Mutagenetix > Incidental Mutation

Incidental Mutation 'R8792:Rpl3l'

671025

Institutional Source

Beutler Lab

Gene Symbol

Rpl3l

Ensembl Gene

ENSMUSG00000002500

Gene Name

ribosomal protein L3-like

Synonyms

1110057H16Rik

MMRRC Submission

068635-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R8792 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24946800-24955117 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24947447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 2 (T2A)

Ref Sequence

ENSEMBL: ENSMUSP00000138489 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045186] [ENSMUST00000045602] [ENSMUST00000135708] [ENSMUST00000170239] [ENSMUST00000183214]

AlphaFold

E9PWZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000045186

SMART Domains

Protein: ENSMUSP00000038326
Gene: ENSMUSG00000002500

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L3	1	181	5.1e-72	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000045602

SMART Domains

Protein: ENSMUSP00000043543
Gene: ENSMUSG00000040048

Domain	Start	End	E-Value	Type
low complexity region	11	25	N/A	INTRINSIC
Pfam:NDUFB10	42	168	2.1e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135708

SMART Domains

Protein: ENSMUSP00000120091
Gene: ENSMUSG00000040048

Domain	Start	End	E-Value	Type
low complexity region	11	25	N/A	INTRINSIC
Pfam:NDUFB10	54	149	7.1e-40	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170239
AA Change: T54A

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129325
Gene: ENSMUSG00000002500
AA Change: T54A

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L3	1	375	1.2e-178	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183214
AA Change: T2A

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138489
Gene: ENSMUSG00000002500
AA Change: T2A

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L3	1	133	1.1e-43	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that shares sequence similarity with ribosomal protein L3. The protein belongs to the L3P family of ribosomal proteins. Unlike the ubiquitous expression of ribosomal protein genes, this gene has a tissue-specific pattern of expression, with the highest levels of expression in skeletal muscle and heart. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	T	C	15: 81,793,697 (GRCm39)	I382T	probably damaging	Het
Adam39	G	T	8: 41,279,613 (GRCm39)	R668L	probably benign	Het
Adam6b	T	C	12: 113,455,310 (GRCm39)	I709T	possibly damaging	Het
Adgrl3	A	G	5: 81,836,522 (GRCm39)	E692G	probably damaging	Het
Asxl2	T	C	12: 3,546,536 (GRCm39)	L440P	probably benign	Het
Atosb	G	A	4: 43,033,546 (GRCm39)	P536S	probably damaging	Het
Bmf	A	G	2: 118,377,386 (GRCm39)	F121L	probably damaging	Het
Cblif	C	A	19: 11,727,599 (GRCm39)	A141E	probably damaging	Het
Cdk9	A	T	2: 32,598,269 (GRCm39)	F262L	probably benign	Het
Clock	T	A	5: 76,410,574 (GRCm39)	D99V	probably damaging	Het
Dnah14	A	T	1: 181,642,189 (GRCm39)	T102S		Het
Eps15	T	C	4: 109,162,908 (GRCm39)	V67A	probably benign	Het
Fam171b	T	A	2: 83,643,103 (GRCm39)	L4H	probably damaging	Het
Fcho2	T	A	13: 98,951,769 (GRCm39)		probably benign	Het
Gal3st4	C	T	5: 138,269,251 (GRCm39)	V70M	probably damaging	Het
Garin2	C	T	12: 78,761,924 (GRCm39)	T196M	probably damaging	Het
Got1l1	C	A	8: 27,690,749 (GRCm39)		probably null	Het
Gpr146	A	G	5: 139,378,549 (GRCm39)	Y117C	probably damaging	Het
Gpr158	G	A	2: 21,558,137 (GRCm39)	V346M	probably damaging	Het
Herc1	C	A	9: 66,372,768 (GRCm39)	P3108Q	probably damaging	Het
Hoxc9	A	G	15: 102,890,226 (GRCm39)	S48G	probably benign	Het
I830077J02Rik	T	C	3: 105,835,104 (GRCm39)		probably benign	Het
Ift70a1	C	A	2: 75,811,898 (GRCm39)	E62*	probably null	Het
Lama4	T	G	10: 38,924,048 (GRCm39)	I485M	probably benign	Het
Lrp4	C	T	2: 91,325,300 (GRCm39)	T1375I	possibly damaging	Het
Lrp6	T	C	6: 134,463,549 (GRCm39)	Y544C	probably damaging	Het
Man2b1	C	T	8: 85,821,773 (GRCm39)	Q692*	probably null	Het
Mark2	G	T	19: 7,258,580 (GRCm39)	H570N	probably benign	Het
Mlph	T	C	1: 90,870,682 (GRCm39)		probably benign	Het
Mnx1	G	A	5: 29,683,372 (GRCm39)		probably benign	Het
Nkx2-2	A	T	2: 147,019,813 (GRCm39)	V208E	probably benign	Het
Nlrp1b	T	C	11: 71,050,919 (GRCm39)	I1058V	probably benign	Het
Nwd2	T	C	5: 63,963,047 (GRCm39)	I877T	probably damaging	Het
Olfml2b	A	T	1: 170,508,669 (GRCm39)	N509I	possibly damaging	Het
Or1e27-ps1	T	C	11: 73,555,471 (GRCm39)	L12P	probably damaging	Het
Or4c121	T	C	2: 89,024,231 (GRCm39)	Y49C	probably benign	Het
Or4f14b	G	C	2: 111,775,073 (GRCm39)	H243D	probably damaging	Het
Pabpc6	T	C	17: 9,888,332 (GRCm39)	N73S	probably damaging	Het
Parp12	A	G	6: 39,065,984 (GRCm39)	F580L	probably benign	Het
Parvg	C	A	15: 84,213,160 (GRCm39)	H80Q	probably damaging	Het
Pcdhb14	T	C	18: 37,582,541 (GRCm39)	V549A	probably damaging	Het
Pde8b	T	A	13: 95,179,534 (GRCm39)	H374L	probably benign	Het
Pgap4	T	C	4: 49,587,067 (GRCm39)	T34A	possibly damaging	Het
Phf2	C	T	13: 48,970,981 (GRCm39)		probably benign	Het
Pld4	T	C	12: 112,729,924 (GRCm39)	F69L	probably benign	Het
Qrich2	T	C	11: 116,347,456 (GRCm39)	I1123V	unknown	Het
Rida	C	T	15: 34,495,242 (GRCm39)	V8M	possibly damaging	Het
Rnf19b	T	A	4: 128,952,478 (GRCm39)	C139S	probably damaging	Het
Rp1	T	C	1: 4,095,091 (GRCm39)	I1254M	unknown	Het
Serpinb6e	A	T	13: 34,022,942 (GRCm39)	I147N	possibly damaging	Het
Slc12a4	G	A	8: 106,673,390 (GRCm39)	T727I	probably damaging	Het
Slc25a16	C	T	10: 62,764,119 (GRCm39)	R59*	probably null	Het
Strc	T	A	2: 121,208,286 (GRCm39)	I362F	probably damaging	Het
Tbc1d5	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	17: 51,106,962 (GRCm39)		probably benign	Het
Tll1	T	A	8: 64,538,499 (GRCm39)	T382S	probably damaging	Het
Tmprss6	T	A	15: 78,328,328 (GRCm39)	D556V	probably damaging	Het
Ttc13	A	G	8: 125,401,099 (GRCm39)		probably null	Het
Usp43	T	A	11: 67,767,244 (GRCm39)	K709*	probably null	Het
Vcan	A	T	13: 89,840,230 (GRCm39)	N1771K	possibly damaging	Het
Zfyve16	T	C	13: 92,659,669 (GRCm39)	I81V	probably benign	Het
Zxdc	A	G	6: 90,346,986 (GRCm39)	T116A	probably benign	Het

Other mutations in Rpl3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00984:Rpl3l	APN	17	24,954,445 (GRCm39)	missense	probably damaging	0.96
IGL01364:Rpl3l	APN	17	24,951,404 (GRCm39)	missense	probably benign	0.07
IGL02009:Rpl3l	APN	17	24,951,407 (GRCm39)	missense	probably damaging	0.98
IGL02422:Rpl3l	APN	17	24,952,962 (GRCm39)	nonsense	probably null
IGL03309:Rpl3l	APN	17	24,954,998 (GRCm39)	missense	possibly damaging	0.64
stringer	UTSW	17	24,954,455 (GRCm39)	missense	probably damaging	1.00
PIT4468001:Rpl3l	UTSW	17	24,954,457 (GRCm39)	missense	probably benign	0.00
R1466:Rpl3l	UTSW	17	24,949,845 (GRCm39)	missense	probably benign
R1466:Rpl3l	UTSW	17	24,949,845 (GRCm39)	missense	probably benign
R1782:Rpl3l	UTSW	17	24,952,430 (GRCm39)	missense	probably benign	0.02
R2019:Rpl3l	UTSW	17	24,954,490 (GRCm39)	unclassified	probably benign
R2509:Rpl3l	UTSW	17	24,951,360 (GRCm39)	missense	possibly damaging	0.94
R3844:Rpl3l	UTSW	17	24,952,916 (GRCm39)	missense	probably benign	0.02
R4574:Rpl3l	UTSW	17	24,952,984 (GRCm39)	missense	possibly damaging	0.70
R4675:Rpl3l	UTSW	17	24,952,584 (GRCm39)	missense	probably benign	0.43
R5097:Rpl3l	UTSW	17	24,952,435 (GRCm39)	missense	probably damaging	1.00
R5106:Rpl3l	UTSW	17	24,951,411 (GRCm39)	missense	probably damaging	1.00
R5187:Rpl3l	UTSW	17	24,951,429 (GRCm39)	missense	possibly damaging	0.95
R6073:Rpl3l	UTSW	17	24,949,861 (GRCm39)	missense	probably benign
R6295:Rpl3l	UTSW	17	24,952,966 (GRCm39)	missense	probably benign
R7624:Rpl3l	UTSW	17	24,951,401 (GRCm39)	missense	probably benign
R7655:Rpl3l	UTSW	17	24,949,960 (GRCm39)	missense	probably benign	0.37
R7656:Rpl3l	UTSW	17	24,949,960 (GRCm39)	missense	probably benign	0.37
R7834:Rpl3l	UTSW	17	24,952,437 (GRCm39)	missense	possibly damaging	0.58
R8527:Rpl3l	UTSW	17	24,954,754 (GRCm39)	missense	probably damaging	1.00
R8542:Rpl3l	UTSW	17	24,954,754 (GRCm39)	missense	probably damaging	1.00
R8840:Rpl3l	UTSW	17	24,952,711 (GRCm39)	missense	probably damaging	0.99
R8867:Rpl3l	UTSW	17	24,954,455 (GRCm39)	missense	probably damaging	1.00
R9046:Rpl3l	UTSW	17	24,947,435 (GRCm39)	missense	probably damaging	1.00
R9258:Rpl3l	UTSW	17	24,951,447 (GRCm39)	critical splice donor site	probably null
R9436:Rpl3l	UTSW	17	24,947,300 (GRCm39)	nonsense	probably null
R9651:Rpl3l	UTSW	17	24,947,328 (GRCm39)	missense	probably damaging	1.00
R9652:Rpl3l	UTSW	17	24,947,328 (GRCm39)	missense	probably damaging	1.00
Z1177:Rpl3l	UTSW	17	24,947,372 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTGAGTCAACCTGAAGCCAC -3'
(R):5'- CACGAAACCTGACTGTCCTGAG -3'

Sequencing Primer
(F):5'- CACCGCTAGAGAGACTTCAGTTATG -3'
(R):5'- TGACTGTCCTGAGGGCAACAC -3'

Posted On

2021-04-30