Mutagenetix > Incidental Mutation

Incidental Mutation 'R6046:Sart3'

483280

Institutional Source

Beutler Lab

Gene Symbol

Sart3

Ensembl Gene

ENSMUSG00000018974

Gene Name

squamous cell carcinoma antigen recognized by T cells 3

Synonyms

MMRRC Submission

044214-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R6046 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113880505-113910461 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113893507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 330 (I330N)

Ref Sequence

ENSEMBL: ENSMUSP00000143778 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019118] [ENSMUST00000197041]

AlphaFold

Q9JLI8

Predicted Effect

probably damaging
Transcript: ENSMUST00000019118
AA Change: I330N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000019118
Gene: ENSMUSG00000018974
AA Change: I330N

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
low complexity region	11	33	N/A	INTRINSIC
low complexity region	42	50	N/A	INTRINSIC
low complexity region	65	93	N/A	INTRINSIC
HAT	127	159	1.76e1	SMART
HAT	165	196	4.82e-1	SMART
HAT	202	238	1.53e-3	SMART
low complexity region	269	281	N/A	INTRINSIC
HAT	325	357	1.78e-4	SMART
HAT	360	392	7.83e-1	SMART
HAT	395	431	7.56e0	SMART
HAT	488	521	7.31e-1	SMART
coiled coil region	554	619	N/A	INTRINSIC
low complexity region	626	640	N/A	INTRINSIC
RRM	705	778	1.87e-14	SMART
RRM	802	874	3.2e-22	SMART
Pfam:LSM_int_assoc	877	937	3.1e-28	PFAM
Pfam:Lsm_interact	944	961	2e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196778

Predicted Effect

probably damaging
Transcript: ENSMUST00000197041
AA Change: I330N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143778
Gene: ENSMUSG00000018974
AA Change: I330N

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
low complexity region	11	33	N/A	INTRINSIC
low complexity region	42	50	N/A	INTRINSIC
low complexity region	65	93	N/A	INTRINSIC
HAT	127	159	1.76e1	SMART
HAT	165	196	4.82e-1	SMART
HAT	202	238	1.53e-3	SMART
low complexity region	269	281	N/A	INTRINSIC
Blast:HAT	292	323	1e-5	BLAST
HAT	325	357	1.33e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198097

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198556

Meta Mutation Damage Score

0.9210

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

100% (78/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an RNA-binding nuclear protein that is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is found to be an important cellular factor for HIV-1 gene expression and viral replication. It also associates transiently with U6 and U4/U6 snRNPs during the recycling phase of the spliceosome cycle. This encoded protein is thought to be involved in the regulation of mRNA splicing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in hematopoietic cells exhibit protection against the effects of 5-FU treatment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	T	C	10: 85,223,947 (GRCm39)	V252A	unknown	Het
Actn4	T	C	7: 28,604,044 (GRCm39)	I406V	probably benign	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Ank1	T	A	8: 23,606,114 (GRCm39)	F1124I	probably damaging	Het
Arhgap44	CTGCT	CTGCTTGCT	11: 64,922,910 (GRCm39)		probably null	Het
Atp9a	C	A	2: 168,476,790 (GRCm39)	V1000L	probably benign	Het
Bnip3	A	G	7: 138,511,033 (GRCm39)		probably benign	Het
Btnl6	T	A	17: 34,727,371 (GRCm39)	R386S	probably damaging	Het
Calcrl	A	G	2: 84,205,658 (GRCm39)	V11A	probably benign	Het
Cc2d1a	G	T	8: 84,863,571 (GRCm39)	A597D	possibly damaging	Het
Celsr3	A	G	9: 108,714,350 (GRCm39)	T1960A	probably benign	Het
Cfb	T	A	17: 35,081,078 (GRCm39)		probably null	Het
Chd8	A	G	14: 52,458,528 (GRCm39)	I860T	possibly damaging	Het
Col28a1	A	G	6: 8,168,102 (GRCm39)		probably null	Het
Crhr2	T	A	6: 55,068,277 (GRCm39)	T428S	probably damaging	Het
Crybg2	A	T	4: 133,819,388 (GRCm39)	I1753F	probably damaging	Het
Ctsq	A	T	13: 61,186,955 (GRCm39)	V46E	probably benign	Het
Cxcr1	T	C	1: 74,231,440 (GRCm39)	E194G	probably damaging	Het
Dop1a	A	T	9: 86,397,396 (GRCm39)	H900L	probably damaging	Het
Dpyd	T	A	3: 119,225,224 (GRCm39)	M999K	probably benign	Het
Gbp3	A	C	3: 142,273,560 (GRCm39)	D369A	possibly damaging	Het
Glmp	A	G	3: 88,232,495 (GRCm39)	E36G	probably damaging	Het
Gm10113	T	C	13: 46,330,919 (GRCm39)		noncoding transcript	Het
Gm6486	T	A	5: 3,120,846 (GRCm39)		noncoding transcript	Het
Gm973	T	G	1: 59,671,509 (GRCm39)	L891R	unknown	Het
Heatr3	C	T	8: 88,866,582 (GRCm39)	T8M	probably damaging	Het
Herc1	A	G	9: 66,352,831 (GRCm39)	M2106V	probably damaging	Het
Hfm1	A	T	5: 107,046,509 (GRCm39)		probably null	Het
Hspa14	A	G	2: 3,490,801 (GRCm39)	V462A	possibly damaging	Het
Hspa5	C	A	2: 34,665,761 (GRCm39)	T535K	possibly damaging	Het
Ift140	A	G	17: 25,274,563 (GRCm39)	D745G	probably benign	Het
Ift27	A	T	15: 78,057,981 (GRCm39)	C8S	possibly damaging	Het
Irak1bp1	G	A	9: 82,728,616 (GRCm39)	W182*	probably null	Het
Itga3	A	G	11: 94,953,541 (GRCm39)	I236T	probably benign	Het
Kctd15	T	A	7: 34,349,547 (GRCm39)	N26Y	possibly damaging	Het
Kdm1b	T	C	13: 47,232,729 (GRCm39)	V733A	possibly damaging	Het
Lhx8	A	T	3: 154,027,340 (GRCm39)	L234H	probably damaging	Het
Lrp2	T	A	2: 69,337,098 (GRCm39)	T1225S	probably damaging	Het
Lrrn1	G	A	6: 107,545,488 (GRCm39)	D429N	probably benign	Het
Mettl3	A	T	14: 52,536,243 (GRCm39)	N200K	possibly damaging	Het
Mixl1	G	T	1: 180,524,336 (GRCm39)	A81D	possibly damaging	Het
Mroh2b	T	C	15: 4,980,763 (GRCm39)	I1444T	probably benign	Het
Muc15	T	A	2: 110,561,786 (GRCm39)	L74*	probably null	Het
Olfm2	T	A	9: 20,579,824 (GRCm39)	Y317F	probably damaging	Het
Or52a33	C	T	7: 103,288,886 (GRCm39)	V154M	probably benign	Het
Or5b114-ps1	G	A	19: 13,352,698 (GRCm39)	S124N	probably benign	Het
Or5p54	T	A	7: 107,554,001 (GRCm39)	I51N	probably benign	Het
Pclo	A	T	5: 14,763,302 (GRCm39)	Y3925F	unknown	Het
Pik3c2g	A	T	6: 139,599,137 (GRCm39)	R84S	probably damaging	Het
Pik3c2g	A	G	6: 139,842,518 (GRCm39)	Q449R	probably damaging	Het
Psg28	T	C	7: 18,160,305 (GRCm39)	E297G	probably damaging	Het
Qrich2	A	T	11: 116,337,832 (GRCm39)		probably benign	Het
Rgs9	A	G	11: 109,130,386 (GRCm39)	I363T	probably damaging	Het
Rnpepl1	A	G	1: 92,844,543 (GRCm39)	D345G	probably damaging	Het
Rtn4	T	A	11: 29,658,023 (GRCm39)	F726I	probably damaging	Het
Scn5a	T	C	9: 119,391,440 (GRCm39)	D84G	probably damaging	Het
Sema4a	T	C	3: 88,348,008 (GRCm39)	T438A	probably damaging	Het
Sfxn1	A	C	13: 54,242,961 (GRCm39)	Y73S	probably benign	Het
Slc24a2	A	G	4: 86,914,882 (GRCm39)	M585T	probably damaging	Het
Slc26a7	A	G	4: 14,505,471 (GRCm39)	V656A	probably benign	Het
Smok2a	T	G	17: 13,445,021 (GRCm39)	D199E	probably benign	Het
Tbc1d10c	T	C	19: 4,235,030 (GRCm39)	I344V	probably benign	Het
Tll1	A	T	8: 64,506,925 (GRCm39)	Y605*	probably null	Het
Trim75	G	A	8: 65,435,535 (GRCm39)	P305L	probably damaging	Het
Unc13c	T	C	9: 73,838,166 (GRCm39)	N895S	probably benign	Het
Vmn2r25	A	T	6: 123,799,876 (GRCm39)	I822N	probably damaging	Het
Wasf3	T	G	5: 146,407,166 (GRCm39)	D495E	unknown	Het
Wdhd1	T	A	14: 47,510,667 (GRCm39)	K119*	probably null	Het
Wnt2b	T	A	3: 104,858,339 (GRCm39)	D310V	probably damaging	Het
Zfat	G	T	15: 68,052,626 (GRCm39)	D389E	probably damaging	Het
Zfp282	G	A	6: 47,857,102 (GRCm39)	V112M	probably damaging	Het
Zfp617	A	T	8: 72,687,257 (GRCm39)	K529I	probably damaging	Het
Zfp866	A	T	8: 70,218,373 (GRCm39)	C416S	probably damaging	Het
Zfp991	G	A	4: 147,264,222 (GRCm39)	G533D	probably benign	Het

Other mutations in Sart3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Sart3	APN	5	113,884,730 (GRCm39)	missense	probably benign
IGL01309:Sart3	APN	5	113,897,311 (GRCm39)	missense	probably damaging	1.00
IGL01844:Sart3	APN	5	113,883,709 (GRCm39)	nonsense	probably null
IGL02147:Sart3	APN	5	113,901,004 (GRCm39)	splice site	probably benign
R0048:Sart3	UTSW	5	113,893,458 (GRCm39)	missense	possibly damaging	0.92
R0048:Sart3	UTSW	5	113,893,458 (GRCm39)	missense	possibly damaging	0.92
R0268:Sart3	UTSW	5	113,890,460 (GRCm39)	missense	probably damaging	0.99
R1703:Sart3	UTSW	5	113,890,280 (GRCm39)	missense	probably benign	0.22
R1704:Sart3	UTSW	5	113,884,068 (GRCm39)	missense	probably benign	0.14
R1998:Sart3	UTSW	5	113,885,982 (GRCm39)	critical splice donor site	probably null
R2142:Sart3	UTSW	5	113,902,154 (GRCm39)	missense	probably damaging	0.97
R3893:Sart3	UTSW	5	113,884,697 (GRCm39)	missense	probably benign	0.00
R3895:Sart3	UTSW	5	113,890,488 (GRCm39)	nonsense	probably null
R4231:Sart3	UTSW	5	113,909,479 (GRCm39)	missense	probably benign
R5367:Sart3	UTSW	5	113,897,277 (GRCm39)	splice site	probably null
R5488:Sart3	UTSW	5	113,909,441 (GRCm39)	missense	probably damaging	1.00
R5489:Sart3	UTSW	5	113,909,441 (GRCm39)	missense	probably damaging	1.00
R5668:Sart3	UTSW	5	113,883,217 (GRCm39)	splice site	probably null
R5903:Sart3	UTSW	5	113,889,300 (GRCm39)	missense	probably damaging	0.98
R6173:Sart3	UTSW	5	113,881,267 (GRCm39)	missense	probably benign	0.11
R6215:Sart3	UTSW	5	113,881,267 (GRCm39)	missense	probably benign	0.11
R6216:Sart3	UTSW	5	113,881,267 (GRCm39)	missense	probably benign	0.11
R6221:Sart3	UTSW	5	113,881,267 (GRCm39)	missense	probably benign	0.11
R6222:Sart3	UTSW	5	113,881,267 (GRCm39)	missense	probably benign	0.11
R6320:Sart3	UTSW	5	113,889,301 (GRCm39)	missense	probably benign	0.34
R6824:Sart3	UTSW	5	113,882,600 (GRCm39)	splice site	probably null
R6978:Sart3	UTSW	5	113,883,807 (GRCm39)	missense	probably damaging	0.97
R7062:Sart3	UTSW	5	113,883,663 (GRCm39)	missense	possibly damaging	0.49
R7162:Sart3	UTSW	5	113,900,896 (GRCm39)	missense	probably damaging	1.00
R7165:Sart3	UTSW	5	113,884,056 (GRCm39)	missense	probably benign	0.01
R7222:Sart3	UTSW	5	113,884,717 (GRCm39)	missense	probably benign	0.01
R7235:Sart3	UTSW	5	113,891,703 (GRCm39)	missense	probably damaging	1.00
R7237:Sart3	UTSW	5	113,892,307 (GRCm39)	missense	possibly damaging	0.70
R7340:Sart3	UTSW	5	113,882,728 (GRCm39)	missense	probably benign	0.02
R7580:Sart3	UTSW	5	113,892,440 (GRCm39)	splice site	probably null
R7637:Sart3	UTSW	5	113,909,413 (GRCm39)	missense	probably benign	0.14
R8146:Sart3	UTSW	5	113,886,018 (GRCm39)	missense	probably damaging	0.98
R8241:Sart3	UTSW	5	113,884,029 (GRCm39)	missense	probably benign	0.32
R8708:Sart3	UTSW	5	113,882,728 (GRCm39)	missense	possibly damaging	0.58
R9089:Sart3	UTSW	5	113,891,756 (GRCm39)	missense	possibly damaging	0.63
R9106:Sart3	UTSW	5	113,892,410 (GRCm39)	missense	possibly damaging	0.90
R9312:Sart3	UTSW	5	113,900,935 (GRCm39)	missense	possibly damaging	0.81
X0058:Sart3	UTSW	5	113,883,989 (GRCm39)	missense	probably benign
Z1176:Sart3	UTSW	5	113,883,885 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGTCATGGAAAGGTAGCACG -3'
(R):5'- GTTCTGAGCAAGAAGCCCTG -3'

Sequencing Primer
(F):5'- GCACGGAACTGTTAGACAAGTTCTC -3'
(R):5'- GCTCTCATGGGTTAGCTGCTC -3'

Posted On

2017-07-14