Mutagenetix > Incidental Mutations

Incidental Mutation 'R7061:Zfp574'

548263

Institutional Source

Beutler Lab

Gene Symbol

Zfp574

Ensembl Gene

ENSMUSG00000045252

Gene Name

zinc finger protein 574

Synonyms

A630056B21Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R7061 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25072567-25083492 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25080197 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 215 (C215S)

Ref Sequence

ENSEMBL: ENSMUSP00000136547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053410] [ENSMUST00000179556]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053410
AA Change: C215S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000057817
Gene: ENSMUSG00000045252
AA Change: C215S

Domain	Start	End	E-Value	Type
ZnF_C2H2	16	38	4.98e-1	SMART
ZnF_C2H2	76	98	4.05e-1	SMART
low complexity region	107	118	N/A	INTRINSIC
ZnF_C2H2	126	148	1.99e0	SMART
low complexity region	156	173	N/A	INTRINSIC
ZnF_C2H2	213	235	4.4e-2	SMART
low complexity region	237	254	N/A	INTRINSIC
low complexity region	289	298	N/A	INTRINSIC
ZnF_C2H2	312	334	7.15e-2	SMART
ZnF_C2H2	339	361	1.04e-3	SMART
ZnF_C2H2	367	389	4.12e0	SMART
ZnF_C2H2	395	416	2.12e1	SMART
low complexity region	418	434	N/A	INTRINSIC
ZnF_C2H2	469	492	1.03e-2	SMART
ZnF_C2H2	498	520	2.75e-3	SMART
ZnF_C2H2	526	548	3.39e-3	SMART
ZnF_C2H2	554	576	2.75e-3	SMART
ZnF_C2H2	582	604	2.86e-1	SMART
ZnF_C2H2	610	633	1.25e-1	SMART
ZnF_C2H2	639	659	4.5e1	SMART
low complexity region	660	666	N/A	INTRINSIC
ZnF_C2H2	670	692	2.29e0	SMART
ZnF_C2H2	742	764	2.91e-2	SMART
ZnF_C2H2	770	792	5.59e-4	SMART
ZnF_C2H2	798	820	3.34e-2	SMART
ZnF_C2H2	826	848	4.24e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179556
AA Change: C215S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000136547
Gene: ENSMUSG00000045252
AA Change: C215S

Domain	Start	End	E-Value	Type
ZnF_C2H2	16	38	4.98e-1	SMART
ZnF_C2H2	76	98	4.05e-1	SMART
low complexity region	107	118	N/A	INTRINSIC
ZnF_C2H2	126	148	1.99e0	SMART
low complexity region	156	173	N/A	INTRINSIC
ZnF_C2H2	213	235	4.4e-2	SMART
low complexity region	237	254	N/A	INTRINSIC
low complexity region	289	298	N/A	INTRINSIC
ZnF_C2H2	312	334	7.15e-2	SMART
ZnF_C2H2	339	361	1.04e-3	SMART
ZnF_C2H2	367	389	4.12e0	SMART
ZnF_C2H2	395	416	2.12e1	SMART
low complexity region	418	434	N/A	INTRINSIC
ZnF_C2H2	469	492	1.03e-2	SMART
ZnF_C2H2	498	520	2.75e-3	SMART
ZnF_C2H2	526	548	3.39e-3	SMART
ZnF_C2H2	554	576	2.75e-3	SMART
ZnF_C2H2	582	604	2.86e-1	SMART
ZnF_C2H2	610	633	1.25e-1	SMART
ZnF_C2H2	639	659	4.5e1	SMART
low complexity region	660	666	N/A	INTRINSIC
ZnF_C2H2	670	692	2.29e0	SMART
ZnF_C2H2	742	764	2.91e-2	SMART
ZnF_C2H2	770	792	5.59e-4	SMART
ZnF_C2H2	798	820	3.34e-2	SMART
ZnF_C2H2	826	848	4.24e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,545,065	M660T	probably benign	Het
Aard	G	A	15: 52,040,221	M13I	probably benign	Het
Abcb5	A	C	12: 118,877,774	Y979D	probably damaging	Het
Adgrb1	G	C	15: 74,569,881	V4L	probably benign	Het
Ap3b2	C	T	7: 81,461,009	R1006Q	unknown	Het
Bpifa6	A	T	2: 153,992,316	T343S	probably benign	Het
Celsr3	T	A	9: 108,847,594	C2957*	probably null	Het
Chd6	G	A	2: 161,025,965	Q428*	probably null	Het
Col5a1	C	A	2: 28,025,678	C191*	probably null	Het
Cpox	A	G	16: 58,670,860	I145V	possibly damaging	Het
Csnk2a1	C	T	2: 152,274,171	R268C	probably benign	Het
Dclk2	A	G	3: 86,831,731		probably null	Het
Dennd5a	T	C	7: 109,905,179	E909G	probably benign	Het
Depdc1a	T	A	3: 159,522,852	S414T	possibly damaging	Het
Dock5	A	G	14: 67,770,254	F1502S	probably damaging	Het
Dopey2	G	T	16: 93,762,063	A448S	probably benign	Het
Dsg1c	C	A	18: 20,277,009	N511K	probably benign	Het
Epc2	G	T	2: 49,535,322	R108L	probably damaging	Het
Erp44	T	A	4: 48,219,375	I147F	probably benign	Het
Evc	T	C	5: 37,319,102	T368A	possibly damaging	Het
Fbxo41	G	T	6: 85,475,466	R738S	probably benign	Het
Fli1	T	C	9: 32,424,222	T305A	probably damaging	Het
Gm4969	A	T	7: 19,100,128		probably benign	Het
Gm8897	T	C	5: 11,419,104	V74A	possibly damaging	Het
Grk5	A	G	19: 61,046,092	T93A	probably benign	Het
Grm2	A	T	9: 106,651,225	N153K	probably damaging	Het
Helz	A	G	11: 107,649,177	T1007A	possibly damaging	Het
Helz2	A	G	2: 181,240,514	L162P	probably damaging	Het
Hmgcr	T	A	13: 96,666,148	Q81L	possibly damaging	Het
Hnrnpu	T	C	1: 178,336,126	K218E	unknown	Het
Hydin	A	T	8: 110,603,288	I4885F	possibly damaging	Het
Ibsp	A	G	5: 104,309,902		probably null	Het
Igfals	T	C	17: 24,880,307	L124P	probably damaging	Het
Il24	T	A	1: 130,883,371	H142L	possibly damaging	Het
Kcnh2	A	T	5: 24,331,922	H221Q	probably benign	Het
Man1a	A	G	10: 53,920,235	S454P	probably damaging	Het
Mfsd4b1	C	T	10: 40,003,386	V172M	possibly damaging	Het
Mical2	T	A	7: 112,346,801	I763K	probably benign	Het
Mybpc3	A	G	2: 91,125,404	I594M	possibly damaging	Het
Neo1	T	A	9: 58,990,441	R77S	possibly damaging	Het
Nlrp6	A	G	7: 140,922,867	I265M	probably benign	Het
Olfr1350	A	G	7: 6,570,783	Y264C	probably damaging	Het
Olfr669	T	C	7: 104,938,676	L50P	probably damaging	Het
Olfr877	T	A	9: 37,855,646	V276D	possibly damaging	Het
Pcdhgb5	C	A	18: 37,731,923	P257Q	probably benign	Het
Phactr1	A	G	13: 43,132,981	D586G	probably damaging	Het
Pkn3	T	A	2: 30,083,536		probably null	Het
Prob1	A	T	18: 35,654,500	S234T	probably benign	Het
Rab14	A	T	2: 35,183,417	L131*	probably null	Het
Rab5c	G	A	11: 100,719,963	R40C	probably damaging	Het
Rhebl1	A	G	15: 98,879,283	L103P	probably damaging	Het
Rnf10	G	T	5: 115,257,090	F146L	probably damaging	Het
Rrbp1	T	C	2: 143,989,167	K360R	possibly damaging	Het
Slc6a9	C	T	4: 117,868,064	T575I	probably benign	Het
Smo	A	G	6: 29,760,230	H776R	probably damaging	Het
Tns2	A	G	15: 102,104,479	M1V	probably null	Het
Ttn	C	A	2: 76,894,692		probably benign	Het
Ugt3a1	A	T	15: 9,306,154	M130L	probably benign	Het
Urb2	C	T	8: 124,028,297	H248Y	probably benign	Het
Vit	A	T	17: 78,625,156	N564I	probably damaging	Het
Vmn1r60	A	T	7: 5,544,311	Y263*	probably null	Het
Vmn2r16	A	T	5: 109,363,754	Y609F	probably damaging	Het
Xpo7	T	C	14: 70,671,072	I876V	probably benign	Het
Zfp442	A	G	2: 150,408,017	I655T	probably benign	Het
Zfp608	T	C	18: 54,987,997	T173A	probably benign	Het
Zfp69	A	T	4: 120,931,401	V239D	possibly damaging	Het

Other mutations in Zfp574

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Zfp574	APN	7	25081590	missense	probably benign	0.00
IGL02370:Zfp574	APN	7	25079589	missense	possibly damaging	0.95
IGL02706:Zfp574	APN	7	25081365	missense	probably damaging	0.98
IGL03119:Zfp574	APN	7	25080473	missense	probably benign
glue	UTSW	7	25081090	missense	probably damaging	0.98
BB004:Zfp574	UTSW	7	25080147	missense	probably benign
BB014:Zfp574	UTSW	7	25080147	missense	probably benign
R0866:Zfp574	UTSW	7	25079898	missense	probably damaging	1.00
R2429:Zfp574	UTSW	7	25080057	nonsense	probably null
R3123:Zfp574	UTSW	7	25081601	missense	possibly damaging	0.88
R3124:Zfp574	UTSW	7	25081601	missense	possibly damaging	0.88
R3125:Zfp574	UTSW	7	25081601	missense	possibly damaging	0.88
R4581:Zfp574	UTSW	7	25081313	missense	probably damaging	0.98
R4591:Zfp574	UTSW	7	25079544	start gained	probably benign
R4915:Zfp574	UTSW	7	25080726	missense	probably damaging	0.98
R4953:Zfp574	UTSW	7	25080963	missense	probably damaging	0.97
R5305:Zfp574	UTSW	7	25081090	missense	probably damaging	0.98
R5541:Zfp574	UTSW	7	25081950	missense	probably damaging	0.99
R5934:Zfp574	UTSW	7	25080332	missense	probably benign
R6088:Zfp574	UTSW	7	25080339	missense	probably benign	0.01
R7563:Zfp574	UTSW	7	25081352	missense	possibly damaging	0.94
R7615:Zfp574	UTSW	7	25080576	missense	possibly damaging	0.95
R7927:Zfp574	UTSW	7	25080147	missense	probably benign
R8017:Zfp574	UTSW	7	25080670	nonsense	probably null
R8019:Zfp574	UTSW	7	25080670	nonsense	probably null
R8788:Zfp574	UTSW	7	25080391	missense	unknown
X0026:Zfp574	UTSW	7	25081052	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCGCCAGCCAAGAGATGTG -3'
(R):5'- TAACTGTGATCAGAGGCTGGC -3'

Sequencing Primer
(F):5'- AACAAGGCTCCTGCTCCTG -3'
(R):5'- AGAGGCTGGCAGGGGTTC -3'

Posted On

2019-05-13