Mutagenetix > Incidental Mutation

Incidental Mutation 'R7515:Lztr1'

582418

Institutional Source

Beutler Lab

Gene Symbol

Lztr1

Ensembl Gene

ENSMUSG00000022761

Gene Name

leucine-zipper-like transcriptional regulator, 1

Synonyms

TCFL2, 1200003E21Rik

MMRRC Submission

045588-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7515 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17326552-17344197 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 17327525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 76 (A76V)

Ref Sequence

ENSEMBL: ENSMUSP00000023444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023444] [ENSMUST00000023448] [ENSMUST00000115685] [ENSMUST00000231292] [ENSMUST00000231994] [ENSMUST00000232242] [ENSMUST00000232372]

AlphaFold

Q9CQ33

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023444
AA Change: A76V

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023444
Gene: ENSMUSG00000022761
AA Change: A76V

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 benign
Transcript: ENSMUST00000023448

SMART Domains

Protein: ENSMUSP00000023448
Gene: ENSMUSG00000022763

Domain	Start	End	E-Value	Type
Pfam:Rieske	68	161	3.6e-18	PFAM
Pfam:Rieske_2	70	166	7.7e-11	PFAM
Pfam:Pyr_redox_2	196	473	1.1e-34	PFAM
Pfam:Pyr_redox	334	416	7e-17	PFAM
Pfam:Reductase_C	512	591	9.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115685

SMART Domains

Protein: ENSMUSP00000111349
Gene: ENSMUSG00000022763

Domain	Start	End	E-Value	Type
Pfam:Rieske	68	161	6.5e-23	PFAM
Pfam:Rieske_2	70	166	1.4e-10	PFAM
Pfam:Pyr_redox_2	195	493	1.6e-65	PFAM
Pfam:Pyr_redox	334	416	7.3e-18	PFAM
Pfam:Reductase_C	512	586	9.3e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231292
AA Change: A76V

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000231994
AA Change: A76V

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000232242

Predicted Effect

probably benign
Transcript: ENSMUST00000232372

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd36	A	T	11: 5,578,905 (GRCm39)	E56D	possibly damaging	Het
Ankrd44	T	C	1: 54,805,514 (GRCm39)	Y182C	probably damaging	Het
Anxa3	A	T	5: 96,986,179 (GRCm39)	N273Y	probably damaging	Het
Apobec2	T	C	17: 48,730,015 (GRCm39)	E217G	probably damaging	Het
Arhgap24	A	G	5: 102,993,882 (GRCm39)		probably benign	Het
Asap2	A	G	12: 21,279,240 (GRCm39)	H374R	possibly damaging	Het
Camsap2	T	C	1: 136,273,108 (GRCm39)	D23G	probably damaging	Het
Ccr2	T	C	9: 123,906,197 (GRCm39)	V159A	probably damaging	Het
Cfap61	T	A	2: 145,884,645 (GRCm39)	D614E	unknown	Het
Crb2	G	A	2: 37,673,412 (GRCm39)	G103R	probably damaging	Het
Cyp2b9	A	G	7: 25,898,596 (GRCm39)	Y317C	probably damaging	Het
Dhx36	A	G	3: 62,379,508 (GRCm39)	V860A	probably benign	Het
Dnah3	T	C	7: 119,672,815 (GRCm39)	D553G	probably benign	Het
Dnah7c	T	C	1: 46,496,450 (GRCm39)	S112P	probably benign	Het
Dnah9	A	G	11: 65,732,240 (GRCm39)	F4222S	probably benign	Het
Ei24	T	C	9: 36,701,211 (GRCm39)	D36G	probably damaging	Het
Etv3	G	T	3: 87,435,363 (GRCm39)	R78L	possibly damaging	Het
Fbxo34	T	C	14: 47,767,798 (GRCm39)	L437P	possibly damaging	Het
Foxn1	T	C	11: 78,261,970 (GRCm39)	D133G	possibly damaging	Het
Gabra1	T	A	11: 42,045,660 (GRCm39)	D150V	possibly damaging	Het
Gpr158	T	C	2: 21,373,092 (GRCm39)	L9P	probably damaging	Het
H2-M10.3	G	A	17: 36,677,435 (GRCm39)	T281I	probably damaging	Het
Il18r1	T	C	1: 40,537,830 (GRCm39)	S532P	not run	Het
Itpr2	T	C	6: 146,228,608 (GRCm39)	D1329G	probably damaging	Het
Jakmip2	A	T	18: 43,704,191 (GRCm39)	N384K	probably benign	Het
Kdsr	A	G	1: 106,662,290 (GRCm39)	V255A	possibly damaging	Het
Kifc1	A	G	17: 34,103,777 (GRCm39)	L182P	probably damaging	Het
Lgals8	G	A	13: 12,463,343 (GRCm39)	R198*	probably null	Het
Lrrk1	A	T	7: 65,912,310 (GRCm39)	M1750K	probably benign	Het
Lrsam1	A	G	2: 32,830,251 (GRCm39)		probably null	Het
Mcc	G	T	18: 44,626,499 (GRCm39)	H366N	probably benign	Het
Mif4gd	A	G	11: 115,499,222 (GRCm39)	V220A	possibly damaging	Het
Mtmr12	T	A	15: 12,270,037 (GRCm39)	F708L	probably damaging	Het
Muc16	A	T	9: 18,550,958 (GRCm39)	W5112R	probably benign	Het
Ndrg2	A	G	14: 52,146,380 (GRCm39)	I140T	probably benign	Het
Nid2	C	A	14: 19,841,635 (GRCm39)	Q887K	probably benign	Het
Nop16	A	T	13: 54,737,550 (GRCm39)	S48T	possibly damaging	Het
Nrap	G	A	19: 56,354,859 (GRCm39)	T489I	possibly damaging	Het
Oas1e	C	T	5: 120,929,951 (GRCm39)	G189D	probably damaging	Het
Or4a39	A	G	2: 89,237,250 (GRCm39)	Y58H	possibly damaging	Het
Or7g34	A	T	9: 19,477,949 (GRCm39)	C244S	probably damaging	Het
Pcdha5	A	T	18: 37,095,171 (GRCm39)	D560V	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Phldb2	C	T	16: 45,594,603 (GRCm39)	D901N	possibly damaging	Het
Piezo1	T	C	8: 123,212,035 (GRCm39)	H2058R		Het
Ptgis	T	A	2: 167,048,758 (GRCm39)	K419N	possibly damaging	Het
Ptprz1	T	C	6: 23,022,266 (GRCm39)	F1714L	probably damaging	Het
Rasa2	T	C	9: 96,434,353 (GRCm39)		probably null	Het
Recql	C	T	6: 142,320,611 (GRCm39)	D146N	probably damaging	Het
Rnf6	T	G	5: 146,148,602 (GRCm39)	S139R	probably damaging	Het
Rock1	A	G	18: 10,067,631 (GRCm39)	S1301P	probably damaging	Het
Safb2	A	G	17: 56,889,982 (GRCm39)		probably null	Het
Setd5	T	A	6: 113,087,850 (GRCm39)	I137N	probably damaging	Het
Sf3b6	G	A	12: 4,870,619 (GRCm39)	R19Q	probably damaging	Het
Slc15a5	T	A	6: 138,020,496 (GRCm39)	H279L	possibly damaging	Het
Slc26a9	A	G	1: 131,681,711 (GRCm39)	T175A	probably damaging	Het
Sspo	A	T	6: 48,470,820 (GRCm39)	N36I	probably damaging	Het
Supv3l1	A	C	10: 62,268,090 (GRCm39)	F585C	probably damaging	Het
Tnrc6c	G	T	11: 117,632,507 (GRCm39)	V1070L	probably benign	Het
Vmn2r53	T	A	7: 12,315,846 (GRCm39)	M658L	probably benign	Het
Zc3h13	A	G	14: 75,546,349 (GRCm39)	D150G	unknown	Het
Zfp607b	T	C	7: 27,402,921 (GRCm39)	V459A	probably benign	Het
Zfp653	T	C	9: 21,982,427 (GRCm39)	R71G	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
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
R8153:Lztr1	UTSW	16	17,336,439 (GRCm39)	critical splice donor site	probably null
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'- AGTGGGAAGTCTGAAGCGTC -3'
(R):5'- AGGGTCTTCCTCACCGTAACATG -3'

Sequencing Primer
(F):5'- CCTTGCTGTCTGAAGAACTGAAG -3'
(R):5'- TTCCTCACCGTAACATGGGAATC -3'

Posted On

2019-10-17