Mutagenetix > Incidental Mutation

Incidental Mutation 'R8905:Cars1'

680033

Institutional Source

Beutler Lab

Gene Symbol

Cars1

Ensembl Gene

ENSMUSG00000010755

Gene Name

cysteinyl-tRNA synthetase 1

Synonyms

Cars, CA3

MMRRC Submission

068762-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8905 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143110967-143153827 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143140196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 170 (Y170H)

Ref Sequence

ENSEMBL: ENSMUSP00000010899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010899] [ENSMUST00000105909] [ENSMUST00000154022]

AlphaFold

Q9ER72

Predicted Effect

probably damaging
Transcript: ENSMUST00000010899
AA Change: Y170H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000010899
Gene: ENSMUSG00000010755
AA Change: Y170H

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: Y87H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101529
Gene: ENSMUSG00000010755
AA Change: Y87H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (77/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	T	C	4: 137,182,553 (GRCm39)	V236A	probably benign	Het
Abca15	A	T	7: 119,960,771 (GRCm39)	R744S	probably benign	Het
Adgra1	T	C	7: 139,455,763 (GRCm39)	S464P	probably damaging	Het
Arhgap45	T	C	10: 79,855,570 (GRCm39)	V3A	probably benign	Het
AW554918	T	A	18: 25,473,206 (GRCm39)	S134T	probably damaging	Het
Bmper	A	G	9: 23,318,082 (GRCm39)	E567G	probably benign	Het
C2cd3	T	C	7: 100,074,132 (GRCm39)		probably null	Het
Celsr1	A	T	15: 85,788,269 (GRCm39)		probably benign	Het
Celsr3	C	T	9: 108,718,501 (GRCm39)	H2351Y	probably damaging	Het
Cfap210	A	G	2: 69,612,104 (GRCm39)	S175P	probably benign	Het
Clxn	A	G	16: 14,738,275 (GRCm39)	I147V	possibly damaging	Het
Cyp2d11	T	C	15: 82,275,102 (GRCm39)	I282V	probably benign	Het
Dhfr	A	G	13: 92,494,467 (GRCm39)	T57A	probably damaging	Het
Dhrs7l	T	A	12: 72,666,431 (GRCm39)	D80V	probably damaging	Het
Dnah7b	A	C	1: 46,292,534 (GRCm39)	Q2973P	probably damaging	Het
Dnajc5b	T	C	3: 19,633,184 (GRCm39)	C136R	probably benign	Het
Ercc3	T	G	18: 32,398,771 (GRCm39)	D683E	possibly damaging	Het
Faxc	A	G	4: 21,982,398 (GRCm39)	Y279C	probably damaging	Het
Fbxw7	T	C	3: 84,872,634 (GRCm39)	M191T	possibly damaging	Het
Fcgbp	T	A	7: 27,785,934 (GRCm39)	V457E	probably damaging	Het
Fip1l1	A	T	5: 74,756,624 (GRCm39)	T539S	probably damaging	Het
Gabra1	T	C	11: 42,038,052 (GRCm39)	T189A	possibly damaging	Het
Glg1	T	C	8: 111,884,668 (GRCm39)	D1118G	probably damaging	Het
Gli3	A	G	13: 15,901,116 (GRCm39)	D1501G	probably benign	Het
Hacd1	A	G	2: 14,049,761 (GRCm39)	I91T	possibly damaging	Het
Ift22	T	C	5: 136,941,745 (GRCm39)	V159A	probably benign	Het
Igkv1-110	T	A	6: 68,248,070 (GRCm39)	Y60N	probably damaging	Het
Inpp5d	A	G	1: 87,637,348 (GRCm39)	K502E	probably damaging	Het
Kcnt2	A	T	1: 140,435,467 (GRCm39)	Q478L	possibly damaging	Het
Mettl13	A	G	1: 162,364,847 (GRCm39)	F511L	probably damaging	Het
Mis18bp1	T	C	12: 65,180,401 (GRCm39)		probably null	Het
Mrps30	A	T	13: 118,523,479 (GRCm39)	S98T	probably benign	Het
Muc2	C	T	7: 141,279,643 (GRCm39)	A209V	probably benign	Het
Nfs1	A	T	2: 155,970,503 (GRCm39)	I270N	probably damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Nsmaf	A	G	4: 6,424,951 (GRCm39)	S266P	probably benign	Het
Obscn	A	G	11: 58,960,784 (GRCm39)	S3176P	probably damaging	Het
Or4c123	A	T	2: 89,126,801 (GRCm39)	L271Q	possibly damaging	Het
Or7g12	A	G	9: 18,899,494 (GRCm39)	D70G	possibly damaging	Het
P2ry12	T	A	3: 59,124,997 (GRCm39)	Y226F	probably damaging	Het
Pabpc2	C	A	18: 39,907,704 (GRCm39)	T323K	probably benign	Het
Pank2	A	G	2: 131,124,646 (GRCm39)	D71G	possibly damaging	Het
Patj	A	T	4: 98,385,412 (GRCm39)	H393L	probably damaging	Het
Pde8b	A	G	13: 95,182,993 (GRCm39)	V255A	probably damaging	Het
Plekhs1	T	C	19: 56,471,028 (GRCm39)	W374R	probably damaging	Het
Ppm1g	T	C	5: 31,361,437 (GRCm39)	D313G	probably damaging	Het
Rnf114	A	G	2: 167,353,134 (GRCm39)	N135S	probably benign	Het
Rnf43	T	G	11: 87,621,951 (GRCm39)	Y351D	probably damaging	Het
Robo1	A	T	16: 72,539,173 (GRCm39)	D90V	probably damaging	Het
Sbds	A	G	5: 130,277,125 (GRCm39)	V172A	possibly damaging	Het
Scamp5	T	A	9: 57,352,669 (GRCm39)	I167F	probably benign	Het
Sec14l5	A	G	16: 4,994,364 (GRCm39)	E386G	probably damaging	Het
Sfxn1	T	A	13: 54,246,433 (GRCm39)	V159E	probably damaging	Het
Sgsm1	C	T	5: 113,421,495 (GRCm39)	G531R	probably benign	Het
Slc22a26	T	A	19: 7,760,331 (GRCm39)	I471F	probably damaging	Het
Slc41a3	T	A	6: 90,589,123 (GRCm39)	M78K	probably benign	Het
Slc8a1	A	T	17: 81,749,084 (GRCm39)	Y653N	probably benign	Het
Slco6c1	A	T	1: 97,053,391 (GRCm39)	M170K	possibly damaging	Het
Smarca5	A	T	8: 81,440,577 (GRCm39)	I629K	probably benign	Het
Smg7	T	A	1: 152,715,817 (GRCm39)	D1099V	probably damaging	Het
Spata31e2	A	G	1: 26,721,895 (GRCm39)	V1095A	probably damaging	Het
Srbd1	T	C	17: 86,308,890 (GRCm39)	I763V	probably benign	Het
Stk25	A	G	1: 93,556,929 (GRCm39)	S30P	probably damaging	Het
Sv2b	C	T	7: 74,767,459 (GRCm39)	A646T	probably benign	Het
Tardbp	T	C	4: 148,705,093 (GRCm39)	M167V	probably benign	Het
Tmem132a	T	C	19: 10,842,647 (GRCm39)	N276S	probably damaging	Het
Ttpa	T	A	4: 20,028,435 (GRCm39)	S162T	probably benign	Het
Usp13	T	C	3: 32,935,572 (GRCm39)	Y333H	probably damaging	Het
Vmn2r3	T	A	3: 64,166,695 (GRCm39)	Y812F	probably damaging	Het
Yeats2	A	G	16: 20,009,144 (GRCm39)	T463A	probably benign	Het
Zbtb26	T	A	2: 37,326,927 (GRCm39)	K36N	probably benign	Het
Zfc3h1	A	T	10: 115,259,383 (GRCm39)	T1652S	probably benign	Het
Zfp472	G	A	17: 33,197,455 (GRCm39)	C510Y	possibly damaging	Het
Zfp518a	C	A	19: 40,902,780 (GRCm39)	T903K	probably damaging	Het
Zfp668	T	C	7: 127,465,598 (GRCm39)	T529A	probably benign	Het
Zfp930	A	G	8: 69,681,351 (GRCm39)	T349A	possibly damaging	Het
Zmiz2	T	G	11: 6,346,840 (GRCm39)	Y182D	probably 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
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
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
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'- TATTAGGCCAGACACGAGCCTG -3'
(R):5'- GTGGGTGCTCAGAAAACTTGG -3'

Sequencing Primer
(F):5'- AGCAGTCCTGTAAGTCCTTATGCAG -3'
(R):5'- GCTCAGAAAACTTGGATTTGGG -3'

Posted On

2021-08-31