	T	9: 15,915,061	E4532K	possibly damaging	Het
Fgfr3	T	C	5: 33,732,159	S301P	probably benign	Het
Gas2l1	C	T	11: 5,064,254	V69I	probably damaging	Het
Gm2042	T	A	12: 87,958,084	I107K	probably damaging	Het
Gucy1b1	T	C	3: 82,039,747	D385G	probably null	Het
Ints1	T	A	5: 139,765,175	E824D	probably damaging	Het
Itfg1	T	C	8: 85,835,078	D142G	probably benign	Het
Jaml	A	G	9: 45,107,379	N359D	probably benign	Het
Kcnh7	T	A	2: 62,850,377	I289L	probably benign	Het
Klf12	G	A	14: 100,109,776	Q40*	probably null	Het
Mcm4	A	C	16: 15,629,362	N579K	possibly damaging	Het
Mfsd2b	A	T	12: 4,867,358	F179I	possibly damaging	Het
Mmp11	C	T	10: 75,928,374	V86M	probably damaging	Het
Mogs	T	C	6: 83,115,882	V101A	probably damaging	Het
Narf	T	A	11: 121,242,626	H84Q	probably benign	Het
Olfr987	C	A	2: 85,331,798	M33I	probably benign	Het
Otog	A	C	7: 46,249,071	E204D	probably benign	Het
Parp8	G	A	13: 116,895,115	H354Y	possibly damaging	Het
Pcnx	C	A	12: 81,964,480	D1238E	probably damaging	Het
Pi4ka	A	G	16: 17,376,982	L184P	possibly damaging	Het
Pkd1l3	C	T	8: 109,624,449	T642I	probably damaging	Het
Pkhd1l1	G	A	15: 44,589,663	E3995K	probably benign	Het
Prdm9	A	T	17: 15,544,956	Y521N	probably benign	Het
Prex2	A	G	1: 11,184,456	S1105G	probably damaging	Het
Prss35	T	A	9: 86,756,100	F308I	probably damaging	Het
Rab22a	C	T	2: 173,701,055	A167V	probably benign	Het
Rims2	A	G	15: 39,566,973	Q871R	possibly damaging	Het
Rorb	A	T	19: 18,957,247	M253K	probably benign	Het
Ryr3	T	C	2: 112,652,610	D4269G	probably damaging	Het
Snx11	T	C	11: 96,769,906		probably benign	Het
Son	A	G	16: 91,657,188	Q941R	probably damaging	Het
Sptbn2	G	T	19: 4,747,785	R1880L	probably benign	Het
Tprn	A	G	2: 25,264,038	R451G	probably benign	Het
Trbv30	T	A	6: 41,281,377	M1K	probably null	Het
Ttn	C	A	2: 76,738,221	G25697W	probably damaging	Het
Ubb	T	G	11: 62,551,527		probably null	Het
Unc13b	C	T	4: 43,239,331	R1038C	probably damaging	Het
Usp7	T	C	16: 8,696,911	M687V	probably benign	Het
Zfp160	G	A	17: 21,020,734	M21I	probably benign	Het
Zfp868	T	C	8: 69,612,096	N196S	probably benign	Het
Zufsp	A	T	10: 33,928,029	I483N	probably 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
R7218:Sun1	UTSW	5	139226687	missense	unknown
R7320:Sun1	UTSW	5	139248484	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- CATGAAAGAAACTTTGACTTGGGAC -3'
(R):5'- ACTTGCTCCCAATCATGGCC -3'

Sequencing Primer
(F):5'- GTTATAATCAAAATGGGACTGCCAGC -3'
(R):5'- TCCCAATCATGGCCAAGGG -3'

Posted On

2018-08-01