Mutagenetix > Incidental Mutation

Incidental Mutation 'R7340:Sart3'

569758

Institutional Source

Beutler Lab

Gene Symbol

Sart3

Ensembl Gene

ENSMUSG00000018974

Gene Name

squamous cell carcinoma antigen recognized by T cells 3

Synonyms

MMRRC Submission

045430-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R7340 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113880505-113910461 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113882728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 864 (M864T)

Ref Sequence

ENSEMBL: ENSMUSP00000019118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019118] [ENSMUST00000065698] [ENSMUST00000197041]

AlphaFold

Q9JLI8

Predicted Effect

probably benign
Transcript: ENSMUST00000019118
AA Change: M864T

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000019118
Gene: ENSMUSG00000018974
AA Change: M864T

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: ENSMUST00000065698

SMART Domains

Protein: ENSMUSP00000071719
Gene: ENSMUSG00000053334

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
SCOP:d1elwa_	105	180	2e-8	SMART
Pfam:Fic	284	381	1.8e-29	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

0.0639

Coding Region Coverage

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

Validation Efficiency

99% (83/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Adam30	A	T	3: 98,069,637 (GRCm39)	N490I	probably benign	Het
Ankrd55	A	T	13: 112,492,497 (GRCm39)	I223F	probably damaging	Het
Ano8	T	A	8: 71,935,655 (GRCm39)	E321V	probably damaging	Het
Apc2	A	G	10: 80,149,316 (GRCm39)	K1457E	probably benign	Het
Asb15	T	A	6: 24,558,513 (GRCm39)	V38E	probably benign	Het
Atp4a	T	C	7: 30,416,155 (GRCm39)	S417P	possibly damaging	Het
AY358078	A	G	14: 52,063,716 (GRCm39)	N454S	probably damaging	Het
Cables2	A	G	2: 179,903,450 (GRCm39)	Y245H		Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,157,152 (GRCm39)		probably benign	Het
Camsap3	G	A	8: 3,637,960 (GRCm39)		probably null	Het
Ccdc178	A	T	18: 22,150,518 (GRCm39)	V705E	probably benign	Het
Ccdc47	T	C	11: 106,091,799 (GRCm39)	Q472R	possibly damaging	Het
Ccdc62	A	G	5: 124,089,283 (GRCm39)	D307G	probably damaging	Het
Cdcp3	A	G	7: 130,879,344 (GRCm39)	T1788A	unknown	Het
Cdh23	A	G	10: 60,366,775 (GRCm39)	I235T	probably benign	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cfap65	T	C	1: 74,960,742 (GRCm39)	N743D	probably benign	Het
Cimap1b	T	A	15: 89,262,610 (GRCm39)	T116S	probably benign	Het
Clec16a	A	G	16: 10,398,827 (GRCm39)	N329S	probably null	Het
Col25a1	A	G	3: 130,340,006 (GRCm39)		probably null	Het
Daam1	T	G	12: 72,035,713 (GRCm39)	D969E	probably benign	Het
Dntt	A	C	19: 41,047,004 (GRCm39)		probably null	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Dst	T	A	1: 34,229,810 (GRCm39)	Y2468N	probably benign	Het
Exosc9	A	G	3: 36,615,297 (GRCm39)	T262A	possibly damaging	Het
Exph5	G	A	9: 53,288,309 (GRCm39)	A1797T	probably damaging	Het
Fbp2	A	T	13: 62,985,061 (GRCm39)	Y287N	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Fus	T	A	7: 127,581,123 (GRCm39)		probably null	Het
Galnt9	T	A	5: 110,762,054 (GRCm39)	N397K	probably damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gga1	A	G	15: 78,775,651 (GRCm39)	T369A	probably benign	Het
Gp1ba	T	C	11: 70,531,119 (GRCm39)	I295T	unknown	Het
Hk2	T	C	6: 82,705,873 (GRCm39)	E810G	probably benign	Het
Igsf10	A	G	3: 59,233,189 (GRCm39)	V1848A	probably damaging	Het
Insrr	G	A	3: 87,721,623 (GRCm39)		probably null	Het
Ip6k3	T	A	17: 27,367,504 (GRCm39)	M231L	probably benign	Het
Itgb8	T	C	12: 119,155,939 (GRCm39)	N171S	probably benign	Het
Ldlrad3	T	C	2: 101,897,184 (GRCm39)		probably null	Het
Ltbp1	T	A	17: 75,634,223 (GRCm39)	C886*	probably null	Het
Mettl13	T	C	1: 162,366,547 (GRCm39)	D444G	probably benign	Het
Mns1	A	G	9: 72,356,025 (GRCm39)	Y224C	probably damaging	Het
Mri1	C	T	8: 84,983,525 (GRCm39)	R122Q	probably benign	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myo5c	A	C	9: 75,196,423 (GRCm39)	K1290Q	probably benign	Het
Nlrp12	T	G	7: 3,281,755 (GRCm39)	Q842H	possibly damaging	Het
Oga	G	A	19: 45,755,895 (GRCm39)	Q583*	probably null	Het
Or14c44	T	C	7: 86,061,957 (GRCm39)	L129P	possibly damaging	Het
Or14j8	T	A	17: 38,263,413 (GRCm39)	R167S	probably benign	Het
Or2t1	A	T	14: 14,328,401 (GRCm38)	T97S	possibly damaging	Het
Or5d39	T	C	2: 87,979,620 (GRCm39)	T248A	possibly damaging	Het
Otoa	A	G	7: 120,729,288 (GRCm39)	T554A	probably benign	Het
Per1	A	G	11: 68,994,008 (GRCm39)	D438G	probably damaging	Het
Phactr3	G	A	2: 177,975,854 (GRCm39)	R533H	probably damaging	Het
Phykpl	T	C	11: 51,490,370 (GRCm39)	F417S	probably damaging	Het
Pole	A	T	5: 110,482,330 (GRCm39)	T2057S	probably benign	Het
Polq	A	G	16: 36,881,288 (GRCm39)	T1151A	probably benign	Het
Polr1g	T	C	7: 19,093,073 (GRCm39)	T36A	probably benign	Het
Rbm26	A	T	14: 105,389,976 (GRCm39)	V216E	possibly damaging	Het
Ryk	T	C	9: 102,775,737 (GRCm39)	I449T	probably damaging	Het
Sap25	A	G	5: 137,640,935 (GRCm39)	T225A	probably benign	Het
Sec31b	T	C	19: 44,517,161 (GRCm39)	S280G	probably benign	Het
Sema4d	A	T	13: 51,877,598 (GRCm39)	I78N	probably damaging	Het
Sgip1	G	C	4: 102,778,661 (GRCm39)	R419S	unknown	Het
Slc13a3	T	C	2: 165,272,210 (GRCm39)	I278V	probably benign	Het
Slc2a5	A	G	4: 150,224,439 (GRCm39)	D312G	probably benign	Het
Slc39a2	A	T	14: 52,131,660 (GRCm39)	Q77L	possibly damaging	Het
Srbd1	A	T	17: 86,443,782 (GRCm39)	V148E	probably benign	Het
Syngr2	A	G	11: 117,703,322 (GRCm39)	E46G	probably damaging	Het
Taok1	A	G	11: 77,470,643 (GRCm39)	V54A	possibly damaging	Het
Tas2r106	T	A	6: 131,655,185 (GRCm39)	H222L	probably damaging	Het
Tcaf3	A	G	6: 42,566,848 (GRCm39)	I747T	probably benign	Het
Tmem151b	G	T	17: 45,856,195 (GRCm39)	P415Q	probably benign	Het
Tmf1	T	C	6: 97,145,061 (GRCm39)	D659G	possibly damaging	Het
Tnn	G	T	1: 159,973,592 (GRCm39)	D258E	probably damaging	Het
Traj33	A	G	14: 54,422,862 (GRCm39)	I16V	unknown	Het
Ttll13	G	T	7: 79,906,772 (GRCm39)	C480F	probably damaging	Het
Ttn	T	C	2: 76,714,415 (GRCm39)	N8137S	unknown	Het
Vmn1r85	T	C	7: 12,819,073 (GRCm39)	N24D	probably damaging	Het
Wdr81	T	C	11: 75,335,525 (GRCm39)	Q649R	probably null	Het
Zan	T	C	5: 137,382,092 (GRCm39)	T5152A	unknown	Het
Zc3h6	A	G	2: 128,835,110 (GRCm39)	D82G	possibly damaging	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
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'- TGAGTCTCAGCAATGGCCAG -3'
(R):5'- ACAGTTTCTTTCCCTGGGGC -3'

Sequencing Primer
(F):5'- CAATGGCCAGGGCAGATCTG -3'
(R):5'- CAGATTTTAGTCAGTGACAGCCAG -3'

Posted On

2019-09-13