Mutagenetix > Incidental Mutation

Incidental Mutation 'R5163:Sun3'

475477

Institutional Source

Beutler Lab

Gene Symbol

Sun3

Ensembl Gene

ENSMUSG00000040985

Gene Name

Sad1 and UNC84 domain containing 3

Synonyms

Sunc1, D630047F21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R5163 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9016054-9048991 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9023295 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 134 (Q134R)

Ref Sequence

ENSEMBL: ENSMUSP00000099973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043377] [ENSMUST00000102909]

AlphaFold

Q5SS91

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043377
AA Change: Q194R

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000045199
Gene: ENSMUSG00000040985
AA Change: Q194R

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Sad1_UNC	182	316	3.4e-48	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102909
AA Change: Q134R

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099973
Gene: ENSMUSG00000040985
AA Change: Q134R

Domain	Start	End	E-Value	Type
Pfam:Sad1_UNC	122	256	3.2e-48	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Bcor	C	T	X: 12,040,486	R1551Q	probably damaging	Het
Btbd19	T	G	4: 117,121,431	I152L	probably damaging	Het
Ercc6l2	A	G	13: 63,899,031		probably benign	Het
Fat4	A	G	3: 38,980,797	D2866G	probably damaging	Het
Fkbp10	C	T	11: 100,423,099	A311V	probably benign	Het
Fnbp1l	T	C	3: 122,544,663	N511S	probably benign	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Gltp	A	G	5: 114,674,061	I147T	probably benign	Het
Gpr37	A	T	6: 25,669,615	I410N	possibly damaging	Het
Hivep2	G	A	10: 14,139,425	G1779R	probably damaging	Het
Ifna14	T	C	4: 88,571,362	Y146C	probably damaging	Het
Loxhd1	A	G	18: 77,361,736	D662G	possibly damaging	Het
Lrrc6	T	C	15: 66,442,218	D311G	probably benign	Het
Lrrc9	A	T	12: 72,449,389	I13F	probably damaging	Het
Map2k3	T	A	11: 60,943,491	I95N	probably damaging	Het
Mark1	A	G	1: 184,905,610	I594T	probably damaging	Het
Mettl14	T	C	3: 123,374,825	I189V	possibly damaging	Het
Msh2	C	A	17: 87,723,413	A906E	probably benign	Het
Odf4	C	A	11: 68,922,846	C133F	probably damaging	Het
Olfr976	T	C	9: 39,956,920	N5S	probably damaging	Het
Opa1	A	T	16: 29,597,620	Q106L	probably damaging	Het
Pax4	T	G	6: 28,446,270	S75R	probably damaging	Het
Ppfibp1	T	A	6: 147,022,131		probably null	Het
Ptpn20	T	C	14: 33,631,111	I269T	probably benign	Het
Ptprq	T	C	10: 107,524,331	Q2161R	probably damaging	Het
Rab22a	A	G	2: 173,661,487	D31G	probably damaging	Het
Rap1gds1	A	T	3: 138,959,056	M296K	probably damaging	Het
Rfx1	A	G	8: 84,093,211	T692A	probably damaging	Het
Sf3b2	A	G	19: 5,275,137	V769A	probably damaging	Het
Skint5	A	T	4: 113,795,565	F621I	unknown	Het
Spink5	A	C	18: 43,999,857	R513S	possibly damaging	Het
Srrm2	C	T	17: 23,819,550		probably benign	Het
Srrt	A	G	5: 137,296,773		probably null	Het
Tpo	A	G	12: 30,105,980	V174A	probably benign	Het
Ucp1	A	G	8: 83,294,203	R183G	possibly damaging	Het
Vmn2r66	A	G	7: 85,006,809	V333A	probably benign	Het
Wdr60	C	T	12: 116,255,866	R152H	possibly damaging	Het
Zfp108	G	T	7: 24,260,738	K251N	probably benign	Het
Zfp936	A	G	7: 43,190,240	Q377R	probably damaging	Het
Zkscan2	T	C	7: 123,499,867	E34G	probably benign	Het
Zufsp	T	A	10: 33,949,443	E14D	probably damaging	Het

Other mutations in Sun3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01290:Sun3	APN	11	9023341	missense	possibly damaging	0.91
IGL01473:Sun3	APN	11	9029394	missense	probably benign	0.00
IGL01578:Sun3	APN	11	9029436	missense	probably damaging	0.98
IGL03340:Sun3	APN	11	9023285	splice site	probably benign
R1944:Sun3	UTSW	11	9038296	missense	probably benign	0.00
R1945:Sun3	UTSW	11	9038296	missense	probably benign	0.00
R2233:Sun3	UTSW	11	9023371	nonsense	probably null
R4356:Sun3	UTSW	11	9016328	missense	probably damaging	1.00
R4784:Sun3	UTSW	11	9038266	missense	probably benign	0.00
R4785:Sun3	UTSW	11	9038266	missense	probably benign	0.00
R4975:Sun3	UTSW	11	9038311	nonsense	probably null
R5022:Sun3	UTSW	11	9038314	missense	probably damaging	0.96
R5134:Sun3	UTSW	11	9038287	missense	probably benign	0.04
R5358:Sun3	UTSW	11	9031496	missense	possibly damaging	0.90
R5668:Sun3	UTSW	11	9031433	critical splice donor site	probably null
R6621:Sun3	UTSW	11	9016242	missense	probably damaging	1.00
R7442:Sun3	UTSW	11	9031445	missense	possibly damaging	0.75
R8022:Sun3	UTSW	11	9023376	missense	probably damaging	1.00
R8134:Sun3	UTSW	11	9029346	missense	probably benign	0.00
R9130:Sun3	UTSW	11	9018170	missense	probably benign	0.13
R9454:Sun3	UTSW	11	9038281	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGAAGTGTCTAGGTTCTGTAGGC -3'
(R):5'- AGCCCTGGCCTAACTGAATC -3'

Sequencing Primer
(F):5'- TATGAGTACACTGTAGCTGTCTTCAG -3'
(R):5'- TGGCCTAACTGAATCCCAATGG -3'

Posted On

2017-04-24