Mutagenetix > Incidental Mutation

Incidental Mutation 'R8915:Zfp574'

678879

Institutional Source

Beutler Lab

Gene Symbol

Zfp574

Ensembl Gene

ENSMUSG00000045252

Gene Name

zinc finger protein 574

Synonyms

A630056B21Rik

MMRRC Submission

068703-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8915 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24775099-24782917 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24780769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 597 (L597P)

Ref Sequence

ENSEMBL: ENSMUSP00000057817 (fasta)

Gene Model

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

AlphaFold

Q8BY46

Predicted Effect

probably damaging
Transcript: ENSMUST00000053410
AA Change: L597P

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

SMART Domains

Protein: ENSMUSP00000057817
Gene: ENSMUSG00000045252
AA Change: L597P

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

probably damaging
Transcript: ENSMUST00000179556
AA Change: L597P

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

SMART Domains

Protein: ENSMUSP00000136547
Gene: ENSMUSG00000045252
AA Change: L597P

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: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp4	T	A	7: 43,903,751 (GRCm39)	H217L	possibly damaging	Het
Adgrv1	C	T	13: 81,715,558 (GRCm39)	V877I	probably damaging	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
Asxl3	T	A	18: 22,657,763 (GRCm39)	D1924E	probably benign	Het
Bmp4	T	A	14: 46,621,902 (GRCm39)	E214V	probably damaging	Het
Calhm5	T	C	10: 33,968,415 (GRCm39)	S213G	probably benign	Het
Carmil1	A	G	13: 24,325,709 (GRCm39)	L207P	probably damaging	Het
Cdh24	T	C	14: 54,876,612 (GRCm39)	D71G	probably damaging	Het
Cdhr2	G	T	13: 54,874,184 (GRCm39)	W752L	probably benign	Het
Clec1b	T	C	6: 129,382,212 (GRCm39)	*230Q	probably null	Het
Ctbs	T	C	3: 146,169,724 (GRCm39)	V327A	probably benign	Het
Cyp2c40	A	T	19: 39,795,991 (GRCm39)	I129N	probably benign	Het
Dnajc10	T	A	2: 80,147,801 (GRCm39)	L21H	possibly damaging	Het
Dysf	A	G	6: 84,156,736 (GRCm39)	D1487G	probably benign	Het
Epb42	T	C	2: 120,849,987 (GRCm39)	Q674R	possibly damaging	Het
Foxb2	T	C	19: 16,850,958 (GRCm39)	Y16C	unknown	Het
Fto	T	C	8: 92,136,471 (GRCm39)		probably null	Het
Gcfc2	A	G	6: 81,918,347 (GRCm39)	K346E	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gpam	A	G	19: 55,077,312 (GRCm39)	S160P	probably benign	Het
Has2	C	T	15: 56,531,885 (GRCm39)	V277I	probably damaging	Het
Herc1	T	C	9: 66,318,456 (GRCm39)	Y1243H	probably damaging	Het
Hhat	C	T	1: 192,277,203 (GRCm39)	E419K	probably benign	Het
Hsd17b11	T	C	5: 104,140,802 (GRCm39)		probably null	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Lactbl1	G	T	4: 136,360,243 (GRCm39)	A141S	probably benign	Het
Ncoa5	T	C	2: 164,854,927 (GRCm39)	D65G	possibly damaging	Het
Nfkbie	A	G	17: 45,871,067 (GRCm39)	I240V	probably benign	Het
Nim1k	T	A	13: 120,173,874 (GRCm39)	D340V	probably benign	Het
Oas2	T	C	5: 120,876,449 (GRCm39)	K498R	possibly damaging	Het
Or52e2	C	T	7: 102,804,411 (GRCm39)	C181Y	probably damaging	Het
Pard6g	T	C	18: 80,160,957 (GRCm39)	S357P	probably damaging	Het
Pigk	G	A	3: 152,472,098 (GRCm39)	E384K	probably benign	Het
Ppp4r1	T	C	17: 66,136,376 (GRCm39)	V528A	probably damaging	Het
Rbm34	A	G	8: 127,679,908 (GRCm39)		probably benign	Het
Rnd1	A	G	15: 98,575,181 (GRCm39)	V17A	probably damaging	Het
Ros1	C	T	10: 51,977,805 (GRCm39)		probably benign	Het
Samd14	A	C	11: 94,912,027 (GRCm39)	D168A	probably damaging	Het
Scin	T	C	12: 40,123,432 (GRCm39)	S484G	probably damaging	Het
Scn11a	C	T	9: 119,603,363 (GRCm39)	W1101*	probably null	Het
Scrn3	T	A	2: 73,148,636 (GRCm39)	V69D	probably damaging	Het
Serpina3j	A	G	12: 104,281,309 (GRCm39)	T161A	probably benign	Het
Sh3bp4	C	A	1: 89,080,064 (GRCm39)	A873D	probably damaging	Het
Tmem131	A	T	1: 36,868,658 (GRCm39)	I389N	probably damaging	Het
Tpp2	T	C	1: 44,016,415 (GRCm39)	L690P	probably damaging	Het
Trip13	T	C	13: 74,081,085 (GRCm39)	T94A	probably benign	Het
Vmn1r114	A	T	7: 20,545,171 (GRCm39)	L314*	probably null	Het
Vmn2r44	A	G	7: 8,370,650 (GRCm39)	Y799H	probably damaging	Het
Zfp944	A	T	17: 22,558,507 (GRCm39)	C247S	probably benign	Het

Other mutations in Zfp574

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Zfp574	APN	7	24,781,015 (GRCm39)	missense	probably benign	0.00
IGL02370:Zfp574	APN	7	24,779,014 (GRCm39)	missense	possibly damaging	0.95
IGL02706:Zfp574	APN	7	24,780,790 (GRCm39)	missense	probably damaging	0.98
IGL03119:Zfp574	APN	7	24,779,898 (GRCm39)	missense	probably benign
glue	UTSW	7	24,780,515 (GRCm39)	missense
BB004:Zfp574	UTSW	7	24,779,572 (GRCm39)	missense	probably benign
BB014:Zfp574	UTSW	7	24,779,572 (GRCm39)	missense	probably benign
R0866:Zfp574	UTSW	7	24,779,323 (GRCm39)	missense	probably damaging	1.00
R2429:Zfp574	UTSW	7	24,779,482 (GRCm39)	nonsense	probably null
R3123:Zfp574	UTSW	7	24,781,026 (GRCm39)	missense	possibly damaging	0.88
R3124:Zfp574	UTSW	7	24,781,026 (GRCm39)	missense	possibly damaging	0.88
R3125:Zfp574	UTSW	7	24,781,026 (GRCm39)	missense	possibly damaging	0.88
R4581:Zfp574	UTSW	7	24,780,738 (GRCm39)	missense	probably damaging	0.98
R4591:Zfp574	UTSW	7	24,778,969 (GRCm39)	start gained	probably benign
R4915:Zfp574	UTSW	7	24,780,151 (GRCm39)	missense	probably damaging	0.98
R4953:Zfp574	UTSW	7	24,780,388 (GRCm39)	missense	probably damaging	0.97
R5305:Zfp574	UTSW	7	24,780,515 (GRCm39)	missense
R5541:Zfp574	UTSW	7	24,781,375 (GRCm39)	missense	probably damaging	0.99
R5934:Zfp574	UTSW	7	24,779,757 (GRCm39)	missense	probably benign
R6088:Zfp574	UTSW	7	24,779,764 (GRCm39)	missense	probably benign	0.01
R7061:Zfp574	UTSW	7	24,779,622 (GRCm39)	missense	possibly damaging	0.95
R7563:Zfp574	UTSW	7	24,780,777 (GRCm39)	missense	possibly damaging	0.94
R7615:Zfp574	UTSW	7	24,780,001 (GRCm39)	missense	possibly damaging	0.95
R7927:Zfp574	UTSW	7	24,779,572 (GRCm39)	missense	probably benign
R8017:Zfp574	UTSW	7	24,780,095 (GRCm39)	nonsense	probably null
R8019:Zfp574	UTSW	7	24,780,095 (GRCm39)	nonsense	probably null
R8788:Zfp574	UTSW	7	24,779,816 (GRCm39)	missense	unknown
R8871:Zfp574	UTSW	7	24,780,562 (GRCm39)	missense	probably damaging	0.99
R9484:Zfp574	UTSW	7	24,781,404 (GRCm39)	missense	possibly damaging	0.77
R9533:Zfp574	UTSW	7	24,780,379 (GRCm39)	missense	probably damaging	1.00
R9606:Zfp574	UTSW	7	24,780,640 (GRCm39)	missense	probably damaging	1.00
R9623:Zfp574	UTSW	7	24,780,515 (GRCm39)	missense
X0026:Zfp574	UTSW	7	24,780,477 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGACTGCTCTAAGCCTTTCAAC -3'
(R):5'- AGAGCCCACTTTCTTGCCAC -3'

Sequencing Primer
(F):5'- GCTCTAAGCCTTTCAACTCACCAG -3'
(R):5'- ACACTCAAAGCGCCGTGG -3'

Posted On

2021-08-02