Mutagenetix > Incidental Mutation

Incidental Mutation 'R4929:Lzic'

381079

Institutional Source

Beutler Lab

Gene Symbol

Lzic

Ensembl Gene

ENSMUSG00000028990

Gene Name

leucine zipper and CTNNBIP1 domain containing

Synonyms

1810030J04Rik

MMRRC Submission

042530-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R4929 (G1)

Quality Score

213

Status

Validated

Chromosome

Chromosomal Location

149569686-149581125 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to A at 149572585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030842] [ENSMUST00000030845] [ENSMUST00000105693] [ENSMUST00000119921] [ENSMUST00000124413] [ENSMUST00000124413] [ENSMUST00000124413] [ENSMUST00000124413] [ENSMUST00000126896] [ENSMUST00000141293] [ENSMUST00000210722] [ENSMUST00000229840]

AlphaFold

Q8K3C3

Predicted Effect

probably benign
Transcript: ENSMUST00000030842
AA Change: D58E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030842
Gene: ENSMUSG00000028990
AA Change: D58E

Domain	Start	End	E-Value	Type
coiled coil region	2	63	N/A	INTRINSIC
Pfam:ICAT	113	188	5.7e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000030845

SMART Domains

Protein: ENSMUSP00000030845
Gene: ENSMUSG00000028992

Domain	Start	End	E-Value	Type
Pfam:CTP_transf_2	12	230	2.5e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105693

SMART Domains

Protein: ENSMUSP00000101318
Gene: ENSMUSG00000028992

Domain	Start	End	E-Value	Type
Pfam:CTP_transf_like	12	230	9.5e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119921

SMART Domains

Protein: ENSMUSP00000113156
Gene: ENSMUSG00000028992

Domain	Start	End	E-Value	Type
Pfam:CTP_transf_2	12	140	9.8e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122947

Predicted Effect

probably null
Transcript: ENSMUST00000124413

SMART Domains

Protein: ENSMUSP00000116150
Gene: ENSMUSG00000028990

Domain	Start	End	E-Value	Type
SCOP:d1lxa__	11	56	7e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000124413

SMART Domains

Protein: ENSMUSP00000116150
Gene: ENSMUSG00000028990

Domain	Start	End	E-Value	Type
SCOP:d1lxa__	11	56	7e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000124413

SMART Domains

Protein: ENSMUSP00000116150
Gene: ENSMUSG00000028990

Domain	Start	End	E-Value	Type
SCOP:d1lxa__	11	56	7e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000124413

SMART Domains

Protein: ENSMUSP00000116150
Gene: ENSMUSG00000028990

Domain	Start	End	E-Value	Type
SCOP:d1lxa__	11	56	7e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126896

Predicted Effect

probably benign
Transcript: ENSMUST00000141293
AA Change: D58E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119294
Gene: ENSMUSG00000028990
AA Change: D58E

Domain	Start	End	E-Value	Type
SCOP:d1lxa__	11	61	1e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138464

Predicted Effect

probably benign
Transcript: ENSMUST00000210722

Predicted Effect

probably benign
Transcript: ENSMUST00000229840

Meta Mutation Damage Score

0.1456

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,273,467 (GRCm39)		noncoding transcript	Het
Abcd3	A	T	3: 121,562,395 (GRCm39)		probably null	Het
Adamts12	C	T	15: 11,259,108 (GRCm39)	R551C	probably damaging	Het
Adamtsl4	A	G	3: 95,585,315 (GRCm39)	C818R	probably damaging	Het
Arfgef3	T	A	10: 18,506,599 (GRCm39)	Q842L	probably benign	Het
Aurka	A	T	2: 172,212,326 (GRCm39)	V17E	probably benign	Het
Cdh24	C	T	14: 54,870,973 (GRCm39)	V132I	probably benign	Het
Cep57l1	T	C	10: 41,621,910 (GRCm39)	D2G	possibly damaging	Het
Cntn5	T	A	9: 9,976,400 (GRCm39)		probably null	Het
Col10a1	T	C	10: 34,271,120 (GRCm39)	I364T	probably benign	Het
Dpp6	G	A	5: 27,254,785 (GRCm39)	A67T	probably benign	Het
Dym	T	A	18: 75,376,357 (GRCm39)	V583E	probably damaging	Het
Efcab5	T	G	11: 76,994,209 (GRCm39)	K1259N	probably benign	Het
Ehbp1	T	G	11: 22,189,169 (GRCm39)	I78L	possibly damaging	Het
Epha1	C	A	6: 42,341,533 (GRCm39)	A469S	probably benign	Het
Fam135a	T	C	1: 24,069,081 (GRCm39)	D596G	probably benign	Het
Filip1	T	C	9: 79,727,029 (GRCm39)	N530S	probably benign	Het
Gm57858	G	A	3: 36,089,487 (GRCm39)	L146F	probably damaging	Het
Grhl2	A	G	15: 37,361,046 (GRCm39)	N610S	probably benign	Het
Haus6	T	C	4: 86,513,670 (GRCm39)	I331V	probably benign	Het
Ints2	G	T	11: 86,103,479 (GRCm39)	N1192K	possibly damaging	Het
Itga5	A	G	15: 103,261,662 (GRCm39)	V445A	probably benign	Het
Itga9	C	A	9: 118,636,317 (GRCm39)	D82E	probably damaging	Het
Jam2	G	A	16: 84,619,750 (GRCm39)		probably benign	Het
Klhl32	T	A	4: 24,709,030 (GRCm39)	I112F	probably damaging	Het
Lepr	A	G	4: 101,672,314 (GRCm39)	I1113V	probably benign	Het
Lrrc3b	C	A	14: 15,357,888 (GRCm38)	L239F	probably damaging	Het
Mxra8	T	A	4: 155,927,118 (GRCm39)	F351I	probably damaging	Het
Naa40	A	G	19: 7,207,347 (GRCm39)	F126L	probably damaging	Het
Nbeal1	C	T	1: 60,277,813 (GRCm39)	S733F	probably damaging	Het
Olr1	T	C	6: 129,477,044 (GRCm39)	T74A	probably damaging	Het
Or52x1	A	G	7: 104,853,232 (GRCm39)	I106T	probably damaging	Het
Or5aq7	A	G	2: 86,938,527 (GRCm39)	F68S	possibly damaging	Het
Or5h17	A	C	16: 58,820,582 (GRCm39)	Y178S	probably damaging	Het
Pgam5	A	T	5: 110,413,691 (GRCm39)	V130D	probably damaging	Het
Pop4	A	G	7: 37,965,573 (GRCm39)	C115R	probably damaging	Het
Prpf18	A	T	2: 4,629,348 (GRCm39)		probably null	Het
Psg16	G	A	7: 16,829,031 (GRCm39)	R205H	possibly damaging	Het
Ptgr1	C	A	4: 58,981,879 (GRCm39)	A53S	probably benign	Het
Shank2	A	G	7: 143,965,008 (GRCm39)	D1451G	probably benign	Het
Slfn10-ps	A	G	11: 82,920,345 (GRCm39)		noncoding transcript	Het
Sox8	G	A	17: 25,789,330 (GRCm39)	A56V	probably benign	Het
Ssr3	A	G	3: 65,295,175 (GRCm39)	S113P	probably damaging	Het
Stx16	T	C	2: 173,938,721 (GRCm39)	Y296H	possibly damaging	Het
Tfcp2	A	T	15: 100,426,370 (GRCm39)	N60K	probably benign	Het
Thada	T	C	17: 84,751,654 (GRCm39)	T441A	probably benign	Het
Trf	G	T	9: 103,105,074 (GRCm39)		probably benign	Het
Vamp2	T	A	11: 68,979,488 (GRCm39)		probably benign	Het
Vmn2r105	A	T	17: 20,448,280 (GRCm39)	D181E	probably benign	Het
Vmn2r12	A	T	5: 109,239,544 (GRCm39)	Y340N	probably damaging	Het
Wasf2	C	A	4: 132,923,170 (GRCm39)	D493E	unknown	Het
Wdfy4	T	C	14: 32,769,213 (GRCm39)	D2084G	possibly damaging	Het
Zfp229	T	A	17: 21,965,354 (GRCm39)	I528N	probably damaging	Het
Zfp703	T	A	8: 27,468,879 (GRCm39)	V181E	possibly damaging	Het

Other mutations in Lzic

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00886:Lzic	APN	4	149,577,753 (GRCm39)	critical splice donor site	probably null
IGL01433:Lzic	APN	4	149,572,604 (GRCm39)	missense	probably benign	0.00
IGL02480:Lzic	APN	4	149,571,260 (GRCm39)	missense	probably damaging	1.00
R0097:Lzic	UTSW	4	149,572,533 (GRCm39)	missense	probably damaging	1.00
R0097:Lzic	UTSW	4	149,572,533 (GRCm39)	missense	probably damaging	1.00
R1345:Lzic	UTSW	4	149,571,308 (GRCm39)	missense	probably damaging	1.00
R2162:Lzic	UTSW	4	149,573,185 (GRCm39)	missense	probably null	0.01
R3831:Lzic	UTSW	4	149,573,185 (GRCm39)	missense	probably null	0.01
R4589:Lzic	UTSW	4	149,572,561 (GRCm39)	missense	probably damaging	0.98
R5837:Lzic	UTSW	4	149,570,457 (GRCm39)	critical splice donor site	probably null
R7126:Lzic	UTSW	4	149,573,132 (GRCm39)	missense	probably damaging	0.99
R8154:Lzic	UTSW	4	149,573,141 (GRCm39)	missense	probably damaging	1.00
R8316:Lzic	UTSW	4	149,572,527 (GRCm39)	missense	probably benign	0.03
R9632:Lzic	UTSW	4	149,573,141 (GRCm39)	missense	probably damaging	1.00
R9710:Lzic	UTSW	4	149,573,141 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATTGGTGTTTCCCTCCAGC -3'
(R):5'- ATGTTACTGGAGCCGAGCAG -3'

Sequencing Primer
(F):5'- AGCTTGCTCTAGAACAGCTG -3'
(R):5'- GTCTTGTCCATGCTAAGCAAG -3'

Posted On

2016-04-15