Mutagenetix > Incidental Mutation

Incidental Mutation 'R5358:Sun3'

424190

Institutional Source

Beutler Lab

Gene Symbol

Sun3

Ensembl Gene

ENSMUSG00000040985

Gene Name

Sad1 and UNC84 domain containing 3

Synonyms

Sunc1, D630047F21Rik

MMRRC Submission

042937-MU

Accession Numbers

Essential gene?

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

Stock #

R5358 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9016054-9048991 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9031496 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 36 (Q36L)

Ref Sequence

ENSEMBL: ENSMUSP00000045199 (fasta)

Gene Model

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

AlphaFold

Q5SS91

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043377
AA Change: Q36L

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045199
Gene: ENSMUSG00000040985
AA Change: Q36L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000102909

SMART Domains

Protein: ENSMUSP00000099973
Gene: ENSMUSG00000040985

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 80,013,331	V1842A	probably damaging	Het
Abi3	A	T	11: 95,842,108	F13L	probably benign	Het
Adgre4	A	G	17: 55,818,758	K538R	probably benign	Het
Bcas3	C	T	11: 85,451,755	H191Y	probably benign	Het
Bicdl2	A	G	17: 23,667,564	T376A	probably benign	Het
Ceacam18	C	A	7: 43,637,073	N123K	possibly damaging	Het
Celsr3	C	T	9: 108,832,025	R1357C	possibly damaging	Het
Chek2	T	C	5: 110,841,282		probably benign	Het
Chmp7	A	G	14: 69,721,235	V210A	probably benign	Het
Chrm2	A	G	6: 36,523,355	K49R	probably damaging	Het
Daam1	T	A	12: 71,952,459	L623*	probably null	Het
Ddx31	T	A	2: 28,863,770	C448S	probably damaging	Het
Dnah7a	A	G	1: 53,547,172	S1507P	probably damaging	Het
Dnah8	C	A	17: 30,746,954	T2420K	probably damaging	Het
Dyrk3	C	T	1: 131,129,695	R247H	probably damaging	Het
Exoc4	A	G	6: 33,265,999	E49G	probably damaging	Het
Fam196b	G	A	11: 34,402,788	E277K	probably damaging	Het
Fam96b	T	C	8: 104,641,650	N14S	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Foxj3	A	G	4: 119,619,399	E258G	probably damaging	Het
Gata4	C	T	14: 63,240,626	A175T	probably benign	Het
Helz2	C	T	2: 181,235,528	E1106K	probably damaging	Het
Hip1	G	T	5: 135,436,398	S385R	probably benign	Het
Igsf9	C	T	1: 172,484,511	T8I	probably benign	Het
Katnal2	A	G	18: 77,017,494	Y86H	possibly damaging	Het
Kcnh6	A	T	11: 106,027,591	I756F	possibly damaging	Het
Kdm5b	C	T	1: 134,607,694	R570*	probably null	Het
Kif16b	T	A	2: 142,740,969	R545S	probably damaging	Het
Kif21b	T	A	1: 136,172,292	I1528N	possibly damaging	Het
Kmt2a	T	C	9: 44,819,274		probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Melk	C	T	4: 44,363,730	T592M	probably damaging	Het
Mknk2	T	C	10: 80,671,763	T60A	probably benign	Het
Ncoa6	T	C	2: 155,406,987	K1466E	probably damaging	Het
Ntsr2	A	C	12: 16,654,082	T109P	probably damaging	Het
Nup214	C	A	2: 32,017,146	S995Y	unknown	Het
Olfr448	A	T	6: 42,896,520	Q23L	probably benign	Het
Pclo	T	A	5: 14,712,736	L456*	probably null	Het
Pde5a	A	G	3: 122,748,176	D105G	probably damaging	Het
Pik3c3	C	A	18: 30,323,544	P709H	probably damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rab3c	T	C	13: 110,061,963	N179S	possibly damaging	Het
Setdb2	T	A	14: 59,409,436	R559S	probably benign	Het
Sf3b1	A	G	1: 55,003,310	Y474H	probably benign	Het
Slc6a6	G	T	6: 91,735,174	W228L	probably benign	Het
Slc8a2	T	G	7: 16,157,303	I750S	probably damaging	Het
Slco2b1	T	A	7: 99,660,044	I194L	unknown	Het
Smarcd1	C	T	15: 99,703,247	Q45*	probably null	Het
Srcap	T	G	7: 127,540,320	L1271R	probably damaging	Het
Srsf12	A	T	4: 33,209,330	N9Y	probably damaging	Het
St7	T	C	6: 17,819,318	S74P	probably damaging	Het
Stxbp5l	T	A	16: 37,174,326	E739V	probably damaging	Het
Tbc1d32	T	C	10: 56,170,937	H545R	possibly damaging	Het
Tcp11	A	T	17: 28,078,020	C133S	probably benign	Het
Tm6sf2	T	C	8: 70,074,289	V36A	possibly damaging	Het
Tmem108	T	C	9: 103,499,518	Y244C	probably damaging	Het
Tra2a	A	T	6: 49,251,015		probably benign	Het
Trpm3	A	T	19: 22,925,968	I1031F	probably damaging	Het
Ttll3	A	G	6: 113,401,331	K381E	probably benign	Het
Uaca	T	C	9: 60,871,148	V937A	probably benign	Het
Umod	C	T	7: 119,472,354	G388D	probably damaging	Het
Vmn2r90	G	A	17: 17,704,150		probably null	Het
Zfp644	G	A	5: 106,635,675	T1002I	probably damaging	Het
Zfp651	T	A	9: 121,765,595	F540Y	probably damaging	Het
Zfp738	A	G	13: 67,671,012	Y287H	probably damaging	Het
Zfyve16	T	C	13: 92,508,263	T1144A	probably benign	Het
Zgrf1	T	C	3: 127,567,703		probably null	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
R5163:Sun3	UTSW	11	9023295	missense	possibly damaging	0.89
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'- TGGCTTGACATGGAAGGCTG -3'
(R):5'- TTGTTGAGTCCCAGTCCCAG -3'

Sequencing Primer
(F):5'- GGAATCAGGAATCATTTGCCTTTCC -3'
(R):5'- GAGTCCCAGTCCCAGTCTTC -3'

Posted On

2016-08-04