Mutagenetix > Incidental Mutation

Incidental Mutation 'R6221:Sart3'

504012

Institutional Source

Beutler Lab

Gene Symbol

Sart3

Ensembl Gene

ENSMUSG00000018974

Gene Name

squamous cell carcinoma antigen recognized by T cells 3

Synonyms

MMRRC Submission

044432-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R6221 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113880505-113910461 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 113881267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 938 (A938T)

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: A938T

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000019118
Gene: ENSMUSG00000018974
AA Change: A938T

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

noncoding transcript
Transcript: ENSMUST00000196738

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198246

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

99% (66/67)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,824,874 (GRCm39)	M108V	probably benign	Het
Adgrl1	C	T	8: 84,664,316 (GRCm39)	Q1236*	probably null	Het
Adprhl1	T	C	8: 13,275,634 (GRCm39)	I375V	probably benign	Het
Bsn	A	G	9: 107,982,765 (GRCm39)	S3663P	unknown	Het
Cfap44	A	T	16: 44,257,549 (GRCm39)	Q1028L	probably benign	Het
Cftr	A	C	6: 18,282,500 (GRCm39)	T1067P	probably benign	Het
Col1a2	T	C	6: 4,539,490 (GRCm39)	S1253P	unknown	Het
Dkk3	A	G	7: 111,720,853 (GRCm39)	Y158H	probably damaging	Het
Dmxl1	A	G	18: 50,004,799 (GRCm39)	Y949C	probably damaging	Het
E130311K13Rik	T	C	3: 63,823,152 (GRCm39)	Y164C	probably benign	Het
Evx1	T	A	6: 52,293,768 (GRCm39)	V312E	probably damaging	Het
Fam240b	T	C	13: 64,629,591 (GRCm39)	N75S	probably benign	Het
Fat2	A	G	11: 55,186,898 (GRCm39)		probably null	Het
Fbn1	G	T	2: 125,162,841 (GRCm39)	D2148E	probably benign	Het
Fzd4	A	G	7: 89,054,100 (GRCm39)	H69R	probably damaging	Het
Fzd6	T	C	15: 38,894,239 (GRCm39)	V135A	probably benign	Het
Gimap8	T	C	6: 48,635,876 (GRCm39)	L547S	probably damaging	Het
Gnrhr	G	A	5: 86,333,262 (GRCm39)	Q203*	probably null	Het
Gpaa1	T	G	15: 76,218,032 (GRCm39)	V341G	probably benign	Het
Grik3	T	A	4: 125,598,916 (GRCm39)	L828Q	probably damaging	Het
Heatr5b	T	C	17: 79,074,383 (GRCm39)	N1568S	probably benign	Het
Hpf1	T	A	8: 61,346,808 (GRCm39)	V41E	probably damaging	Het
Hsd3b1	A	T	3: 98,760,472 (GRCm39)	M173K	probably benign	Het
Hsd3b6	A	G	3: 98,713,849 (GRCm39)	I150T	probably benign	Het
Ica1	C	G	6: 8,644,181 (GRCm39)	L369F	possibly damaging	Het
Inf2	T	G	12: 112,570,179 (GRCm39)	S293A	possibly damaging	Het
Klra10	T	C	6: 130,246,235 (GRCm39)	T247A	probably benign	Het
Kpna1	G	A	16: 35,841,058 (GRCm39)	G91D	probably benign	Het
Ldlrap1	C	T	4: 134,484,671 (GRCm39)	E108K	probably damaging	Het
Ltb4r2	C	T	14: 55,999,540 (GRCm39)	R54W	probably damaging	Het
Mki67	A	G	7: 135,299,643 (GRCm39)	F1797S	probably benign	Het
Mlh3	C	A	12: 85,315,192 (GRCm39)	Q331H	possibly damaging	Het
Nol11	G	T	11: 107,062,442 (GRCm39)	T598K	possibly damaging	Het
Odad1	T	C	7: 45,596,903 (GRCm39)	L410P	probably damaging	Het
Or5b124	T	A	19: 13,610,830 (GRCm39)	Y118*	probably null	Het
Oxct2b	T	C	4: 123,010,601 (GRCm39)	Y174H	probably damaging	Het
Pakap	C	T	4: 57,855,618 (GRCm39)	Q559*	probably null	Het
Pclo	G	A	5: 14,725,327 (GRCm39)	R1395Q	unknown	Het
Ppara	A	G	15: 85,661,881 (GRCm39)	I41V	probably benign	Het
Ppip5k2	A	T	1: 97,657,753 (GRCm39)	I766K	probably damaging	Het
Ppm1j	A	G	3: 104,693,092 (GRCm39)	N483S	possibly damaging	Het
Prex2	T	C	1: 11,336,236 (GRCm39)	I1478T	probably benign	Het
Ror2	T	C	13: 53,267,253 (GRCm39)	Y394C	probably damaging	Het
Rsl1d1	A	G	16: 11,019,175 (GRCm39)	V121A	probably damaging	Het
Slc15a1	T	C	14: 121,702,316 (GRCm39)	Q610R	probably null	Het
Slc1a6	A	G	10: 78,635,910 (GRCm39)	E325G	probably damaging	Het
Slc7a13	A	G	4: 19,839,305 (GRCm39)	I303V	probably benign	Het
Smc3	T	A	19: 53,630,362 (GRCm39)	V1123E	probably damaging	Het
Smco1	G	A	16: 32,092,023 (GRCm39)	V34I	probably benign	Het
Spag1	A	G	15: 36,197,949 (GRCm39)	R304G	probably benign	Het
Spata31f1e	A	T	4: 42,793,153 (GRCm39)	N326K	probably benign	Het
Spta1	A	G	1: 174,009,342 (GRCm39)	D293G	probably damaging	Het
Sspo	C	A	6: 48,440,639 (GRCm39)	P1751Q	probably damaging	Het
Syt14	A	T	1: 192,612,908 (GRCm39)	Y631N	probably damaging	Het
Taar3	A	G	10: 23,825,970 (GRCm39)	N172S	possibly damaging	Het
Tank	A	G	2: 61,480,427 (GRCm39)	E321G	probably damaging	Het
Tcstv5	T	G	13: 120,411,534 (GRCm39)	H24P	probably damaging	Het
Thbs1	C	A	2: 117,950,478 (GRCm39)	L704M	probably damaging	Het
Tmem116	C	T	5: 121,629,171 (GRCm39)	T188M	probably benign	Het
Togaram1	A	T	12: 65,013,320 (GRCm39)	E190D	probably damaging	Het
Traf1	A	C	2: 34,838,313 (GRCm39)	V175G	probably benign	Het
Trib3	A	T	2: 152,180,528 (GRCm39)	C222S	probably damaging	Het
Tsen34	T	A	7: 3,698,543 (GRCm39)	I229N	probably damaging	Het
Ttc28	A	G	5: 111,419,114 (GRCm39)	D1370G	probably benign	Het
Ugt1a5	G	A	1: 88,093,964 (GRCm39)	R64H	probably benign	Het
Vdac2	G	A	14: 21,895,246 (GRCm39)	G265R	possibly damaging	Het
Vdac3	A	G	8: 23,078,759 (GRCm39)	V17A	possibly damaging	Het
Yif1b	C	T	7: 28,945,207 (GRCm39)	T220I	possibly damaging	Het
Zfp846	T	G	9: 20,504,591 (GRCm39)	H150Q	possibly damaging	Het
Zwilch	A	T	9: 64,068,665 (GRCm39)	H181Q	probably 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
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'- ACCGCCATGTTCACCATAGG -3'
(R):5'- ATCCCAACATCTCAGTCCGG -3'

Sequencing Primer
(F):5'- TCCACACCAGAGGAGAATCTGTG -3'
(R):5'- GCTGGGGCCATGAGACC -3'

Posted On

2018-02-28