Mutagenetix > Incidental Mutation

Incidental Mutation 'R9593:Maz'

723099

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 #

R9593 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126621306-126626177 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126624924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 199 (F199L)

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 damaging
Transcript: ENSMUST00000032916
AA Change: F199L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032916
Gene: ENSMUSG00000030678
AA Change: F199L

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

possibly damaging
Transcript: ENSMUST00000205568
AA Change: F199L

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000205754

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206254
AA Change: F176L

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000206291

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	T	A	1: 192,857,087 (GRCm39)	D146E	probably benign	Het
Acaca	C	T	11: 84,271,339 (GRCm39)	Q2058*	probably null	Het
Adam39	T	A	8: 41,279,744 (GRCm39)	C712S	possibly damaging	Het
Aipl1	T	C	11: 71,921,161 (GRCm39)	E219G	probably benign	Het
Ankrd24	A	G	10: 81,475,898 (GRCm39)	R301G	unknown	Het
Arhgef17	A	G	7: 100,532,009 (GRCm39)	F272L	probably damaging	Het
B3galt2	T	A	1: 143,522,604 (GRCm39)	Y247N	probably damaging	Het
Bltp1	T	C	3: 37,002,090 (GRCm39)	V1345A	probably damaging	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Cat	T	C	2: 103,285,433 (GRCm39)	E503G	probably benign	Het
Cemip2	T	C	19: 21,803,453 (GRCm39)	S829P	probably damaging	Het
Coro1b	T	A	19: 4,199,497 (GRCm39)	V52E	probably damaging	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Dip2c	T	A	13: 9,704,683 (GRCm39)	M1344K	possibly damaging	Het
Dnah5	A	G	15: 28,236,774 (GRCm39)	I367V	probably benign	Het
Dock2	T	C	11: 34,178,607 (GRCm39)	T1807A	probably benign	Het
Dusp10	T	A	1: 183,806,643 (GRCm39)	F459I	probably damaging	Het
Elac1	A	T	18: 73,872,089 (GRCm39)	L302Q	probably benign	Het
Entrep3	T	A	3: 89,091,199 (GRCm39)	S57T	probably benign	Het
Fdx2	A	T	9: 20,979,097 (GRCm39)	Y165N	probably damaging	Het
Gabra2	C	T	5: 71,165,353 (GRCm39)	V206I	possibly damaging	Het
Gabrg1	T	C	5: 70,939,808 (GRCm39)	E108G	probably damaging	Het
Gm29394	A	G	15: 57,932,722 (GRCm39)	L5P	probably benign	Het
Gnb1l	C	T	16: 18,362,914 (GRCm39)	P101S	probably benign	Het
Hectd4	C	A	5: 121,424,844 (GRCm39)	S749*	probably null	Het
Hmcn2	A	G	2: 31,244,742 (GRCm39)	Y733C	probably damaging	Het
Inafm1	G	A	7: 16,007,059 (GRCm39)	L53F	probably damaging	Het
Iqgap3	G	A	3: 88,011,657 (GRCm39)	R814H	probably damaging	Het
Map3k19	A	G	1: 127,778,163 (GRCm39)	C21R	probably benign	Het
Mis18bp1	A	G	12: 65,187,628 (GRCm39)	I825T	probably damaging	Het
Mpp3	T	A	11: 101,907,506 (GRCm39)	T211S	possibly damaging	Het
Mtrf1	T	C	14: 79,656,664 (GRCm39)	Y389H	probably damaging	Het
Myo3b	G	A	2: 70,075,648 (GRCm39)	G579R	probably benign	Het
Nlrp4e	T	C	7: 23,020,197 (GRCm39)	V228A	probably benign	Het
Npepps	T	A	11: 97,149,179 (GRCm39)		probably null	Het
Ntng1	A	G	3: 109,842,224 (GRCm39)	L183P	probably damaging	Het
Or8c16	A	G	9: 38,130,868 (GRCm39)	T247A	probably benign	Het
Pcdha4	A	C	18: 37,086,740 (GRCm39)	I308L	probably benign	Het
Pear1	G	T	3: 87,658,480 (GRCm39)	Q964K	probably benign	Het
Plekhg2	A	T	7: 28,059,710 (GRCm39)	D1182E	possibly damaging	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Ptpn13	T	A	5: 103,674,998 (GRCm39)	D658E	possibly damaging	Het
Ptprq	T	C	10: 107,524,254 (GRCm39)	Y493C	possibly damaging	Het
Rnd1	A	G	15: 98,570,526 (GRCm39)	W107R	probably damaging	Het
Scn5a	G	A	9: 119,315,839 (GRCm39)	T1623M	probably damaging	Het
Sec23b	T	C	2: 144,410,564 (GRCm39)	I288T	probably benign	Het
Slfn14	T	A	11: 83,174,733 (GRCm39)	H86L	probably benign	Het
Smchd1	G	A	17: 71,701,828 (GRCm39)	H1055Y	probably damaging	Het
Sox13	G	A	1: 133,316,214 (GRCm39)	P243S	probably damaging	Het
St3gal6	C	A	16: 58,305,136 (GRCm39)	E109*	probably null	Het
Traf4	T	C	11: 78,056,253 (GRCm39)	D5G	possibly damaging	Het
Trank1	G	T	9: 111,191,365 (GRCm39)	C458F	probably benign	Het
Ttc41	T	C	10: 86,549,049 (GRCm39)	F81S	probably benign	Het
Tulp1	C	T	17: 28,572,802 (GRCm39)	W451*	probably null	Het
Tyms	T	C	5: 30,269,110 (GRCm39)	I171V		Het
Vmn2r115	T	A	17: 23,578,184 (GRCm39)	N552K	probably damaging	Het
Zfp710	T	A	7: 79,730,909 (GRCm39)	S29T	possibly 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
R9383:Maz	UTSW	7	126,624,083 (GRCm39)	nonsense	probably null
R9492:Maz	UTSW	7	126,622,292 (GRCm39)	missense	possibly damaging	0.92
R9549:Maz	UTSW	7	126,625,578 (GRCm39)	missense	unknown
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'- GATTCTTCCGGATGCGCTTC -3'
(R):5'- GAGTCCATTCCAGGTGAGTAG -3'

Sequencing Primer
(F):5'- AGGCAGTCGTGGTCACAAC -3'
(R):5'- AAGTGGACTTGCTCCCGGTTC -3'

Posted On

2022-08-09