Mutagenetix > Incidental Mutation

Incidental Mutation 'R4923:Cars1'

378785

Institutional Source

Beutler Lab

Gene Symbol

Cars1

Ensembl Gene

ENSMUSG00000010755

Gene Name

cysteinyl-tRNA synthetase 1

Synonyms

Cars, CA3

MMRRC Submission

042525-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4923 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143110967-143153827 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143123587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 455 (Y455N)

Ref Sequence

ENSEMBL: ENSMUSP00000101529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010899] [ENSMUST00000105909]

AlphaFold

Q9ER72

Predicted Effect

possibly damaging
Transcript: ENSMUST00000010899
AA Change: Y538N

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000010899
Gene: ENSMUSG00000010755
AA Change: Y538N

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1e	124	537	2.7e-128	PFAM
Blast:DALR_2	584	644	2e-13	BLAST
coiled coil region	728	768	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105909
AA Change: Y455N

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101529
Gene: ENSMUSG00000010755
AA Change: Y455N

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1e	41	454	2e-129	PFAM
Pfam:tRNA-synt_1g	387	465	1.2e-6	PFAM
Blast:DALR_2	501	561	1e-13	BLAST
coiled coil region	645	685	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134753

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135032

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146462

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146904

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184553

Predicted Effect

probably benign
Transcript: ENSMUST00000208575

Meta Mutation Damage Score

0.2782

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

98% (107/109)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain on chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2010]

Allele List at MGI

All alleles(37) : Targeted, other(2) Gene trapped(35)

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aim2	A	G	1: 173,287,372 (GRCm39)	D124G	probably benign	Het
Akr1c6	T	C	13: 4,504,494 (GRCm39)	M293T	probably damaging	Het
Albfm1	A	G	5: 90,709,158 (GRCm39)	T23A	probably benign	Het
Ankhd1	A	G	18: 36,722,505 (GRCm39)	T343A	probably damaging	Het
Ano2	T	C	6: 125,880,018 (GRCm39)		probably benign	Het
Arfgap2	G	A	2: 91,104,004 (GRCm39)	G353R	probably damaging	Het
Armc3	A	G	2: 19,297,791 (GRCm39)		probably null	Het
Atp11b	T	C	3: 35,889,528 (GRCm39)		probably null	Het
Brd4	A	G	17: 32,418,214 (GRCm39)	M13T	probably benign	Het
Btd	T	A	14: 31,384,044 (GRCm39)	M10K	possibly damaging	Het
C1s2	T	C	6: 124,602,649 (GRCm39)	K515E	probably benign	Het
Ccdc110	A	G	8: 46,396,460 (GRCm39)	S784G	probably benign	Het
Chic2	A	G	5: 75,171,872 (GRCm39)		probably benign	Het
Chka	A	T	19: 3,942,105 (GRCm39)		probably null	Het
Chrne	A	G	11: 70,506,101 (GRCm39)	I420T	possibly damaging	Het
Clstn1	T	C	4: 149,729,486 (GRCm39)	V747A	probably benign	Het
Cobll1	A	G	2: 64,929,602 (GRCm39)	S575P	possibly damaging	Het
Col6a6	A	T	9: 105,666,147 (GRCm39)	L3Q	probably damaging	Het
Comtd1	A	T	14: 21,898,813 (GRCm39)		probably benign	Het
Cpsf2	T	C	12: 101,948,243 (GRCm39)	V13A	probably benign	Het
Creb3l4	T	A	3: 90,149,521 (GRCm39)	I115L	probably benign	Het
Cyp2j12	C	T	4: 95,990,346 (GRCm39)	A407T	possibly damaging	Het
Ddr2	A	G	1: 169,825,498 (GRCm39)		probably null	Het
Dennd4c	T	C	4: 86,725,775 (GRCm39)	L743P	probably damaging	Het
Egfl8	T	C	17: 34,833,171 (GRCm39)	T192A	probably benign	Het
Elapor1	C	T	3: 108,379,284 (GRCm39)		probably null	Het
Elf3	A	G	1: 135,184,473 (GRCm39)		probably benign	Het
Entrep2	A	G	7: 64,417,439 (GRCm39)	S322P	probably benign	Het
Etv3	T	G	3: 87,443,223 (GRCm39)	L269R	possibly damaging	Het
Fah	C	A	7: 84,251,260 (GRCm39)		probably benign	Het
Fbll1	C	A	11: 35,688,407 (GRCm39)	L285F	probably benign	Het
Fcrla	A	T	1: 170,748,682 (GRCm39)	F154I	probably damaging	Het
Fnip2	T	A	3: 79,396,701 (GRCm39)		probably null	Het
Focad	T	C	4: 88,115,083 (GRCm39)		probably benign	Het
Gabrr1	T	A	4: 33,162,820 (GRCm39)	I462N	possibly damaging	Het
Gm57859	C	A	11: 113,579,805 (GRCm39)	T400K	probably benign	Het
Gnptab	A	G	10: 88,265,485 (GRCm39)	T366A	probably benign	Het
Hnrnpu	G	A	1: 178,159,017 (GRCm39)		probably benign	Het
Il17ra	T	A	6: 120,454,406 (GRCm39)	V299E	possibly damaging	Het
Impg1	G	A	9: 80,252,360 (GRCm39)	Q607*	probably null	Het
Impg1	T	A	9: 80,252,827 (GRCm39)	E374V	probably damaging	Het
Itgax	C	T	7: 127,747,700 (GRCm39)	L1039F	probably benign	Het
Kcnk2	A	T	1: 189,072,133 (GRCm39)	V65D	probably damaging	Het
Kif20b	A	C	19: 34,918,611 (GRCm39)		probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lama5	T	G	2: 179,825,942 (GRCm39)	I2372L	probably benign	Het
Lilrb4a	A	G	10: 51,368,139 (GRCm39)	T85A	possibly damaging	Het
Mapk13	C	A	17: 28,997,197 (GRCm39)	H330N	probably benign	Het
Mars1	C	A	10: 127,132,549 (GRCm39)		probably benign	Het
Mdga1	C	A	17: 30,057,052 (GRCm39)	R818L	probably damaging	Het
Mdn1	T	A	4: 32,671,608 (GRCm39)	L476Q	possibly damaging	Het
Mup21	T	C	4: 62,066,202 (GRCm39)	E178G	probably benign	Het
Myg1	A	G	15: 102,240,288 (GRCm39)	N38S	probably benign	Het
Ncam1	A	T	9: 49,416,779 (GRCm39)	D837E	probably benign	Het
Ncam2	C	T	16: 81,386,679 (GRCm39)	P686L	possibly damaging	Het
Nck2	T	C	1: 43,500,231 (GRCm39)		probably benign	Het
Nfya	T	C	17: 48,707,563 (GRCm39)		probably benign	Het
Npat	A	G	9: 53,482,330 (GRCm39)	K1346R	probably damaging	Het
Odad2	C	G	18: 7,181,787 (GRCm39)	D846H	probably damaging	Het
Or12j3	G	T	7: 139,952,920 (GRCm39)	T201K	probably benign	Het
Or4a72	T	C	2: 89,406,023 (GRCm39)	T16A	probably damaging	Het
Or6c212	A	G	10: 129,558,681 (GRCm39)	V244A	probably benign	Het
Pde7b	G	T	10: 20,288,873 (GRCm39)	Q325K	probably damaging	Het
Pla2r1	A	T	2: 60,253,056 (GRCm39)	M1345K	probably benign	Het
Prkcz	T	C	4: 155,441,946 (GRCm39)	D62G	probably damaging	Het
Pros1	T	A	16: 62,723,935 (GRCm39)	C228S	possibly damaging	Het
Ptprc	A	G	1: 138,006,236 (GRCm39)	M782T	possibly damaging	Het
Rcn1	T	C	2: 105,219,518 (GRCm39)	D225G	probably benign	Het
Recql4	G	A	15: 76,594,381 (GRCm39)	R46C	probably damaging	Het
Rnf220	C	T	4: 117,346,797 (GRCm39)	R205Q	possibly damaging	Het
Samd13	T	C	3: 146,368,502 (GRCm39)	D11G	probably benign	Het
Scp2d1	T	A	2: 144,666,030 (GRCm39)	I123K	probably benign	Het
Skap1	A	T	11: 96,644,870 (GRCm39)	Y311F	probably damaging	Het
Slc2a10	T	C	2: 165,356,676 (GRCm39)	I112T	possibly damaging	Het
Slc34a1	G	A	13: 24,003,078 (GRCm39)	V243M	probably benign	Het
Slc39a2	G	A	14: 52,132,711 (GRCm39)	G218D	probably damaging	Het
Sos1	T	C	17: 80,742,381 (GRCm39)	N382S	probably benign	Het
Spam1	C	T	6: 24,796,655 (GRCm39)	T202I	probably damaging	Het
Tas2r138	T	A	6: 40,589,820 (GRCm39)	Q142L	possibly damaging	Het
Tec	T	A	5: 72,939,365 (GRCm39)	R217*	probably null	Het
Tmeff2	T	A	1: 50,969,804 (GRCm39)	V90D	probably benign	Het
Tmem119	T	C	5: 113,933,405 (GRCm39)	Y132C	probably damaging	Het
Topbp1	A	G	9: 103,190,035 (GRCm39)	I204V	probably benign	Het
Trappc14	A	T	5: 138,260,641 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,601,232 (GRCm39)	I17001N	probably damaging	Het
Vit	T	A	17: 78,894,270 (GRCm39)	M224K	probably benign	Het
Vmn1r179	T	G	7: 23,628,491 (GRCm39)	H227Q	possibly damaging	Het
Vmn1r84	T	C	7: 12,095,743 (GRCm39)	N305D	probably benign	Het
Vmn2r61	A	G	7: 41,916,520 (GRCm39)	N378D	probably damaging	Het
Vmn2r87	A	G	10: 130,314,435 (GRCm39)	Y384H	probably damaging	Het
Wiz	C	T	17: 32,580,570 (GRCm39)	A294T	probably benign	Het
Xdh	C	A	17: 74,231,931 (GRCm39)	V260L	possibly damaging	Het
Xirp2	A	G	2: 67,343,237 (GRCm39)	K1826R	probably benign	Het
Zfp445	A	C	9: 122,681,358 (GRCm39)	I861R	probably benign	Het
Zfp691	T	C	4: 119,027,999 (GRCm39)	T78A	probably benign	Het

Other mutations in Cars1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01155:Cars1	APN	7	143,123,586 (GRCm39)	missense	probably benign	0.03
IGL02192:Cars1	APN	7	143,125,325 (GRCm39)	missense	probably damaging	1.00
IGL02645:Cars1	APN	7	143,111,646 (GRCm39)	missense	probably damaging	0.97
IGL02807:Cars1	APN	7	143,123,209 (GRCm39)	missense	possibly damaging	0.87
IGL02860:Cars1	APN	7	143,140,158 (GRCm39)	missense	probably damaging	1.00
IGL03005:Cars1	APN	7	143,112,906 (GRCm39)	missense	probably damaging	1.00
Vroom	UTSW	7	143,124,385 (GRCm39)	missense	probably damaging	1.00
Zoom	UTSW	7	143,146,362 (GRCm39)	nonsense	probably null
BB001:Cars1	UTSW	7	143,123,608 (GRCm39)	missense	possibly damaging	0.88
BB011:Cars1	UTSW	7	143,123,608 (GRCm39)	missense	possibly damaging	0.88
F5493:Cars1	UTSW	7	143,123,608 (GRCm39)	missense	probably damaging	1.00
R0358:Cars1	UTSW	7	143,142,219 (GRCm39)	splice site	probably benign
R0452:Cars1	UTSW	7	143,146,362 (GRCm39)	nonsense	probably null
R0717:Cars1	UTSW	7	143,138,492 (GRCm39)	missense	probably damaging	0.98
R0930:Cars1	UTSW	7	143,124,307 (GRCm39)	missense	probably damaging	1.00
R1069:Cars1	UTSW	7	143,123,844 (GRCm39)	missense	probably benign	0.40
R1184:Cars1	UTSW	7	143,140,876 (GRCm39)	missense	probably damaging	1.00
R1503:Cars1	UTSW	7	143,122,726 (GRCm39)	missense	probably benign	0.04
R1755:Cars1	UTSW	7	143,123,194 (GRCm39)	missense	probably damaging	1.00
R1762:Cars1	UTSW	7	143,146,211 (GRCm39)	missense	probably damaging	1.00
R1783:Cars1	UTSW	7	143,146,211 (GRCm39)	missense	probably damaging	1.00
R1786:Cars1	UTSW	7	143,146,211 (GRCm39)	missense	probably damaging	1.00
R1828:Cars1	UTSW	7	143,130,385 (GRCm39)	missense	probably damaging	0.97
R2084:Cars1	UTSW	7	143,140,919 (GRCm39)	missense	probably benign	0.03
R2132:Cars1	UTSW	7	143,146,211 (GRCm39)	missense	probably damaging	1.00
R2133:Cars1	UTSW	7	143,146,211 (GRCm39)	missense	probably damaging	1.00
R2397:Cars1	UTSW	7	143,146,244 (GRCm39)	missense	possibly damaging	0.61
R4012:Cars1	UTSW	7	143,113,411 (GRCm39)	missense	possibly damaging	0.65
R4057:Cars1	UTSW	7	143,124,385 (GRCm39)	missense	probably damaging	1.00
R4082:Cars1	UTSW	7	143,123,234 (GRCm39)	missense	probably damaging	1.00
R4118:Cars1	UTSW	7	143,113,384 (GRCm39)	critical splice donor site	probably null
R4527:Cars1	UTSW	7	143,118,786 (GRCm39)	missense	probably benign	0.22
R4663:Cars1	UTSW	7	143,129,697 (GRCm39)	missense	probably damaging	1.00
R4758:Cars1	UTSW	7	143,125,304 (GRCm39)	missense	probably benign	0.01
R4820:Cars1	UTSW	7	143,124,301 (GRCm39)	missense	probably damaging	1.00
R4921:Cars1	UTSW	7	143,123,212 (GRCm39)	missense	probably damaging	1.00
R5512:Cars1	UTSW	7	143,123,870 (GRCm39)	missense	possibly damaging	0.91
R6505:Cars1	UTSW	7	143,118,744 (GRCm39)	missense	probably damaging	1.00
R7125:Cars1	UTSW	7	143,138,510 (GRCm39)	missense	probably benign	0.01
R7641:Cars1	UTSW	7	143,140,840 (GRCm39)	critical splice donor site	probably null
R7674:Cars1	UTSW	7	143,140,840 (GRCm39)	critical splice donor site	probably null
R7812:Cars1	UTSW	7	143,123,784 (GRCm39)	missense	probably damaging	1.00
R7924:Cars1	UTSW	7	143,123,608 (GRCm39)	missense	possibly damaging	0.88
R8260:Cars1	UTSW	7	143,139,446 (GRCm39)	missense	probably benign
R8447:Cars1	UTSW	7	143,123,766 (GRCm39)	missense	possibly damaging	0.67
R8905:Cars1	UTSW	7	143,140,196 (GRCm39)	missense	probably damaging	1.00
R9200:Cars1	UTSW	7	143,129,654 (GRCm39)	critical splice donor site	probably null
R9240:Cars1	UTSW	7	143,138,533 (GRCm39)	missense	probably benign	0.01
R9441:Cars1	UTSW	7	143,123,185 (GRCm39)	missense	probably benign	0.00
R9566:Cars1	UTSW	7	143,113,384 (GRCm39)	critical splice donor site	probably null
R9603:Cars1	UTSW	7	143,112,929 (GRCm39)	missense	possibly damaging	0.83
X0021:Cars1	UTSW	7	143,130,321 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CCTTGGGACAGAAACGTGAC -3'
(R):5'- AAGCACTCAGGTGAGCACAG -3'

Sequencing Primer
(F):5'- AAACGTGACATAGTCCCTGGGC -3'
(R):5'- CACAGCTGCTGCAGGAG -3'

Posted On

2016-04-15