Mutagenetix > Incidental Mutation

Incidental Mutation 'R6970:Rsl1d1'

542216

Institutional Source

Beutler Lab

Gene Symbol

Rsl1d1

Ensembl Gene

ENSMUSG00000005846

Gene Name

ribosomal L1 domain containing 1

Synonyms

2410005K20Rik

MMRRC Submission

045080-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R6970 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11010901-11021156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11011558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 382 (D382V)

Ref Sequence

ENSEMBL: ENSMUSP00000113431 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119953] [ENSMUST00000230002]

AlphaFold

Q8BVY0

Predicted Effect

probably benign
Transcript: ENSMUST00000119953
AA Change: D382V

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113431
Gene: ENSMUSG00000005846
AA Change: D382V

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
Pfam:Ribosomal_L1	36	259	2.3e-52	PFAM
coiled coil region	281	313	N/A	INTRINSIC
low complexity region	331	342	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000230002

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	T	C	7: 131,036,044 (GRCm39)	Y285H	possibly damaging	Het
Adam17	A	G	12: 21,395,669 (GRCm39)	S285P	probably benign	Het
Adcy10	A	G	1: 165,384,485 (GRCm39)	N1082S	probably benign	Het
Ahdc1	T	A	4: 132,789,656 (GRCm39)	L299Q	possibly damaging	Het
Ambra1	T	A	2: 91,602,945 (GRCm39)		probably benign	Het
Arfgef1	T	C	1: 10,223,903 (GRCm39)	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,223,904 (GRCm39)	Q1465K	probably damaging	Het
Atp8a1	A	G	5: 67,895,805 (GRCm39)	V543A	probably damaging	Het
BC034090	T	A	1: 155,117,185 (GRCm39)	D311V	probably damaging	Het
Blnk	G	T	19: 40,950,821 (GRCm39)	P110Q	probably damaging	Het
Cc2d2a	A	G	5: 43,875,927 (GRCm39)	E968G	probably damaging	Het
Ccdc14	A	T	16: 34,529,903 (GRCm39)	E394V	probably damaging	Het
Ccdc162	A	T	10: 41,491,954 (GRCm39)	H1086Q	probably benign	Het
Ccdc85b	T	A	19: 5,507,248 (GRCm39)	I60F	probably damaging	Het
Ceacam20	T	A	7: 19,723,902 (GRCm39)	L562Q	probably damaging	Het
Cntrl	T	C	2: 35,008,149 (GRCm39)	F188L	probably benign	Het
Cplane1	T	C	15: 8,217,032 (GRCm39)	V750A	probably benign	Het
Dclk1	A	T	3: 55,374,022 (GRCm39)		probably benign	Het
Ddx20	A	T	3: 105,587,674 (GRCm39)	L434H	probably damaging	Het
Ddx51	G	A	5: 110,804,728 (GRCm39)	V547M	probably damaging	Het
Dnah11	T	A	12: 118,072,679 (GRCm39)	Q1472L	probably benign	Het
Dnajb13	T	C	7: 100,156,629 (GRCm39)	E149G	probably damaging	Het
Efcab3	A	G	11: 104,667,182 (GRCm39)	E1422G	probably benign	Het
Eif1ad8	G	T	12: 87,563,388 (GRCm39)		probably benign	Het
Fat4	A	G	3: 39,035,924 (GRCm39)	N3192S	probably damaging	Het
Fat4	A	T	3: 39,050,120 (GRCm39)	D3994V	probably damaging	Het
Fcgr1	C	A	3: 96,191,936 (GRCm39)		probably null	Het
Gm12185	G	A	11: 48,798,739 (GRCm39)	R585*	probably null	Het
Gm32687	A	G	10: 81,715,304 (GRCm39)	H232R	probably benign	Het
Gm5431	G	T	11: 48,779,317 (GRCm39)	A535D	probably damaging	Het
Jarid2	C	T	13: 45,056,461 (GRCm39)	P556S	probably damaging	Het
Map3k4	C	A	17: 12,467,803 (GRCm39)	G1077V	probably damaging	Het
Mast4	C	T	13: 102,941,155 (GRCm39)	V301I	probably damaging	Het
Mlxip	A	G	5: 123,583,735 (GRCm39)	T433A	possibly damaging	Het
Ms4a20	A	G	19: 11,089,678 (GRCm39)		probably null	Het
Mus81	G	T	19: 5,535,554 (GRCm39)	H199Q	probably benign	Het
Mylk3	G	A	8: 86,085,892 (GRCm39)	T54M	probably damaging	Het
Nalcn	A	G	14: 123,551,506 (GRCm39)	F1034L	possibly damaging	Het
Nfatc1	A	C	18: 80,710,228 (GRCm39)	S513A	probably benign	Het
Ninj2	A	G	6: 120,175,092 (GRCm39)	I88V	possibly damaging	Het
Nomo1	C	T	7: 45,695,391 (GRCm39)	P277L	probably damaging	Het
Nup214	C	T	2: 31,941,810 (GRCm39)	S571L	probably damaging	Het
Or10g9b	T	A	9: 39,918,009 (GRCm39)	M79L	probably benign	Het
Or5b3	T	A	19: 13,388,792 (GRCm39)	N286K	probably damaging	Het
Or9a7	T	C	6: 40,521,590 (GRCm39)	S108G	probably benign	Het
Pcdh15	C	T	10: 74,338,519 (GRCm39)	P1005S	probably damaging	Het
Pkhd1l1	G	A	15: 44,375,070 (GRCm39)	A942T	possibly damaging	Het
Plagl1	T	C	10: 13,000,860 (GRCm39)	C34R	probably damaging	Het
Plekha2	T	C	8: 25,549,280 (GRCm39)	Q168R	probably benign	Het
Plekha6	G	A	1: 133,191,556 (GRCm39)	A146T	probably benign	Het
Plekhm3	T	G	1: 64,931,912 (GRCm39)	K564T	possibly damaging	Het
Plpp2	A	G	10: 79,366,380 (GRCm39)	V26A	possibly damaging	Het
Prdm10	T	G	9: 31,241,119 (GRCm39)	Y302*	probably null	Het
Prdm8	A	G	5: 98,332,471 (GRCm39)	E124G	probably damaging	Het
Prg4	T	G	1: 150,331,657 (GRCm39)		probably benign	Het
Qser1	A	G	2: 104,618,475 (GRCm39)	V779A	probably benign	Het
Rbm39	G	A	2: 156,009,504 (GRCm39)	R123C	probably damaging	Het
Ric1	C	T	19: 29,565,172 (GRCm39)	P640S	probably damaging	Het
Rpl14	G	A	9: 120,403,293 (GRCm39)		probably benign	Het
Rubcn	G	T	16: 32,688,514 (GRCm39)		probably benign	Het
Sec16a	G	A	2: 26,320,498 (GRCm39)	R1361C	probably damaging	Het
Slc26a11	T	G	11: 119,247,798 (GRCm39)	V41G	probably damaging	Het
Slc41a2	A	G	10: 83,151,960 (GRCm39)	F172L	possibly damaging	Het
Slc4a4	A	C	5: 89,327,690 (GRCm39)	Y674S	probably damaging	Het
Spata31e3	A	T	13: 50,401,007 (GRCm39)	Y440N	possibly damaging	Het
Strc	A	C	2: 121,208,495 (GRCm39)	M292R	probably benign	Het
Syde2	A	G	3: 145,694,381 (GRCm39)	T210A	probably benign	Het
Tcf7l2	C	A	19: 55,743,480 (GRCm39)	A97E	probably benign	Het
Tenm3	C	T	8: 48,689,474 (GRCm39)	D2038N	probably damaging	Het
Tepsin	G	A	11: 119,986,190 (GRCm39)	T168M	probably damaging	Het
Tex15	A	T	8: 34,047,456 (GRCm39)	M178L	probably benign	Het
Tgfbr2	T	C	9: 115,939,119 (GRCm39)	N236S	probably damaging	Het
Tnrc18	A	G	5: 142,713,744 (GRCm39)	V2531A	probably damaging	Het
Ttn	T	G	2: 76,725,767 (GRCm39)		probably benign	Het
Tubgcp3	G	T	8: 12,687,000 (GRCm39)	D630E	probably damaging	Het
Ubr4	G	A	4: 139,133,839 (GRCm39)	W745*	probably null	Het
Vmn2r115	G	A	17: 23,564,989 (GRCm39)	G292D	probably benign	Het
Vmn2r38	T	A	7: 9,078,340 (GRCm39)	K681*	probably null	Het
Xrcc6	A	G	15: 81,915,375 (GRCm39)	K98E	probably benign	Het
Zfp423	A	G	8: 88,530,407 (GRCm39)	V13A	probably benign	Het
Zfp512b	A	G	2: 181,228,141 (GRCm39)	I5T	possibly damaging	Het
Zmynd8	C	T	2: 165,717,670 (GRCm39)	E14K	probably damaging	Het

Other mutations in Rsl1d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Rsl1d1	APN	16	11,017,558 (GRCm39)	missense	probably damaging	1.00
IGL01087:Rsl1d1	APN	16	11,012,539 (GRCm39)	missense	possibly damaging	0.85
IGL01998:Rsl1d1	APN	16	11,012,509 (GRCm39)	missense	possibly damaging	0.79
IGL02077:Rsl1d1	APN	16	11,012,320 (GRCm39)	unclassified	probably benign
IGL02627:Rsl1d1	APN	16	11,012,415 (GRCm39)	missense	possibly damaging	0.48
R0925:Rsl1d1	UTSW	16	11,017,553 (GRCm39)	missense	probably damaging	1.00
R1017:Rsl1d1	UTSW	16	11,021,116 (GRCm39)	missense	probably benign
R1671:Rsl1d1	UTSW	16	11,019,245 (GRCm39)	missense	probably damaging	1.00
R4658:Rsl1d1	UTSW	16	11,019,238 (GRCm39)	missense	probably damaging	1.00
R4915:Rsl1d1	UTSW	16	11,017,593 (GRCm39)	splice site	probably null
R5265:Rsl1d1	UTSW	16	11,019,248 (GRCm39)	missense	possibly damaging	0.82
R5545:Rsl1d1	UTSW	16	11,017,514 (GRCm39)	missense	probably damaging	0.99
R6221:Rsl1d1	UTSW	16	11,019,175 (GRCm39)	missense	probably damaging	0.99
R7852:Rsl1d1	UTSW	16	11,021,098 (GRCm39)	missense	probably benign
R7919:Rsl1d1	UTSW	16	11,020,297 (GRCm39)	missense	probably benign	0.18
R8754:Rsl1d1	UTSW	16	11,017,512 (GRCm39)	missense	probably damaging	0.99
R9098:Rsl1d1	UTSW	16	11,019,227 (GRCm39)	missense	probably damaging	1.00
R9500:Rsl1d1	UTSW	16	11,011,385 (GRCm39)	missense	possibly damaging	0.71
R9792:Rsl1d1	UTSW	16	11,017,300 (GRCm39)	missense	possibly damaging	0.57
R9793:Rsl1d1	UTSW	16	11,017,300 (GRCm39)	missense	possibly damaging	0.57
Z1088:Rsl1d1	UTSW	16	11,020,249 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- CACTAATTCTAGTTTGAGTGGGCC -3'
(R):5'- TGTCTGGTGCTGGAAAGAGC -3'

Sequencing Primer
(F):5'- CTCTGGGTGTGTTGGAAGCC -3'
(R):5'- TGCTGGAAAGAGCCCCTCATTC -3'

Posted On

2018-11-28