Mutagenetix > Incidental Mutation

Incidental Mutation 'R0004:Luc7l2'

32381

Institutional Source

Beutler Lab

Gene Symbol

Luc7l2

Ensembl Gene

ENSMUSG00000029823

Gene Name

LUC7-like 2 (S. cerevisiae)

Synonyms

CGI-59, 4930471C18Rik, CGI-74

MMRRC Submission

038300-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.305) question?

Stock #

R0004 (G1)

Quality Score

201

Status

Validated (trace)

Chromosome

Chromosomal Location

38528269-38586405 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38566169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 52 (K52M)

Ref Sequence

ENSEMBL: ENSMUSP00000125394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057692] [ENSMUST00000159936] [ENSMUST00000160511] [ENSMUST00000161227] [ENSMUST00000161538] [ENSMUST00000163047] [ENSMUST00000162386]

AlphaFold

Q7TNC4

Predicted Effect

probably damaging
Transcript: ENSMUST00000057692
AA Change: K105M

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

SMART Domains

Protein: ENSMUSP00000055254
Gene: ENSMUSG00000029823
AA Change: K105M

Domain	Start	End	E-Value	Type
Pfam:LUC7	5	257	6.5e-84	PFAM
low complexity region	269	341	N/A	INTRINSIC
low complexity region	347	370	N/A	INTRINSIC
low complexity region	377	388	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159936

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160430

SMART Domains

Protein: ENSMUSP00000124686
Gene: ENSMUSG00000029823

Domain	Start	End	E-Value	Type
Pfam:LUC7	1	211	9.9e-70	PFAM
low complexity region	217	281	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160582

Predicted Effect

probably damaging
Transcript: ENSMUST00000161227
AA Change: K52M

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

SMART Domains

Protein: ENSMUSP00000125111
Gene: ENSMUSG00000029823
AA Change: K52M

Domain	Start	End	E-Value	Type
Pfam:LUC7	1	288	6.9e-65	PFAM
low complexity region	294	317	N/A	INTRINSIC
low complexity region	324	335	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000161538
AA Change: K105M

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

SMART Domains

Protein: ENSMUSP00000124010
Gene: ENSMUSG00000029823
AA Change: K105M

Domain	Start	End	E-Value	Type
Pfam:LUC7	4	309	3.3e-93	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000163047
AA Change: K52M

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

SMART Domains

Protein: ENSMUSP00000125394
Gene: ENSMUSG00000029823
AA Change: K52M

Domain	Start	End	E-Value	Type
Pfam:LUC7	1	257	3.2e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162386

Meta Mutation Damage Score

0.5769

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (63/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a C2H2-type zinc finger, coiled-coil region and arginine, serine-rich (RS) domain. A similar protein in mouse interacts with sodium channel modifier 1, and the encoded protein may be involved in the recognition of non-consensus splice donor sites in association with the U1 snRNP spliceosomal subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	T	C	2: 120,982,966 (GRCm39)	I86T	probably damaging	Het
Aff3	T	C	1: 38,308,807 (GRCm39)	D376G	possibly damaging	Het
Akap11	A	T	14: 78,752,380 (GRCm39)	H164Q	possibly damaging	Het
Akap12	A	T	10: 4,303,220 (GRCm39)	D10V	probably damaging	Het
Arhgap32	T	C	9: 32,063,294 (GRCm39)	V101A	probably damaging	Het
Atm	A	T	9: 53,364,828 (GRCm39)		probably benign	Het
Ccdc18	A	G	5: 108,309,566 (GRCm39)	D387G	possibly damaging	Het
Ccdc38	A	T	10: 93,409,964 (GRCm39)	Q261L	probably damaging	Het
Cd180	T	G	13: 102,839,216 (GRCm39)	V33G	probably benign	Het
Cd207	G	A	6: 83,651,230 (GRCm39)	Q242*	probably null	Het
Cnp	T	C	11: 100,467,633 (GRCm39)	F192S	probably damaging	Het
Colec10	G	T	15: 54,274,271 (GRCm39)	R33L	possibly damaging	Het
Csn1s1	A	T	5: 87,819,390 (GRCm39)	M16L	probably benign	Het
Dnah10	A	T	5: 124,803,966 (GRCm39)	M98L	probably benign	Het
Dnah17	T	C	11: 117,950,918 (GRCm39)	I2902V	possibly damaging	Het
Dtnb	A	G	12: 3,646,635 (GRCm39)		probably benign	Het
Epha5	T	C	5: 84,479,701 (GRCm39)	Y101C	probably damaging	Het
Ephb2	T	A	4: 136,384,835 (GRCm39)	M860L	probably damaging	Het
Fbxw18	T	C	9: 109,530,381 (GRCm39)	T77A	probably damaging	Het
Fgfbp3	A	G	19: 36,896,082 (GRCm39)	S179P	possibly damaging	Het
Foxp2	A	G	6: 15,197,095 (GRCm39)	T45A	possibly damaging	Het
Gckr	A	T	5: 31,454,933 (GRCm39)		probably benign	Het
Glce	T	A	9: 61,975,861 (GRCm39)	Q213L	probably damaging	Het
Gm1965	A	C	6: 89,123,469 (GRCm39)	H84P	unknown	Het
Hbegf	A	G	18: 36,640,559 (GRCm39)	V166A	probably damaging	Het
Helb	G	T	10: 119,944,886 (GRCm39)	H217N	probably damaging	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Kansl2	A	G	15: 98,418,257 (GRCm39)	L392P	probably damaging	Het
Klra1	A	T	6: 130,349,836 (GRCm39)	Y201N	probably damaging	Het
Klra3	A	G	6: 130,300,650 (GRCm39)	S240P	probably damaging	Het
Liph	T	A	16: 21,802,944 (GRCm39)	R42*	probably null	Het
Lrp1	A	T	10: 127,377,694 (GRCm39)		probably null	Het
Mecom	G	A	3: 30,034,060 (GRCm39)	P215S	probably damaging	Het
Myo1g	T	A	11: 6,465,901 (GRCm39)	T395S	probably damaging	Het
Ndst4	T	A	3: 125,364,475 (GRCm39)	M384K	probably benign	Het
Ndufb2	C	T	6: 39,573,438 (GRCm39)	T51I	possibly damaging	Het
Nell1	C	A	7: 50,210,507 (GRCm39)		probably benign	Het
Or51k1	A	T	7: 103,661,638 (GRCm39)	N90K	probably benign	Het
Oxr1	G	A	15: 41,683,936 (GRCm39)	S434N	possibly damaging	Het
Pcdhac2	T	A	18: 37,278,290 (GRCm39)	S423R	probably benign	Het
Pcdhb10	T	A	18: 37,545,012 (GRCm39)	D29E	probably benign	Het
Pde10a	A	G	17: 9,200,408 (GRCm39)	T1053A	probably benign	Het
Pkdrej	T	A	15: 85,702,384 (GRCm39)	H1184L	probably damaging	Het
Prkaa2	C	T	4: 104,904,288 (GRCm39)	R263Q	probably null	Het
Prmt9	A	G	8: 78,282,411 (GRCm39)	I103V	possibly damaging	Het
Rbm15b	T	C	9: 106,762,135 (GRCm39)	T678A	probably benign	Het
Ryr2	T	C	13: 11,680,805 (GRCm39)	Y3180C	probably benign	Het
Scaf1	T	C	7: 44,657,094 (GRCm39)		probably benign	Het
Scn7a	T	A	2: 66,518,139 (GRCm39)	N1024I	possibly damaging	Het
Sec23b	T	C	2: 144,406,482 (GRCm39)		probably benign	Het
Sf1	C	A	19: 6,424,221 (GRCm39)	P417Q	probably damaging	Het
Slc4a3	A	T	1: 75,533,653 (GRCm39)		probably benign	Het
Stk32a	T	C	18: 43,438,121 (GRCm39)	W207R	probably damaging	Het
Syne1	A	T	10: 5,393,132 (GRCm39)		probably benign	Het
Tecta	A	T	9: 42,256,774 (GRCm39)	V1634E	possibly damaging	Het
Tenm2	A	G	11: 35,914,184 (GRCm39)	F2450S	probably damaging	Het
Tgfb1	T	C	7: 25,391,791 (GRCm39)		probably benign	Het
Tpgs2	A	G	18: 25,291,295 (GRCm39)		probably benign	Het
Washc5	A	G	15: 59,239,316 (GRCm39)	M149T	probably damaging	Het
Wrn	A	T	8: 33,807,588 (GRCm39)	V290D	probably damaging	Het
Zbtb41	A	G	1: 139,370,626 (GRCm39)	T688A	possibly damaging	Het
Zfp560	C	T	9: 20,259,263 (GRCm39)	C533Y	probably damaging	Het
Zfp791	G	A	8: 85,837,495 (GRCm39)	A123V	probably benign	Het

Other mutations in Luc7l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Luc7l2	APN	6	38,585,105 (GRCm39)	unclassified	probably benign
IGL00684:Luc7l2	APN	6	38,585,111 (GRCm39)	unclassified	probably benign
IGL00785:Luc7l2	APN	6	38,575,721 (GRCm39)	missense	possibly damaging	0.73
R0304:Luc7l2	UTSW	6	38,569,711 (GRCm39)	missense	probably damaging	0.98
R1820:Luc7l2	UTSW	6	38,575,754 (GRCm39)	splice site	probably null
R2223:Luc7l2	UTSW	6	38,542,659 (GRCm39)	intron	probably benign
R3815:Luc7l2	UTSW	6	38,547,526 (GRCm39)	missense	possibly damaging	0.83
R5016:Luc7l2	UTSW	6	38,562,036 (GRCm39)	missense	possibly damaging	0.54
R7583:Luc7l2	UTSW	6	38,528,820 (GRCm39)	missense	probably damaging	0.98
R7655:Luc7l2	UTSW	6	38,580,399 (GRCm39)	missense	unknown
R7656:Luc7l2	UTSW	6	38,580,399 (GRCm39)	missense	unknown
R7722:Luc7l2	UTSW	6	38,580,243 (GRCm39)	missense	unknown
R7761:Luc7l2	UTSW	6	38,531,999 (GRCm39)	critical splice donor site	probably null
R8105:Luc7l2	UTSW	6	38,569,588 (GRCm39)	missense	probably benign	0.29
R9222:Luc7l2	UTSW	6	38,542,633 (GRCm39)	missense	probably benign
R9420:Luc7l2	UTSW	6	38,547,489 (GRCm39)	missense	probably damaging	1.00
R9544:Luc7l2	UTSW	6	38,580,315 (GRCm39)	missense	unknown
Z1088:Luc7l2	UTSW	6	38,580,304 (GRCm39)	utr 3 prime	probably benign
Z1176:Luc7l2	UTSW	6	38,528,843 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGAAATTAATCTCAGGGCTTCCTGTG -3'
(R):5'- ACATGCTTGACTGACAAATTCTGGGT -3'

Sequencing Primer
(F):5'- GTGTGATAGGAAAGCATTTCTTTACC -3'
(R):5'- agcacacagaggcaaagg -3'

Posted On

2013-05-09