Mutagenetix > Incidental Mutation

Incidental Mutation 'R4975:Sun3'

448951

Institutional Source

Beutler Lab

Gene Symbol

Sun3

Ensembl Gene

ENSMUSG00000040985

Gene Name

Sad1 and UNC84 domain containing 3

Synonyms

Sunc1, D630047F21Rik

MMRRC Submission

042570-MU

Accession Numbers

Essential gene?

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

Stock #

R4975 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

9016054-9048991 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 9038311 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 4 (R4*)

Ref Sequence

ENSEMBL: ENSMUSP00000045199 (fasta)

Gene Model

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

AlphaFold

Q5SS91

Predicted Effect

probably null
Transcript: ENSMUST00000043377
AA Change: R4*

SMART Domains

Protein: ENSMUSP00000045199
Gene: ENSMUSG00000040985
AA Change: R4*

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

Meta Mutation Damage Score

0.9564

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 92.8%

Validation Efficiency

100% (81/81)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	A	G	14: 8,518,736	V240A	probably benign	Het
Abcc8	T	C	7: 46,150,867	K497R	probably damaging	Het
Aldh1a3	C	T	7: 66,419,179	R19Q	possibly damaging	Het
Bmp2k	A	G	5: 97,087,085		probably benign	Het
C130079G13Rik	A	C	3: 59,932,740	T78P	probably damaging	Het
Ccni	A	T	5: 93,187,694	L195Q	possibly damaging	Het
Cdkl4	C	A	17: 80,525,335	G327*	probably null	Het
Cdsn	T	C	17: 35,555,429	V285A	possibly damaging	Het
Chtf18	T	C	17: 25,724,566	E352G	possibly damaging	Het
Clasp2	T	A	9: 113,903,916	I961N	probably damaging	Het
Cpsf2	A	G	12: 101,983,493	Q128R	probably damaging	Het
Cttnbp2	C	A	6: 18,406,526	Q1055H	possibly damaging	Het
Cyld	T	G	8: 88,707,232	F216L	probably benign	Het
Cyp3a41a	A	G	5: 145,720,048	M1T	probably null	Het
Disp3	C	T	4: 148,244,216	R1097H	possibly damaging	Het
Dmap1	T	C	4: 117,681,036	D67G	possibly damaging	Het
Dnah8	T	C	17: 30,656,985	F529L	probably benign	Het
Ergic3	T	C	2: 156,017,718		probably null	Het
Fkbp14	A	G	6: 54,592,958	I29T	probably benign	Het
Gm4845	T	A	1: 141,256,885		noncoding transcript	Het
Gm6614	T	C	6: 141,980,873	S576G	probably benign	Het
Gm7135	A	T	1: 97,354,076		noncoding transcript	Het
Gpbar1	TACCAC	TAC	1: 74,279,545		probably benign	Het
Gtf2ird1	T	A	5: 134,395,627	I57F	probably damaging	Het
Hectd1	A	G	12: 51,762,497	V1722A	probably benign	Het
Hmcn2	A	G	2: 31,393,025	D1971G	possibly damaging	Het
Il21	C	A	3: 37,232,504	S21I	probably damaging	Het
Itih4	T	A	14: 30,892,287	I398N	probably damaging	Het
Kansl1	A	T	11: 104,335,564	S922R	probably damaging	Het
Krt27	G	A	11: 99,346,896	Q339*	probably null	Het
Lama1	C	A	17: 67,738,834	L245I	possibly damaging	Het
Lmo2	T	A	2: 103,976,143	C60*	probably null	Het
Med16	A	G	10: 79,903,005	S316P	possibly damaging	Het
Mia3	T	C	1: 183,331,115	N529S	probably benign	Het
Msi2	T	C	11: 88,394,655	K188E	probably damaging	Het
Myh7	T	C	14: 54,971,671	K1870R	probably damaging	Het
Nhlrc1	A	G	13: 47,013,740	V347A	probably benign	Het
Nol6	C	T	4: 41,120,167	R487H	probably benign	Het
Olfr1222	T	C	2: 89,125,338	Y131C	probably damaging	Het
Olfr1287	T	C	2: 111,449,683	I181T	probably benign	Het
Olfr648	A	T	7: 104,179,529	V293D	probably damaging	Het
Olfr73	T	C	2: 88,034,661	I159M	probably benign	Het
Olfr775	T	C	10: 129,251,272	I246T	probably damaging	Het
Otog	T	C	7: 46,287,991	V1708A	probably benign	Het
Ptprv	A	G	1: 135,118,848		noncoding transcript	Het
Pus7l	A	G	15: 94,529,488	V471A	possibly damaging	Het
Rab11fip4	A	G	11: 79,619,671	R68G	probably damaging	Het
Ralgapb	A	G	2: 158,435,508	D264G	possibly damaging	Het
Reln	A	G	5: 21,960,426	S2045P	probably damaging	Het
Rgs22	A	C	15: 36,054,876	Y593*	probably null	Het
Ror2	C	T	13: 53,131,918	D87N	probably damaging	Het
Rps6ka4	A	T	19: 6,840,310		probably null	Het
Rttn	T	A	18: 89,064,085		probably null	Het
Runx3	A	G	4: 135,171,135	T206A	probably benign	Het
Setx	A	G	2: 29,164,550	E2158G	probably damaging	Het
Siglece	C	T	7: 43,658,972		probably null	Het
Snx1	A	T	9: 66,104,905	L96*	probably null	Het
Srrm1	A	G	4: 135,346,720		probably benign	Het
Stk39	A	T	2: 68,220,992		probably benign	Het
Svil	A	G	18: 5,054,025	K347E	possibly damaging	Het
Sybu	T	A	15: 44,677,667	E333V	probably damaging	Het
Tet2	A	G	3: 133,486,759		probably benign	Het
Tfip11	G	T	5: 112,335,747		probably benign	Het
Tmc1	A	C	19: 20,906,955	D40E	probably damaging	Het
Twf2	G	T	9: 106,212,340	G121W	probably damaging	Het
Vpreb3	A	G	10: 75,939,802	V50A	probably damaging	Het
Vps8	T	A	16: 21,466,469	L400Q	probably damaging	Het
Xylt1	A	T	7: 117,667,342	Y861F	probably damaging	Het
Zfp608	T	G	18: 54,889,890	T1485P	probably damaging	Het
Zfp619	T	G	7: 39,537,080	S845A	possibly damaging	Het
Zscan4d	A	T	7: 11,165,347	M1K	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
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
R9130:Sun3	UTSW	11	9018170	missense	probably benign	0.13
R9454:Sun3	UTSW	11	9038281	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCTTGAAGAATATGTAGGTGACTT -3'
(R):5'- CAGCTTCATAGTCACATGTGTG -3'

Sequencing Primer
(F):5'- GTAGGTGACTTCCACTGTGTCTAAC -3'
(R):5'- TGGAGGAATGTAAATGTCTCTGCAC -3'

Posted On

2016-12-16