Mutagenetix > Incidental Mutation

Incidental Mutation 'R9154:Luc7l3'

695262

Institutional Source

Beutler Lab

Gene Symbol

Luc7l3

Ensembl Gene

ENSMUSG00000020863

Gene Name

LUC7-like 3 (S. cerevisiae)

Synonyms

3300001P08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R9154 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94181899-94213196 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94190793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 174 (S174T)

Ref Sequence

ENSEMBL: ENSMUSP00000021226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021226] [ENSMUST00000107820] [ENSMUST00000107821] [ENSMUST00000107822] [ENSMUST00000166312]

AlphaFold

Q5SUF2

Predicted Effect

unknown
Transcript: ENSMUST00000021226
AA Change: S174T

SMART Domains

Protein: ENSMUSP00000021226
Gene: ENSMUSG00000020863
AA Change: S174T

Domain	Start	End	E-Value	Type
Pfam:LUC7	3	293	2.3e-89	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107820
AA Change: S174T

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103450
Gene: ENSMUSG00000020863
AA Change: S174T

Domain	Start	End	E-Value	Type
Pfam:LUC7	1	302	4.2e-72	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107821
AA Change: S174T

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103451
Gene: ENSMUSG00000020863
AA Change: S174T

Domain	Start	End	E-Value	Type
Pfam:LUC7	1	302	4.2e-72	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107822

Predicted Effect

probably benign
Transcript: ENSMUST00000132623

SMART Domains

Protein: ENSMUSP00000131166
Gene: ENSMUSG00000020863

Domain	Start	End	E-Value	Type
coiled coil region	1	31	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166312
AA Change: S174T

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000129919
Gene: ENSMUSG00000020863
AA Change: S174T

Domain	Start	End	E-Value	Type
Pfam:LUC7	1	300	7.9e-72	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with an N-terminal half that contains cysteine/histidine motifs and leucine zipper-like repeats, and the C-terminal half is rich in arginine and glutamate residues (RE domain) and arginine and serine residues (RS domain). This protein localizes with a speckled pattern in the nucleus, and could be involved in the formation of splicesome via the RE and RS domains. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2009]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,926,926 (GRCm39)	V862A	probably benign	Het
A2m	A	T	6: 121,645,512 (GRCm39)	K1019M	probably damaging	Het
Acot6	G	T	12: 84,147,789 (GRCm39)	W15L	possibly damaging	Het
Adam32	CCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAG	8: 25,438,769 (GRCm39)		probably benign	Het
Adnp	C	A	2: 168,026,580 (GRCm39)	Q238H	possibly damaging	Het
Akap7	T	C	10: 25,047,053 (GRCm39)	Y281C	probably damaging	Het
Ank1	A	G	8: 23,605,387 (GRCm39)	E1085G	probably damaging	Het
Arhgef38	A	T	3: 132,837,924 (GRCm39)	S669T	unknown	Het
Atp8b2	A	T	3: 89,865,927 (GRCm39)	S50R	possibly damaging	Het
Atp8b5	T	C	4: 43,372,630 (GRCm39)	I1090T	probably benign	Het
Ccdc198	A	T	14: 49,473,367 (GRCm39)	H129Q	probably benign	Het
Chrna4	G	A	2: 180,670,602 (GRCm39)	R385C	probably damaging	Het
Col4a1	T	A	8: 11,267,446 (GRCm39)	I1105F	probably damaging	Het
Crybg2	G	A	4: 133,792,620 (GRCm39)	R85Q	probably benign	Het
Cspg4	T	A	9: 56,798,287 (GRCm39)	L1434Q		Het
Cyp3a13	T	C	5: 137,919,758 (GRCm39)	N6S	probably benign	Het
Dnase2b	A	T	3: 146,299,326 (GRCm39)	Y42*	probably null	Het
F11r	A	G	1: 171,289,376 (GRCm39)	E233G	probably damaging	Het
Fip1l1	T	C	5: 74,747,703 (GRCm39)	I390T	possibly damaging	Het
Fiz1	G	A	7: 5,011,280 (GRCm39)	R413C	probably damaging	Het
Fus	G	A	7: 127,580,440 (GRCm39)	G450E	unknown	Het
Gm11569	C	A	11: 99,689,267 (GRCm39)	C144F	unknown	Het
Gm7298	A	T	6: 121,756,436 (GRCm39)	Y1027F	probably damaging	Het
Grik5	C	A	7: 24,758,403 (GRCm39)	W340L	probably damaging	Het
H1f2	A	G	13: 23,923,373 (GRCm39)	K181R	unknown	Het
Hectd4	G	A	5: 121,391,967 (GRCm39)	R77H		Het
Ift81	C	A	5: 122,689,122 (GRCm39)	V665L	probably benign	Het
Ints2	A	G	11: 86,125,524 (GRCm39)	F559L	probably damaging	Het
Kdm8	G	A	7: 125,054,296 (GRCm39)	V176I	probably benign	Het
Keap1	A	T	9: 21,142,121 (GRCm39)	Y584*	probably null	Het
Klra1	T	C	6: 130,357,607 (GRCm39)	T7A		Het
Lmo7	T	A	14: 102,122,743 (GRCm39)	W311R	probably damaging	Het
Lrp6	A	G	6: 134,518,855 (GRCm39)	V70A	probably damaging	Het
Madd	T	C	2: 90,998,162 (GRCm39)	T653A	probably damaging	Het
Mlph	G	T	1: 90,855,716 (GRCm39)	G41V	probably damaging	Het
Mov10l1	A	G	15: 88,896,118 (GRCm39)	E654G	possibly damaging	Het
Mpp3	T	C	11: 101,911,328 (GRCm39)	I165V		Het
Mrgpra2a	T	G	7: 47,076,394 (GRCm39)	Y288S	probably damaging	Het
Mroh9	T	A	1: 162,890,030 (GRCm39)	M236L		Het
Muc5b	A	C	7: 141,417,974 (GRCm39)	K3640T	probably damaging	Het
Myh13	A	G	11: 67,253,318 (GRCm39)	I1485V	probably benign	Het
Nf2	A	T	11: 4,744,873 (GRCm39)	F285L	probably damaging	Het
Nfx1	T	A	4: 40,990,845 (GRCm39)	C471S	probably damaging	Het
Nsd1	C	T	13: 55,361,253 (GRCm39)	R74W	probably damaging	Het
Nudt16l1	A	T	16: 4,758,281 (GRCm39)	*212C	probably null	Het
Oaf	T	C	9: 43,133,992 (GRCm39)	Y243C	probably damaging	Het
Or51e1	T	C	7: 102,358,541 (GRCm39)	V25A	probably benign	Het
Or6c3	T	C	10: 129,308,690 (GRCm39)	I43T	probably benign	Het
Or7g30	T	A	9: 19,352,531 (GRCm39)	F107L	probably benign	Het
Or7h8	A	G	9: 20,124,173 (GRCm39)	H176R	possibly damaging	Het
Or8b36	T	A	9: 37,937,690 (GRCm39)	L196*	probably null	Het
Parp9	T	C	16: 35,768,543 (GRCm39)	I241T	probably damaging	Het
Phlpp2	G	T	8: 110,666,590 (GRCm39)	A1040S	possibly damaging	Het
Pon2	A	T	6: 5,265,391 (GRCm39)	V332E	possibly damaging	Het
Ptprc	A	G	1: 138,016,302 (GRCm39)	V544A	probably damaging	Het
Rfx6	A	G	10: 51,597,600 (GRCm39)	S446G	probably benign	Het
Rnf103	T	A	6: 71,487,099 (GRCm39)	C577S	probably benign	Het
Ros1	T	G	10: 51,922,301 (GRCm39)	E2278D	possibly damaging	Het
Rpl37	A	G	15: 5,147,109 (GRCm39)	S50G	probably benign	Het
Rrad	C	T	8: 105,355,343 (GRCm39)	V222M	possibly damaging	Het
Ryr1	T	C	7: 28,769,283 (GRCm39)	T2770A	probably benign	Het
Secisbp2l	G	A	2: 125,617,623 (GRCm39)	P18L	probably damaging	Het
Septin2	T	A	1: 93,429,310 (GRCm39)	W260R	probably damaging	Het
Slc35c2	A	G	2: 165,122,797 (GRCm39)	M117T	probably benign	Het
Slc44a5	A	G	3: 153,953,373 (GRCm39)	T252A	probably benign	Het
Speer4f2	T	A	5: 17,581,610 (GRCm39)	L184Q		Het
Sphkap	C	G	1: 83,234,982 (GRCm39)	V1615L	probably damaging	Het
Sult2a3	C	T	7: 13,806,981 (GRCm39)	V234I	probably benign	Het
Tanc1	T	C	2: 59,630,132 (GRCm39)	L704P	probably damaging	Het
Tas2r126	T	C	6: 42,412,174 (GRCm39)	S236P	probably benign	Het
Tnik	A	G	3: 28,704,235 (GRCm39)	I1020V	probably damaging	Het
Tomm5	T	C	4: 45,106,724 (GRCm39)	Q64R	unknown	Het
Ttll13	A	G	7: 79,897,182 (GRCm39)	E16G	probably benign	Het
Vmn1r21	C	A	6: 57,821,348 (GRCm39)	C32F	probably benign	Het
Vmn2r51	T	A	7: 9,839,480 (GRCm39)	D36V	probably damaging	Het
Vmn2r63	C	T	7: 42,576,413 (GRCm39)	D467N	probably damaging	Het
Vwce	A	G	19: 10,625,850 (GRCm39)	N454S	possibly damaging	Het
Wfdc1	A	C	8: 120,406,116 (GRCm39)	D77A		Het
Yme1l1	T	A	2: 23,077,815 (GRCm39)	I419N	probably damaging	Het
Zfp106	G	A	2: 120,364,812 (GRCm39)	Q555*	probably null	Het
Zfp773	A	C	7: 7,138,302 (GRCm39)	M111R	probably damaging	Het
Zmat3	G	A	3: 32,397,767 (GRCm39)	A165V	possibly damaging	Het

Other mutations in Luc7l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:Luc7l3	APN	11	94,194,768 (GRCm39)	missense	probably benign	0.43
IGL02138:Luc7l3	APN	11	94,194,792 (GRCm39)	missense	probably benign	0.00
IGL02318:Luc7l3	APN	11	94,183,819 (GRCm39)	missense	probably benign	0.05
IGL02479:Luc7l3	APN	11	94,187,735 (GRCm39)	unclassified	probably benign
IGL02563:Luc7l3	APN	11	94,190,894 (GRCm39)	splice site	probably null
veritas	UTSW	11	94,183,779 (GRCm39)	missense	probably damaging	0.98
R0096:Luc7l3	UTSW	11	94,192,320 (GRCm39)	splice site	probably benign
R0096:Luc7l3	UTSW	11	94,192,320 (GRCm39)	splice site	probably benign
R1706:Luc7l3	UTSW	11	94,188,582 (GRCm39)	splice site	probably benign
R3803:Luc7l3	UTSW	11	94,183,992 (GRCm39)	utr 3 prime	probably benign
R4260:Luc7l3	UTSW	11	94,186,876 (GRCm39)	unclassified	probably benign
R4647:Luc7l3	UTSW	11	94,200,467 (GRCm39)	missense	probably damaging	1.00
R5153:Luc7l3	UTSW	11	94,186,806 (GRCm39)	unclassified	probably benign
R5179:Luc7l3	UTSW	11	94,190,879 (GRCm39)	missense	possibly damaging	0.92
R5591:Luc7l3	UTSW	11	94,184,060 (GRCm39)	unclassified	probably benign
R6767:Luc7l3	UTSW	11	94,183,779 (GRCm39)	missense	probably damaging	0.98
R6912:Luc7l3	UTSW	11	94,200,462 (GRCm39)	missense	probably damaging	0.97
R7168:Luc7l3	UTSW	11	94,190,810 (GRCm39)	missense	unknown
R7541:Luc7l3	UTSW	11	94,186,791 (GRCm39)	missense	unknown
R9029:Luc7l3	UTSW	11	94,188,676 (GRCm39)	missense	unknown
R9236:Luc7l3	UTSW	11	94,186,772 (GRCm39)	missense	unknown
R9620:Luc7l3	UTSW	11	94,212,545 (GRCm39)	missense	unknown
R9663:Luc7l3	UTSW	11	94,187,756 (GRCm39)	missense	unknown
Z1177:Luc7l3	UTSW	11	94,212,601 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TTCGATCTAAGGCAGGGTATAACC -3'
(R):5'- TAATGAAGCACGGTGCCTG -3'

Sequencing Primer
(F):5'- AAGAGGGCTTCAGATCTCGTTAC -3'
(R):5'- GGAAAGGAATCTTGACTTTG -3'

Posted On

2022-01-20