Mutagenetix > Incidental Mutation

Incidental Mutation 'R8864:Zfp74'

675812

Institutional Source

Beutler Lab

Gene Symbol

Zfp74

Ensembl Gene

ENSMUSG00000059975

Gene Name

zinc finger protein 74

Synonyms

KRAB8, 2810054M15Rik, Zfp66

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R8864 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29930815-29954089 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29934810 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 491 (E491G)

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: E491G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032797
Gene: ENSMUSG00000059975
AA Change: E491G

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: E491G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103840
Gene: ENSMUSG00000059975
AA Change: E491G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	A	18: 58,890,425	C297*	probably null	Het
Adamts3	T	C	5: 89,707,122		probably benign	Het
Best2	T	A	8: 85,009,313	M331L	probably benign	Het
Cachd1	T	A	4: 100,994,829	S1207R	probably damaging	Het
Cacna2d3	G	T	14: 29,333,778	N298K	probably damaging	Het
Cyp2j12	T	C	4: 96,121,513	Y203C	probably damaging	Het
Dnah8	T	C	17: 30,762,642	I3046T	possibly damaging	Het
Eif3b	T	C	5: 140,426,532	V252A	probably benign	Het
Ergic2	A	G	6: 148,181,895	V355A	probably benign	Het
F13a1	C	T	13: 36,877,779	G670D	probably damaging	Het
Gfpt1	T	A	6: 87,054,623	D82E	probably benign	Het
Ggnbp2	G	A	11: 84,840,076	R376C	probably damaging	Het
Gm30302	T	C	13: 49,787,512	N241D	probably benign	Het
Grn	T	C	11: 102,436,385	F191L	unknown	Het
Ighv1-16	C	T	12: 114,665,999	G56D	probably benign	Het
Jrkl	T	C	9: 13,244,321	D445G	probably benign	Het
Loxl3	A	G	6: 83,035,758	T93A	probably damaging	Het
Lrp1b	C	T	2: 41,112,706	A2094T		Het
Lrriq3	T	A	3: 155,187,938	D425E	probably damaging	Het
Majin	T	C	19: 6,211,620	V55A	possibly damaging	Het
Mapk8ip3	A	T	17: 24,899,518	V1192E	probably damaging	Het
Mdga1	T	C	17: 29,931,321	S106G	unknown	Het
Mtch2	C	T	2: 90,854,930	R135*	probably null	Het
Naip1	T	C	13: 100,426,320	N779S	possibly damaging	Het
Nfia	T	C	4: 98,063,145	V403A	possibly damaging	Het
Npas4	C	A	19: 4,988,528	D121Y	probably damaging	Het
Rab3gap1	C	T	1: 127,909,893	R231W	probably damaging	Het
Rangap1	C	G	15: 81,726,069		probably benign	Het
Rgs5	T	A	1: 169,690,421	F75I	probably benign	Het
Rnf19a	T	C	15: 36,265,306	D215G	possibly damaging	Het
Rwdd4a	A	T	8: 47,547,841		probably benign	Het
Setd5	G	A	6: 113,111,508	R199H	probably damaging	Het
Spef2	T	C	15: 9,599,747	Q2004R	unknown	Het
Syne1	T	C	10: 5,420,473	K236E	probably benign	Het
Tas2r104	A	G	6: 131,685,669	F26L	possibly damaging	Het
Tbc1d32	T	A	10: 56,087,559	E954D	probably benign	Het
Tenm2	A	C	11: 36,027,195	S1914A	possibly damaging	Het
Tln2	G	T	9: 67,330,552	Y32*	probably null	Het
Tnc	C	T	4: 63,993,059	R1425H	probably damaging	Het
Unc13b	T	C	4: 43,174,724	C1851R	unknown	Het
Wapl	T	A	14: 34,692,202	D340E	probably benign	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
R6694:Zfp74	UTSW	7	29935134	missense	probably damaging	0.99
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
R8940:Zfp74	UTSW	7	29935347	missense	possibly damaging	0.96
R9748:Zfp74	UTSW	7	29935326	missense	probably damaging	1.00
R9764:Zfp74	UTSW	7	29932420	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- TAAGTTGAGTAGTGAGCACTGG -3'
(R):5'- AAGGCCTTCTCTCAGAGCTC -3'

Sequencing Primer
(F):5'- GGAGAAGGCCTTCCCACACTTC -3'
(R):5'- TACTCGAGAGAAACCTTACGGATGC -3'

Posted On

2021-07-15