Mutagenetix > Incidental Mutation

Incidental Mutation 'R9106:Sart3'

692007

Institutional Source

Beutler Lab

Gene Symbol

Sart3

Ensembl Gene

ENSMUSG00000018974

Gene Name

squamous cell carcinoma antigen recognized by T cells 3

Synonyms

MMRRC Submission

068970-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R9106 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113880505-113910461 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113892410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 363 (D363G)

Ref Sequence

ENSEMBL: ENSMUSP00000019118 (fasta)

Gene Model

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

AlphaFold

Q9JLI8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019118
AA Change: D363G

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000019118
Gene: ENSMUSG00000018974
AA Change: D363G

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

probably benign
Transcript: ENSMUST00000197041

SMART Domains

Protein: ENSMUSP00000143778
Gene: ENSMUSG00000018974

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

Meta Mutation Damage Score

0.1808

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (63/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	C	A	1: 179,614,601 (GRCm39)	K394N	probably benign	Het
Banp	A	T	8: 122,705,372 (GRCm39)	T81S	possibly damaging	Het
Btn2a2	T	C	13: 23,662,465 (GRCm39)	E495G	probably benign	Het
Cfap69	T	C	5: 5,690,190 (GRCm39)	I158M	possibly damaging	Het
Cgnl1	C	A	9: 71,628,873 (GRCm39)		probably benign	Het
Clip1	T	A	5: 123,753,223 (GRCm39)	Q186L	probably damaging	Het
Clspn	G	A	4: 126,471,243 (GRCm39)		probably benign	Het
Cnst	A	G	1: 179,432,162 (GRCm39)	E224G	probably damaging	Het
Ctdsp1	T	C	1: 74,433,884 (GRCm39)	L155P	probably damaging	Het
D5Ertd579e	C	T	5: 36,773,682 (GRCm39)	A238T	probably benign	Het
Dnah6	T	C	6: 73,121,752 (GRCm39)	Y1410C	probably damaging	Het
Fam186a	AGCCGCTGCCGCTGCCGCTGCCGC	AGCCGCTGCCGCTGCCGC	15: 99,844,107 (GRCm39)		probably benign	Het
Farp2	T	C	1: 93,488,910 (GRCm39)		probably null	Het
Galnt7	T	G	8: 57,985,729 (GRCm39)	D547A	probably damaging	Het
Gm1527	C	A	3: 28,956,440 (GRCm39)	D135E	probably damaging	Het
Grm5	T	C	7: 87,723,747 (GRCm39)	I679T	probably damaging	Het
Hectd4	C	A	5: 121,467,619 (GRCm39)	R2523S	possibly damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Htr1f	A	T	16: 64,746,637 (GRCm39)	S218R	probably damaging	Het
Lrit1	G	A	14: 36,776,891 (GRCm39)	A4T	unknown	Het
Ly6f	G	T	15: 75,141,706 (GRCm39)	D50Y	probably damaging	Het
Mafg	GGTTCTTCAGTGT	GGT	11: 120,520,415 (GRCm39)		probably null	Het
Map2	T	A	1: 66,454,522 (GRCm39)	Y1137*	probably null	Het
Map4k3	C	A	17: 81,035,257 (GRCm39)	R21L	possibly damaging	Het
Mapk10	A	T	5: 103,186,442 (GRCm39)	V90D	probably damaging	Het
Mapkapk3	T	A	9: 107,136,067 (GRCm39)	E219V	probably damaging	Het
Mideas	T	C	12: 84,199,327 (GRCm39)	Y1040C	probably damaging	Het
Mos	T	G	4: 3,871,457 (GRCm39)	I120L	probably benign	Het
Mrgprb4	A	G	7: 47,848,679 (GRCm39)	V83A	probably benign	Het
Mrnip	A	G	11: 50,065,768 (GRCm39)	Q19R	probably damaging	Het
Myrip	T	C	9: 120,261,544 (GRCm39)	S386P	probably benign	Het
Mzt2	A	G	16: 15,666,568 (GRCm39)	W141R	probably benign	Het
Ncam1	A	G	9: 49,428,856 (GRCm39)	Y710H	probably damaging	Het
Nlrp9c	G	T	7: 26,081,837 (GRCm39)	L630I	probably benign	Het
Odad2	A	T	18: 7,294,527 (GRCm39)	S29T	probably benign	Het
Oplah	C	A	15: 76,189,876 (GRCm39)	G150C	probably benign	Het
Or4c11b	A	G	2: 88,625,016 (GRCm39)	T97A	probably benign	Het
Or51q1	A	T	7: 103,628,581 (GRCm39)	M61L	probably damaging	Het
Or52a20	G	A	7: 103,366,737 (GRCm39)	C312Y	probably benign	Het
Or6k2	A	G	1: 173,986,369 (GRCm39)	Q10R	probably benign	Het
Patl1	A	G	19: 11,908,973 (GRCm39)	K460R	probably damaging	Het
Pdgfrb	A	T	18: 61,179,100 (GRCm39)		probably null	Het
Phldb2	T	C	16: 45,680,757 (GRCm39)	I17V	probably benign	Het
Ppp3r1	A	G	11: 17,144,789 (GRCm39)	D134G	probably damaging	Het
Ppp4r4	C	T	12: 103,570,315 (GRCm39)	T763I	probably benign	Het
Prmt9	A	G	8: 78,276,358 (GRCm39)	D61G	probably benign	Het
Ptk2	T	C	15: 73,131,457 (GRCm39)	M589V	possibly damaging	Het
Rabl6	A	G	2: 25,486,446 (GRCm39)	W153R	probably benign	Het
Rb1cc1	A	G	1: 6,319,109 (GRCm39)	I843V		Het
Resf1	T	C	6: 149,230,368 (GRCm39)	V1138A	possibly damaging	Het
Rnf19b	A	G	4: 128,977,940 (GRCm39)	E719G		Het
Sgo2a	C	A	1: 58,037,283 (GRCm39)	D9E	possibly damaging	Het
Slc27a5	A	G	7: 12,725,097 (GRCm39)	V450A	probably benign	Het
Slc8b1	T	A	5: 120,668,416 (GRCm39)	Y483N	probably damaging	Het
Slco1b2	A	G	6: 141,617,974 (GRCm39)	T475A	probably damaging	Het
Slfn3	T	C	11: 83,103,458 (GRCm39)	F110L	probably benign	Het
Spata31e5	T	C	1: 28,815,975 (GRCm39)	I686V	probably benign	Het
Ssr2	T	A	3: 88,495,269 (GRCm39)	Y175N	probably damaging	Het
Tagap	A	T	17: 8,150,280 (GRCm39)	N222Y	probably damaging	Het
Tecta	C	T	9: 42,278,479 (GRCm39)	V1010M	probably benign	Het
Trim36	A	T	18: 46,300,664 (GRCm39)	I669N	possibly damaging	Het
Ubp1	A	G	9: 113,799,319 (GRCm39)	T425A	probably benign	Het
Usp47	T	C	7: 111,681,713 (GRCm39)	I508T	probably damaging	Het
Vit	G	A	17: 78,934,278 (GRCm39)	D627N	probably damaging	Het
Vmn2r59	A	T	7: 41,695,884 (GRCm39)	I176N	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
R6046:Sart3	UTSW	5	113,893,507 (GRCm39)	missense	probably damaging	1.00
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
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'- TGGGCTCCACAGTGAGCTAC -3'
(R):5'- CATTTCCAGTGTGCTGTGC -3'

Sequencing Primer
(F):5'- TGAGCTACACAGGAAGAACACTCAG -3'
(R):5'- TTTCTCCTGGCTAAACCCTGAAAAG -3'

Posted On

2021-12-30