Mutagenetix > Incidental Mutation

Incidental Mutation 'R9523:Zfp235'

719011

Institutional Source

Beutler Lab

Gene Symbol

Zfp235

Ensembl Gene

ENSMUSG00000047603

Gene Name

zinc finger protein 235

Synonyms

0610030O19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9523 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23833594-23842666 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23840381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 267 (Y267H)

Ref Sequence

ENSEMBL: ENSMUSP00000050803 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056549] [ENSMUST00000205680]

AlphaFold

Q499D5

Predicted Effect

probably benign
Transcript: ENSMUST00000056549
AA Change: Y267H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000050803
Gene: ENSMUSG00000047603
AA Change: Y267H

Domain	Start	End	E-Value	Type
KRAB	8	71	1.09e-15	SMART
ZnF_C2H2	283	305	1.79e-2	SMART
ZnF_C2H2	311	333	3.16e-3	SMART
ZnF_C2H2	339	361	1.18e-2	SMART
ZnF_C2H2	367	389	6.99e-5	SMART
ZnF_C2H2	395	417	1.33e-1	SMART
ZnF_C2H2	423	445	3.16e-3	SMART
ZnF_C2H2	451	473	2.84e-5	SMART
ZnF_C2H2	479	501	6.32e-3	SMART
ZnF_C2H2	507	529	3.44e-4	SMART
ZnF_C2H2	535	557	2.12e-4	SMART
ZnF_C2H2	563	585	1.38e-3	SMART
ZnF_C2H2	591	613	2.27e-4	SMART
ZnF_C2H2	619	641	5.99e-4	SMART
ZnF_C2H2	647	669	5.9e-3	SMART
ZnF_C2H2	675	697	4.87e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205680

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the zinc finger protein superfamily, members of which are regulatory proteins characterized by nucleic acid-binding zinc finger domains. The encoded protein is a member of the Kruppel family of zinc finger proteins, and contains Kruppel-associated box (KRAB) A and B domains and 15 tandemly arrayed C2H2-type zinc fingers. It is an ortholog of the mouse Zfp93 protein. This gene is located in a cluster of zinc finger genes on 19q13.2. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,687,057 (GRCm39)	T15A	possibly damaging	Het
2010315B03Rik	G	T	9: 124,056,652 (GRCm39)	Q91K		Het
2210408I21Rik	A	G	13: 77,407,988 (GRCm39)	N419S	possibly damaging	Het
Abhd2	A	G	7: 78,998,020 (GRCm39)	E184G	probably damaging	Het
Adgrg3	T	C	8: 95,766,186 (GRCm39)	I339T	probably benign	Het
Adgrv1	C	T	13: 81,567,178 (GRCm39)	A5332T		Het
Akap13	T	C	7: 75,293,193 (GRCm39)	V42A		Het
Akap6	A	G	12: 52,842,672 (GRCm39)	T7A	probably benign	Het
Apob	A	T	12: 8,052,069 (GRCm39)	D1170V	probably damaging	Het
Atad1	A	G	19: 32,684,323 (GRCm39)	I25T	possibly damaging	Het
Atp4b	G	T	8: 13,436,746 (GRCm39)	N255K	probably damaging	Het
Atr	C	T	9: 95,792,610 (GRCm39)	A1644V	possibly damaging	Het
Bpnt1	T	A	1: 185,077,584 (GRCm39)	C100S	probably damaging	Het
C1rl	C	T	6: 124,484,054 (GRCm39)	L203F	probably benign	Het
Clasp2	T	A	9: 113,705,372 (GRCm39)	V576D	probably damaging	Het
Col8a2	A	G	4: 126,205,273 (GRCm39)	T428A	unknown	Het
Copg2	T	A	6: 30,749,505 (GRCm39)		probably null	Het
Cpn2	C	T	16: 30,078,759 (GRCm39)	R314H	possibly damaging	Het
Cpt2	G	A	4: 107,764,354 (GRCm39)	A470V	probably damaging	Het
Cyp2a4	C	T	7: 26,011,688 (GRCm39)	T303I	probably damaging	Het
Ddx42	A	G	11: 106,132,606 (GRCm39)	D543G	probably benign	Het
Dip2a	T	C	10: 76,112,438 (GRCm39)	T1087A	probably damaging	Het
Fam219b	T	C	9: 57,444,919 (GRCm39)	F6L	probably benign	Het
Fsip2	G	T	2: 82,807,972 (GRCm39)	L1430F	probably damaging	Het
Fstl4	A	G	11: 53,075,466 (GRCm39)	I573V	probably benign	Het
Ggnbp2	A	T	11: 84,745,188 (GRCm39)	S182R	probably benign	Het
Glud1	A	G	14: 34,061,931 (GRCm39)	T484A	probably benign	Het
Gm19410	A	G	8: 36,257,608 (GRCm39)	N682S	probably benign	Het
Gnao1	T	C	8: 94,622,861 (GRCm39)	I55T		Het
H2bc15	G	T	13: 21,938,305 (GRCm39)	A5S	unknown	Het
Hcn4	C	T	9: 58,766,809 (GRCm39)	S790L	unknown	Het
Ighv3-4	T	C	12: 114,217,393 (GRCm39)	E66G	probably damaging	Het
Igkv6-23	A	G	6: 70,237,526 (GRCm39)	S72P	probably damaging	Het
Kdm7a	A	C	6: 39,147,767 (GRCm39)	Y213D	probably damaging	Het
Klk15	T	G	7: 43,587,770 (GRCm39)	M66R	possibly damaging	Het
Lce1d	T	A	3: 92,593,363 (GRCm39)	T17S	unknown	Het
Lipt1	T	C	1: 37,914,534 (GRCm39)	Y197H	probably damaging	Het
Lrp1b	A	T	2: 41,660,978 (GRCm39)	D157E		Het
Ltbp1	A	G	17: 75,697,498 (GRCm39)	T1697A	probably benign	Het
Marchf6	T	C	15: 31,498,845 (GRCm39)	T151A	probably benign	Het
Muc5b	G	A	7: 141,396,116 (GRCm39)	R124H	unknown	Het
Myo5b	A	G	18: 74,861,968 (GRCm39)	N1320S	possibly damaging	Het
Myt1l	T	A	12: 29,877,611 (GRCm39)	S421T	unknown	Het
Nav1	A	T	1: 135,379,929 (GRCm39)	M1531K	unknown	Het
Nlrp4e	A	G	7: 23,054,636 (GRCm39)	D930G	probably benign	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or51a6	A	G	7: 102,604,464 (GRCm39)	S115P	probably damaging	Het
Or5b112	G	T	19: 13,319,848 (GRCm39)	C242F	probably damaging	Het
Or5b120	A	T	19: 13,479,712 (GRCm39)	M2L	probably benign	Het
Or5d47	A	T	2: 87,804,945 (GRCm39)	Y21*	probably null	Het
Or6k14	A	T	1: 173,927,608 (GRCm39)	I195F	probably damaging	Het
Or7g30	G	A	9: 19,352,580 (GRCm39)	V124I	possibly damaging	Het
Oxct2b	A	T	4: 123,011,483 (GRCm39)	I468F	probably damaging	Het
Pcdhgb7	T	A	18: 37,886,636 (GRCm39)	L602Q	probably damaging	Het
Prrc2c	A	G	1: 162,525,298 (GRCm39)	V1862A	unknown	Het
Rad54l2	C	T	9: 106,573,151 (GRCm39)	R1110H	probably damaging	Het
Rere	T	A	4: 150,703,636 (GRCm39)	H180Q	probably damaging	Het
Rtl1	C	T	12: 109,561,113 (GRCm39)	R242Q	unknown	Het
Sfxn4	T	C	19: 60,845,807 (GRCm39)	D63G	probably damaging	Het
Strn	C	T	17: 78,967,575 (GRCm39)	A579T	probably benign	Het
Stxbp3	A	G	3: 108,747,756 (GRCm39)	L10P	probably damaging	Het
Swi5	T	C	2: 32,170,739 (GRCm39)	M95V	possibly damaging	Het
Tln2	T	C	9: 67,165,766 (GRCm39)	Y1027C	probably damaging	Het
Tmem65	A	G	15: 58,662,002 (GRCm39)		probably null	Het
Tox4	C	T	14: 52,529,166 (GRCm39)	P376S	probably benign	Het
Tsg101	C	T	7: 46,542,308 (GRCm39)	G215D	possibly damaging	Het
Utp18	A	G	11: 93,768,833 (GRCm39)	S226P	probably damaging	Het
Vipr2	T	C	12: 116,093,788 (GRCm39)	S174P	probably damaging	Het
Vmn2r24	G	T	6: 123,763,950 (GRCm39)	V276F	possibly damaging	Het
Wdr26	T	C	1: 181,013,620 (GRCm39)	R418G	probably benign	Het

Other mutations in Zfp235

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00951:Zfp235	APN	7	23,836,505 (GRCm39)	missense	probably damaging	1.00
IGL02326:Zfp235	APN	7	23,834,727 (GRCm39)	start codon destroyed	probably null	0.98
R0107:Zfp235	UTSW	7	23,836,541 (GRCm39)	missense	probably damaging	1.00
R0271:Zfp235	UTSW	7	23,836,556 (GRCm39)	missense	possibly damaging	0.93
R0513:Zfp235	UTSW	7	23,841,644 (GRCm39)	missense	probably damaging	1.00
R1004:Zfp235	UTSW	7	23,840,169 (GRCm39)	missense	probably damaging	1.00
R1928:Zfp235	UTSW	7	23,840,563 (GRCm39)	nonsense	probably null
R1958:Zfp235	UTSW	7	23,839,771 (GRCm39)	missense	probably damaging	0.98
R2167:Zfp235	UTSW	7	23,840,387 (GRCm39)	missense	possibly damaging	0.80
R2511:Zfp235	UTSW	7	23,841,549 (GRCm39)	missense	probably damaging	1.00
R3013:Zfp235	UTSW	7	23,840,157 (GRCm39)	missense	probably damaging	0.98
R3806:Zfp235	UTSW	7	23,840,046 (GRCm39)	missense	probably benign	0.01
R4613:Zfp235	UTSW	7	23,841,101 (GRCm39)	missense	probably damaging	1.00
R4876:Zfp235	UTSW	7	23,840,384 (GRCm39)	missense	probably benign	0.01
R4977:Zfp235	UTSW	7	23,841,609 (GRCm39)	missense	possibly damaging	0.94
R5085:Zfp235	UTSW	7	23,836,546 (GRCm39)	missense	probably damaging	0.96
R5664:Zfp235	UTSW	7	23,841,576 (GRCm39)	missense	probably damaging	1.00
R6440:Zfp235	UTSW	7	23,840,040 (GRCm39)	missense	probably damaging	0.96
R6650:Zfp235	UTSW	7	23,836,463 (GRCm39)	splice site	probably null
R7694:Zfp235	UTSW	7	23,841,525 (GRCm39)	missense	probably benign	0.37
R8031:Zfp235	UTSW	7	23,841,114 (GRCm39)	missense	probably benign	0.19
R8188:Zfp235	UTSW	7	23,841,296 (GRCm39)	missense	probably damaging	1.00
R8744:Zfp235	UTSW	7	23,839,924 (GRCm39)	missense	possibly damaging	0.56
R9115:Zfp235	UTSW	7	23,841,453 (GRCm39)	missense	probably damaging	1.00
R9244:Zfp235	UTSW	7	23,839,919 (GRCm39)	missense	probably benign	0.00
R9401:Zfp235	UTSW	7	23,841,551 (GRCm39)	missense	probably damaging	1.00
R9404:Zfp235	UTSW	7	23,839,862 (GRCm39)	missense	possibly damaging	0.92
R9563:Zfp235	UTSW	7	23,841,669 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- ACTAAGTCTCAGCTGTTGGC -3'
(R):5'- AGCTCTGGTTAAAGCTCTTCC -3'

Sequencing Primer
(F):5'- GGTGACTGTGATCAAGTCATCTTCC -3'
(R):5'- CCACACTCAGGGCAGGTATAG -3'

Posted On

2022-07-18