Mutagenetix > Incidental Mutations

Incidental Mutation 'R2343:Zfp971'

245892

Institutional Source

Beutler Lab

Gene Symbol

Zfp971

Ensembl Gene

ENSMUSG00000074519

Gene Name

zinc finger protein 971

Synonyms

Etohi1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R2343 (G1)

Quality Score

201

Status

Not validated

Chromosome

Chromosomal Location

178023284-178034022 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 178032994 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 129 (K129E)

Ref Sequence

ENSEMBL: ENSMUSP00000104554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108925] [ENSMUST00000108926]

Predicted Effect

probably benign
Transcript: ENSMUST00000108925

SMART Domains

Protein: ENSMUSP00000104553
Gene: ENSMUSG00000074519

Domain	Start	End	E-Value	Type
KRAB	4	64	1.2e-12	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108926
AA Change: K129E

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104554
Gene: ENSMUSG00000074519
AA Change: K129E

Domain	Start	End	E-Value	Type
KRAB	4	66	1.6e-13	SMART
ZnF_C2H2	78	97	1.38e2	SMART
ZnF_C2H2	103	125	4.38e1	SMART
ZnF_C2H2	131	153	1.92e-2	SMART
ZnF_C2H2	159	181	4.79e-3	SMART
ZnF_C2H2	187	209	2.36e-2	SMART
ZnF_C2H2	215	237	2.36e-2	SMART
ZnF_C2H2	243	265	3.69e-4	SMART
ZnF_C2H2	271	293	4.87e-4	SMART
ZnF_C2H2	299	321	4.4e-2	SMART
ZnF_C2H2	327	349	4.61e-5	SMART
ZnF_C2H2	355	377	4.94e-5	SMART
ZnF_C2H2	383	405	3.21e-4	SMART
ZnF_C2H2	411	433	4.47e-3	SMART
ZnF_C2H2	439	461	5.99e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181241

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcr	T	C	10: 75,145,422	I691T	probably benign	Het
Col20a1	A	G	2: 181,001,331	T865A	possibly damaging	Het
Dmxl1	G	A	18: 49,890,678	R1676H	probably damaging	Het
Dsg2	T	C	18: 20,602,298	V1111A	probably damaging	Het
Eif3g	T	C	9: 20,895,154	Y213C	probably damaging	Het
Fat4	C	T	3: 38,957,105	S2118F	probably damaging	Het
Gpr85	A	G	6: 13,836,696	S70P	probably damaging	Het
Krtap31-1	A	C	11: 99,908,021	T17P	possibly damaging	Het
Lig1	A	G	7: 13,292,195		probably null	Het
Lman2l	A	T	1: 36,428,109	D269E	possibly damaging	Het
Mcc	A	G	18: 44,459,797		probably null	Het
Nav2	T	C	7: 49,598,817	F2302L	possibly damaging	Het
Nsf	C	T	11: 103,930,752	E26K	possibly damaging	Het
Olfr1282	A	G	2: 111,335,700	I126T	probably damaging	Het
Olfr1342	C	A	4: 118,690,187	M88I	probably benign	Het
Sema6c	T	C	3: 95,167,083	F67L	probably damaging	Het
Sez6l	A	T	5: 112,464,731	V448D	probably damaging	Het
Smoc2	A	G	17: 14,344,342	K160R	probably benign	Het
Spata2	A	T	2: 167,483,360	V513E	probably damaging	Het
Susd3	T	A	13: 49,238,859	M107L	probably damaging	Het
Tnni3k	A	G	3: 154,938,829	I564T	probably benign	Het

Other mutations in Zfp971

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Zfp971	APN	2	178023382	critical splice donor site	probably null
R1108:Zfp971	UTSW	2	178033670	missense	probably damaging	1.00
R1759:Zfp971	UTSW	2	178033929	missense	probably damaging	0.99
R2183:Zfp971	UTSW	2	178033740	missense	probably damaging	1.00
R4873:Zfp971	UTSW	2	178033147	missense	probably benign	0.24
R4875:Zfp971	UTSW	2	178033147	missense	probably benign	0.24
R5263:Zfp971	UTSW	2	178033762	missense	probably damaging	1.00
R5396:Zfp971	UTSW	2	178033733	missense	probably damaging	1.00
R6150:Zfp971	UTSW	2	178033454	missense	probably benign	0.26
R6693:Zfp971	UTSW	2	178033431	missense	probably benign	0.01
R6811:Zfp971	UTSW	2	178033881	missense	possibly damaging	0.62
R7427:Zfp971	UTSW	2	178033174	missense	probably damaging	1.00
R7428:Zfp971	UTSW	2	178033174	missense	probably damaging	1.00
R7594:Zfp971	UTSW	2	178034000	missense	possibly damaging	0.47
R7790:Zfp971	UTSW	2	178033499	missense	probably damaging	0.96
R7796:Zfp971	UTSW	2	178031610	missense	probably benign	0.00
R7934:Zfp971	UTSW	2	178033380	missense	probably benign
R7990:Zfp971	UTSW	2	178033568	missense	probably damaging	1.00
R8671:Zfp971	UTSW	2	178033937	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATGAAAGAAGTTCTTCTGCAG -3'
(R):5'- TACTGCAAAGGCTTTACCACATTG -3'

Sequencing Primer
(F):5'- GAAGTTCTTCTGCAGAGCAAC -3'
(R):5'- GCAAAGGCTTTACCACATTGTTTAC -3'

Posted On

2014-10-30