Mutagenetix > Incidental Mutation

Incidental Mutation 'R4545:Atf7'

333735

Institutional Source

Beutler Lab

Gene Symbol

Atf7

Ensembl Gene

ENSMUSG00000099083

Gene Name

activating transcription factor 7

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4545 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102525946-102625464 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102534327 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 449 (V449A)

Ref Sequence

ENSEMBL: ENSMUSP00000139181 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108828] [ENSMUST00000169033] [ENSMUST00000184485] [ENSMUST00000184616] [ENSMUST00000184772] [ENSMUST00000184906]

AlphaFold

Q8R0S1

Predicted Effect

probably benign
Transcript: ENSMUST00000108828

SMART Domains

Protein: ENSMUSP00000104456
Gene: ENSMUSG00000099083

Domain	Start	End	E-Value	Type
ZnF_C2H2	7	31	6.32e-3	SMART
low complexity region	108	130	N/A	INTRINSIC
low complexity region	228	244	N/A	INTRINSIC
low complexity region	300	318	N/A	INTRINSIC
low complexity region	319	326	N/A	INTRINSIC
BRLZ	330	394	3.46e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169033

SMART Domains

Protein: ENSMUSP00000130130
Gene: ENSMUSG00000099083

Domain	Start	End	E-Value	Type
ZnF_C2H2	7	31	6.32e-3	SMART
low complexity region	108	130	N/A	INTRINSIC
low complexity region	228	244	N/A	INTRINSIC
low complexity region	300	318	N/A	INTRINSIC
low complexity region	319	326	N/A	INTRINSIC
BRLZ	330	394	3.46e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184485
AA Change: V449A

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000139308
Gene: ENSMUSG00000099083
AA Change: V449A

Domain	Start	End	E-Value	Type
ZnF_C2H2	7	31	6.32e-3	SMART
low complexity region	108	130	N/A	INTRINSIC
low complexity region	228	244	N/A	INTRINSIC
low complexity region	300	318	N/A	INTRINSIC
low complexity region	319	326	N/A	INTRINSIC
BRLZ	330	394	3.46e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184616
AA Change: V449A

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000139181
Gene: ENSMUSG00000099083
AA Change: V449A

Domain	Start	End	E-Value	Type
ZnF_C2H2	7	31	6.32e-3	SMART
low complexity region	108	130	N/A	INTRINSIC
low complexity region	228	244	N/A	INTRINSIC
low complexity region	300	318	N/A	INTRINSIC
low complexity region	319	326	N/A	INTRINSIC
BRLZ	330	394	3.46e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184772

SMART Domains

Protein: ENSMUSP00000138975
Gene: ENSMUSG00000052414

Domain	Start	End	E-Value	Type
ZnF_C2H2	7	31	6.32e-3	SMART
low complexity region	108	130	N/A	INTRINSIC
low complexity region	228	244	N/A	INTRINSIC
low complexity region	300	318	N/A	INTRINSIC
low complexity region	319	326	N/A	INTRINSIC
BRLZ	330	394	3.46e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184906

SMART Domains

Protein: ENSMUSP00000139243
Gene: ENSMUSG00000099083

Domain	Start	End	E-Value	Type
ZnF_C2H2	7	31	6.32e-3	SMART
low complexity region	108	130	N/A	INTRINSIC
low complexity region	228	244	N/A	INTRINSIC
low complexity region	300	318	N/A	INTRINSIC
low complexity region	319	326	N/A	INTRINSIC
BRLZ	330	394	3.46e-18	SMART

Meta Mutation Damage Score

0.0732

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (41/42)

MGI Phenotype

PHENOTYPE: Mice homozygous for one knock-out allele exhibit increased marble burying, increased startle response, and decreased prepulse inhibition. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	A	C	13: 4,507,844	V201G	probably damaging	Het
Ccr1	G	A	9: 123,964,400	A31V	probably benign	Het
Chrna6	A	T	8: 27,406,683	S389T	probably benign	Het
Clic6	C	T	16: 92,492,157		probably benign	Het
Cmya5	G	A	13: 93,091,918	R2221*	probably null	Het
Coq8b	G	T	7: 27,233,505	C13F	probably benign	Het
Cspg4	T	A	9: 56,888,629	L1216Q	possibly damaging	Het
Decr1	C	A	4: 15,930,979	V118F	probably damaging	Het
Dlec1	A	T	9: 119,128,078	I796F	probably damaging	Het
Dnajc11	T	A	4: 151,979,941	D516E	probably damaging	Het
Dock8	G	A	19: 25,188,358	V1869M	probably damaging	Het
Dst	A	G	1: 34,188,738	D1982G	probably damaging	Het
Gm11808	C	T	4: 3,973,244	R106H	probably benign	Het
Gnptab	G	A	10: 88,414,595	D190N	probably benign	Het
Golga4	A	G	9: 118,556,845	K22E	probably damaging	Het
Hecw2	T	C	1: 53,813,222	*1579W	probably null	Het
Ica1l	A	G	1: 60,013,818		probably null	Het
Ift122	T	A	6: 115,890,588	L433Q	probably damaging	Het
Iqgap1	T	C	7: 80,762,567		probably null	Het
Klra13-ps	T	C	6: 130,291,269		noncoding transcript	Het
Mndal	A	T	1: 173,875,664	Y58*	probably null	Het
Mvb12b	G	C	2: 33,827,700	P172R	possibly damaging	Het
Ncapg	T	C	5: 45,671,212	F102L	probably damaging	Het
Olfr1447	T	A	19: 12,901,268	K171*	probably null	Het
Olfr235	T	C	19: 12,268,824	V198A	possibly damaging	Het
Olfr390	T	C	11: 73,787,166	V76A	probably damaging	Het
Pde8a	A	T	7: 81,328,099	R713S	probably damaging	Het
Rbks	T	C	5: 31,624,568	N296S	probably benign	Het
Sema3c	G	A	5: 17,694,772	V421I	probably benign	Het
Tm9sf1	A	G	14: 55,638,108	V393A	possibly damaging	Het
Tubgcp2	G	A	7: 139,996,071	P893L	possibly damaging	Het
Vnn3	G	A	10: 23,856,326	R158H	probably benign	Het
Zfa-ps	G	T	10: 52,544,936		noncoding transcript	Het
Zfp414	T	C	17: 33,631,648		probably benign	Het
Zfp810	G	A	9: 22,278,745	T289I	probably damaging	Het
Zfp819	G	T	7: 43,617,785	R488L	probably damaging	Het
Zfp942	C	T	17: 21,928,304	G448D	probably benign	Het
Zscan12	A	G	13: 21,366,705	K165E	possibly damaging	Het

Other mutations in Atf7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01914:Atf7	APN	15	102551478	nonsense	probably null
R2183:Atf7	UTSW	15	102546473	missense	possibly damaging	0.93
R2516:Atf7	UTSW	15	102529004	intron	probably benign
R3114:Atf7	UTSW	15	102534423	missense	probably benign	0.10
R3115:Atf7	UTSW	15	102534423	missense	probably benign	0.10
R4544:Atf7	UTSW	15	102534327	missense	probably benign	0.08
R4546:Atf7	UTSW	15	102534327	missense	probably benign	0.08
R5148:Atf7	UTSW	15	102547173	missense	probably benign	0.02
R5568:Atf7	UTSW	15	102563322	missense	probably damaging	0.99
R5688:Atf7	UTSW	15	102551509	missense	probably damaging	1.00
R5805:Atf7	UTSW	15	102557587	splice site	probably null
R6021:Atf7	UTSW	15	102557473	missense	probably benign	0.20
R6259:Atf7	UTSW	15	102547238	missense	probably damaging	1.00
R6347:Atf7	UTSW	15	102546479	missense	possibly damaging	0.91
R6476:Atf7	UTSW	15	102593712	missense	probably benign	0.13
R6794:Atf7	UTSW	15	102557465	missense	probably benign	0.09
R7104:Atf7	UTSW	15	102534235	missense	probably benign	0.40
R7369:Atf7	UTSW	15	102553809	missense	probably damaging	0.98
R8111:Atf7	UTSW	15	102563334	missense	probably damaging	0.96
R8244:Atf7	UTSW	15	102528866	missense	unknown
R8768:Atf7	UTSW	15	102540889	missense	probably benign	0.06
R8785:Atf7	UTSW	15	102546539	missense	probably benign
R8811:Atf7	UTSW	15	102593709	missense	probably damaging	0.99
R9211:Atf7	UTSW	15	102528682	missense	unknown
R9408:Atf7	UTSW	15	102553851	missense	probably damaging	1.00
R9446:Atf7	UTSW	15	102551488	missense	probably damaging	0.96
R9564:Atf7	UTSW	15	102534277	missense	probably benign
X0027:Atf7	UTSW	15	102593670	critical splice donor site	probably null
Z1088:Atf7	UTSW	15	102547182	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCATTCTGCCCAATTCCAAG -3'
(R):5'- TGACAAAGAAGAGTCCTTTCTGTTC -3'

Sequencing Primer
(F):5'- ACAGGAGGGGTTAAGTTGATCTCTC -3'
(R):5'- AAAGAAGAGTCCTTTCTGTTCCTCTG -3'

Posted On

2015-08-18