Mutagenetix > Incidental Mutation

Incidental Mutation 'R7199:Zeb1'

560209

Institutional Source

Beutler Lab

Gene Symbol

Zeb1

Ensembl Gene

ENSMUSG00000024238

Gene Name

zinc finger E-box binding homeobox 1

Synonyms

Nil2, Tcf18, 3110032K11Rik, Zfhep, ZEB, AREB6, Tcf8, Zfhx1a, MEB1, Tw, [delta]EF1, Zfx1a

MMRRC Submission

045277-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R7199 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5591860-5775467 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5767703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 738 (V738A)

Ref Sequence

ENSEMBL: ENSMUSP00000025081 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025081] [ENSMUST00000159390] [ENSMUST00000175925]

AlphaFold

Q64318

Predicted Effect

probably benign
Transcript: ENSMUST00000025081
AA Change: V738A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000025081
Gene: ENSMUSG00000024238
AA Change: V738A

Domain	Start	End	E-Value	Type
low complexity region	13	30	N/A	INTRINSIC
ZnF_C2H2	150	173	3.16e-3	SMART
ZnF_C2H2	180	202	3.21e-4	SMART
ZnF_C2H2	220	242	4.87e-4	SMART
ZnF_C2H2	248	268	1.86e1	SMART
low complexity region	288	304	N/A	INTRINSIC
low complexity region	532	555	N/A	INTRINSIC
HOX	559	621	7.53e-3	SMART
low complexity region	730	742	N/A	INTRINSIC
low complexity region	766	783	N/A	INTRINSIC
ZnF_C2H2	882	904	1.18e-2	SMART
ZnF_C2H2	910	932	4.4e-2	SMART
ZnF_C2H2	938	959	1.89e-1	SMART
coiled coil region	1006	1077	N/A	INTRINSIC
low complexity region	1096	1112	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159390

SMART Domains

Protein: ENSMUSP00000124395
Gene: ENSMUSG00000024238

Domain	Start	End	E-Value	Type
low complexity region	13	30	N/A	INTRINSIC
ZnF_C2H2	96	119	3.16e-3	SMART
ZnF_C2H2	126	148	3.21e-4	SMART
ZnF_C2H2	166	188	4.87e-4	SMART
ZnF_C2H2	194	214	1.86e1	SMART
low complexity region	234	250	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161295

Predicted Effect

probably benign
Transcript: ENSMUST00000175925

SMART Domains

Protein: ENSMUSP00000135125
Gene: ENSMUSG00000024238

Domain	Start	End	E-Value	Type
ZnF_C2H2	130	153	3.16e-3	SMART
ZnF_C2H2	160	182	3.21e-4	SMART
ZnF_C2H2	200	222	4.87e-4	SMART
ZnF_C2H2	228	248	1.86e1	SMART
low complexity region	268	284	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc finger transcription factor. The encoded protein likely plays a role in transcriptional repression of interleukin 2. Mutations in this gene have been associated with posterior polymorphous corneal dystrophy-3 and late-onset Fuchs endothelial corneal dystrophy. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2010]
PHENOTYPE: Mutations at this locus affect thymus organization and homozygotes exhibit severe thymic T cell deficiency. Some mutations result in eye anomalies and extensive skeletal abnormalities. Homozygotes generally die at birth due to respiratory failure. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(4)

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	G	16: 88,555,902 (GRCm39)	T39A	probably damaging	Het
Abca3	G	A	17: 24,596,681 (GRCm39)	G378D	probably damaging	Het
Abtb2	T	C	2: 103,397,565 (GRCm39)	V165A	possibly damaging	Het
Ache	A	G	5: 137,288,504 (GRCm39)	E70G	probably damaging	Het
Adamtsl4	T	C	3: 95,588,119 (GRCm39)	T623A	probably benign	Het
Ahdc1	G	A	4: 132,791,935 (GRCm39)	V1059I	probably benign	Het
Ajuba	G	A	14: 54,810,915 (GRCm39)	Q357*	probably null	Het
Ano7	A	T	1: 93,330,700 (GRCm39)	D54V		Het
Apob	A	T	12: 8,055,072 (GRCm39)	D1357V	probably damaging	Het
Atad2b	T	A	12: 5,067,992 (GRCm39)	Y997N	probably damaging	Het
Bhlhe22	C	A	3: 18,110,006 (GRCm39)	T352K	probably damaging	Het
Bsn	T	C	9: 107,992,533 (GRCm39)	E1073G	probably damaging	Het
Bzw2	G	A	12: 36,180,054 (GRCm39)	R58*	probably null	Het
C7	G	T	15: 5,023,725 (GRCm39)	S694R	probably benign	Het
Cbr2	T	A	11: 120,621,087 (GRCm39)	H170L	probably benign	Het
Cdcp3	G	A	7: 130,837,641 (GRCm39)	W512*	probably null	Het
Cgas	C	A	9: 78,340,315 (GRCm39)	K472N	probably benign	Het
Ckap2l	T	C	2: 129,126,975 (GRCm39)	N401S	probably benign	Het
Cldn1	A	G	16: 26,190,346 (GRCm39)	F11L	probably benign	Het
Cmtr1	A	G	17: 29,895,174 (GRCm39)	T118A	probably benign	Het
Cog6	T	C	3: 52,890,610 (GRCm39)	E610G	probably benign	Het
Col3a1	G	T	1: 45,371,301 (GRCm39)	A451S	probably null	Het
Cr1l	T	A	1: 194,799,878 (GRCm39)	R265S	probably benign	Het
Dapk1	T	C	13: 60,902,024 (GRCm39)	I951T	probably benign	Het
Dnah9	T	C	11: 66,009,770 (GRCm39)	N706D	probably benign	Het
Dpysl5	A	T	5: 30,940,539 (GRCm39)	T239S	probably benign	Het
Ect2l	T	A	10: 18,004,894 (GRCm39)	Y913F	probably benign	Het
Elf5	C	A	2: 103,269,641 (GRCm39)	A74D	possibly damaging	Het
Erap1	T	C	13: 74,814,258 (GRCm39)	V399A	probably benign	Het
Ercc4	A	G	16: 12,965,657 (GRCm39)	D763G	probably damaging	Het
Fam222b	T	A	11: 78,045,683 (GRCm39)	C415S	possibly damaging	Het
Fat4	A	C	3: 39,031,511 (GRCm39)	N2432T	probably damaging	Het
Fbn2	G	T	18: 58,186,833 (GRCm39)	C1689*	probably null	Het
Frrs1l	T	A	4: 56,972,282 (GRCm39)	T140S	probably damaging	Het
Gm5141	A	T	13: 62,924,877 (GRCm39)	H10Q	possibly damaging	Het
Inafm1	A	T	7: 16,007,079 (GRCm39)	L46Q	probably damaging	Het
Irak2	T	C	6: 113,650,045 (GRCm39)	L260P	probably damaging	Het
Kat2b	T	C	17: 53,977,706 (GRCm39)	L751P	probably damaging	Het
Kcnh1	T	A	1: 192,019,913 (GRCm39)	I413N	probably benign	Het
Kirrel1	T	C	3: 86,990,695 (GRCm39)	D709G	probably benign	Het
Lama4	T	C	10: 38,956,536 (GRCm39)	V1153A	possibly damaging	Het
Lipg	A	T	18: 75,088,655 (GRCm39)	F98L	probably benign	Het
Lman1	T	C	18: 66,127,936 (GRCm39)	E236G	probably damaging	Het
Lrp1	T	A	10: 127,409,325 (GRCm39)	D1598V	probably damaging	Het
Lrrc71	T	A	3: 87,650,384 (GRCm39)	N230Y	probably damaging	Het
Maneal	T	C	4: 124,750,983 (GRCm39)	S258G	possibly damaging	Het
Marchf10	T	A	11: 105,281,532 (GRCm39)	E251V	probably damaging	Het
Mpdz	A	G	4: 81,215,570 (GRCm39)	I1484T	probably damaging	Het
Mtcl1	T	A	17: 66,647,534 (GRCm39)	N1882I	probably benign	Het
Neb	G	A	2: 52,110,212 (GRCm39)	A212V	probably benign	Het
Obscn	G	A	11: 58,903,672 (GRCm39)	S7434L	probably benign	Het
Or14j8	A	C	17: 38,263,048 (GRCm39)	I289S	probably damaging	Het
Or1ad8	T	A	11: 50,898,223 (GRCm39)	C141*	probably null	Het
Or1j12	A	T	2: 36,342,872 (GRCm39)	I92F	probably damaging	Het
Or4k47	T	C	2: 111,451,538 (GRCm39)	M294V	probably benign	Het
Or8g2b	A	G	9: 39,750,753 (GRCm39)	M8V	probably benign	Het
Orc6	T	C	8: 86,029,590 (GRCm39)		probably null	Het
Otogl	T	G	10: 107,710,394 (GRCm39)	E565A	possibly damaging	Het
Papss1	A	G	3: 131,290,899 (GRCm39)	Q214R	probably benign	Het
Pck2	G	A	14: 55,786,169 (GRCm39)	V653M	probably benign	Het
Plxna4	G	A	6: 32,192,113 (GRCm39)	Q826*	probably null	Het
Pms1	T	A	1: 53,295,889 (GRCm39)	T161S	probably benign	Het
Prkar2a	C	A	9: 108,617,669 (GRCm39)	N242K	probably damaging	Het
Prss1	T	A	6: 41,439,690 (GRCm39)	I141N	probably damaging	Het
Puf60	A	G	15: 75,943,717 (GRCm39)	V235A	probably damaging	Het
Rapgef6	T	A	11: 54,437,252 (GRCm39)	F65Y	probably benign	Het
Rasgef1b	T	C	5: 99,447,898 (GRCm39)	E104G	unknown	Het
Rcn3	T	C	7: 44,734,333 (GRCm39)	Y225C	probably damaging	Het
Rhot1	G	C	11: 80,137,560 (GRCm39)	W354S	probably damaging	Het
Rp1	T	C	1: 4,417,513 (GRCm39)	S1200G	possibly damaging	Het
Scaper	T	A	9: 55,745,460 (GRCm39)	K603*	probably null	Het
Selenbp1	G	A	3: 94,851,745 (GRCm39)	V429I	possibly damaging	Het
Setd5	T	G	6: 113,098,099 (GRCm39)	S713A	probably benign	Het
Shank1	T	C	7: 44,002,564 (GRCm39)	Y1428H	possibly damaging	Het
Slc11a1	G	T	1: 74,422,830 (GRCm39)	W361L	possibly damaging	Het
Spta1	A	T	1: 174,050,837 (GRCm39)	D1772V	possibly damaging	Het
St8sia6	T	C	2: 13,661,721 (GRCm39)	H370R	probably damaging	Het
Stkld1	A	T	2: 26,842,726 (GRCm39)	D566V	probably damaging	Het
Tango6	T	C	8: 107,415,791 (GRCm39)	V204A	probably benign	Het
Tdrd5	G	A	1: 156,129,293 (GRCm39)	A139V	probably damaging	Het
Tenm2	A	T	11: 36,062,263 (GRCm39)	V534E	probably damaging	Het
Tfip11	A	T	5: 112,479,044 (GRCm39)	Q204L	probably benign	Het
Tlr4	A	T	4: 66,759,430 (GRCm39)	Q741L	probably damaging	Het
Tmem18	A	G	12: 30,638,654 (GRCm39)	M111V	probably benign	Het
Togaram1	A	G	12: 65,042,292 (GRCm39)	N1167S	probably benign	Het
Trappc3	C	T	4: 126,168,945 (GRCm39)	A145V	possibly damaging	Het
Trbj2-3	T	C	6: 41,520,176 (GRCm39)	F7S	probably damaging	Het
Vinac1	A	G	2: 128,880,238 (GRCm39)	S563P		Het
Vmn1r212	T	A	13: 23,067,731 (GRCm39)	M201L	probably benign	Het
Xaf1	C	A	11: 72,194,201 (GRCm39)	C27*	probably null	Het
Zfp524	A	T	7: 5,020,883 (GRCm39)	H137L	probably damaging	Het
Zfyve19	A	T	2: 119,047,118 (GRCm39)	H367L	probably damaging	Het
Zim1	G	A	7: 6,680,872 (GRCm39)	Q264*	probably null	Het

Other mutations in Zeb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:Zeb1	APN	18	5,767,774 (GRCm39)	missense	probably benign	0.00
IGL01139:Zeb1	APN	18	5,705,061 (GRCm39)	missense	possibly damaging	0.69
IGL01444:Zeb1	APN	18	5,767,138 (GRCm39)	missense	probably benign
IGL01444:Zeb1	APN	18	5,767,906 (GRCm39)	missense	probably damaging	1.00
IGL01806:Zeb1	APN	18	5,767,867 (GRCm39)	missense	possibly damaging	0.94
IGL01988:Zeb1	APN	18	5,759,037 (GRCm39)	nonsense	probably null
IGL02059:Zeb1	APN	18	5,766,892 (GRCm39)	missense	probably damaging	1.00
IGL03005:Zeb1	APN	18	5,767,150 (GRCm39)	missense	probably benign	0.03
IGL03153:Zeb1	APN	18	5,770,511 (GRCm39)	missense	probably damaging	1.00
Apes	UTSW	18	5,761,394 (GRCm39)	missense	probably damaging	1.00
cellophane	UTSW	18	5,770,554 (GRCm39)	nonsense	probably null
serpens	UTSW	18	5,772,455 (GRCm39)	missense	probably damaging	1.00
N/A - 293:Zeb1	UTSW	18	5,767,076 (GRCm39)	missense	possibly damaging	0.68
R0184:Zeb1	UTSW	18	5,766,808 (GRCm39)	missense	probably damaging	1.00
R0488:Zeb1	UTSW	18	5,772,455 (GRCm39)	missense	probably damaging	1.00
R0622:Zeb1	UTSW	18	5,759,123 (GRCm39)	nonsense	probably null
R0646:Zeb1	UTSW	18	5,759,027 (GRCm39)	missense	probably damaging	1.00
R0881:Zeb1	UTSW	18	5,767,138 (GRCm39)	missense	probably benign
R1251:Zeb1	UTSW	18	5,705,089 (GRCm39)	missense	probably damaging	1.00
R1257:Zeb1	UTSW	18	5,772,699 (GRCm39)	missense	possibly damaging	0.53
R1501:Zeb1	UTSW	18	5,761,399 (GRCm39)	missense	possibly damaging	0.95
R1547:Zeb1	UTSW	18	5,767,450 (GRCm39)	missense	possibly damaging	0.50
R1797:Zeb1	UTSW	18	5,766,298 (GRCm39)	nonsense	probably null
R1815:Zeb1	UTSW	18	5,767,898 (GRCm39)	missense	probably damaging	1.00
R2090:Zeb1	UTSW	18	5,766,458 (GRCm39)	missense	possibly damaging	0.65
R2129:Zeb1	UTSW	18	5,767,681 (GRCm39)	missense	possibly damaging	0.92
R2875:Zeb1	UTSW	18	5,772,859 (GRCm39)	small insertion	probably benign
R3888:Zeb1	UTSW	18	5,748,743 (GRCm39)	missense	probably damaging	1.00
R3941:Zeb1	UTSW	18	5,767,799 (GRCm39)	missense	probably benign	0.06
R3952:Zeb1	UTSW	18	5,772,716 (GRCm39)	missense	probably benign	0.17
R4271:Zeb1	UTSW	18	5,758,985 (GRCm39)	missense	probably damaging	0.99
R4512:Zeb1	UTSW	18	5,759,007 (GRCm39)	missense	probably damaging	1.00
R4514:Zeb1	UTSW	18	5,759,007 (GRCm39)	missense	probably damaging	1.00
R4677:Zeb1	UTSW	18	5,766,775 (GRCm39)	missense	probably damaging	0.97
R4729:Zeb1	UTSW	18	5,767,286 (GRCm39)	missense	probably damaging	1.00
R5839:Zeb1	UTSW	18	5,767,507 (GRCm39)	missense	probably benign
R5913:Zeb1	UTSW	18	5,766,765 (GRCm39)	missense	possibly damaging	0.49
R6248:Zeb1	UTSW	18	5,766,962 (GRCm39)	missense	probably damaging	1.00
R6354:Zeb1	UTSW	18	5,772,743 (GRCm39)	missense	possibly damaging	0.64
R6429:Zeb1	UTSW	18	5,770,498 (GRCm39)	missense	probably damaging	1.00
R6819:Zeb1	UTSW	18	5,591,917 (GRCm39)	missense	probably damaging	1.00
R7180:Zeb1	UTSW	18	5,767,867 (GRCm39)	missense	possibly damaging	0.94
R7193:Zeb1	UTSW	18	5,772,756 (GRCm39)	missense	probably damaging	0.98
R7397:Zeb1	UTSW	18	5,761,394 (GRCm39)	missense	probably damaging	1.00
R7534:Zeb1	UTSW	18	5,766,611 (GRCm39)	missense	probably damaging	1.00
R7702:Zeb1	UTSW	18	5,766,802 (GRCm39)	missense	probably damaging	1.00
R7703:Zeb1	UTSW	18	5,766,917 (GRCm39)	missense	probably benign
R7934:Zeb1	UTSW	18	5,748,703 (GRCm39)	missense	probably benign	0.00
R8504:Zeb1	UTSW	18	5,705,127 (GRCm39)	missense	possibly damaging	0.94
R8539:Zeb1	UTSW	18	5,748,784 (GRCm39)	missense	probably damaging	0.99
R8716:Zeb1	UTSW	18	5,767,958 (GRCm39)	missense	probably damaging	0.99
R8772:Zeb1	UTSW	18	5,770,382 (GRCm39)	critical splice acceptor site	probably null
R8824:Zeb1	UTSW	18	5,748,680 (GRCm39)	splice site	probably benign
R9082:Zeb1	UTSW	18	5,772,557 (GRCm39)	missense	probably damaging	0.98
R9085:Zeb1	UTSW	18	5,766,716 (GRCm39)	missense	probably damaging	1.00
R9456:Zeb1	UTSW	18	5,766,709 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGTAGGATCAGCCATGAACGG -3'
(R):5'- AACACTGTTCTGGTCAGCAATG -3'

Sequencing Primer
(F):5'- GATCAGCCATGAACGGTTCCAG -3'
(R):5'- TCAGCAATGGCCACGATTGTG -3'

Posted On

2019-06-26