Mutagenetix > Incidental Mutation

Incidental Mutation 'R9492:Maz'

717001

Institutional Source

Beutler Lab

Gene Symbol

Maz

Ensembl Gene

ENSMUSG00000030678

Gene Name

MYC-associated zinc finger protein (purine-binding transcription factor)

Synonyms

PUR1, Pur-1, SAF-1, SAF-2

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.510) question?

Stock #

R9492 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126621306-126626177 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 126622292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 443 (A443E)

Ref Sequence

ENSEMBL: ENSMUSP00000032916 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032915] [ENSMUST00000032916] [ENSMUST00000159916] [ENSMUST00000161931] [ENSMUST00000202045] [ENSMUST00000202624] [ENSMUST00000205461] [ENSMUST00000205568] [ENSMUST00000206254] [ENSMUST00000206291]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032915

SMART Domains

Protein: ENSMUSP00000032915
Gene: ENSMUSG00000030677

Domain	Start	End	E-Value	Type
KISc	36	371	1.12e-140	SMART
low complexity region	399	428	N/A	INTRINSIC
coiled coil region	460	496	N/A	INTRINSIC
HhH1	597	616	2.16e0	SMART
HhH1	627	646	8.65e0	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032916
AA Change: A443E

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032916
Gene: ENSMUSG00000030678
AA Change: A443E

Domain	Start	End	E-Value	Type
low complexity region	59	82	N/A	INTRINSIC
low complexity region	90	126	N/A	INTRINSIC
low complexity region	130	179	N/A	INTRINSIC
ZnF_C2H2	190	212	4.11e-2	SMART
low complexity region	231	272	N/A	INTRINSIC
ZnF_C2H2	279	301	6.78e-3	SMART
ZnF_C2H2	307	329	4.87e-4	SMART
ZnF_C2H2	337	360	1.22e-4	SMART
ZnF_C2H2	366	388	1.79e-2	SMART
ZnF_C2H2	392	413	6.57e0	SMART
low complexity region	435	451	N/A	INTRINSIC
low complexity region	465	476	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159916

SMART Domains

Protein: ENSMUSP00000124520
Gene: ENSMUSG00000045114

Domain	Start	End	E-Value	Type
low complexity region	69	82	N/A	INTRINSIC
low complexity region	91	112	N/A	INTRINSIC
low complexity region	146	169	N/A	INTRINSIC
Pfam:CD225	263	337	3.8e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161931

SMART Domains

Protein: ENSMUSP00000143833
Gene: ENSMUSG00000045114

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201686

Predicted Effect

probably benign
Transcript: ENSMUST00000202045

SMART Domains

Protein: ENSMUSP00000144042
Gene: ENSMUSG00000045114

Domain	Start	End	E-Value	Type
Pfam:CD225	1	52	3.5e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202624

SMART Domains

Protein: ENSMUSP00000144099
Gene: ENSMUSG00000107068

Domain	Start	End	E-Value	Type
low complexity region	64	77	N/A	INTRINSIC
Pfam:PAXIP1_C	85	176	5.9e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000205461
AA Change: A138E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000205568

Predicted Effect

probably benign
Transcript: ENSMUST00000205754

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206254
AA Change: A420E

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000206291

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	C	1: 120,078,472 (GRCm39)	K43T	probably damaging	Het
Abca12	A	G	1: 71,297,380 (GRCm39)	V2370A	possibly damaging	Het
Abca13	T	A	11: 9,243,667 (GRCm39)	C1843*	probably null	Het
Abr	C	T	11: 76,399,751 (GRCm39)	S82N	probably benign	Het
Acot2	T	C	12: 84,039,384 (GRCm39)	S298P	probably benign	Het
Acrbp	A	G	6: 125,038,062 (GRCm39)	D421G	probably benign	Het
Adam25	A	T	8: 41,206,736 (GRCm39)	M1L	probably benign	Het
Ano8	A	G	8: 71,934,784 (GRCm39)	V441A	possibly damaging	Het
Aoc1l1	T	C	6: 48,955,540 (GRCm39)	S717P	probably benign	Het
Atg2b	T	C	12: 105,624,549 (GRCm39)	H650R	probably benign	Het
Atp11a	C	T	8: 12,894,490 (GRCm39)	T695I	probably damaging	Het
AU018091	A	G	7: 3,214,023 (GRCm39)	S74P	probably benign	Het
Cadps2	A	G	6: 23,427,238 (GRCm39)	Y597H	probably benign	Het
Ccdc15	C	T	9: 37,215,665 (GRCm39)	E619K	probably damaging	Het
Ceacam11	G	T	7: 17,709,468 (GRCm39)	C222F	probably benign	Het
Cmya5	T	C	13: 93,177,822 (GRCm39)	*3677W	probably null	Het
Col11a1	G	C	3: 114,005,752 (GRCm39)	C1628S	probably benign	Het
Dhx8	T	C	11: 101,654,808 (GRCm39)	I1032T	possibly damaging	Het
Dpp10	T	C	1: 123,281,159 (GRCm39)	D630G	probably damaging	Het
Eci3	C	T	13: 35,143,976 (GRCm39)	G50R	probably benign	Het
Eif2a	A	G	3: 58,448,475 (GRCm39)	T103A	probably benign	Het
Frem1	T	C	4: 82,920,057 (GRCm39)	E432G	probably damaging	Het
Gdnf	C	T	15: 7,840,423 (GRCm39)		probably benign	Het
Hace1	T	A	10: 45,547,230 (GRCm39)	M471K	probably benign	Het
Hydin	A	G	8: 111,326,877 (GRCm39)	T4739A	possibly damaging	Het
Ilf2	A	G	3: 90,394,570 (GRCm39)	I320V	probably benign	Het
Iqgap3	C	A	3: 88,016,176 (GRCm39)	F986L	probably damaging	Het
Klhl21	T	C	4: 152,093,419 (GRCm39)	L7S	probably benign	Het
Lrrc61	G	T	6: 48,545,761 (GRCm39)	E195*	probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mtor	T	A	4: 148,568,801 (GRCm39)	L1107Q	probably damaging	Het
Nectin3	T	C	16: 46,215,511 (GRCm39)	H494R	probably benign	Het
Nlgn1	G	T	3: 25,488,480 (GRCm39)	Y618*	probably null	Het
Nup98	C	T	7: 101,778,252 (GRCm39)	E1372K	probably benign	Het
Or12e9	A	G	2: 87,201,960 (GRCm39)	N28S	probably benign	Het
Or5af1	T	C	11: 58,722,610 (GRCm39)	V210A	probably benign	Het
Otud6b	A	G	4: 14,818,349 (GRCm39)	I184T	probably damaging	Het
Pcsk6	A	G	7: 65,697,346 (GRCm39)	N891S	probably benign	Het
Pde4a	T	A	9: 21,106,096 (GRCm39)	L237Q	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pou3f1	A	G	4: 124,552,179 (GRCm39)	H227R	possibly damaging	Het
Prss53	G	A	7: 127,488,802 (GRCm39)	R31C	probably damaging	Het
Psmb8	T	A	17: 34,417,435 (GRCm39)	D21E	probably benign	Het
Ptprq	A	G	10: 107,478,813 (GRCm39)	Y1277H	probably damaging	Het
Rexo2	T	C	9: 48,380,176 (GRCm39)	T219A	probably benign	Het
Rfc3	A	G	5: 151,566,411 (GRCm39)	F346S	probably damaging	Het
Rhoq	A	T	17: 87,304,373 (GRCm39)	Q168L		Het
Sgk1	A	G	10: 21,874,096 (GRCm39)	N452S	probably damaging	Het
Slc35f3	A	G	8: 127,048,026 (GRCm39)	K122R	probably damaging	Het
Slc4a2	T	A	5: 24,644,761 (GRCm39)	M1021K	probably benign	Het
Sorcs2	A	G	5: 36,186,484 (GRCm39)	V886A	probably benign	Het
Spata20	T	A	11: 94,374,444 (GRCm39)	M308L	probably damaging	Het
Spen	A	T	4: 141,199,098 (GRCm39)	H3176Q	probably benign	Het
Stat5b	T	A	11: 100,692,361 (GRCm39)	H141L	probably benign	Het
Syne2	T	A	12: 75,995,839 (GRCm39)	H2126Q	possibly damaging	Het
Traj46	A	G	14: 54,409,851 (GRCm39)	T20A		Het
Trim30a	G	T	7: 104,078,330 (GRCm39)	Q249K	probably damaging	Het
Trmt13	A	G	3: 116,388,281 (GRCm39)	Y52H	probably benign	Het
Trpv3	A	G	11: 73,187,267 (GRCm39)	I700V	probably damaging	Het
Tyr	G	A	7: 87,121,704 (GRCm39)	H363Y	probably damaging	Het
Tyr	C	G	7: 87,121,705 (GRCm39)	M362I	possibly damaging	Het
Ubb	G	A	11: 62,442,984 (GRCm39)	V5M	probably damaging	Het
Unc5a	T	C	13: 55,150,288 (GRCm39)	L519P	probably damaging	Het
Uso1	A	G	5: 92,315,191 (GRCm39)	D185G	possibly damaging	Het
Vmn1r228	C	T	17: 20,996,862 (GRCm39)	E219K	probably damaging	Het
Wdr49	A	G	3: 75,240,669 (GRCm39)	V400A	probably damaging	Het
Zfp292	A	G	4: 34,810,794 (GRCm39)	M755T	probably benign	Het

Other mutations in Maz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01947:Maz	APN	7	126,623,614 (GRCm39)	critical splice donor site	probably null
R0049:Maz	UTSW	7	126,623,758 (GRCm39)	missense	probably damaging	1.00
R0049:Maz	UTSW	7	126,623,758 (GRCm39)	missense	probably damaging	1.00
R1381:Maz	UTSW	7	126,622,324 (GRCm39)	nonsense	probably null
R2114:Maz	UTSW	7	126,624,677 (GRCm39)	missense	probably damaging	1.00
R4628:Maz	UTSW	7	126,624,519 (GRCm39)	missense	possibly damaging	0.92
R4629:Maz	UTSW	7	126,624,519 (GRCm39)	missense	possibly damaging	0.92
R4895:Maz	UTSW	7	126,624,472 (GRCm39)	splice site	probably null
R5479:Maz	UTSW	7	126,624,860 (GRCm39)	missense	possibly damaging	0.79
R5668:Maz	UTSW	7	126,624,494 (GRCm39)	missense	probably damaging	1.00
R7008:Maz	UTSW	7	126,623,784 (GRCm39)	missense	probably damaging	1.00
R7324:Maz	UTSW	7	126,623,765 (GRCm39)	missense	probably damaging	1.00
R7325:Maz	UTSW	7	126,624,725 (GRCm39)	missense	probably benign	0.35
R7432:Maz	UTSW	7	126,622,220 (GRCm39)	missense	probably benign	0.33
R7456:Maz	UTSW	7	126,625,489 (GRCm39)	nonsense	probably null
R8285:Maz	UTSW	7	126,624,644 (GRCm39)	missense	possibly damaging	0.84
R9298:Maz	UTSW	7	126,625,075 (GRCm39)	small deletion	probably benign
R9383:Maz	UTSW	7	126,624,083 (GRCm39)	nonsense	probably null
R9549:Maz	UTSW	7	126,625,578 (GRCm39)	missense	unknown
R9593:Maz	UTSW	7	126,624,924 (GRCm39)	missense	probably damaging	1.00
RF003:Maz	UTSW	7	126,624,669 (GRCm39)	missense	probably damaging	1.00
X0035:Maz	UTSW	7	126,625,055 (GRCm39)	unclassified	probably benign
Z1088:Maz	UTSW	7	126,623,646 (GRCm39)	frame shift	probably null
Z1177:Maz	UTSW	7	126,625,068 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCTCCTTGGTTGATGAAGAGTC -3'
(R):5'- TGCTCAGTCTGGGTAAGCAG -3'

Sequencing Primer
(F):5'- CCTTGGTTGATGAAGAGTCGTGAG -3'
(R):5'- TCTGGGTAAGCAGGCAGGC -3'

Posted On

2022-07-18