Mutagenetix > Incidental Mutation

Incidental Mutation 'R8153:Lztr1'

633160

Institutional Source

Beutler Lab

Gene Symbol

Lztr1

Ensembl Gene

ENSMUSG00000022761

Gene Name

leucine-zipper-like transcriptional regulator, 1

Synonyms

TCFL2, 1200003E21Rik

MMRRC Submission

067579-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8153 (G1)

Quality Score

223.009

Status

Not validated

Chromosome

Chromosomal Location

17326552-17344197 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 17336439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023444] [ENSMUST00000023444] [ENSMUST00000231292] [ENSMUST00000231292] [ENSMUST00000231307] [ENSMUST00000231994] [ENSMUST00000232242] [ENSMUST00000232372] [ENSMUST00000232372]

AlphaFold

Q9CQ33

Predicted Effect

probably null
Transcript: ENSMUST00000023444

SMART Domains

Protein: ENSMUSP00000023444
Gene: ENSMUSG00000022761

Domain	Start	End	E-Value	Type
Pfam:Kelch_6	64	103	1.1e-7	PFAM
Pfam:Kelch_1	64	105	1.7e-7	PFAM
Pfam:Kelch_4	64	113	4.7e-10	PFAM
Pfam:Kelch_3	74	123	3.1e-10	PFAM
Pfam:Kelch_5	111	152	7.2e-9	PFAM
Pfam:Kelch_1	114	161	2.8e-7	PFAM
Pfam:Kelch_2	114	163	1e-7	PFAM
Pfam:Kelch_4	114	170	1.9e-6	PFAM
Pfam:Kelch_3	124	180	9.1e-9	PFAM
Pfam:Kelch_4	171	224	6.1e-6	PFAM
Pfam:Kelch_3	181	232	6e-7	PFAM
Pfam:Kelch_1	224	267	1e-6	PFAM
Pfam:Kelch_4	225	278	6.2e-6	PFAM
Pfam:Kelch_3	234	289	2.2e-8	PFAM
Pfam:Kelch_1	280	325	7.7e-10	PFAM
Pfam:Kelch_2	280	325	4.3e-7	PFAM
Pfam:Kelch_6	280	325	9.6e-9	PFAM
Pfam:Kelch_4	280	329	2.5e-8	PFAM
BTB	440	571	4.16e-4	SMART
BTB	664	765	2.95e-18	SMART
low complexity region	808	821	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000023444

SMART Domains

Protein: ENSMUSP00000023444
Gene: ENSMUSG00000022761

Domain	Start	End	E-Value	Type
Pfam:Kelch_6	64	103	1.1e-7	PFAM
Pfam:Kelch_1	64	105	1.7e-7	PFAM
Pfam:Kelch_4	64	113	4.7e-10	PFAM
Pfam:Kelch_3	74	123	3.1e-10	PFAM
Pfam:Kelch_5	111	152	7.2e-9	PFAM
Pfam:Kelch_1	114	161	2.8e-7	PFAM
Pfam:Kelch_2	114	163	1e-7	PFAM
Pfam:Kelch_4	114	170	1.9e-6	PFAM
Pfam:Kelch_3	124	180	9.1e-9	PFAM
Pfam:Kelch_4	171	224	6.1e-6	PFAM
Pfam:Kelch_3	181	232	6e-7	PFAM
Pfam:Kelch_1	224	267	1e-6	PFAM
Pfam:Kelch_4	225	278	6.2e-6	PFAM
Pfam:Kelch_3	234	289	2.2e-8	PFAM
Pfam:Kelch_1	280	325	7.7e-10	PFAM
Pfam:Kelch_2	280	325	4.3e-7	PFAM
Pfam:Kelch_6	280	325	9.6e-9	PFAM
Pfam:Kelch_4	280	329	2.5e-8	PFAM
BTB	440	571	4.16e-4	SMART
BTB	664	765	2.95e-18	SMART
low complexity region	808	821	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000231292

Predicted Effect

probably null
Transcript: ENSMUST00000231292

Predicted Effect

probably benign
Transcript: ENSMUST00000231307

Predicted Effect

probably benign
Transcript: ENSMUST00000231994

Predicted Effect

probably benign
Transcript: ENSMUST00000232242

Predicted Effect

probably null
Transcript: ENSMUST00000232372

Predicted Effect

probably null
Transcript: ENSMUST00000232372

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the BR-C, ttk and bab-kelch superfamily that, in humans, localizes to the Golgi network and is associated with the ras / mitogen-activated protein kinase pathway. Loss-of-function mutations in the human ortholog are associated with glioblastoma multiforme, schwannomatosis, Noonan syndrome, and DiGeorge syndrome. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,275,157 (GRCm39)	S287T	probably benign	Het
Abca15	T	C	7: 119,999,812 (GRCm39)	S1429P	probably damaging	Het
Arfgef2	GTGTGCAGAAACT	GT	2: 166,676,383 (GRCm39)	92	probably null	Het
C1qb	A	G	4: 136,607,877 (GRCm39)	V162A	possibly damaging	Het
Cachd1	G	T	4: 100,845,835 (GRCm39)		probably null	Het
Cfap61	T	C	2: 146,042,704 (GRCm39)	I1159T	probably benign	Het
Csf1	T	A	3: 107,656,020 (GRCm39)	D337V	probably damaging	Het
Ddhd2	T	A	8: 26,240,816 (GRCm39)	T251S	probably benign	Het
Dnah5	A	G	15: 28,384,576 (GRCm39)	T3107A	probably damaging	Het
Dnph1	T	C	17: 46,809,965 (GRCm39)	V169A	probably benign	Het
Ebf2	T	C	14: 67,627,914 (GRCm39)	V303A	probably damaging	Het
Eif4a3l2	A	T	6: 116,528,968 (GRCm39)	I282F	probably damaging	Het
Enpp3	A	G	10: 24,685,777 (GRCm39)	F206S	probably damaging	Het
Fam151b	G	T	13: 92,614,410 (GRCm39)	T26K	probably damaging	Het
Fga	T	C	3: 82,938,164 (GRCm39)	S180P	probably damaging	Het
Fpr-rs3	A	G	17: 20,844,685 (GRCm39)	L152P	probably damaging	Het
Gen1	C	A	12: 11,310,948 (GRCm39)	G95W	probably damaging	Het
Ggta1	T	A	2: 35,313,333 (GRCm39)	T3S	possibly damaging	Het
Gm4884	T	A	7: 40,692,582 (GRCm39)	C184S	probably benign	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gsx2	T	C	5: 75,237,716 (GRCm39)	S223P	probably damaging	Het
Hnf4g	C	T	3: 3,699,250 (GRCm39)		probably benign	Het
Iqub	A	C	6: 24,450,789 (GRCm39)	Y603*	probably null	Het
Klhl22	A	G	16: 17,610,414 (GRCm39)	N555S	probably damaging	Het
Lama5	T	C	2: 179,829,724 (GRCm39)	D1928G	probably benign	Het
Lamb2	C	T	9: 108,357,845 (GRCm39)	R123W	probably damaging	Het
Lamc2	CATCAGCTA	CA	1: 152,999,850 (GRCm39)		probably null	Het
Lgr4	T	A	2: 109,830,645 (GRCm39)	F255I	probably damaging	Het
Lnx2	T	C	5: 146,964,906 (GRCm39)	N439S	probably benign	Het
Mtcl3	G	T	10: 29,024,235 (GRCm39)	E384*	probably null	Het
Nfkb2	G	T	19: 46,296,455 (GRCm39)	R241L	probably damaging	Het
Nrcam	T	C	12: 44,631,755 (GRCm39)	F1103L	probably benign	Het
Or2g1	A	G	17: 38,106,367 (GRCm39)	I11V	probably benign	Het
Or5k17	A	G	16: 58,746,149 (GRCm39)	S262P	possibly damaging	Het
Or8d2	A	G	9: 38,759,631 (GRCm39)	I74V	possibly damaging	Het
Or8g52	A	G	9: 39,630,954 (GRCm39)	M144V	possibly damaging	Het
Otof	C	A	5: 30,546,079 (GRCm39)	A425S	probably damaging	Het
Parg	T	A	14: 31,984,777 (GRCm39)	L774H	probably damaging	Het
Pcnx1	C	T	12: 81,965,593 (GRCm39)	R59*	probably null	Het
Pcnx4	T	A	12: 72,603,017 (GRCm39)	F426L	probably benign	Het
Pde5a	T	G	3: 122,646,225 (GRCm39)	S805R	probably benign	Het
Pde5a	T	A	3: 122,646,227 (GRCm39)	M806K	probably damaging	Het
Plekhh1	T	C	12: 79,125,812 (GRCm39)	S1283P	probably benign	Het
Ppp1r12a	A	G	10: 107,998,303 (GRCm39)	K15E	probably damaging	Het
Prkdc	A	T	16: 15,482,108 (GRCm39)	M384L	probably damaging	Het
Ptchd4	A	G	17: 42,814,787 (GRCm39)	D896G	probably benign	Het
Rsf1	GGC	GGCTACGGCCGC	7: 97,229,113 (GRCm39)		probably benign	Het
Slmap	T	C	14: 26,254,488 (GRCm39)	S65G	probably benign	Het
Snta1	C	A	2: 154,222,722 (GRCm39)	L298F	probably damaging	Het
Sphkap	T	G	1: 83,255,730 (GRCm39)	N673T	possibly damaging	Het
St8sia5	T	G	18: 77,340,807 (GRCm39)		probably null	Het
Tgm6	T	C	2: 129,986,975 (GRCm39)	V481A	probably benign	Het
Thada	T	C	17: 84,700,855 (GRCm39)	N1217S	possibly damaging	Het
Tia1	C	G	6: 86,397,314 (GRCm39)	H107D	probably damaging	Het
Ttn	A	G	2: 76,746,956 (GRCm39)	Y4698H	probably benign	Het
Ube3c	T	C	5: 29,811,929 (GRCm39)	Y390H	possibly damaging	Het
Ubqln5	A	G	7: 103,778,011 (GRCm39)	I271T	possibly damaging	Het
Vmn2r109	A	G	17: 20,784,969 (GRCm39)	V17A	probably benign	Het
Xkr9	A	G	1: 13,754,363 (GRCm39)	D119G	probably benign	Het
Zfp236	C	T	18: 82,648,152 (GRCm39)	C1003Y	probably damaging	Het

Other mutations in Lztr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Lztr1	APN	16	17,335,314 (GRCm39)	splice site	probably benign
IGL01152:Lztr1	APN	16	17,340,317 (GRCm39)	missense	probably damaging	1.00
IGL01501:Lztr1	APN	16	17,340,255 (GRCm39)	splice site	probably null
IGL01512:Lztr1	APN	16	17,340,255 (GRCm39)	splice site	probably null
IGL01514:Lztr1	APN	16	17,340,255 (GRCm39)	splice site	probably null
IGL01516:Lztr1	APN	16	17,340,255 (GRCm39)	splice site	probably null
IGL01933:Lztr1	APN	16	17,338,455 (GRCm39)	missense	probably damaging	1.00
IGL02603:Lztr1	APN	16	17,327,550 (GRCm39)	missense	possibly damaging	0.77
IGL03012:Lztr1	APN	16	17,339,348 (GRCm39)	missense	possibly damaging	0.92
IGL03191:Lztr1	APN	16	17,336,392 (GRCm39)	missense	probably damaging	1.00
R0331:Lztr1	UTSW	16	17,342,101 (GRCm39)	unclassified	probably benign
R0717:Lztr1	UTSW	16	17,333,912 (GRCm39)	splice site	probably null
R1511:Lztr1	UTSW	16	17,327,534 (GRCm39)	missense	probably damaging	1.00
R1925:Lztr1	UTSW	16	17,341,247 (GRCm39)	missense	probably damaging	1.00
R2062:Lztr1	UTSW	16	17,327,534 (GRCm39)	missense	probably damaging	1.00
R3694:Lztr1	UTSW	16	17,326,925 (GRCm39)	missense	possibly damaging	0.90
R3935:Lztr1	UTSW	16	17,340,059 (GRCm39)	nonsense	probably null
R4645:Lztr1	UTSW	16	17,341,955 (GRCm39)	unclassified	probably benign
R5624:Lztr1	UTSW	16	17,329,993 (GRCm39)	splice site	probably benign
R7175:Lztr1	UTSW	16	17,340,895 (GRCm39)	missense	possibly damaging	0.84
R7222:Lztr1	UTSW	16	17,341,996 (GRCm39)	missense	possibly damaging	0.86
R7420:Lztr1	UTSW	16	17,341,993 (GRCm39)	missense	probably damaging	1.00
R7515:Lztr1	UTSW	16	17,327,525 (GRCm39)	missense	possibly damaging	0.87
R7516:Lztr1	UTSW	16	17,327,525 (GRCm39)	missense	possibly damaging	0.87
R8027:Lztr1	UTSW	16	17,329,976 (GRCm39)	missense	probably damaging	1.00
R8836:Lztr1	UTSW	16	17,343,402 (GRCm39)	missense	probably benign	0.07
R8965:Lztr1	UTSW	16	17,327,296 (GRCm39)	critical splice donor site	probably null
R9015:Lztr1	UTSW	16	17,337,305 (GRCm39)	missense	probably benign	0.08
R9232:Lztr1	UTSW	16	17,339,343 (GRCm39)	missense	possibly damaging	0.78
R9667:Lztr1	UTSW	16	17,327,000 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGCTTCTTCCCATGAAACAC -3'
(R):5'- TGCCCAACTGGAGTCTAGTC -3'

Sequencing Primer
(F):5'- AAAGGATCCTGACTCCTC -3'
(R):5'- CCCAACTGGAGTCTAGTCAATAATGG -3'

Posted On

2020-06-30