Mutagenetix > Incidental Mutation

Incidental Mutation 'R6168:Zfta'

490279

Institutional Source

Beutler Lab

Gene Symbol

Zfta

Ensembl Gene

ENSMUSG00000053080

Gene Name

zinc finger translocation associated

Synonyms

2700081O15Rik

MMRRC Submission

044430-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R6168 (G1)

Quality Score

210.009

Status

Not validated

Chromosome

Chromosomal Location

7394990-7403269 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7400305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 257 (V257A)

Ref Sequence

ENSEMBL: ENSMUSP00000139847 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025667] [ENSMUST00000065304] [ENSMUST00000088169] [ENSMUST00000088171] [ENSMUST00000159348] [ENSMUST00000161907]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025667

SMART Domains

Protein: ENSMUSP00000025667
Gene: ENSMUSG00000024758

Domain	Start	End	E-Value	Type
low complexity region	4	40	N/A	INTRINSIC
Pfam:Reticulon	49	219	8.7e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000065304

SMART Domains

Protein: ENSMUSP00000065810
Gene: ENSMUSG00000024758

Domain	Start	End	E-Value	Type
low complexity region	4	40	N/A	INTRINSIC
low complexity region	42	66	N/A	INTRINSIC
low complexity region	80	91	N/A	INTRINSIC
low complexity region	119	131	N/A	INTRINSIC
low complexity region	516	527	N/A	INTRINSIC
low complexity region	639	650	N/A	INTRINSIC
Pfam:Reticulon	776	940	9.1e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000088169

SMART Domains

Protein: ENSMUSP00000085494
Gene: ENSMUSG00000024758

Domain	Start	End	E-Value	Type
low complexity region	4	40	N/A	INTRINSIC
low complexity region	42	66	N/A	INTRINSIC
Pfam:Reticulon	68	238	1.1e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000088171

SMART Domains

Protein: ENSMUSP00000085496
Gene: ENSMUSG00000024758

Domain	Start	End	E-Value	Type
low complexity region	4	56	N/A	INTRINSIC
low complexity region	61	72	N/A	INTRINSIC
low complexity region	100	112	N/A	INTRINSIC
low complexity region	497	508	N/A	INTRINSIC
low complexity region	620	631	N/A	INTRINSIC
Pfam:Reticulon	757	927	1.8e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159346

SMART Domains

Protein: ENSMUSP00000124442
Gene: ENSMUSG00000053080

Domain	Start	End	E-Value	Type
coiled coil region	14	41	N/A	INTRINSIC
low complexity region	42	67	N/A	INTRINSIC
low complexity region	72	97	N/A	INTRINSIC
low complexity region	178	215	N/A	INTRINSIC
ZnF_C2H2	231	256	2.06e1	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000159348
AA Change: V624A

SMART Domains

Protein: ENSMUSP00000123773
Gene: ENSMUSG00000053080
AA Change: V624A

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
low complexity region	46	58	N/A	INTRINSIC
low complexity region	66	78	N/A	INTRINSIC
low complexity region	99	108	N/A	INTRINSIC
ZnF_C2H2	124	149	3.38e1	SMART
low complexity region	171	201	N/A	INTRINSIC
low complexity region	205	230	N/A	INTRINSIC
low complexity region	235	260	N/A	INTRINSIC
ZnF_C2H2	283	308	1.06e2	SMART
low complexity region	382	419	N/A	INTRINSIC
ZnF_C2H2	435	460	2.06e1	SMART
low complexity region	491	522	N/A	INTRINSIC
low complexity region	540	547	N/A	INTRINSIC
low complexity region	557	572	N/A	INTRINSIC
ZnF_C2H2	600	625	2.54e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160561

SMART Domains

Protein: ENSMUSP00000124645
Gene: ENSMUSG00000053080

Domain	Start	End	E-Value	Type
ZnF_C2H2	10	35	1.06e2	SMART
low complexity region	109	146	N/A	INTRINSIC
ZnF_C2H2	162	187	2.06e1	SMART
low complexity region	218	249	N/A	INTRINSIC
low complexity region	267	274	N/A	INTRINSIC
low complexity region	284	299	N/A	INTRINSIC
ZnF_C2H2	327	352	2.54e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161907
AA Change: V257A

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000139847
Gene: ENSMUSG00000053080
AA Change: V257A

Domain	Start	End	E-Value	Type
low complexity region	12	24	N/A	INTRINSIC
low complexity region	45	54	N/A	INTRINSIC
ZnF_C2H2	70	95	1.4e-1	SMART
coiled coil region	124	151	N/A	INTRINSIC
low complexity region	173	180	N/A	INTRINSIC
low complexity region	190	205	N/A	INTRINSIC
ZnF_C2H2	233	258	1.1e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189779

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183837

Predicted Effect

probably benign
Transcript: ENSMUST00000191580

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	T	2: 68,571,827 (GRCm39)	L568F	possibly damaging	Het
Adam3	A	T	8: 25,171,630 (GRCm39)		probably null	Het
Adamts13	G	T	2: 26,894,898 (GRCm39)	A1069S	probably benign	Het
Adarb1	A	G	10: 77,158,153 (GRCm39)	L98P	probably damaging	Het
Ahnak2	T	C	12: 112,747,750 (GRCm39)	E1035G	probably benign	Het
Alox12b	T	A	11: 69,060,460 (GRCm39)	I672N	probably damaging	Het
Ark2n	A	G	18: 77,761,653 (GRCm39)	S220P	probably damaging	Het
Ash1l	C	T	3: 88,960,080 (GRCm39)	R2271*	probably null	Het
Atf7ip	A	G	6: 136,536,817 (GRCm39)	T17A	probably damaging	Het
Col6a5	A	G	9: 105,752,986 (GRCm39)		probably null	Het
Crcp	A	G	5: 130,066,737 (GRCm39)	N41S	probably damaging	Het
Defb15	A	C	8: 22,420,069 (GRCm39)	N19K	possibly damaging	Het
Dnah7a	T	A	1: 53,450,727 (GRCm39)	D3901V	probably damaging	Het
Dnah7b	A	C	1: 46,329,863 (GRCm39)	T3236P	probably damaging	Het
Dnmbp	A	G	19: 43,838,679 (GRCm39)	S608P	probably damaging	Het
Efcab12	T	C	6: 115,791,577 (GRCm39)	K532E	probably damaging	Het
Fbrsl1	C	T	5: 110,543,922 (GRCm39)	V54M	probably damaging	Het
Gm14496	T	A	2: 181,642,750 (GRCm39)	V807E	probably damaging	Het
Hoxa2	A	G	6: 52,140,461 (GRCm39)	L175P	probably damaging	Het
Igkv4-58	A	C	6: 69,477,281 (GRCm39)	D105E	probably damaging	Het
Igkv8-27	A	T	6: 70,148,880 (GRCm39)	S91R	probably benign	Het
Itgax	T	C	7: 127,732,269 (GRCm39)	V175A	probably damaging	Het
Kcnc2	A	G	10: 112,291,661 (GRCm39)	D283G	probably benign	Het
Lepr	G	A	4: 101,592,789 (GRCm39)	G135R	probably damaging	Het
Mcf2l	A	G	8: 13,051,823 (GRCm39)	S378G	probably benign	Het
Mta1	T	A	12: 113,086,739 (GRCm39)	D145E	probably damaging	Het
Nkd1	T	A	8: 89,311,859 (GRCm39)	N44K	probably damaging	Het
Notch2	A	G	3: 98,052,533 (GRCm39)	K2010E	probably damaging	Het
Nsd3	G	A	8: 26,181,188 (GRCm39)	G930S	probably null	Het
Or2w1	T	G	13: 21,317,399 (GRCm39)	I151M	possibly damaging	Het
Or6c203	A	G	10: 129,010,035 (GRCm39)	F285S	probably damaging	Het
Or8g35	A	G	9: 39,381,953 (GRCm39)	L23P	probably damaging	Het
Or8k3	T	G	2: 86,058,938 (GRCm39)	I126L	probably damaging	Het
Or8u8	T	C	2: 86,012,309 (GRCm39)	I49V	probably damaging	Het
Pde4c	G	A	8: 71,202,688 (GRCm39)	E625K	probably benign	Het
Pdgfb	T	C	15: 79,884,587 (GRCm39)	T151A	probably benign	Het
Pik3r5	T	C	11: 68,383,501 (GRCm39)	V440A	probably benign	Het
Piwil2	T	C	14: 70,632,800 (GRCm39)	T591A	probably benign	Het
Ppm1l	A	G	3: 69,456,740 (GRCm39)	D219G	probably damaging	Het
Psmc6	T	C	14: 45,581,140 (GRCm39)	I312T	probably damaging	Het
Rasl10a	T	C	11: 5,008,442 (GRCm39)	V46A	possibly damaging	Het
Rhov	T	C	2: 119,101,453 (GRCm39)	Y51C	probably damaging	Het
S100a16	C	T	3: 90,449,879 (GRCm39)	Q121*	probably null	Het
Slc5a12	T	C	2: 110,447,089 (GRCm39)	V199A	probably damaging	Het
Slc6a7	A	T	18: 61,134,734 (GRCm39)	M447K	probably benign	Het
Tarbp1	A	G	8: 127,175,144 (GRCm39)	V764A	possibly damaging	Het
Vmn1r197	T	C	13: 22,512,678 (GRCm39)	Y200H	possibly damaging	Het
Vmn2r102	G	A	17: 19,914,402 (GRCm39)	A656T	possibly damaging	Het
Vmn2r49	G	T	7: 9,718,713 (GRCm39)	D450E	probably benign	Het
Wdr7	T	A	18: 63,911,048 (GRCm39)	N813K	probably damaging	Het
Yeats2	T	C	16: 19,998,308 (GRCm39)	S288P	probably benign	Het
Zswim6	G	A	13: 107,924,299 (GRCm39)		noncoding transcript	Het

Other mutations in Zfta

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02376:Zfta	APN	19	7,399,741 (GRCm39)	missense	probably damaging	1.00
IGL02814:Zfta	APN	19	7,397,787 (GRCm39)	missense	possibly damaging	0.94
H8562:Zfta	UTSW	19	7,400,286 (GRCm39)	missense	probably benign	0.01
R0034:Zfta	UTSW	19	7,397,724 (GRCm39)	missense	probably damaging	1.00
R0583:Zfta	UTSW	19	7,397,639 (GRCm39)	missense	probably damaging	1.00
R2351:Zfta	UTSW	19	7,399,609 (GRCm39)	missense	probably damaging	1.00
R4326:Zfta	UTSW	19	7,398,591 (GRCm39)	intron	probably benign
R4329:Zfta	UTSW	19	7,398,591 (GRCm39)	intron	probably benign
R5474:Zfta	UTSW	19	7,397,524 (GRCm39)	missense	probably damaging	1.00
R5735:Zfta	UTSW	19	7,400,161 (GRCm39)	missense	probably benign
R6739:Zfta	UTSW	19	7,398,712 (GRCm39)	nonsense	probably null
R7780:Zfta	UTSW	19	7,399,737 (GRCm39)	missense	probably damaging	0.96
R7855:Zfta	UTSW	19	7,399,621 (GRCm39)	missense	probably damaging	1.00
R8550:Zfta	UTSW	19	7,400,320 (GRCm39)	missense	probably benign	0.00
R9423:Zfta	UTSW	19	7,397,624 (GRCm39)	missense	probably damaging	1.00
R9429:Zfta	UTSW	19	7,399,594 (GRCm39)	missense	probably damaging	1.00
Z1176:Zfta	UTSW	19	7,400,112 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTGTTCTTCTCCAGGCGACG -3'
(R):5'- TCAAGGTCTCTCAGCCCAAG -3'

Sequencing Primer
(F):5'- AGATGACAGCCAGGAGCCC -3'
(R):5'- GGACAGCGCAGGGTGAC -3'

Posted On

2017-10-10