Mutagenetix > Incidental Mutation

Incidental Mutation 'R9130:Sun3'

693560

Institutional Source

Beutler Lab

Gene Symbol

Sun3

Ensembl Gene

ENSMUSG00000040985

Gene Name

Sad1 and UNC84 domain containing 3

Synonyms

Sunc1, D630047F21Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9130 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9016054-9048991 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 9018170 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 274 (T274P)

Ref Sequence

ENSEMBL: ENSMUSP00000045199 (fasta)

Gene Model

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

AlphaFold

Q5SS91

Predicted Effect

probably benign
Transcript: ENSMUST00000043377
AA Change: T274P

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000045199
Gene: ENSMUSG00000040985
AA Change: T274P

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
AA Change: T214P

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099973
Gene: ENSMUSG00000040985
AA Change: T214P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (87/88)

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	A	G	11: 76,451,927	C585R	possibly damaging	Het
Acaca	T	C	11: 84,311,319	L1380S	probably damaging	Het
Aifm2	A	C	10: 61,727,726	Q125P	probably null	Het
Ak5	A	T	3: 152,472,932	L482*	probably null	Het
Aldh3a2	T	C	11: 61,248,932	Q458R	probably benign	Het
Ank2	G	A	3: 127,016,916	T524I		Het
Apoc3	A	T	9: 46,235,183	S25T	unknown	Het
Ash1l	A	T	3: 89,058,541	R2417*	probably null	Het
Bbs12	A	G	3: 37,319,056		probably benign	Het
Birc6	T	A	17: 74,612,151	I1992N		Het
Brd9	G	A	13: 73,944,787	V299M	probably damaging	Het
Brwd1	A	T	16: 96,064,930	N217K	probably damaging	Het
C3	T	C	17: 57,211,678	Y1235C	probably damaging	Het
Cacna1c	T	C	6: 118,613,946	Y1538C		Het
Ccdc172	T	A	19: 58,537,347	H212Q	possibly damaging	Het
Cdc6	A	G	11: 98,912,173	D313G	probably damaging	Het
Cyp2e1	T	C	7: 140,773,109	V353A	probably damaging	Het
Dlg2	G	T	7: 92,431,050	V711F	probably damaging	Het
Dmac2	T	C	7: 25,621,023	F49S	probably damaging	Het
Dnah7b	A	G	1: 46,134,514	K660E	probably benign	Het
Dusp8	A	T	7: 142,088,418	S106T	probably benign	Het
Dynll1	T	A	5: 115,300,545	I34F	probably benign	Het
Epb41l4b	A	G	4: 57,103,447	F130L	possibly damaging	Het
Erc2	T	C	14: 28,029,461	Y705H	probably benign	Het
Exosc8	T	A	3: 54,731,082	L160F	probably damaging	Het
F5	A	G	1: 164,174,261	T178A	probably benign	Het
F7	C	A	8: 13,035,059	P362T	probably damaging	Het
Fkbp3	T	C	12: 65,065,793	K156E	possibly damaging	Het
Folh1	G	A	7: 86,719,705	T738I	probably benign	Het
Gatad2b	C	T	3: 90,348,629	A134V	probably benign	Het
Glud1	T	A	14: 34,335,392	W338R		Het
Gm21149	T	C	5: 15,475,263	K62E	possibly damaging	Het
Gm32742	A	G	9: 51,138,749	Y1517H	probably damaging	Het
Grik5	G	A	7: 25,068,004		probably benign	Het
Gse1	A	T	8: 120,568,313	E391V	unknown	Het
Gxylt2	C	T	6: 100,733,368	Q157*	probably null	Het
Hbq1b	C	T	11: 32,287,092	T27I	probably damaging	Het
Hoxd13	T	A	2: 74,669,038	D243E	probably benign	Het
Hsd3b3	T	A	3: 98,743,895	I80F	possibly damaging	Het
Hsf2bp	A	T	17: 32,011,108		probably benign	Het
Itch	G	A	2: 155,210,125		probably benign	Het
Kat14	T	C	2: 144,373,822	F76L	probably benign	Het
Kdm6b	T	C	11: 69,404,598	T948A	unknown	Het
Kmt2c	A	T	5: 25,311,104	H2580Q	probably benign	Het
Lrp1	T	C	10: 127,546,412	T3727A	probably benign	Het
Lrrc8a	A	G	2: 30,257,030	I619V	possibly damaging	Het
Mansc1	C	A	6: 134,609,988	G409W	probably damaging	Het
Map3k11	C	A	19: 5,696,010	L418I	possibly damaging	Het
Mettl4	T	A	17: 94,735,485	I308L	possibly damaging	Het
Myo9a	A	G	9: 59,832,231	D742G	probably damaging	Het
Mypn	T	C	10: 63,192,873	Q137R	probably benign	Het
Neurod4	A	T	10: 130,270,558	Y282*	probably null	Het
Nup210	A	G	6: 91,043,817	F965S	probably benign	Het
Olfr1031	T	G	2: 85,992,475	Y219*	probably null	Het
Olfr1271	A	G	2: 90,266,014	C139R	probably damaging	Het
Olfr374	G	T	8: 72,109,853	G96C	probably damaging	Het
Olfr780	A	G	10: 129,322,028	N135S	probably benign	Het
Oplah	T	C	15: 76,300,898	T872A	possibly damaging	Het
Pkn2	A	T	3: 142,809,484	D696E	possibly damaging	Het
Pla2r1	A	T	2: 60,495,385		probably benign	Het
Plpp1	A	T	13: 112,851,504	I54L		Het
Ppp4r2	T	G	6: 100,865,152	N191K	probably damaging	Het
Ptpdc1	G	T	13: 48,586,179	P592Q	probably benign	Het
Qrich2	A	T	11: 116,456,866	L1044*	probably null	Het
Rb1cc1	A	G	1: 6,244,885	I421V	probably damaging	Het
Ripor3	A	T	2: 167,981,347	C881*	probably null	Het
Rreb1	T	C	13: 37,930,306	F547S	probably benign	Het
Scel	T	C	14: 103,533,310	V60A	probably benign	Het
Shank3	G	A	15: 89,558,216	A1771T	probably benign	Het
Slc6a20a	A	G	9: 123,640,566		probably null	Het
Slfn5	C	T	11: 82,960,620	T581I	probably damaging	Het
Ssh3	A	C	19: 4,264,085	V412G	probably damaging	Het
Stx17	T	G	4: 48,159,071		probably benign	Het
Tm9sf1	T	C	14: 55,638,007	T427A	probably damaging	Het
Tmem114	T	A	16: 8,412,119	I140F		Het
Tmem40	T	C	6: 115,734,019	R167G	possibly damaging	Het
Top3a	C	A	11: 60,750,575		probably null	Het
Trafd1	A	G	5: 121,378,510	V210A	probably benign	Het
Trim66	T	C	7: 109,477,689	I348V	possibly damaging	Het
Ttn	G	A	2: 76,848,828	A10850V	unknown	Het
Unc80	G	A	1: 66,638,085	A2058T	possibly damaging	Het
Upp2	T	C	2: 58,778,008	Y238H	probably damaging	Het
Vmn1r224	T	A	17: 20,419,980	I273N	probably damaging	Het
Vps13c	T	C	9: 67,929,523	S1768P	probably damaging	Het
Zfp26	G	A	9: 20,437,427	H614Y	probably damaging	Het
Zfp263	C	T	16: 3,749,837	T672I	probably benign	Het
Zfp641	T	A	15: 98,288,851	Q297L	probably benign	Het
Zfp944	T	C	17: 22,341,050	E25G	probably damaging	Het
Zfp994	T	C	17: 22,200,000	E656G	unknown	Het
Zfyve19	A	G	2: 119,214,849	D206G	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
R5163:Sun3	UTSW	11	9023295	missense	possibly damaging	0.89
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
R9454:Sun3	UTSW	11	9038281	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCAAACTGAATTGTGCATGTG -3'
(R):5'- CATGCAATATCAAGTGAACCATTGC -3'

Sequencing Primer
(F):5'- ATACATGCCAGTGTTTGAAGC -3'
(R):5'- CAAGTGAACCATTGCTACTTGAG -3'

Posted On

2022-01-20