Mutagenetix > Incidental Mutation

Incidental Mutation 'R9203:Zfp24'

698351

Institutional Source

Beutler Lab

Gene Symbol

Zfp24

Ensembl Gene

ENSMUSG00000051469

Gene Name

zinc finger protein 24

Synonyms

3526401F17Rik, ZF-12, KOX17, 5033419P20Rik, Zfp191

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9203 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24142759-24153867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24147326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 329 (H329Y)

Ref Sequence

ENSEMBL: ENSMUSP00000064637 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066497] [ENSMUST00000148525] [ENSMUST00000153337]

AlphaFold

Q91VN1

Predicted Effect

probably damaging
Transcript: ENSMUST00000066497
AA Change: H329Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000064637
Gene: ENSMUSG00000051469
AA Change: H329Y

Domain	Start	End	E-Value	Type
SCAN	48	160	1.75e-73	SMART
ZnF_C2H2	251	273	3.63e-3	SMART
ZnF_C2H2	279	301	5.06e-2	SMART
ZnF_C2H2	307	329	9.08e-4	SMART
ZnF_C2H2	335	357	2.4e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148525

Predicted Effect

probably damaging
Transcript: ENSMUST00000153337
AA Change: H329Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122579
Gene: ENSMUSG00000051469
AA Change: H329Y

Domain	Start	End	E-Value	Type
SCAN	48	160	1.75e-73	SMART
ZnF_C2H2	251	273	3.63e-3	SMART
ZnF_C2H2	279	301	5.06e-2	SMART
ZnF_C2H2	307	329	9.08e-4	SMART
ZnF_C2H2	335	357	2.4e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous null for one mutation have hypomyelination of the central nervous system, tremors, tonic seizures and premature death, whereas mice homozygous null for another mutation are embryonic lethal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc1	T	C	2: 128,465,422 (GRCm39)	H1686R	possibly damaging	Het
Ankrd33b	A	G	15: 31,298,028 (GRCm39)	M243T	probably benign	Het
Appl1	G	T	14: 26,682,970 (GRCm39)	S104*	probably null	Het
Appl2	A	T	10: 83,476,879 (GRCm39)	Y48*	probably null	Het
Cacna1d	T	C	14: 29,773,669 (GRCm39)	N1694S	probably benign	Het
Cc2d2a	G	T	5: 43,891,179 (GRCm39)	D1372Y	probably benign	Het
Cdh4	C	T	2: 179,422,196 (GRCm39)	R107C	probably damaging	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cfap54	T	G	10: 92,880,990 (GRCm39)	M358L	probably benign	Het
Csnka2ip	T	A	16: 64,298,630 (GRCm39)	D578V	unknown	Het
Ctns	T	C	11: 73,082,563 (GRCm39)	I56V	probably benign	Het
Dnah9	A	G	11: 65,746,113 (GRCm39)	I4000T	possibly damaging	Het
Dock2	A	G	11: 34,622,366 (GRCm39)	V91A	possibly damaging	Het
Dpep2	T	C	8: 106,712,885 (GRCm39)	H335R	probably damaging	Het
Eno1	C	T	4: 150,332,539 (GRCm39)	R400*	probably null	Het
Fam114a1	C	A	5: 65,137,300 (GRCm39)	P81H	probably damaging	Het
Gemin6	A	G	17: 80,535,237 (GRCm39)	T66A	probably benign	Het
Grm4	T	C	17: 27,653,980 (GRCm39)	I657V	probably benign	Het
H2ac22	T	C	13: 21,971,057 (GRCm39)	N111S	probably benign	Het
Has3	T	C	8: 107,600,852 (GRCm39)	C105R	probably damaging	Het
Hecw1	T	C	13: 14,491,243 (GRCm39)	E170G	probably benign	Het
Hoxd3	T	C	2: 74,576,744 (GRCm39)	V208A	probably damaging	Het
Hypk	C	T	2: 121,288,163 (GRCm39)	Q75*	probably null	Het
Itpkb	T	A	1: 180,161,004 (GRCm39)	W377R	probably benign	Het
Kbtbd2	A	T	6: 56,755,987 (GRCm39)	V583E	probably damaging	Het
Kdm5d	A	G	Y: 940,981 (GRCm39)	Y1122C	probably damaging	Het
Kif7	A	C	7: 79,354,472 (GRCm39)	L771R	probably damaging	Het
Krt9	C	G	11: 100,079,734 (GRCm39)	G553R	unknown	Het
Lama3	G	A	18: 12,595,869 (GRCm39)	A933T	probably benign	Het
Muc16	A	G	9: 18,462,984 (GRCm39)	I7406T	unknown	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Ntng2	G	T	2: 29,084,998 (GRCm39)	C535*	probably null	Het
Omg	A	G	11: 79,393,051 (GRCm39)	M269T	probably benign	Het
Or1x6	A	T	11: 50,939,161 (GRCm39)	T76S	possibly damaging	Het
Or52e3	A	T	7: 102,869,862 (GRCm39)	*312C	probably null	Het
Parp2	T	C	14: 51,056,850 (GRCm39)	S325P	probably benign	Het
Pclo	C	T	5: 14,728,528 (GRCm39)	T2462M	unknown	Het
Pi4ka	G	T	16: 17,100,165 (GRCm39)	H1912N		Het
Piezo2	T	C	18: 63,290,302 (GRCm39)	I152M	probably benign	Het
Pigv	A	T	4: 133,392,990 (GRCm39)	L60Q	probably damaging	Het
Plcz1	T	A	6: 139,953,481 (GRCm39)	K379*	probably null	Het
Poll	T	C	19: 45,542,091 (GRCm39)	N405S	probably benign	Het
Pou6f2	T	A	13: 18,303,615 (GRCm39)	I467F		Het
Pramel11	T	A	4: 143,623,646 (GRCm39)	N176I	probably benign	Het
Psg26	T	C	7: 18,212,382 (GRCm39)	I324M	probably damaging	Het
Ptprh	T	A	7: 4,574,970 (GRCm39)	I350F	probably damaging	Het
Slpi	C	T	2: 164,196,817 (GRCm39)	V126I	probably benign	Het
Smarca5	C	T	8: 81,431,258 (GRCm39)	W986*	probably null	Het
Sorcs1	A	G	19: 50,250,733 (GRCm39)	I366T	probably damaging	Het
Sv2c	G	T	13: 96,224,745 (GRCm39)	S188*	probably null	Het
Sycp2	T	C	2: 177,996,906 (GRCm39)	K1099R	probably damaging	Het
Tdp2	C	A	13: 25,020,916 (GRCm39)	Y178*	probably null	Het
Trabd2b	A	G	4: 114,460,122 (GRCm39)	E420G	probably damaging	Het
Uggt2	A	T	14: 119,294,975 (GRCm39)	H550Q	probably benign	Het
Vmn2r66	T	C	7: 84,654,950 (GRCm39)	K453R	probably benign	Het
Vsig10l	A	G	7: 43,112,657 (GRCm39)	M1V	probably null	Het
Wdr70	G	A	15: 7,902,684 (GRCm39)	S646L	probably benign	Het
Zfp219	A	T	14: 52,246,405 (GRCm39)	S241T	probably damaging	Het

Other mutations in Zfp24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02750:Zfp24	APN	18	24,150,410 (GRCm39)	missense	possibly damaging	0.48
R1573:Zfp24	UTSW	18	24,150,399 (GRCm39)	missense	possibly damaging	0.70
R1946:Zfp24	UTSW	18	24,147,476 (GRCm39)	frame shift	probably null
R2508:Zfp24	UTSW	18	24,150,927 (GRCm39)	missense	probably damaging	1.00
R2845:Zfp24	UTSW	18	24,150,885 (GRCm39)	missense	probably damaging	0.99
R4119:Zfp24	UTSW	18	24,147,626 (GRCm39)	missense	possibly damaging	0.86
R4471:Zfp24	UTSW	18	24,151,172 (GRCm39)	start gained	probably benign
R5847:Zfp24	UTSW	18	24,151,095 (GRCm39)	missense	possibly damaging	0.93
R6091:Zfp24	UTSW	18	24,147,269 (GRCm39)	missense	probably damaging	1.00
R6659:Zfp24	UTSW	18	24,150,391 (GRCm39)	missense	possibly damaging	0.61
Y4338:Zfp24	UTSW	18	24,150,925 (GRCm39)	missense	probably damaging	1.00
Y4338:Zfp24	UTSW	18	24,150,912 (GRCm39)	missense	possibly damaging	0.55
Y5409:Zfp24	UTSW	18	24,150,912 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- AGTAGATTTTCCCAGTCAACAGGG -3'
(R):5'- TCCCAAGGGTAGGTTTGAAAG -3'

Sequencing Primer
(F):5'- CCAGTCAACAGGGAAAAATAAGTTTC -3'
(R):5'- TCTTCATCAGAGAATCCACAGTGG -3'

Posted On

2022-02-07