Mutagenetix > Incidental Mutation

Incidental Mutation 'R5054:Rpl22l1'

390689

Institutional Source

Beutler Lab

Gene Symbol

Rpl22l1

Ensembl Gene

ENSMUSG00000039221

Gene Name

ribosomal protein L22 like 1

Synonyms

3110001N18Rik

MMRRC Submission

042644-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R5054 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28805436-28807424 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 28806836 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 67 (S67A)

Ref Sequence

ENSEMBL: ENSMUSP00000141510 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043867] [ENSMUST00000193168] [ENSMUST00000194649]

AlphaFold

Q9D7S7

Predicted Effect

probably benign
Transcript: ENSMUST00000043867
AA Change: S68A

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

SMART Domains

Protein: ENSMUSP00000043111
Gene: ENSMUSG00000039221
AA Change: S68A

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L22e	11	118	9e-52	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191667

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191691

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192940

Predicted Effect

probably benign
Transcript: ENSMUST00000193168

SMART Domains

Protein: ENSMUSP00000141360
Gene: ENSMUSG00000039221

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L22e	8	50	2.4e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193336

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194092

Predicted Effect

possibly damaging
Transcript: ENSMUST00000194649
AA Change: S67A

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000141510
Gene: ENSMUSG00000039221
AA Change: S67A

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L22e	7	120	2.2e-53	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195728

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195827

Meta Mutation Damage Score

0.1507

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

94% (67/71)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal development at E9.5 and die by E12.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	G	13: 59,689,501 (GRCm38)	Y257H	probably damaging	Het
Adam28	C	T	14: 68,617,715 (GRCm38)	C659Y	probably damaging	Het
Adamtsl2	G	A	2: 27,101,720 (GRCm38)	E627K	probably damaging	Het
Atad5	T	A	11: 80,094,676 (GRCm38)	S196R	probably benign	Het
Bcam	T	A	7: 19,756,860 (GRCm38)		probably benign	Het
Birc6	A	G	17: 74,655,325 (GRCm38)	H3978R	probably damaging	Het
Btbd7	T	C	12: 102,838,212 (GRCm38)	I190V	probably benign	Het
Ccdc8	T	C	7: 16,995,045 (GRCm38)	V153A	probably damaging	Het
Cyp2a5	C	G	7: 26,841,104 (GRCm38)	R68G	probably damaging	Het
Dock3	T	C	9: 106,937,906 (GRCm38)	Y1254C	probably damaging	Het
Dync2h1	T	C	9: 7,085,007 (GRCm38)	E2794G	possibly damaging	Het
Dytn	C	A	1: 63,661,159 (GRCm38)	V271L	possibly damaging	Het
Eif1ad15	T	C	12: 88,321,301 (GRCm38)	I61V	probably benign	Het
Eif2s2	A	C	2: 154,892,670 (GRCm38)		probably null	Het
Fndc7	A	G	3: 108,881,347 (GRCm38)	S193P	probably damaging	Het
Fzr1	G	A	10: 81,371,419 (GRCm38)		probably benign	Het
Gm17472	T	C	6: 42,981,004 (GRCm38)	I69T	probably damaging	Het
Gmppa	C	A	1: 75,439,371 (GRCm38)	Y137*	probably null	Het
Gpr45	A	G	1: 43,032,649 (GRCm38)	I151V	probably benign	Het
H1f0	G	A	15: 79,028,773 (GRCm38)	A18T	probably damaging	Het
Hbb-bh1	C	T	7: 103,841,856 (GRCm38)	V114I	probably benign	Het
Impa2	C	A	18: 67,306,727 (GRCm38)	P98Q	probably damaging	Het
Kazn	T	C	4: 142,108,646 (GRCm38)	N573D	unknown	Het
Kcna2	A	T	3: 107,104,340 (GRCm38)	D79V	probably damaging	Het
Kcna7	G	A	7: 45,406,591 (GRCm38)	R77H	probably damaging	Het
Kif13a	A	G	13: 46,802,646 (GRCm38)	Y561H	probably damaging	Het
Klk14	G	A	7: 43,692,077 (GRCm38)	C51Y	probably damaging	Het
Klra1	T	A	6: 130,375,284 (GRCm38)	Q165L	probably damaging	Het
Mat2b	T	A	11: 40,680,042 (GRCm38)	R318S	probably damaging	Het
Mgat4d	G	A	8: 83,368,208 (GRCm38)		probably null	Het
Mtor	T	A	4: 148,556,855 (GRCm38)		probably null	Het
Nostrin	A	T	2: 69,175,713 (GRCm38)	Q247L	possibly damaging	Het
Obscn	T	C	11: 59,073,617 (GRCm38)	E3033G	probably damaging	Het
Pam	C	A	1: 97,821,917 (GRCm38)	D839Y	probably damaging	Het
Pds5a	A	G	5: 65,637,814 (GRCm38)	V693A	probably damaging	Het
Pigo	A	T	4: 43,021,337 (GRCm38)	L535Q	probably damaging	Het
Ppp1r12b	G	T	1: 134,955,733 (GRCm38)	A17E	probably benign	Het
Ptar1	G	T	19: 23,694,365 (GRCm38)	R44L	probably damaging	Het
Rad51c	T	C	11: 87,397,754 (GRCm38)	H201R	probably benign	Het
Rims2	A	T	15: 39,517,869 (GRCm38)		probably null	Het
Rnf219	C	T	14: 104,508,030 (GRCm38)	G70E	probably damaging	Het
Rps10	A	G	17: 27,630,480 (GRCm38)	S143P	probably damaging	Het
Rundc1	T	C	11: 101,425,141 (GRCm38)	V13A	probably benign	Het
Sephs2	C	A	7: 127,273,392 (GRCm38)	M176I	probably benign	Het
Serpina16	C	T	12: 103,674,930 (GRCm38)	V179I	probably benign	Het
Serpini2	T	A	3: 75,259,477 (GRCm38)	T158S	probably damaging	Het
Slc12a3	A	G	8: 94,346,351 (GRCm38)	R701G	probably damaging	Het
Slc1a6	A	G	10: 78,814,602 (GRCm38)	E558G	probably damaging	Het
Ssx2ip	T	C	3: 146,430,917 (GRCm38)		probably benign	Het
Tbr1	A	T	2: 61,806,002 (GRCm38)	I241F	possibly damaging	Het
Tgfa	G	C	6: 86,270,082 (GRCm38)		probably null	Het
Tlr12	T	A	4: 128,617,270 (GRCm38)	K396*	probably null	Het
Tmppe	A	G	9: 114,405,958 (GRCm38)	I442V	probably benign	Het
Tubb3	T	C	8: 123,420,868 (GRCm38)	V180A	probably damaging	Het
Vmn1r222	A	G	13: 23,232,731 (GRCm38)	V104A	probably damaging	Het
Vmn2r95	G	T	17: 18,451,446 (GRCm38)	V482L	possibly damaging	Het
Zfp184	G	T	13: 21,959,282 (GRCm38)	R386L	possibly damaging	Het
Zfp444	T	A	7: 6,189,793 (GRCm38)	V270E	probably damaging	Het
Zfp985	A	T	4: 147,582,981 (GRCm38)	Y102F	probably damaging	Het

Other mutations in Rpl22l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0115:Rpl22l1	UTSW	3	28,806,536 (GRCm38)	missense	probably damaging	0.99
R0543:Rpl22l1	UTSW	3	28,807,274 (GRCm38)	nonsense	probably null
R1859:Rpl22l1	UTSW	3	28,806,598 (GRCm38)	splice site	probably null
R1927:Rpl22l1	UTSW	3	28,806,589 (GRCm38)	missense	possibly damaging	0.82
R2064:Rpl22l1	UTSW	3	28,806,808 (GRCm38)	missense	possibly damaging	0.88
R5424:Rpl22l1	UTSW	3	28,806,898 (GRCm38)	intron	probably benign
R5561:Rpl22l1	UTSW	3	28,806,820 (GRCm38)	missense	probably benign	0.42
R6226:Rpl22l1	UTSW	3	28,806,527 (GRCm38)	missense	possibly damaging	0.66
R7806:Rpl22l1	UTSW	3	28,806,813 (GRCm38)	missense	probably benign
R8242:Rpl22l1	UTSW	3	28,806,765 (GRCm38)	missense	possibly damaging	0.73
R9522:Rpl22l1	UTSW	3	28,806,594 (GRCm38)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAGCTGTGCTCCTAGGGTAC -3'
(R):5'- GGTTTTAAGAAGCAACCAGGAC -3'

Sequencing Primer
(F):5'- ACCTTCCCTAGTGACCATCTAGGG -3'
(R):5'- ACACCATGAAATCTGCTGTCTG -3'

Posted On

2016-06-06