Mutagenetix > Incidental Mutations

Incidental Mutation 'R5123:Zfp74'

393399

Institutional Source

Beutler Lab

Gene Symbol

Zfp74

Ensembl Gene

ENSMUSG00000059975

Gene Name

zinc finger protein 74

Synonyms

KRAB8, 2810054M15Rik, Zfp66

MMRRC Submission

042711-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R5123 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29930815-29954089 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29934733 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 517 (C517S)

Ref Sequence

ENSEMBL: ENSMUSP00000103840 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000032797
AA Change: C517S

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

SMART Domains

Protein: ENSMUSP00000032797
Gene: ENSMUSG00000059975
AA Change: C517S

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: C517S

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

SMART Domains

Protein: ENSMUSP00000103840
Gene: ENSMUSG00000059975
AA Change: C517S

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

Meta Mutation Damage Score

0.9429

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,384,460	G542D	possibly damaging	Het
Adh6b	A	G	3: 138,357,689	Y343C	probably damaging	Het
Adsl	T	A	15: 80,952,294		probably null	Het
Apob	T	A	12: 8,007,630		probably null	Het
Atp6ap1l	T	A	13: 90,898,898		probably benign	Het
Cacnb3	A	G	15: 98,639,869	D74G	probably damaging	Het
Clca3a2	T	A	3: 144,806,343	D544V	probably damaging	Het
Col3a1	G	A	1: 45,333,596		probably benign	Het
D7Ertd443e	A	G	7: 134,349,668		probably null	Het
Dscam	T	C	16: 96,772,437	D775G	probably damaging	Het
Eif2b3	T	A	4: 117,022,211	M16K	probably damaging	Het
Eml5	T	C	12: 98,874,512	Y281C	probably damaging	Het
Epha2	T	A	4: 141,308,865	L204Q	possibly damaging	Het
Filip1l	A	C	16: 57,570,662	I538L	possibly damaging	Het
Gcnt2	T	A	13: 40,918,355	V158D	probably damaging	Het
Gnaq	A	G	19: 16,332,085	N162S	probably benign	Het
Haus5	A	T	7: 30,654,226	N575K	probably benign	Het
Hjurp	A	T	1: 88,275,050	Y71N	possibly damaging	Het
Igsf5	A	G	16: 96,373,079	D103G	probably damaging	Het
Myo10	A	G	15: 25,726,483	D297G	possibly damaging	Het
Net1	C	T	13: 3,886,623	R314H	probably damaging	Het
Olfr1273-ps	C	A	2: 90,296,168	R231L	probably benign	Het
Olfr1301	T	A	2: 111,754,552	V101D	probably damaging	Het
Pcsk4	C	A	10: 80,322,145	Q586H	probably null	Het
Pramef6	A	T	4: 143,897,136	M156K	probably benign	Het
Prss1	A	G	6: 41,463,197	D156G	possibly damaging	Het
Rnf133	A	T	6: 23,649,260	N266K	probably damaging	Het
Setd2	G	T	9: 110,617,527	A2482S	possibly damaging	Het
Sgo2a	A	T	1: 58,016,567	S637C	probably damaging	Het
Slc2a5	C	A	4: 150,139,805	S290*	probably null	Het
Spata6	T	G	4: 111,768,795	H120Q	possibly damaging	Het
Stk11	G	A	10: 80,127,941	V194I	probably damaging	Het
Tkt	T	C	14: 30,565,646	V199A	probably benign	Het
Traf3	G	A	12: 111,243,518	V183M	possibly damaging	Het
Trappc11	T	C	8: 47,513,402	Y483C	probably damaging	Het
Trappc9	T	C	15: 72,913,366		probably benign	Het
Trim59	T	C	3: 69,037,734	H91R	probably benign	Het
Ttc21a	A	G	9: 119,952,212	S484G	probably benign	Het
Usp13	A	T	3: 32,915,798	H691L	probably benign	Het
Vmn1r238	T	C	18: 3,123,243	Y57C	probably benign	Het
Vmn2r111	T	A	17: 22,571,143	Q294L	possibly damaging	Het
Vmn2r17	A	G	5: 109,427,908	D215G	possibly damaging	Het
Wdr66	A	G	5: 123,273,633		probably benign	Het
Zfp280b	A	G	10: 76,039,349	D354G	probably benign	Het
Zfp607a	A	G	7: 27,879,098	H531R	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
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

Predicted Primers

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

Sequencing Primer
(F):5'- GGCTTCTCCCCTGTGTGG -3'
(R):5'- GATGTCAAACCTTGTCAGGC -3'

Posted On

2016-06-15