Mutagenetix > Incidental Mutation

Incidental Mutation 'R9429:Zfta'

712845

Institutional Source

Beutler Lab

Gene Symbol

Zfta

Ensembl Gene

ENSMUSG00000053080

Gene Name

zinc finger translocation associated

Synonyms

2700081O15Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9429 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7394990-7403269 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7399594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 447 (L447P)

Ref Sequence

ENSEMBL: ENSMUSP00000123773 (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

SMART Domains

Protein: ENSMUSP00000124442
Gene: ENSMUSG00000053080
AA Change: L242P

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

probably damaging
Transcript: ENSMUST00000159348
AA Change: L447P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123773
Gene: ENSMUSG00000053080
AA Change: L447P

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

probably benign
Transcript: ENSMUST00000161907

SMART Domains

Protein: ENSMUSP00000139847
Gene: ENSMUSG00000053080

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

probably benign
Transcript: ENSMUST00000191580

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
5930422O12Rik	A	T	8: 33,919,165 (GRCm39)		probably benign	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adam7	G	C	14: 68,771,080 (GRCm39)	H15Q	probably null	Het
Adgrv1	A	T	13: 81,567,468 (GRCm39)	I5235N	probably damaging	Het
Adgrv1	A	C	13: 81,741,165 (GRCm39)	C100G	probably damaging	Het
Aebp1	A	G	11: 5,821,649 (GRCm39)	T1063A	probably benign	Het
Atmin	A	G	8: 117,670,307 (GRCm39)	R48G	probably benign	Het
Atxn10	A	G	15: 85,346,565 (GRCm39)	E441G	probably benign	Het
Catsper1	T	C	19: 5,389,755 (GRCm39)	V505A	possibly damaging	Het
Chd5	T	C	4: 152,447,364 (GRCm39)	V471A	probably damaging	Het
Cma2	A	G	14: 56,210,276 (GRCm39)	I110V	possibly damaging	Het
Cnst	A	C	1: 179,432,566 (GRCm39)	N243T	probably damaging	Het
Col15a1	A	T	4: 47,310,439 (GRCm39)	N1203I	probably damaging	Het
Col6a3	T	A	1: 90,731,585 (GRCm39)	H1556L	probably benign	Het
Crybg3	T	A	16: 59,375,556 (GRCm39)	K185N	probably benign	Het
Dnah1	G	A	14: 30,997,499 (GRCm39)	Q2620*	probably null	Het
Dusp10	A	C	1: 183,801,091 (GRCm39)	D286A	probably benign	Het
Erich6	A	G	3: 58,536,935 (GRCm39)	V252A	possibly damaging	Het
Fhod1	A	G	8: 106,057,139 (GRCm39)	L945P	probably damaging	Het
Foxh1	C	T	15: 76,553,442 (GRCm39)	R120Q	probably null	Het
Frmd4b	T	C	6: 97,279,252 (GRCm39)	D591G	probably damaging	Het
Gbe1	G	A	16: 70,292,203 (GRCm39)	V512I	probably benign	Het
Ghitm	A	G	14: 36,852,655 (GRCm39)	S142P	probably damaging	Het
Gldc	C	T	19: 30,091,172 (GRCm39)	A808T	possibly damaging	Het
Gm14496	C	T	2: 181,637,934 (GRCm39)	T336I	possibly damaging	Het
Ido2	T	C	8: 25,037,194 (GRCm39)	T171A	probably damaging	Het
Kctd19	A	T	8: 106,109,652 (GRCm39)	I930N	probably damaging	Het
Kctd2	T	C	11: 115,318,277 (GRCm39)	Y187H	probably damaging	Het
L3hypdh	T	C	12: 72,124,203 (GRCm39)	T246A	probably damaging	Het
Lama1	A	G	17: 68,118,449 (GRCm39)	M2554V		Het
Laptm5	A	G	4: 130,655,961 (GRCm39)	Y93C		Het
Mroh2b	T	A	15: 4,963,907 (GRCm39)	L833Q	probably damaging	Het
Ms4a12	T	C	19: 11,193,424 (GRCm39)	D187G	probably damaging	Het
Muc4	C	T	16: 32,576,098 (GRCm39)	T1866I	unknown	Het
Myo1a	G	T	10: 127,543,247 (GRCm39)	D168Y	probably damaging	Het
Nek1	C	T	8: 61,559,892 (GRCm39)	S1005L	probably benign	Het
Nrg1	T	A	8: 32,308,592 (GRCm39)	M523L	probably benign	Het
Nt5c2	T	A	19: 46,877,459 (GRCm39)	H494L	probably benign	Het
Oasl2	G	A	5: 115,043,040 (GRCm39)	V271I	probably benign	Het
Or13a1	T	G	6: 116,471,292 (GRCm39)	S241A	probably damaging	Het
Or52s1	C	T	7: 102,861,871 (GRCm39)	A268V	possibly damaging	Het
Or5e1	G	T	7: 108,354,412 (GRCm39)	M116I	probably damaging	Het
Per2	T	C	1: 91,351,489 (GRCm39)	T1006A	probably benign	Het
Phyhd1	C	A	2: 30,156,917 (GRCm39)	F19L	probably benign	Het
Pter	T	A	2: 12,985,112 (GRCm39)	D147E	probably benign	Het
Rps6ka1	A	C	4: 133,598,900 (GRCm39)	L90V	probably damaging	Het
Rrp15	A	T	1: 186,481,368 (GRCm39)	D46E	probably benign	Het
Ryr2	A	G	13: 11,809,459 (GRCm39)	F789L	probably damaging	Het
Sepsecs	T	C	5: 52,801,294 (GRCm39)	K456R	probably benign	Het
Septin11	G	A	5: 93,321,397 (GRCm39)		probably null	Het
Sowahb	T	C	5: 93,191,080 (GRCm39)	I546M	possibly damaging	Het
Spata31	C	A	13: 65,070,336 (GRCm39)	T828K	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Ston1	A	G	17: 88,943,034 (GRCm39)	T147A	probably benign	Het
Tcf3	G	A	10: 80,252,436 (GRCm39)	P350S	probably benign	Het
Tek	A	G	4: 94,715,515 (GRCm39)	D402G	probably benign	Het
Themis3	T	C	17: 66,866,665 (GRCm39)	R192G	probably damaging	Het
Tmc1	T	A	19: 20,793,548 (GRCm39)	I538F	possibly damaging	Het
Trpc3	T	G	3: 36,705,777 (GRCm39)	I473L	probably benign	Het
Ttll2	A	T	17: 7,620,085 (GRCm39)	L4Q	probably damaging	Het
Urb2	T	A	8: 124,750,226 (GRCm39)	Y5*	probably null	Het
Vav3	T	A	3: 109,564,561 (GRCm39)	Y673*	probably null	Het
Vmn1r32	T	A	6: 66,530,237 (GRCm39)	T180S	probably benign	Het
Vmn1r90	A	T	7: 14,295,647 (GRCm39)	N150K	probably damaging	Het
Zbed6	A	C	1: 133,585,453 (GRCm39)	I628R	probably damaging	Het
Zfp1007	A	T	5: 109,824,334 (GRCm39)	L372*	probably null	Het
Zfp750	G	A	11: 121,404,693 (GRCm39)	R61C	probably damaging	Het
Zfp87	A	G	13: 74,520,703 (GRCm39)	I125T	probably damaging	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
R6168:Zfta	UTSW	19	7,400,305 (GRCm39)	missense	probably benign	0.40
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
Z1176:Zfta	UTSW	19	7,400,112 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGGGTAAGGACAACACAGCC -3'
(R):5'- GAGCGAGTGCCATCAATCAG -3'

Sequencing Primer
(F):5'- CCTGACCAGAAAGAGCCGG -3'
(R):5'- TCCTCAGAGGCTGAAGCTGTG -3'

Posted On

2022-05-16