Mutagenetix > Incidental Mutation

Incidental Mutation 'R2183:Zfp971'

237276

Institutional Source

Beutler Lab

Gene Symbol

Zfp971

Ensembl Gene

ENSMUSG00000074519

Gene Name

zinc finger protein 971

Synonyms

Etohi1

MMRRC Submission

040185-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R2183 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

177665077-177675815 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 177675533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 377 (H377Q)

Ref Sequence

ENSEMBL: ENSMUSP00000104554 (fasta)

Gene Model

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

AlphaFold

A2BFG8

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

probably damaging
Transcript: ENSMUST00000108926
AA Change: H377Q

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

SMART Domains

Protein: ENSMUSP00000104554
Gene: ENSMUSG00000074519
AA Change: H377Q

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atf7	T	C	15: 102,454,908 (GRCm39)	T287A	possibly damaging	Het
Atg9b	C	T	5: 24,595,491 (GRCm39)	A263T	probably benign	Het
Cc2d1a	A	T	8: 84,867,028 (GRCm39)	H371Q	probably damaging	Het
Ccdc39	T	C	3: 33,875,581 (GRCm39)	N537S	possibly damaging	Het
Cdc6	A	T	11: 98,799,524 (GRCm39)	K17*	probably null	Het
Cemip2	G	A	19: 21,801,157 (GRCm39)	R758Q	possibly damaging	Het
Cenpk	T	C	13: 104,370,671 (GRCm39)	M64T	probably damaging	Het
Dhx57	T	A	17: 80,582,760 (GRCm39)	T282S	probably benign	Het
Frem1	G	A	4: 82,909,732 (GRCm39)	T757I	probably benign	Het
Gcsh	A	T	8: 117,715,885 (GRCm39)	V66E	probably damaging	Het
Gdpd1	T	C	11: 86,926,102 (GRCm39)	N281S	probably damaging	Het
Hs1bp3	T	C	12: 8,371,610 (GRCm39)	V97A	possibly damaging	Het
Ipo11	T	C	13: 107,061,595 (GRCm39)	T22A	probably benign	Het
Irag1	A	T	7: 110,498,189 (GRCm39)	L402Q	probably damaging	Het
Lama1	A	G	17: 68,098,004 (GRCm39)	N1795D	probably damaging	Het
Larp4	T	C	15: 99,909,778 (GRCm39)	V627A	probably benign	Het
Lrp8	T	C	4: 107,660,462 (GRCm39)	C41R	probably damaging	Het
Mroh2b	T	A	15: 4,947,707 (GRCm39)		probably null	Het
Nebl	T	C	2: 17,409,027 (GRCm39)	D357G	probably damaging	Het
Nrg2	T	C	18: 36,329,804 (GRCm39)	K137R	probably benign	Het
Or14c43	T	A	7: 86,115,594 (GRCm39)	V325E	probably benign	Het
Or1j14	C	T	2: 36,417,723 (GRCm39)	Q100*	probably null	Het
Or5t7	A	T	2: 86,507,380 (GRCm39)	M99K	probably benign	Het
Phc1	C	A	6: 122,300,284 (GRCm39)	V487L	probably damaging	Het
Piezo2	A	G	18: 63,239,345 (GRCm39)	V745A	probably damaging	Het
Proca1	A	T	11: 78,094,975 (GRCm39)	H83L	possibly damaging	Het
Prpf4	G	A	4: 62,330,046 (GRCm39)	V107I	probably damaging	Het
Ptprz1	G	A	6: 23,002,284 (GRCm39)	R1458Q	probably benign	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rbsn	C	A	6: 92,166,618 (GRCm39)	L675F	probably benign	Het
Recql5	T	C	11: 115,787,613 (GRCm39)	S514G	probably benign	Het
Scai	G	A	2: 38,970,138 (GRCm39)	T542I	probably benign	Het
Sftpa1	G	T	14: 40,854,823 (GRCm39)	D73Y	probably damaging	Het
Sgms2	A	C	3: 131,129,934 (GRCm39)		probably null	Het
Spart	A	G	3: 55,024,554 (GRCm39)	I50V	probably benign	Het
Spata7	A	T	12: 98,603,871 (GRCm39)	K47N	probably damaging	Het
Tbx18	T	A	9: 87,587,789 (GRCm39)	T443S	probably damaging	Het
Tmem130	T	C	5: 144,692,242 (GRCm39)	D54G	possibly damaging	Het
Tnip2	TCTCCT	TCT	5: 34,656,957 (GRCm39)		probably benign	Het
Trp53rkb	G	T	2: 166,635,877 (GRCm39)	V73L	possibly damaging	Het
Wwc2	A	T	8: 48,295,961 (GRCm39)	L1103H	unknown	Het
Yes1	T	A	5: 32,802,370 (GRCm39)	V95E	probably damaging	Het
Zzef1	C	T	11: 72,777,544 (GRCm39)	R1792*	probably null	Het

Other mutations in Zfp971

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Zfp971	APN	2	177,665,175 (GRCm39)	critical splice donor site	probably null
R1108:Zfp971	UTSW	2	177,675,463 (GRCm39)	missense	probably damaging	1.00
R1759:Zfp971	UTSW	2	177,675,722 (GRCm39)	missense	probably damaging	0.99
R2343:Zfp971	UTSW	2	177,674,787 (GRCm39)	missense	possibly damaging	0.84
R4873:Zfp971	UTSW	2	177,674,940 (GRCm39)	missense	probably benign	0.24
R4875:Zfp971	UTSW	2	177,674,940 (GRCm39)	missense	probably benign	0.24
R5263:Zfp971	UTSW	2	177,675,555 (GRCm39)	missense	probably damaging	1.00
R5396:Zfp971	UTSW	2	177,675,526 (GRCm39)	missense	probably damaging	1.00
R6150:Zfp971	UTSW	2	177,675,247 (GRCm39)	missense	probably benign	0.26
R6693:Zfp971	UTSW	2	177,675,224 (GRCm39)	missense	probably benign	0.01
R6811:Zfp971	UTSW	2	177,675,674 (GRCm39)	missense	possibly damaging	0.62
R7427:Zfp971	UTSW	2	177,674,967 (GRCm39)	missense	probably damaging	1.00
R7428:Zfp971	UTSW	2	177,674,967 (GRCm39)	missense	probably damaging	1.00
R7594:Zfp971	UTSW	2	177,675,793 (GRCm39)	missense	possibly damaging	0.47
R7790:Zfp971	UTSW	2	177,675,292 (GRCm39)	missense	probably damaging	0.96
R7796:Zfp971	UTSW	2	177,673,403 (GRCm39)	missense	probably benign	0.00
R7934:Zfp971	UTSW	2	177,675,173 (GRCm39)	missense	probably benign
R7990:Zfp971	UTSW	2	177,675,361 (GRCm39)	missense	probably damaging	1.00
R8671:Zfp971	UTSW	2	177,675,730 (GRCm39)	missense	probably damaging	1.00
R9181:Zfp971	UTSW	2	177,674,736 (GRCm39)	missense	probably damaging	1.00
R9575:Zfp971	UTSW	2	177,675,303 (GRCm39)	missense	probably damaging	0.99
R9629:Zfp971	UTSW	2	177,675,417 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGCTGTCATCTCCGAAGACA -3'
(R):5'- GTCACTCCTTACTGCAAAGGC -3'

Sequencing Primer
(F):5'- GCTGTCATCTCCGAAGACATAATCG -3'
(R):5'- CCTGCAAAGGGTTTACCATACTAG -3'

Posted On

2014-10-02