Mutagenetix > Incidental Mutations

Incidental Mutation 'R6694:Zfp74'

528495

Institutional Source

Beutler Lab

Gene Symbol

Zfp74

Ensembl Gene

ENSMUSG00000059975

Gene Name

zinc finger protein 74

Synonyms

KRAB8, 2810054M15Rik, Zfp66

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R6694 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29930815-29954089 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 29935134 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 383 (A383V)

Ref Sequence

ENSEMBL: ENSMUSP00000103840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032797] [ENSMUST00000108205] [ENSMUST00000108211] [ENSMUST00000108212]

AlphaFold

Q80W31

Predicted Effect

probably damaging
Transcript: ENSMUST00000032797
AA Change: A383V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032797
Gene: ENSMUSG00000059975
AA Change: A383V

Domain	Start	End	E-Value	Type
KRAB	8	68	5.02e-38	SMART
ZnF_C2H2	179	201	1.84e-4	SMART
ZnF_C2H2	207	229	2.36e-2	SMART
ZnF_C2H2	235	257	1.5e-4	SMART
ZnF_C2H2	263	285	2.79e-4	SMART
ZnF_C2H2	291	313	3.49e-5	SMART
ZnF_C2H2	319	341	6.42e-4	SMART
ZnF_C2H2	347	369	5.59e-4	SMART
ZnF_C2H2	375	397	5.21e-4	SMART
ZnF_C2H2	403	425	3.63e-3	SMART
ZnF_C2H2	431	453	1.82e-3	SMART
ZnF_C2H2	459	481	1.58e-3	SMART
ZnF_C2H2	487	509	2.12e-4	SMART
ZnF_C2H2	515	537	1.82e-3	SMART
ZnF_C2H2	543	565	2.24e-3	SMART
ZnF_C2H2	571	593	8.02e-5	SMART
ZnF_C2H2	599	621	1.04e-3	SMART
ZnF_C2H2	627	649	1.04e-3	SMART
ZnF_C2H2	655	677	9.88e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108205
AA Change: A383V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103840
Gene: ENSMUSG00000059975
AA Change: A383V

Domain	Start	End	E-Value	Type
KRAB	8	68	5.02e-38	SMART
ZnF_C2H2	179	201	1.84e-4	SMART
ZnF_C2H2	207	229	2.36e-2	SMART
ZnF_C2H2	235	257	1.5e-4	SMART
ZnF_C2H2	263	285	2.79e-4	SMART
ZnF_C2H2	291	313	3.49e-5	SMART
ZnF_C2H2	319	341	6.42e-4	SMART
ZnF_C2H2	347	369	5.59e-4	SMART
ZnF_C2H2	375	397	5.21e-4	SMART
ZnF_C2H2	403	425	3.63e-3	SMART
ZnF_C2H2	431	453	1.82e-3	SMART
ZnF_C2H2	459	481	1.58e-3	SMART
ZnF_C2H2	487	509	2.12e-4	SMART
ZnF_C2H2	515	537	1.82e-3	SMART
ZnF_C2H2	543	565	2.24e-3	SMART
ZnF_C2H2	571	593	8.02e-5	SMART
ZnF_C2H2	599	621	1.04e-3	SMART
ZnF_C2H2	627	649	1.04e-3	SMART
ZnF_C2H2	655	677	9.88e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108211

SMART Domains

Protein: ENSMUSP00000103846
Gene: ENSMUSG00000059975

Domain	Start	End	E-Value	Type
KRAB	8	68	5.02e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108212

SMART Domains

Protein: ENSMUSP00000103847
Gene: ENSMUSG00000059975

Domain	Start	End	E-Value	Type
KRAB	8	68	5.02e-38	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149793

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208490

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	G	A	6: 48,930,546	S160N	probably benign	Het
4930444G20Rik	T	C	10: 22,067,721	E120G	probably damaging	Het
Arap3	A	C	18: 37,991,537		probably null	Het
Arhgap10	A	G	8: 77,411,063	F300L	probably benign	Het
Ccdc116	T	C	16: 17,142,791	E54G	probably benign	Het
Cd53	T	A	3: 106,767,386	I122F	probably benign	Het
Ctnnd1	T	C	2: 84,624,505		probably benign	Het
Ddx60	A	G	8: 62,037,070	D1691G	probably damaging	Het
Dnah11	T	C	12: 118,186,882		probably null	Het
Exoc1	T	A	5: 76,549,552	M392K	probably damaging	Het
Exoc3l	G	C	8: 105,290,490	R622G	probably benign	Het
Grid2	C	G	6: 63,931,047	R224G	possibly damaging	Het
Kif20a	A	G	18: 34,625,526	E16G	probably damaging	Het
Kit	T	C	5: 75,640,757	V568A	possibly damaging	Het
Lhx4	T	C	1: 155,704,710	S257G	probably benign	Het
Med18	C	T	4: 132,459,982	V114I	probably benign	Het
Mrps30	C	T	13: 118,386,961	V92M	possibly damaging	Het
Mtrr	C	T	13: 68,564,333	V645I	probably benign	Het
Nuak2	T	G	1: 132,332,310	S609A	probably damaging	Het
Olfr1393	A	T	11: 49,280,552	I135F	probably benign	Het
Plk4	T	C	3: 40,801,828	V58A	probably damaging	Het
Polq	T	A	16: 37,015,173	F145L	probably null	Het
Rab11fip2	T	C	19: 59,937,275	K170R	probably damaging	Het
Rapgef3	A	G	15: 97,759,984	V246A	probably benign	Het
Rc3h2	A	G	2: 37,400,543	S316P	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Homo
Rsf1	GCGGCGGC	GCGGCGGCGACGGCGGC	7: 97,579,928		probably benign	Het
Sae1	G	T	7: 16,368,536	A171E	probably damaging	Het
Setd5	T	A	6: 113,143,708	N959K	probably benign	Het
Siae	T	A	9: 37,616,823	Y31N	probably damaging	Het
Sit1	C	T	4: 43,483,311	G51D	probably damaging	Het
Slc5a11	A	G	7: 123,267,789	I436V	possibly damaging	Het
Tcfl5	A	G	2: 180,622,654	S470P	probably damaging	Het
Timd2	A	T	11: 46,670,952	C288*	probably null	Het
Timeless	T	G	10: 128,239,999		probably null	Het
Ubxn8	G	T	8: 33,621,544	Q274K	possibly damaging	Het
Usp29	A	G	7: 6,962,277	E373G	probably benign	Het
Zap70	A	G	1: 36,782,517	Y597C	probably damaging	Het
Zfp523	T	G	17: 28,200,472	Y195D	probably damaging	Het
Zfp93	A	T	7: 24,275,913	Q441L	probably damaging	Het
Zfp976	A	T	7: 42,614,186	Y76N	probably damaging	Het

Other mutations in Zfp74

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0355:Zfp74	UTSW	7	29954041	start gained	probably benign
R0387:Zfp74	UTSW	7	29934754	missense	probably benign	0.05
R0948:Zfp74	UTSW	7	29935937	critical splice donor site	probably null
R1757:Zfp74	UTSW	7	29935061	missense	probably benign	0.01
R1813:Zfp74	UTSW	7	29935144	missense	probably damaging	1.00
R1893:Zfp74	UTSW	7	29936045	critical splice acceptor site	probably null
R1896:Zfp74	UTSW	7	29935144	missense	probably damaging	1.00
R1958:Zfp74	UTSW	7	29935711	missense	probably benign	0.08
R2092:Zfp74	UTSW	7	29953924	start gained	probably benign
R2111:Zfp74	UTSW	7	29935018	nonsense	probably null
R4894:Zfp74	UTSW	7	29936045	critical splice acceptor site	probably benign
R5121:Zfp74	UTSW	7	29932507	splice site	probably null
R5123:Zfp74	UTSW	7	29934733	missense	probably damaging	1.00
R5129:Zfp74	UTSW	7	29932455	missense	probably benign	0.00
R5213:Zfp74	UTSW	7	29935243	missense	probably damaging	1.00
R5460:Zfp74	UTSW	7	29935891	missense	probably benign	0.04
R5519:Zfp74	UTSW	7	29935134	missense	probably damaging	0.99
R5589:Zfp74	UTSW	7	29934565	missense	probably damaging	1.00
R6287:Zfp74	UTSW	7	29935776	missense	probably benign
R6330:Zfp74	UTSW	7	29937987	missense	probably damaging	1.00
R6370:Zfp74	UTSW	7	29932410	missense	probably damaging	0.96
R6407:Zfp74	UTSW	7	29935623	missense	probably damaging	1.00
R6791:Zfp74	UTSW	7	29934435	missense	probably benign	0.02
R7144:Zfp74	UTSW	7	29935165	missense	probably damaging	0.98
R7662:Zfp74	UTSW	7	29953853	critical splice donor site	probably null
R7667:Zfp74	UTSW	7	29935183	missense	probably damaging	1.00
R7898:Zfp74	UTSW	7	29935955	nonsense	probably null
R7940:Zfp74	UTSW	7	29932442	missense	probably benign	0.07
R8676:Zfp74	UTSW	7	29934654	missense	probably damaging	1.00
R8864:Zfp74	UTSW	7	29934810	missense	probably damaging	1.00
R8940:Zfp74	UTSW	7	29935347	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCTCCCGTATGAACTTTCTGATGG -3'
(R):5'- TCACACTGGGGAGAAGCCTTA -3'

Sequencing Primer
(F):5'- GCCTGACAAGGTTTGACATC -3'
(R):5'- GAGAAGCCTTACGCGTGCAAC -3'

Posted On

2018-07-24