Mutagenetix > Incidental Mutation

Incidental Mutation 'R5712:Castor1'

450959

Institutional Source

Beutler Lab

Gene Symbol

Castor1

Ensembl Gene

ENSMUSG00000020424

Gene Name

cytosolic arginine sensor for mTORC1 subunit 1

Synonyms

2410008K03Rik, Gatsl3

MMRRC Submission

043334-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5712 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

4168225-4172409 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4168378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 22 (L22P)

Ref Sequence

ENSEMBL: ENSMUSP00000020699 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020699] [ENSMUST00000041042] [ENSMUST00000180088]

AlphaFold

Q9CWQ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000020699
AA Change: L22P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020699
Gene: ENSMUSG00000020424
AA Change: L22P

Domain	Start	End	E-Value	Type
Pfam:ACT_7	71	138	1.3e-19	PFAM
Pfam:ACT_7	257	321	3.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000041042

SMART Domains

Protein: ENSMUSP00000036861
Gene: ENSMUSG00000034412

Domain	Start	End	E-Value	Type
low complexity region	2	36	N/A	INTRINSIC
TBC	142	359	6e-59	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135089

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147485

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149465

Predicted Effect

probably benign
Transcript: ENSMUST00000180088

SMART Domains

Protein: ENSMUSP00000136453
Gene: ENSMUSG00000034412

Domain	Start	End	E-Value	Type
TBC	108	325	6e-59	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 144,981,563 (GRCm39)	T133A	probably benign	Het
Adcy8	C	T	15: 64,626,715 (GRCm39)	E708K	probably damaging	Het
Alkbh1	A	G	12: 87,475,883 (GRCm39)	C300R	probably benign	Het
Arhgap11a	T	C	2: 113,675,646 (GRCm39)	N52D	probably benign	Het
Ash1l	T	A	3: 88,959,297 (GRCm39)	S2225T	probably damaging	Het
Aspn	A	T	13: 49,716,995 (GRCm39)	Y257F	probably damaging	Het
Atp2b4	A	C	1: 133,658,278 (GRCm39)	V544G	probably damaging	Het
Bclaf1	T	G	10: 20,209,277 (GRCm39)	Y498D	probably damaging	Het
Cacna1d	A	G	14: 29,796,954 (GRCm39)	I1520T	probably damaging	Het
Cfap57	G	T	4: 118,471,992 (GRCm39)	P129Q	probably damaging	Het
Clcn3	A	G	8: 61,390,332 (GRCm39)		probably null	Het
Epx	A	T	11: 87,765,679 (GRCm39)	Y93*	probably null	Het
Erich6b	T	A	14: 75,896,340 (GRCm39)	D75E	possibly damaging	Het
Exoc3l4	T	A	12: 111,390,476 (GRCm39)	Y350*	probably null	Het
Fam13a	T	A	6: 58,933,684 (GRCm39)	D302V	probably damaging	Het
Fbxo17	G	A	7: 28,436,897 (GRCm39)	R284H	probably damaging	Het
Fga	C	T	3: 82,940,440 (GRCm39)	T698I	possibly damaging	Het
Fsip2	T	C	2: 82,839,192 (GRCm39)	S6987P	possibly damaging	Het
Gbp9	T	A	5: 105,242,421 (GRCm39)	N106I	possibly damaging	Het
Gls	T	A	1: 52,235,911 (GRCm39)	K401N	probably damaging	Het
Gpatch2l	A	G	12: 86,291,254 (GRCm39)	K146E	probably damaging	Het
Gpr3	A	G	4: 132,937,719 (GRCm39)	S318P	probably benign	Het
Kbtbd7	T	C	14: 79,666,205 (GRCm39)	V679A	possibly damaging	Het
Kcnu1	T	A	8: 26,409,678 (GRCm39)	L127H	probably damaging	Het
Lck	G	T	4: 129,450,103 (GRCm39)	H214Q	probably benign	Het
Lrch4	A	C	5: 137,636,188 (GRCm39)	S380R	possibly damaging	Het
Lrrk2	A	T	15: 91,586,425 (GRCm39)	K414*	probably null	Het
Maco1	A	T	4: 134,555,369 (GRCm39)	M368K	probably benign	Het
Med11	A	G	11: 70,344,058 (GRCm39)	E126G	probably damaging	Het
Mknk1	A	G	4: 115,712,203 (GRCm39)		probably null	Het
Mst1	T	C	9: 107,960,107 (GRCm39)	C355R	probably damaging	Het
Mtcl2	T	A	2: 156,872,841 (GRCm39)	E890V	probably damaging	Het
Myl10	T	C	5: 136,723,092 (GRCm39)	F14L	probably damaging	Het
Nfrkb	C	T	9: 31,325,932 (GRCm39)	T1125M	probably benign	Het
Nin	T	C	12: 70,089,543 (GRCm39)	T1291A	probably damaging	Het
Pcnt	T	C	10: 76,265,105 (GRCm39)	Q335R	probably damaging	Het
Phc2	A	G	4: 128,638,888 (GRCm39)	T83A	probably damaging	Het
Rdh19	T	A	10: 127,692,756 (GRCm39)	M141K	probably benign	Het
Rnf17	G	A	14: 56,708,856 (GRCm39)	V759I	probably benign	Het
Sirt7	A	T	11: 120,511,677 (GRCm39)	Y18*	probably null	Het
Slc27a5	T	C	7: 12,732,010 (GRCm39)		probably benign	Het
Synpo2	T	A	3: 122,914,859 (GRCm39)	I56F	probably damaging	Het
Tdrd6	C	A	17: 43,937,299 (GRCm39)	G1250C	probably damaging	Het
Tmem190	G	A	7: 4,787,288 (GRCm39)	G164D	probably damaging	Het
Tmigd1	T	C	11: 76,797,858 (GRCm39)	Y67H	probably damaging	Het
Trim3	T	A	7: 105,268,743 (GRCm39)	E70D	probably damaging	Het
Uap1	A	G	1: 169,994,414 (GRCm39)	F21L	possibly damaging	Het
Vmn1r176	A	T	7: 23,534,925 (GRCm39)	V76D	probably benign	Het
Vps13d	A	C	4: 144,813,743 (GRCm39)	S3245A	probably benign	Het
Wnt7a	T	C	6: 91,343,186 (GRCm39)	Y232C	probably damaging	Het
Zan	A	G	5: 137,398,360 (GRCm39)	V4224A	unknown	Het

Other mutations in Castor1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01096:Castor1	APN	11	4,171,850 (GRCm39)	missense	probably damaging	1.00
IGL03123:Castor1	APN	11	4,170,278 (GRCm39)	missense	probably damaging	1.00
R4739:Castor1	UTSW	11	4,169,004 (GRCm39)	missense	possibly damaging	0.69
R5425:Castor1	UTSW	11	4,171,689 (GRCm39)	missense	probably damaging	1.00
R6239:Castor1	UTSW	11	4,168,967 (GRCm39)	missense	possibly damaging	0.93
R6737:Castor1	UTSW	11	4,171,685 (GRCm39)	missense	probably damaging	1.00
R7197:Castor1	UTSW	11	4,168,949 (GRCm39)	missense	probably damaging	1.00
R7448:Castor1	UTSW	11	4,171,897 (GRCm39)	missense	not run
R7582:Castor1	UTSW	11	4,170,457 (GRCm39)	missense	probably benign	0.33
R8039:Castor1	UTSW	11	4,171,639 (GRCm39)	missense	probably damaging	0.99
R8447:Castor1	UTSW	11	4,170,165 (GRCm39)	missense	probably damaging	1.00
R8953:Castor1	UTSW	11	4,171,249 (GRCm39)	missense	probably benign	0.00
R9069:Castor1	UTSW	11	4,170,141 (GRCm39)	missense	probably benign	0.00
R9120:Castor1	UTSW	11	4,170,767 (GRCm39)	missense	possibly damaging	0.78
R9245:Castor1	UTSW	11	4,170,485 (GRCm39)	missense	probably damaging	0.98
R9328:Castor1	UTSW	11	4,170,423 (GRCm39)	missense	probably benign	0.12
R9632:Castor1	UTSW	11	4,169,015 (GRCm39)	missense	probably benign	0.00
R9710:Castor1	UTSW	11	4,169,015 (GRCm39)	missense	probably benign	0.00
T0975:Castor1	UTSW	11	4,170,445 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGCAGAGTTTGAAGGCAGC -3'
(R):5'- TTGCACCTTGACAAGCCCTG -3'

Sequencing Primer
(F):5'- TTTGAAGGCAGCCCGCAG -3'
(R):5'- TTGACAAGCCCTGGGAGC -3'

Posted On

2017-01-03