Mutagenetix > Incidental Mutation

Incidental Mutation 'R2231:Zfp92'

240070

Institutional Source

Beutler Lab

Gene Symbol

Zfp92

Ensembl Gene

ENSMUSG00000031374

Gene Name

zinc finger protein 92

Synonyms

MMRRC Submission

040232-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2231 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

72454702-72471991 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 72466358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 450 (L450F)

Ref Sequence

ENSEMBL: ENSMUSP00000033740 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033740] [ENSMUST00000086470]

AlphaFold

Q62396

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033740
AA Change: L450F

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000033740
Gene: ENSMUSG00000031374
AA Change: L450F

Domain	Start	End	E-Value	Type
KRAB	14	74	3.17e-35	SMART
ZnF_C2H2	141	163	5.14e-3	SMART
ZnF_C2H2	169	191	1.84e-4	SMART
ZnF_C2H2	197	219	6.88e-4	SMART
ZnF_C2H2	225	247	7.9e-4	SMART
ZnF_C2H2	253	275	1.3e-4	SMART
ZnF_C2H2	281	303	1.38e-3	SMART
ZnF_C2H2	309	331	2.01e1	SMART
ZnF_C2H2	337	359	9.08e-4	SMART
ZnF_C2H2	410	432	3.11e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000086470

SMART Domains

Protein: ENSMUSP00000083661
Gene: ENSMUSG00000031374

Domain	Start	End	E-Value	Type
KRAB	14	74	3.17e-35	SMART
ZnF_C2H2	141	163	5.14e-3	SMART
ZnF_C2H2	169	191	1.84e-4	SMART
ZnF_C2H2	197	219	6.88e-4	SMART
ZnF_C2H2	225	247	7.9e-4	SMART
ZnF_C2H2	253	275	1.3e-4	SMART
ZnF_C2H2	281	303	1.38e-3	SMART
ZnF_C2H2	309	331	2.01e1	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr1b	G	A	1: 36,739,440 (GRCm39)	R336W	probably damaging	Het
Alkbh6	G	A	7: 30,012,015 (GRCm39)		probably null	Het
Ankrd63	A	G	2: 118,533,846 (GRCm39)		probably benign	Het
Arsa	T	C	15: 89,359,925 (GRCm39)	M1V	probably null	Het
Cblb	T	A	16: 52,014,635 (GRCm39)	S895T	probably benign	Het
Cdk8	A	T	5: 146,168,414 (GRCm39)		probably benign	Het
Coch	G	A	12: 51,649,648 (GRCm39)	V320I	probably benign	Het
Cyp2c68	T	A	19: 39,687,804 (GRCm39)	S398C	probably benign	Het
Cyp2e1	T	C	7: 140,344,827 (GRCm39)	S98P	probably damaging	Het
Dnah5	G	A	15: 28,408,563 (GRCm39)		probably null	Het
Eif2b5	T	C	16: 20,323,520 (GRCm39)	Y424H	probably benign	Het
Enoph1	C	T	5: 100,188,136 (GRCm39)	T20I	probably damaging	Het
Entpd7	T	C	19: 43,710,255 (GRCm39)	V304A	probably benign	Het
Fam227a	T	A	15: 79,499,582 (GRCm39)	Y591F	possibly damaging	Het
Gal3st1	T	C	11: 3,948,282 (GRCm39)	I163T	probably benign	Het
Kif21a	G	A	15: 90,869,565 (GRCm39)	Q429*	probably null	Het
L1cam	T	A	X: 72,904,947 (GRCm39)	N503I	possibly damaging	Het
Myl3	T	C	9: 110,596,979 (GRCm39)	L113P	probably damaging	Het
Nup153	A	G	13: 46,863,103 (GRCm39)		probably null	Het
Oaz3	T	C	3: 94,341,846 (GRCm39)	T130A	probably benign	Het
Or4c3d	A	T	2: 89,882,569 (GRCm39)	F33Y	probably benign	Het
Or5b12b	A	G	19: 12,861,313 (GRCm39)	I23V	probably benign	Het
Pacs2	G	A	12: 113,026,987 (GRCm39)	D605N	probably damaging	Het
Pdk3	G	T	X: 92,857,604 (GRCm39)	N59K	probably damaging	Het
Piezo2	A	T	18: 63,278,143 (GRCm39)	C254S	probably damaging	Het
Plekhd1	T	C	12: 80,768,725 (GRCm39)	F403L	possibly damaging	Het
Pou5f1	A	G	17: 35,820,959 (GRCm39)	T134A	probably benign	Het
Ppp3r1	G	A	11: 17,143,115 (GRCm39)	G68R	probably damaging	Het
Prr5	T	C	15: 84,586,981 (GRCm39)	S244P	probably benign	Het
Sacs	A	G	14: 61,443,378 (GRCm39)		probably null	Het
Sbno1	A	T	5: 124,543,767 (GRCm39)	D257E	probably damaging	Het
Scn10a	T	C	9: 119,462,916 (GRCm39)	E1040G	possibly damaging	Het
Sgce	T	C	6: 4,730,066 (GRCm39)	K53E	probably benign	Het
Slc6a11	A	G	6: 114,171,590 (GRCm39)	T254A	probably damaging	Het
Spag1	A	G	15: 36,191,313 (GRCm39)	Y180C	probably benign	Het
Ssna1	G	T	2: 25,162,019 (GRCm39)	N58K	possibly damaging	Het
Tbx3	C	A	5: 119,815,589 (GRCm39)	N296K	probably damaging	Het
Tcerg1	A	G	18: 42,657,309 (GRCm39)	T264A	unknown	Het
Trdmt1	A	T	2: 13,530,436 (GRCm39)	F82I	probably damaging	Het
Ttn	A	T	2: 76,774,497 (GRCm39)	F2136L	probably damaging	Het
Usb1	T	G	8: 96,070,674 (GRCm39)	L200R	probably damaging	Het
Usp33	C	T	3: 152,079,023 (GRCm39)	A425V	probably benign	Het
Zw10	C	T	9: 48,975,421 (GRCm39)	T282M	possibly damaging	Het

Other mutations in Zfp92

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Zfp92	APN	X	72,463,764 (GRCm39)	splice site	probably benign
R1399:Zfp92	UTSW	X	72,465,736 (GRCm39)	missense	probably damaging	1.00
R1399:Zfp92	UTSW	X	72,466,401 (GRCm39)	missense	probably benign	0.02
R1617:Zfp92	UTSW	X	72,463,466 (GRCm39)	start gained	probably benign
R2232:Zfp92	UTSW	X	72,466,358 (GRCm39)	missense	possibly damaging	0.86
R3413:Zfp92	UTSW	X	72,463,900 (GRCm39)	splice site	probably benign
R6369:Zfp92	UTSW	X	72,465,574 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- AGAAGGTAGCTCCGCAGAAC -3'
(R):5'- CCTTTTCGACCTATCAGGGAAGG -3'

Sequencing Primer
(F):5'- GTAGCTCCGCAGAACCCCAG -3'
(R):5'- GGAGGGCACTCTGTCATTC -3'

Posted On

2014-10-15