Mutagenetix > Incidental Mutation

Incidental Mutation 'R1828:Cars1'

207020

Institutional Source

Beutler Lab

Gene Symbol

Cars1

Ensembl Gene

ENSMUSG00000010755

Gene Name

cysteinyl-tRNA synthetase 1

Synonyms

Cars, CA3

MMRRC Submission

039855-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1828 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143110967-143153827 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143130385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 294 (I294V)

Ref Sequence

ENSEMBL: ENSMUSP00000010899 (fasta)

Gene Model

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

AlphaFold

Q9ER72

Predicted Effect

probably damaging
Transcript: ENSMUST00000010899
AA Change: I294V

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000010899
Gene: ENSMUSG00000010755
AA Change: I294V

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: I211V

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

SMART Domains

Protein: ENSMUSP00000101529
Gene: ENSMUSG00000010755
AA Change: I211V

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: ENSMUST00000146904

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130008F23Rik	T	C	17: 41,190,962 (GRCm39)	T156A	probably benign	Het
9230106D20Rik	A	T	10: 19,536,065 (GRCm39)		noncoding transcript	Het
Abca3	A	G	17: 24,585,171 (GRCm39)	D144G	probably benign	Het
Anxa2	T	A	9: 69,390,260 (GRCm39)	L121Q	probably damaging	Het
Anxa7	A	T	14: 20,512,732 (GRCm39)	I267N	probably damaging	Het
Asb14	A	T	14: 26,633,797 (GRCm39)	D334V	possibly damaging	Het
Batf3	A	G	1: 190,830,714 (GRCm39)	N20S	probably benign	Het
Bub1b	A	G	2: 118,468,920 (GRCm39)	H895R	probably benign	Het
C1qtnf12	G	A	4: 156,050,160 (GRCm39)		probably null	Het
Ccdc142	G	A	6: 83,084,462 (GRCm39)	A527T	probably damaging	Het
Ccdc168	A	T	1: 44,096,234 (GRCm39)	N1621K	possibly damaging	Het
Ccdc92	T	C	5: 124,913,242 (GRCm39)	N96D	probably benign	Het
Ceacam18	T	A	7: 43,288,880 (GRCm39)	D210E	probably benign	Het
Cenpe	A	G	3: 134,952,257 (GRCm39)	T1373A	probably damaging	Het
Cfap161	T	G	7: 83,440,932 (GRCm39)		probably null	Het
Cimip4	T	C	15: 78,270,588 (GRCm39)	Y60C	possibly damaging	Het
Cldn19	A	G	4: 119,112,990 (GRCm39)	D74G	probably benign	Het
Clec12a	A	G	6: 129,330,762 (GRCm39)	T115A	probably damaging	Het
Cox7a2l	T	A	17: 83,811,397 (GRCm39)	Q78L	probably benign	Het
Crot	T	C	5: 9,019,080 (GRCm39)	N491S	probably benign	Het
Cspg4b	T	A	13: 113,505,342 (GRCm39)	L2157Q	probably damaging	Het
Ctr9	A	G	7: 110,643,165 (GRCm39)		probably null	Het
Cyp4f14	T	G	17: 33,130,209 (GRCm39)	D190A	probably damaging	Het
D630039A03Rik	C	T	4: 57,910,240 (GRCm39)	V191I	probably benign	Het
Dnah10	A	T	5: 124,838,343 (GRCm39)	N1124I	probably benign	Het
Duox1	T	A	2: 122,177,861 (GRCm39)	Y1548*	probably null	Het
Epdr1	G	A	13: 19,778,773 (GRCm39)	Q6*	probably null	Het
Erbin	A	G	13: 103,996,577 (GRCm39)		probably null	Het
Ero1a	A	T	14: 45,525,217 (GRCm39)	I436K	probably damaging	Het
Exph5	A	T	9: 53,287,941 (GRCm39)	Q1674L	possibly damaging	Het
Fat4	A	T	3: 39,037,607 (GRCm39)	Y3753F	probably damaging	Het
Gaa	T	C	11: 119,174,098 (GRCm39)	V763A	probably damaging	Het
Golim4	G	A	3: 75,809,745 (GRCm39)	T216I	probably damaging	Het
Gpr83	G	T	9: 14,779,629 (GRCm39)	C269F	possibly damaging	Het
Gtf2f2	A	G	14: 76,245,143 (GRCm39)		probably null	Het
Gtf3c5	T	C	2: 28,469,694 (GRCm39)	Y70C	probably damaging	Het
Hao1	T	A	2: 134,372,584 (GRCm39)	R141S	probably benign	Het
Hecw2	T	C	1: 53,965,182 (GRCm39)	D548G	probably benign	Het
Hr	G	A	14: 70,809,477 (GRCm39)		probably null	Het
Hrg	A	C	16: 22,774,853 (GRCm39)	E161A	probably damaging	Het
Hydin	A	T	8: 111,237,526 (GRCm39)	N1933I	probably benign	Het
Itpr2	A	G	6: 146,229,830 (GRCm39)	L1255P	probably damaging	Het
Kcnma1	C	A	14: 23,380,997 (GRCm39)	D903Y	probably damaging	Het
Kif5c	T	C	2: 49,570,252 (GRCm39)		probably null	Het
Mgat5b	C	A	11: 116,868,614 (GRCm39)	H512Q	probably damaging	Het
Mtmr4	T	C	11: 87,502,943 (GRCm39)	V999A	probably benign	Het
Mttp	G	T	3: 137,813,041 (GRCm39)	Q545K	probably damaging	Het
Ncstn	CAGCTCCACGAAG	CAG	1: 171,899,038 (GRCm39)		probably null	Het
Nexn	A	G	3: 151,948,405 (GRCm39)	I386T	probably damaging	Het
Nrip3	A	G	7: 109,365,763 (GRCm39)	S85P	probably benign	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Olr1	T	C	6: 129,465,895 (GRCm39)	N37S	possibly damaging	Het
Or14j5	C	T	17: 38,161,966 (GRCm39)	A161V	probably benign	Het
Or4b1d	A	G	2: 89,968,931 (GRCm39)	L184S	probably damaging	Het
Or4c105	A	T	2: 88,648,402 (GRCm39)	I296F	probably benign	Het
Or55b3	A	G	7: 102,126,720 (GRCm39)	L119P	probably damaging	Het
Or5p80	G	T	7: 108,229,855 (GRCm39)	V219F	possibly damaging	Het
Pax4	T	C	6: 28,443,446 (GRCm39)	Y290C	probably benign	Het
Pcdhb2	T	A	18: 37,429,038 (GRCm39)	V337D	probably damaging	Het
Pglyrp4	T	C	3: 90,640,310 (GRCm39)	Y187H	probably damaging	Het
Pi4ka	A	G	16: 17,098,614 (GRCm39)	M2017T	probably benign	Het
Pkdrej	T	C	15: 85,703,483 (GRCm39)	T818A	possibly damaging	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Pygm	T	C	19: 6,447,637 (GRCm39)	I648T	possibly damaging	Het
Rab4a	A	T	8: 124,550,565 (GRCm39)	K15I	probably damaging	Het
Rasa3	T	C	8: 13,635,035 (GRCm39)	E428G	probably benign	Het
Rnf182	G	A	13: 43,822,010 (GRCm39)	W187*	probably null	Het
Rpl3	C	T	15: 79,964,591 (GRCm39)	V222M	possibly damaging	Het
Rtl9	C	T	X: 141,886,011 (GRCm39)	S1141F	possibly damaging	Het
S100a11	A	T	3: 93,433,428 (GRCm39)	I91F	probably benign	Het
Sfswap	C	T	5: 129,590,148 (GRCm39)	T215I	probably damaging	Het
Slit2	A	G	5: 48,461,372 (GRCm39)	D1456G	probably damaging	Het
Tex19.2	C	T	11: 121,008,317 (GRCm39)	V44I	probably benign	Het
Tmem127	G	A	2: 127,098,094 (GRCm39)		probably null	Het
Tpd52	G	T	3: 9,012,579 (GRCm39)	N59K	probably damaging	Het
Trpc3	G	A	3: 36,692,695 (GRCm39)	P766S	possibly damaging	Het
Usp17la	T	A	7: 104,510,331 (GRCm39)	V312D	probably damaging	Het
Xirp2	A	G	2: 67,345,582 (GRCm39)	N2608D	possibly damaging	Het
Zfp764l1	T	A	7: 126,991,081 (GRCm39)	H302L	probably damaging	Het
Zscan25	C	A	5: 145,227,858 (GRCm39)	H507Q	possibly damaging	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
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
R4923:Cars1	UTSW	7	143,123,587 (GRCm39)	missense	probably damaging	0.97
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'- CTTAGTCAGCAACTCACTGAGC -3'
(R):5'- TCACACTCATGGATGCTGTTC -3'

Sequencing Primer
(F):5'- CTCACTGAGCTTGCAAAATGAAG -3'
(R):5'- CTCATGGATGCTGTTCTGCAAGAC -3'

Posted On

2014-06-23