Mutagenetix > Incidental Mutation

Incidental Mutation 'R7175:Lztr1'

558573

Institutional Source

Beutler Lab

Gene Symbol

Lztr1

Ensembl Gene

ENSMUSG00000022761

Gene Name

leucine-zipper-like transcriptional regulator, 1

Synonyms

TCFL2, 1200003E21Rik

MMRRC Submission

045231-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7175 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17326552-17344197 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 17340895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 557 (C557F)

Ref Sequence

ENSEMBL: ENSMUSP00000023444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023444] [ENSMUST00000100125] [ENSMUST00000231292] [ENSMUST00000231307] [ENSMUST00000231994] [ENSMUST00000232372]

AlphaFold

Q9CQ33

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023444
AA Change: C557F

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023444
Gene: ENSMUSG00000022761
AA Change: C557F

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: ENSMUST00000100125

SMART Domains

Protein: ENSMUSP00000097701
Gene: ENSMUSG00000022760

Domain	Start	End	E-Value	Type
THAP	3	99	5e-20	SMART
DM3	25	98	4.22e-20	SMART
low complexity region	118	130	N/A	INTRINSIC
low complexity region	153	164	N/A	INTRINSIC
coiled coil region	239	296	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000231292
AA Change: C538F

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231307
AA Change: C220F

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000231994

Predicted Effect

probably benign
Transcript: ENSMUST00000232372

Meta Mutation Damage Score

0.2196

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

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
Abcb5	G	A	12: 118,831,611 (GRCm39)	T1247I	probably benign	Het
Afdn	T	C	17: 14,108,869 (GRCm39)	L1479P	probably damaging	Het
Alox12e	T	C	11: 70,210,534 (GRCm39)	R363G	probably damaging	Het
Ank2	A	T	3: 126,740,590 (GRCm39)	S1765T	unknown	Het
Anks6	T	C	4: 47,046,268 (GRCm39)		probably null	Het
Apob	A	C	12: 8,057,034 (GRCm39)	I1839L	probably benign	Het
Bdp1	C	A	13: 100,186,478 (GRCm39)	R1658I	probably damaging	Het
Ccs	T	A	19: 4,883,390 (GRCm39)	D136V	probably damaging	Het
Cd200	T	C	16: 45,220,578 (GRCm39)		probably null	Het
Cirbp	T	C	10: 80,006,297 (GRCm39)	S130P	probably benign	Het
Cpb1	A	G	3: 20,317,927 (GRCm39)	I199T	probably benign	Het
Csn3	C	T	5: 88,077,586 (GRCm39)	R31C	probably damaging	Het
Dcaf1	A	T	9: 106,735,775 (GRCm39)	I908F	probably benign	Het
Dhcr7	C	T	7: 143,399,227 (GRCm39)	T199I	probably damaging	Het
Dnah9	T	A	11: 66,024,463 (GRCm39)	Q277L	probably benign	Het
Echdc2	C	A	4: 108,031,366 (GRCm39)	P237T	probably damaging	Het
Efcab3	T	C	11: 104,838,237 (GRCm39)	V3625A	unknown	Het
Eif4g3	A	G	4: 137,853,526 (GRCm39)	N364S	probably damaging	Het
Eml6	T	A	11: 29,734,231 (GRCm39)	I1170L	probably benign	Het
Epha3	C	T	16: 63,403,863 (GRCm39)	R746Q	probably damaging	Het
Exosc5	G	A	7: 25,363,794 (GRCm39)	C102Y	probably damaging	Het
Fam91a1	A	T	15: 58,302,527 (GRCm39)	Y289F	probably benign	Het
Fbxo38	A	C	18: 62,648,544 (GRCm39)	F665V	probably benign	Het
Fcrl5	T	C	3: 87,353,645 (GRCm39)	V330A	probably benign	Het
Fer	T	A	17: 64,231,090 (GRCm39)	D280E	probably benign	Het
Gpr158	A	G	2: 21,373,113 (GRCm39)	H16R	probably benign	Het
Gzmg	C	T	14: 56,396,979 (GRCm39)	M1I	probably null	Het
Hectd4	C	T	5: 121,411,692 (GRCm39)	A456V	possibly damaging	Het
Hk2	T	A	6: 82,711,830 (GRCm39)	Q613L	probably benign	Het
Inhca	A	G	9: 103,128,988 (GRCm39)		probably null	Het
Itsn1	T	C	16: 91,664,938 (GRCm39)	F1121L	unknown	Het
Mdn1	A	G	4: 32,694,634 (GRCm39)	Y1119C	probably damaging	Het
Nfkb1	A	T	3: 135,319,751 (GRCm39)	L248Q	probably damaging	Het
Or1a1	T	A	11: 74,087,004 (GRCm39)	L225*	probably null	Het
Or1p1b	T	C	11: 74,130,803 (GRCm39)	F138L	probably benign	Het
Or2g7	T	A	17: 38,378,370 (GRCm39)	S103T	probably damaging	Het
Or52e19	T	C	7: 102,959,054 (GRCm39)	V42A	probably benign	Het
Otulinl	A	C	15: 27,658,374 (GRCm39)	D165E	probably damaging	Het
Pate1	T	G	9: 35,596,408 (GRCm39)	D119A	probably damaging	Het
Pcdhgc4	T	C	18: 37,949,424 (GRCm39)	V280A	possibly damaging	Het
Pik3ap1	T	C	19: 41,275,929 (GRCm39)	D717G	probably damaging	Het
Prdm13	A	T	4: 21,679,473 (GRCm39)	L339Q	unknown	Het
Rasgrf1	T	A	9: 89,862,802 (GRCm39)	N519K	probably benign	Het
Rergl	A	G	6: 139,473,533 (GRCm39)	V39A	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sema4b	T	A	7: 79,848,402 (GRCm39)	M1K	probably null	Het
Slc20a1	T	G	2: 129,052,662 (GRCm39)	L648R	probably damaging	Het
Spata31h1	T	A	10: 82,122,583 (GRCm39)	S3476C	probably damaging	Het
Speg	A	G	1: 75,399,134 (GRCm39)	T2194A	probably benign	Het
Spns1	T	C	7: 125,972,961 (GRCm39)	D215G	probably damaging	Het
Tle4	A	T	19: 14,429,071 (GRCm39)	V717E	probably damaging	Het
Trim50	T	A	5: 135,382,151 (GRCm39)	M1K	probably null	Het
Trpa1	A	G	1: 14,963,431 (GRCm39)	V597A	possibly damaging	Het
Usp13	C	T	3: 32,971,757 (GRCm39)	Q746*	probably null	Het
Vmn1r35	A	T	6: 66,655,906 (GRCm39)	W255R	probably benign	Het
Vps35	A	T	8: 85,990,189 (GRCm39)		probably null	Het
Vps54	T	C	11: 21,265,028 (GRCm39)		probably null	Het
Zfp318	T	A	17: 46,697,774 (GRCm39)	L210Q	probably damaging	Het
Zfp319	C	A	8: 96,055,410 (GRCm39)	K264N	probably damaging	Het
Zfp62	C	T	11: 49,107,580 (GRCm39)	S557L	probably damaging	Het
Zgrf1	T	C	3: 127,357,239 (GRCm39)	S822P	probably damaging	Het
Zxdc	A	G	6: 90,346,645 (GRCm39)	D2G	possibly damaging	Het
Zzef1	T	C	11: 72,742,727 (GRCm39)	I769T	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
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
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'- GCACAAACCTGTTACCCTTG -3'
(R):5'- CTGGGCAACAAAGCATGTAG -3'

Sequencing Primer
(F):5'- ACCCTTGATGATAGCAGTTGACCTG -3'
(R):5'- GCAAGGAGCACGGGCAC -3'

Posted On

2019-06-26