Mutagenetix > Incidental Mutation

Incidental Mutation 'R9232:Lztr1'

700318

Institutional Source

Beutler Lab

Gene Symbol

Lztr1

Ensembl Gene

ENSMUSG00000022761

Gene Name

leucine-zipper-like transcriptional regulator, 1

Synonyms

TCFL2, 1200003E21Rik

MMRRC Submission

068986-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9232 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17326552-17344197 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17339343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 392 (V392A)

Ref Sequence

ENSEMBL: ENSMUSP00000023444 (fasta)

Gene Model

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

AlphaFold

Q9CQ33

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023444
AA Change: V392A

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023444
Gene: ENSMUSG00000022761
AA Change: V392A

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

possibly damaging
Transcript: ENSMUST00000231292
AA Change: V373A

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231307
AA Change: V55A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000231994

Predicted Effect

probably benign
Transcript: ENSMUST00000232372

Meta Mutation Damage Score

0.1540

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (53/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	A	T	18: 10,652,198 (GRCm39)	S278T	probably benign	Het
Adgrf1	T	C	17: 43,621,295 (GRCm39)	Y511H	probably benign	Het
Atp5pd	A	G	11: 115,309,221 (GRCm39)	F38S	probably benign	Het
Cdc6	T	G	11: 98,801,201 (GRCm39)	S151A	probably benign	Het
Ceacam12	T	A	7: 17,803,341 (GRCm39)	M249K	probably benign	Het
Cenpt	T	C	8: 106,571,793 (GRCm39)	Q446R	probably damaging	Het
Cnnm1	T	A	19: 43,480,325 (GRCm39)	S883T	probably benign	Het
Cntn6	T	C	6: 104,815,781 (GRCm39)	W721R	probably damaging	Het
Defb43	A	G	14: 63,255,281 (GRCm39)	K38R	probably damaging	Het
Eif2a	T	C	3: 58,463,022 (GRCm39)	S522P	probably benign	Het
Erap1	T	G	13: 74,811,637 (GRCm39)	S332R	probably benign	Het
Foxa3	C	A	7: 18,748,790 (GRCm39)	R112L	probably damaging	Het
Foxf1	T	A	8: 121,811,715 (GRCm39)	M193K	possibly damaging	Het
Gbp11	T	C	5: 105,476,290 (GRCm39)	Y273C	possibly damaging	Het
Gli2	T	A	1: 118,764,021 (GRCm39)	T1377S	probably benign	Het
Gm10271	T	A	10: 116,808,479 (GRCm39)	L12F	probably damaging	Het
Grm5	G	A	7: 87,723,591 (GRCm39)	G627D	probably damaging	Het
Gtf3c4	A	G	2: 28,724,848 (GRCm39)	S295P	probably damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Igsf10	G	A	3: 59,243,843 (GRCm39)	R164W	probably damaging	Het
Iqch	T	A	9: 63,329,200 (GRCm39)	M1045L	probably benign	Het
Kcnt2	T	C	1: 140,411,931 (GRCm39)	S455P	possibly damaging	Het
Kif26b	G	A	1: 178,742,511 (GRCm39)	G869E	probably damaging	Het
Kit	A	G	5: 75,799,792 (GRCm39)	N508S	probably benign	Het
Lgals8	C	T	13: 12,469,777 (GRCm39)	V61M	probably damaging	Het
Mad1l1	T	A	5: 140,091,296 (GRCm39)	M524L	probably benign	Het
Mob3b	T	C	4: 34,986,101 (GRCm39)	N146D	probably benign	Het
Muc16	T	C	9: 18,567,336 (GRCm39)	T1728A	unknown	Het
Nlgn2	T	C	11: 69,718,855 (GRCm39)	H278R	probably damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Plce1	A	G	19: 38,705,423 (GRCm39)	M943V	probably benign	Het
Pramel25	T	G	4: 143,520,263 (GRCm39)	L169R	probably benign	Het
Proser2	A	G	2: 6,106,015 (GRCm39)	L183P	probably benign	Het
Prss36	T	C	7: 127,543,988 (GRCm39)	I128V	probably benign	Het
Rabggta	C	T	14: 55,956,745 (GRCm39)	V320I	probably benign	Het
Sepsecs	A	G	5: 52,823,344 (GRCm39)	V125A	probably benign	Het
Sik3	C	T	9: 46,123,216 (GRCm39)	P1005L	probably benign	Het
Slc22a20	A	T	19: 6,023,009 (GRCm39)	I378N	possibly damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Tap1	T	C	17: 34,412,277 (GRCm39)	V494A	probably benign	Het
Tg	A	G	15: 66,570,310 (GRCm39)	D1394G	probably benign	Het
Tgfbr3	T	C	5: 107,290,361 (GRCm39)	T315A	possibly damaging	Het
Tmc2	A	G	2: 130,085,049 (GRCm39)	T559A	probably damaging	Het
Tph1	A	G	7: 46,311,529 (GRCm39)	I71T	probably benign	Het
Trib3	A	T	2: 152,184,962 (GRCm39)	C96S	probably damaging	Het
Trim28	G	A	7: 12,763,490 (GRCm39)	A544T	probably benign	Het
Trim56	A	G	5: 137,141,632 (GRCm39)	V628A	probably damaging	Het
Ttc6	A	G	12: 57,776,210 (GRCm39)	Y1718C	probably damaging	Het
Tuft1	T	C	3: 94,529,445 (GRCm39)	Q244R	probably benign	Het
Unc13b	A	G	4: 43,240,321 (GRCm39)	T793A	probably benign	Het
Vmn1r39	A	G	6: 66,781,580 (GRCm39)	I246T	possibly damaging	Het
Xpo1	T	C	11: 23,232,646 (GRCm39)	S389P	probably benign	Het
Zdbf2	T	C	1: 63,347,168 (GRCm39)	F1849S	possibly 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
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
R9667:Lztr1	UTSW	16	17,327,000 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAACCTCTGTTCAAGGGACTAGG -3'
(R):5'- ACCGTAGTAAGGGTCCCTTCTC -3'

Sequencing Primer
(F):5'- CAAGGGACTAGGATCTTTGGCC -3'
(R):5'- AAGCTGCTCAGAGATGCC -3'

Posted On

2022-02-07