Mutagenetix > Incidental Mutation

Incidental Mutation 'R9383:Maz'

710155

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 #

R9383 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126621306-126626177 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 126624083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 358 (Q358*)

Ref Sequence

ENSEMBL: ENSMUSP00000032916 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032915] [ENSMUST00000032916] [ENSMUST00000159916] [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

probably null
Transcript: ENSMUST00000032916
AA Change: Q358*

SMART Domains

Protein: ENSMUSP00000032916
Gene: ENSMUSG00000030678
AA Change: Q358*

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: 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 benign
Transcript: ENSMUST00000205461

Predicted Effect

probably null
Transcript: ENSMUST00000205568
AA Change: Q358*

Predicted Effect

probably benign
Transcript: ENSMUST00000205754

Predicted Effect

probably null
Transcript: ENSMUST00000206254
AA Change: Q335*

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg5	A	G	8: 95,661,162 (GRCm39)	E124G		Het
Atp1a2	T	C	1: 172,107,334 (GRCm39)	I729V	probably benign	Het
Ccn2	T	G	10: 24,471,883 (GRCm39)	V58G	possibly damaging	Het
Chd2	T	A	7: 73,098,918 (GRCm39)	E1467V	probably null	Het
Col6a5	T	C	9: 105,803,110 (GRCm39)	D1285G	unknown	Het
Coro7	A	G	16: 4,452,888 (GRCm39)	C287R	probably damaging	Het
Cpa3	T	C	3: 20,283,045 (GRCm39)	E134G	probably benign	Het
Csf3r	C	T	4: 125,937,239 (GRCm39)	P708S	possibly damaging	Het
Defb30	T	C	14: 63,273,463 (GRCm39)	E49G	probably benign	Het
Dnah3	A	T	7: 119,646,819 (GRCm39)	I1070K	probably benign	Het
Dnm2	G	A	9: 21,383,920 (GRCm39)	V234M	probably damaging	Het
Drg2	T	A	11: 60,350,287 (GRCm39)	M82K	probably benign	Het
Dus2	G	A	8: 106,776,950 (GRCm39)	E312K	probably benign	Het
Efcab6	T	C	15: 83,756,620 (GRCm39)	E1240G	possibly damaging	Het
Ep400	T	C	5: 110,833,351 (GRCm39)	E1957G	unknown	Het
Gpnmb	A	G	6: 49,028,918 (GRCm39)	S479G	probably damaging	Het
Gpr153	T	C	4: 152,367,516 (GRCm39)	S456P	probably benign	Het
Gprc5b	A	T	7: 118,575,761 (GRCm39)	M388K	probably damaging	Het
H2-T23	T	C	17: 36,343,227 (GRCm39)	D50G	possibly damaging	Het
Hipk1	T	C	3: 103,684,883 (GRCm39)	E244G	probably damaging	Het
Malrd1	T	A	2: 15,700,012 (GRCm39)	C620S	unknown	Het
Mcc	A	T	18: 44,575,985 (GRCm39)	I901N	probably benign	Het
Megf11	T	G	9: 64,545,732 (GRCm39)	C172G	probably damaging	Het
Mipol1	A	G	12: 57,352,820 (GRCm39)	Y53C	probably benign	Het
Nectin4	C	T	1: 171,213,251 (GRCm39)	T391I	probably damaging	Het
Nell2	A	T	15: 95,282,957 (GRCm39)	Y362N	possibly damaging	Het
Nphp4	T	C	4: 152,628,918 (GRCm39)		probably null	Het
Nsun4	A	G	4: 115,891,473 (GRCm39)	V302A	probably benign	Het
Odf2	T	A	2: 29,791,249 (GRCm39)	L181H	probably damaging	Het
Opn1sw	A	G	6: 29,378,000 (GRCm39)	S328P	possibly damaging	Het
Or8k30	T	C	2: 86,338,854 (GRCm39)	I17T	probably damaging	Het
Pga5	C	T	19: 10,646,897 (GRCm39)	G303S	probably damaging	Het
Pik3c2g	T	A	6: 139,827,742 (GRCm39)	Y712*	probably null	Het
Pkd1	C	T	17: 24,794,900 (GRCm39)	R2196C	probably damaging	Het
Pkd1l3	TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA	TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA	8: 110,350,601 (GRCm39)		probably benign	Het
Plekhm2	A	T	4: 141,359,612 (GRCm39)	M385K	probably damaging	Het
Pole	T	C	5: 110,438,892 (GRCm39)	V164A	possibly damaging	Het
Prr19	T	A	7: 25,002,335 (GRCm39)	F11Y	probably damaging	Het
Prtg	G	T	9: 72,757,143 (GRCm39)	L355F	probably benign	Het
Raph1	C	A	1: 60,564,829 (GRCm39)	M219I	unknown	Het
Rtkn2	A	G	10: 67,839,094 (GRCm39)	D140G	possibly damaging	Het
Serpina5	T	C	12: 104,070,131 (GRCm39)	S343P	probably damaging	Het
Slc1a1	A	G	19: 28,889,125 (GRCm39)	K466R	probably benign	Het
Slc43a1	G	A	2: 84,690,506 (GRCm39)	V518M	probably damaging	Het
Slc47a2	A	G	11: 61,227,749 (GRCm39)	L125P	probably damaging	Het
Slc4a7	C	A	14: 14,766,803 (GRCm38)	C585*	probably null	Het
Snx19	A	G	9: 30,347,196 (GRCm39)	E713G	probably damaging	Het
Tiam1	C	T	16: 89,655,561 (GRCm39)	V715M	probably damaging	Het
Tln2	T	A	9: 67,278,043 (GRCm39)	M322L	probably benign	Het
Top2a	G	A	11: 98,901,884 (GRCm39)	R449*	probably null	Het
Trpv4	C	A	5: 114,796,474 (GRCm39)		probably benign	Het
Vmn1r214	A	C	13: 23,219,095 (GRCm39)	R196S	probably benign	Het
Vmn1r43	A	T	6: 89,846,552 (GRCm39)	H311Q	possibly damaging	Het
Vmn1r54	A	G	6: 90,247,009 (GRCm39)	T308A	probably benign	Het
Zfand3	T	A	17: 30,354,479 (GRCm39)	Y99N	probably benign	Het
Zfp119b	T	C	17: 56,246,355 (GRCm39)	Y277C	probably damaging	Het
Zfp345	G	A	2: 150,314,503 (GRCm39)	H345Y	possibly damaging	Het
Zyg11a	T	C	4: 108,046,926 (GRCm39)	E516G	probably damaging	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
R9492:Maz	UTSW	7	126,622,292 (GRCm39)	missense	possibly damaging	0.92
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'- TGAGATGACCAGGCCTTGAAG -3'
(R):5'- TGAAGGAAAGCAGCCTCTGG -3'

Sequencing Primer
(F):5'- CCAGGCCTTGAAGGAGAAATGTG -3'
(R):5'- CTCTGGGCAGAAGAGGAATCTTG -3'

Posted On

2022-04-18