Mutagenetix > Incidental Mutation

Incidental Mutation 'R8077:Luc7l'

629111

Institutional Source

Beutler Lab

Gene Symbol

Luc7l

Ensembl Gene

ENSMUSG00000024188

Gene Name

Luc7-like

Synonyms

2410018D03Rik, 1810045C04Rik

MMRRC Submission

067511-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.258) question?

Stock #

R8077 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26471870-26504478 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26474047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 35 (V35A)

Ref Sequence

ENSEMBL: ENSMUSP00000110627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025023] [ENSMUST00000114976] [ENSMUST00000119928] [ENSMUST00000140427] [ENSMUST00000148894] [ENSMUST00000154235] [ENSMUST00000155151]

AlphaFold

Q9CYI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000025023
AA Change: V35A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025023
Gene: ENSMUSG00000024188
AA Change: V35A

Domain	Start	End	E-Value	Type
Pfam:LUC7	4	260	3.1e-95	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114976
AA Change: V35A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110627
Gene: ENSMUSG00000024188
AA Change: V35A

Domain	Start	End	E-Value	Type
Pfam:LUC7	5	249	2.5e-85	PFAM
low complexity region	327	336	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119928
AA Change: V35A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113405
Gene: ENSMUSG00000024188
AA Change: V35A

Domain	Start	End	E-Value	Type
Pfam:LUC7	4	260	3.1e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140427

SMART Domains

Protein: ENSMUSP00000122258
Gene: ENSMUSG00000024188

Domain	Start	End	E-Value	Type
Pfam:LUC7	1	168	1.5e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148894
AA Change: S59P

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000154235

Predicted Effect

probably benign
Transcript: ENSMUST00000155151

SMART Domains

Protein: ENSMUSP00000120409
Gene: ENSMUSG00000024188

Domain	Start	End	E-Value	Type
Pfam:LUC7	1	69	7.4e-23	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 95.4%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The LUC7L gene may represent a mammalian heterochromatic gene, encoding a putative RNA-binding protein similar to the yeast Luc7p subunit of the U1 snRNP splicing complex that is normally required for 5-prime splice site selection (Tufarelli et al., 2001 [PubMed 11170747]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a mutant allele producing a truncated product lacked any obvious phenotypic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,467,237 (GRCm39)	V132E	probably benign	Het
4930563M21Rik	C	T	9: 55,895,250 (GRCm39)	V315M	probably damaging	Het
Aadacl4fm1	T	C	4: 144,255,126 (GRCm39)	I182T	probably benign	Het
Alb	G	C	5: 90,615,214 (GRCm39)	R242P	probably damaging	Het
Amotl1	A	T	9: 14,461,798 (GRCm39)	V805D	probably damaging	Het
Arhgef3	T	C	14: 27,107,881 (GRCm39)	L179P	probably damaging	Het
Atp8b3	G	A	10: 80,366,858 (GRCm39)	L247F	possibly damaging	Het
Ccdc191	T	C	16: 43,735,968 (GRCm39)		probably null	Het
Celsr3	A	G	9: 108,705,530 (GRCm39)	H671R	probably benign	Het
Cemip	C	A	7: 83,652,616 (GRCm39)		probably benign	Het
Cfap97	G	T	8: 46,623,482 (GRCm39)	V291F	possibly damaging	Het
Clca3a2	A	G	3: 144,777,288 (GRCm39)	V861A	possibly damaging	Het
Cln8	A	T	8: 14,944,950 (GRCm39)	D88V	probably damaging	Het
Col18a1	C	A	10: 76,916,685 (GRCm39)	G330V	unknown	Het
Dis3	C	T	14: 99,327,471 (GRCm39)	R344Q	probably benign	Het
Esyt2	T	A	12: 116,305,848 (GRCm39)	S359R	possibly damaging	Het
Fbxo41	A	T	6: 85,450,211 (GRCm39)	L844Q	probably damaging	Het
Fn1	G	A	1: 71,651,761 (GRCm39)	T1372M	probably damaging	Het
Gbp5	G	A	3: 142,213,500 (GRCm39)	R472H	probably benign	Het
Gm4559	C	T	7: 141,827,553 (GRCm39)	R183K	unknown	Het
Gm9507	T	A	10: 77,647,604 (GRCm39)	E25V	unknown	Het
Golgb1	A	G	16: 36,738,995 (GRCm39)	I2486V	probably damaging	Het
Ifitm10	A	T	7: 141,924,704 (GRCm39)	V45D	probably damaging	Het
Ift80	A	G	3: 68,823,478 (GRCm39)	Y595H	probably benign	Het
Itga8	C	T	2: 12,247,244 (GRCm39)	V326I	probably benign	Het
Kif14	A	T	1: 136,399,186 (GRCm39)	H449L	possibly damaging	Het
Klrh1	A	G	6: 129,743,658 (GRCm39)	Y209H	probably benign	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lrrc8b	C	A	5: 105,627,883 (GRCm39)	S76R	possibly damaging	Het
Lrrn1	T	C	6: 107,545,783 (GRCm39)	L527P	probably damaging	Het
Luzp1	T	G	4: 136,270,402 (GRCm39)	V875G	probably damaging	Het
Mcf2l	G	T	8: 13,048,494 (GRCm39)		probably null	Het
Mcoln2	T	C	3: 145,896,169 (GRCm39)	M497T	probably damaging	Het
Mrgprb4	A	T	7: 47,848,203 (GRCm39)	S242T	probably benign	Het
Muc21	TCAGTGGTGGTCAGGATGGGGGTAGAGCCTGAGCCACTCCTGGATGCAGTGGTGGTCAGG	TCAGTGGTGGTCAGG	17: 35,930,628 (GRCm39)		probably benign	Het
Nipbl	T	A	15: 8,340,734 (GRCm39)	R1995S	possibly damaging	Het
Nup35	A	G	2: 80,469,280 (GRCm39)		probably null	Het
Or13a17	C	T	7: 140,271,046 (GRCm39)	S76F	probably benign	Het
Or2o1	A	G	11: 49,051,312 (GRCm39)	D157G	probably damaging	Het
Or6k2	A	G	1: 173,979,411 (GRCm39)		probably benign	Het
Prdm12	A	G	2: 31,532,316 (GRCm39)	K109E	probably damaging	Het
Ptch1	A	T	13: 63,688,626 (GRCm39)	L444Q	probably damaging	Het
Qtrt1	C	T	9: 21,331,392 (GRCm39)	R374*	probably null	Het
Rnase11	T	C	14: 51,287,398 (GRCm39)	D52G	probably damaging	Het
Rps6	A	G	4: 86,774,158 (GRCm39)	S148P	probably benign	Het
Rrm2b	T	C	15: 37,947,044 (GRCm39)	K86E	possibly damaging	Het
Sh2d1b2	A	G	1: 170,075,742 (GRCm39)	K59E	possibly damaging	Het
Six6	T	A	12: 72,987,100 (GRCm39)	W91R	probably damaging	Het
Slc23a2	C	A	2: 131,931,092 (GRCm39)	A136S	possibly damaging	Het
Slc9a5	G	A	8: 106,086,012 (GRCm39)	R593H	probably damaging	Het
Smbd1	T	C	16: 32,630,804 (GRCm39)	M1V	probably null	Het
Ssbp4	T	C	8: 71,051,647 (GRCm39)	Y239C	probably damaging	Het
Stox1	T	C	10: 62,501,345 (GRCm39)	E405G	probably damaging	Het
Tle7	C	T	8: 110,836,735 (GRCm39)	T207M	probably damaging	Het
Tmem192	A	G	8: 65,418,196 (GRCm39)	I194V	probably benign	Het
Tns3	A	T	11: 8,395,667 (GRCm39)	C1246S	probably damaging	Het
Ugt1a6a	A	T	1: 88,066,575 (GRCm39)	Q127L	probably benign	Het
Ush2a	A	G	1: 188,275,025 (GRCm39)	I1833V	probably benign	Het
Vmn2r66	A	T	7: 84,656,093 (GRCm39)	Y308N	probably benign	Het
Vti1a	T	G	19: 55,564,917 (GRCm39)	L191R	probably benign	Het
Zbtb38	A	T	9: 96,570,153 (GRCm39)	N310K	probably benign	Het

Other mutations in Luc7l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02054:Luc7l	APN	17	26,498,314 (GRCm39)	utr 3 prime	probably benign
IGL02141:Luc7l	APN	17	26,472,054 (GRCm39)	missense	probably damaging	1.00
R0658:Luc7l	UTSW	17	26,485,296 (GRCm39)	missense	probably damaging	1.00
R1114:Luc7l	UTSW	17	26,494,832 (GRCm39)	splice site	probably benign
R1868:Luc7l	UTSW	17	26,499,030 (GRCm39)	utr 3 prime	probably benign
R2112:Luc7l	UTSW	17	26,474,101 (GRCm39)	critical splice donor site	probably null
R2286:Luc7l	UTSW	17	26,499,020 (GRCm39)	utr 3 prime	probably benign
R2864:Luc7l	UTSW	17	26,485,335 (GRCm39)	missense	probably damaging	1.00
R2865:Luc7l	UTSW	17	26,485,335 (GRCm39)	missense	probably damaging	1.00
R3040:Luc7l	UTSW	17	26,496,593 (GRCm39)	utr 3 prime	probably benign
R4319:Luc7l	UTSW	17	26,496,593 (GRCm39)	utr 3 prime	probably benign
R4384:Luc7l	UTSW	17	26,498,936 (GRCm39)	splice site	probably benign
R5160:Luc7l	UTSW	17	26,486,271 (GRCm39)	missense	probably benign	0.27
R5330:Luc7l	UTSW	17	26,494,707 (GRCm39)	nonsense	probably null
R5331:Luc7l	UTSW	17	26,494,707 (GRCm39)	nonsense	probably null
R7220:Luc7l	UTSW	17	26,472,219 (GRCm39)	start gained	probably benign
R7418:Luc7l	UTSW	17	26,472,156 (GRCm39)	unclassified	probably benign
R7559:Luc7l	UTSW	17	26,474,089 (GRCm39)	missense	probably damaging	1.00
R8203:Luc7l	UTSW	17	26,485,333 (GRCm39)	missense	possibly damaging	0.95
R8895:Luc7l	UTSW	17	26,472,978 (GRCm39)	missense	possibly damaging	0.46
X0026:Luc7l	UTSW	17	26,496,549 (GRCm39)	missense	probably damaging	1.00
Z1088:Luc7l	UTSW	17	26,486,229 (GRCm39)	missense	probably damaging	0.96
Z1177:Luc7l	UTSW	17	26,500,635 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGGTTCAGTGTGCTTCTTCA -3'
(R):5'- GCTGTGTGAGTCCTAACACTC -3'

Sequencing Primer
(F):5'- GCCAGATAGCCTTGTGTA -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'

Posted On

2020-06-30