Mutagenetix > Incidental Mutation

Incidental Mutation 'R0145:Sun1'

22564

Institutional Source

Beutler Lab

Gene Symbol

Sun1

Ensembl Gene

ENSMUSG00000036817

Gene Name

Sad1 and UNC84 domain containing 1

Synonyms

4632417G13Rik, 5730434D03Rik, Unc84a

MMRRC Submission

038430-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0145 (G1) of strain 722

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

139186392-139235595 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139227166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 574 (V574A)

Ref Sequence

ENSEMBL: ENSMUSP00000106507 (fasta)

Gene Model

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

AlphaFold

Q9D666

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058716
AA Change: V697A

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000056655
Gene: ENSMUSG00000036817
AA Change: V697A

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

possibly damaging
Transcript: ENSMUST00000078690
AA Change: V633A

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077756
Gene: ENSMUSG00000036817
AA Change: V633A

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

possibly damaging
Transcript: ENSMUST00000110882
AA Change: V541A

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106506
Gene: ENSMUSG00000036817
AA Change: V541A

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: V574A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106507
Gene: ENSMUSG00000036817
AA Change: V574A

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

possibly damaging
Transcript: ENSMUST00000110884
AA Change: V660A

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106508
Gene: ENSMUSG00000036817
AA Change: V660A

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

unknown
Transcript: ENSMUST00000127310
AA Change: V19A

SMART Domains

Protein: ENSMUSP00000114514
Gene: ENSMUSG00000036817
AA Change: V19A

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

Predicted Effect

unknown
Transcript: ENSMUST00000128817
AA Change: V191A

SMART Domains

Protein: ENSMUSP00000119587
Gene: ENSMUSG00000036817
AA Change: V191A

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

Meta Mutation Damage Score

0.1165

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 93.7%
20x: 82.1%

Validation Efficiency

96% (109/113)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	G	10: 100,437,783 (GRCm39)	E64G	probably damaging	Het
Actr6	A	T	10: 89,564,040 (GRCm39)	Y77*	probably null	Het
Aldoart1	A	T	4: 72,769,576 (GRCm39)	S411T	probably benign	Het
Aqp1	C	T	6: 55,323,672 (GRCm39)	R234C	probably damaging	Het
Arsb	G	A	13: 93,998,795 (GRCm39)	G368R	possibly damaging	Het
Asxl3	G	A	18: 22,586,662 (GRCm39)	A151T	probably damaging	Het
Bcas3	T	C	11: 85,250,436 (GRCm39)		probably benign	Het
Bmpr2	AACACA	AACA	1: 59,906,739 (GRCm39)		probably null	Het
Bst1	A	G	5: 43,976,414 (GRCm39)	Y49C	probably damaging	Het
Btrc	T	A	19: 45,411,612 (GRCm39)	L12Q	probably damaging	Het
Cd248	T	C	19: 5,119,051 (GRCm39)	F300L	possibly damaging	Het
Cdk11b	G	T	4: 155,726,076 (GRCm39)		probably benign	Het
Cfap410	T	C	10: 77,819,390 (GRCm39)	S196P	probably benign	Het
Cfap44	A	T	16: 44,288,735 (GRCm39)	D1495V	probably damaging	Het
Chil3	T	A	3: 106,067,794 (GRCm39)	I124F	probably damaging	Het
Cnot2	A	T	10: 116,353,273 (GRCm39)	S63T	possibly damaging	Het
Cox8a	G	T	19: 7,192,783 (GRCm39)	H61N	probably benign	Het
Cpne9	T	C	6: 113,277,562 (GRCm39)	V427A	probably damaging	Het
Ctsll3	C	A	13: 60,946,409 (GRCm39)	G301C	probably damaging	Het
Cubn	T	A	2: 13,311,243 (GRCm39)	D3094V	probably damaging	Het
Cyba	A	T	8: 123,153,977 (GRCm39)	M65K	possibly damaging	Het
Cyp4f39	T	A	17: 32,705,934 (GRCm39)	S342T	possibly damaging	Het
Daam2	T	C	17: 49,787,806 (GRCm39)	I436V	probably benign	Het
Daglb	T	C	5: 143,460,363 (GRCm39)		probably benign	Het
Dnah7b	T	G	1: 46,262,338 (GRCm39)	L2067R	probably damaging	Het
Ep300	T	C	15: 81,500,328 (GRCm39)		probably null	Het
Esm1	A	G	13: 113,353,230 (GRCm39)	N171D	probably damaging	Het
Fbxl2	T	C	9: 113,814,393 (GRCm39)	E266G	probably damaging	Het
Ficd	G	T	5: 113,876,880 (GRCm39)	A352S	probably damaging	Het
H2-Q2	A	G	17: 35,564,152 (GRCm39)	D302G	probably benign	Het
Hacd3	A	T	9: 64,911,524 (GRCm39)		probably benign	Het
Kbtbd6	T	A	14: 79,690,464 (GRCm39)	N386K	probably benign	Het
Lct	T	C	1: 128,255,632 (GRCm39)	M137V	probably benign	Het
Lilrb4b	T	G	10: 51,360,614 (GRCm39)	N176K	probably benign	Het
Macf1	T	A	4: 123,281,190 (GRCm39)	H4340L	probably damaging	Het
Mcidas	A	G	13: 113,130,906 (GRCm39)	D77G	probably damaging	Het
Mmrn1	C	A	6: 60,949,994 (GRCm39)	Q315K	probably damaging	Het
Mon2	C	A	10: 122,849,417 (GRCm39)	L1294F	possibly damaging	Het
Muc5ac	A	G	7: 141,349,012 (GRCm39)	T483A	possibly damaging	Het
Nacc1	T	C	8: 85,401,504 (GRCm39)		probably benign	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Ngef	A	G	1: 87,468,370 (GRCm39)		probably benign	Het
Nol8	C	T	13: 49,815,923 (GRCm39)	A677V	possibly damaging	Het
Ogfod3	A	T	11: 121,085,896 (GRCm39)		probably benign	Het
Or6c8	A	T	10: 128,915,232 (GRCm39)	V200E	probably damaging	Het
Or8i2	A	C	2: 86,852,134 (GRCm39)	Y251*	probably null	Het
Parpbp	T	C	10: 87,928,871 (GRCm39)	Y523C	possibly damaging	Het
Pik3cg	C	A	12: 32,254,321 (GRCm39)	L555F	probably benign	Het
Pkp3	T	G	7: 140,669,676 (GRCm39)		probably null	Het
Pole	G	T	5: 110,472,291 (GRCm39)	R1518L	probably damaging	Het
Prkab1	T	C	5: 116,156,144 (GRCm39)		probably benign	Het
Prrc2a	T	C	17: 35,374,796 (GRCm39)	T1285A	probably benign	Het
Pus1	C	A	5: 110,922,720 (GRCm39)	V222L	probably benign	Het
Rab11fip1	A	G	8: 27,633,352 (GRCm39)	L1118P	probably damaging	Het
Ranbp2	T	A	10: 58,315,868 (GRCm39)	I2196N	probably damaging	Het
Rims3	T	C	4: 120,744,223 (GRCm39)	L151P	probably damaging	Het
Rnf130	A	G	11: 49,962,046 (GRCm39)	D164G	possibly damaging	Het
Rps6ka2	C	A	17: 7,529,585 (GRCm39)	L293I	probably benign	Het
Ruvbl1	A	G	6: 88,461,441 (GRCm39)	T269A	possibly damaging	Het
Sema4a	A	T	3: 88,358,729 (GRCm39)	I10N	probably damaging	Het
Serpinb6e	A	T	13: 34,025,043 (GRCm39)	S83T	probably benign	Het
Slc12a9	C	A	5: 137,313,550 (GRCm39)	W803L	probably damaging	Het
Slc3a2	A	G	19: 8,685,437 (GRCm39)	S188P	probably damaging	Het
Slc7a13	G	A	4: 19,818,782 (GRCm39)		probably benign	Het
Spart	A	T	3: 55,035,092 (GRCm39)	K493*	probably null	Het
Spata31e2	A	G	1: 26,726,413 (GRCm39)	M32T	probably benign	Het
Supt6	A	G	11: 78,099,062 (GRCm39)	V1603A	probably benign	Het
Tgm5	A	G	2: 120,908,062 (GRCm39)	V38A	possibly damaging	Het
Tm6sf2	T	C	8: 70,530,518 (GRCm39)		probably benign	Het
Tnfaip2	T	A	12: 111,412,292 (GRCm39)	V231E	possibly damaging	Het
Tube1	T	A	10: 39,021,598 (GRCm39)	M281K	possibly damaging	Het
Tubgcp3	A	G	8: 12,707,561 (GRCm39)	Y143H	probably benign	Het
Tyrp1	A	G	4: 80,759,015 (GRCm39)	Y296C	probably damaging	Het
Utp4	A	G	8: 107,621,301 (GRCm39)	N26S	probably benign	Het
Vgf	T	A	5: 137,060,336 (GRCm39)		probably benign	Het
Zfat	T	C	15: 68,058,948 (GRCm39)	K196E	possibly damaging	Het
Zfp366	G	T	13: 99,366,048 (GRCm39)	S403I	probably damaging	Het
Zfp462	G	A	4: 55,010,529 (GRCm39)	G832R	probably damaging	Het
Zfp955a	T	A	17: 33,461,430 (GRCm39)	Q234L	probably damaging	Het
Zup1	T	C	10: 33,819,709 (GRCm39)	T202A	probably damaging	Het

Other mutations in Sun1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Sun1	APN	5	139,220,440 (GRCm39)	critical splice acceptor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- GCAGTTGTACTGCATTGTGCCC -3'
(R):5'- GCCCTGGAACAAAAGGCTTCACTC -3'

Sequencing Primer
(F):5'- TGAACAGTTGGCTCCTGC -3'
(R):5'- GGCTTCACTCAGTGCAAAG -3'

Posted On

2013-04-16