Mutagenetix > Incidental Mutations

Incidental Mutation 'R5664:Zfp235'

444260

Institutional Source

Beutler Lab

Gene Symbol

Zfp235

Ensembl Gene

ENSMUSG00000047603

Gene Name

zinc finger protein 235

Synonyms

MMRRC Submission

043307-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5664 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24134169-24143241 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 24142151 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 665 (H665P)

Ref Sequence

ENSEMBL: ENSMUSP00000050803 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000056549
AA Change: H665P

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

SMART Domains

Protein: ENSMUSP00000050803
Gene: ENSMUSG00000047603
AA Change: H665P

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: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	T	A	6: 72,348,994		probably null	Het
1810032O08Rik	A	T	11: 116,672,664	T27S	possibly damaging	Het
4930432K21Rik	A	T	8: 84,166,659	I152F	probably benign	Het
9430015G10Rik	T	A	4: 156,123,559	L112H	probably damaging	Het
Acaca	T	C	11: 84,243,384	L441P	probably damaging	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Arsj	A	T	3: 126,438,657	I351F	probably damaging	Het
Atp6v1b2	A	G	8: 69,107,620	T373A	probably damaging	Het
Atr	C	A	9: 95,905,813	N1486K	probably benign	Het
Avl9	T	C	6: 56,753,839	S583P	probably damaging	Het
Bptf	A	T	11: 107,073,699	D1493E	probably benign	Het
C2cd2l	T	C	9: 44,313,772	E548G	probably damaging	Het
Capn3	G	A	2: 120,477,025	R15Q	probably benign	Het
Ccl3	A	G	11: 83,649,213	F22S	probably benign	Het
Clcf1	T	C	19: 4,222,096	F69S	probably damaging	Het
Col13a1	T	C	10: 61,851,116	E170G	probably damaging	Het
Dhx29	T	A	13: 112,946,879	F489L	probably damaging	Het
Dhx8	A	T	11: 101,740,751	N390I	probably damaging	Het
Dkk1	T	A	19: 30,548,789	Y135F	probably benign	Het
Edil3	G	T	13: 89,319,713	V446F	probably damaging	Het
Epha5	T	A	5: 84,331,866	E93V	probably damaging	Het
Epsti1	C	T	14: 77,963,664	T196I	possibly damaging	Het
Fras1	T	C	5: 96,728,535	S2376P	possibly damaging	Het
Frem2	A	G	3: 53,652,490	V1532A	probably benign	Het
Fsip2	T	A	2: 82,988,095	M4724K	probably benign	Het
Gcat	T	A	15: 79,043,073	L238Q	probably damaging	Het
Gimap6	T	C	6: 48,702,275	K276E	probably benign	Het
Gjb5	T	A	4: 127,355,929	I141F	probably benign	Het
Glt6d1	T	C	2: 25,814,180	I7V	probably benign	Het
Gm37596	A	G	3: 93,692,687	F125S	probably benign	Het
Gm5771	C	T	6: 41,394,671	P17L	probably benign	Het
Gm6169	C	A	13: 97,099,121	L39F	probably damaging	Het
Gtf2h5	G	A	17: 6,084,524	G30R	probably damaging	Het
Herc6	C	A	6: 57,618,684	T449K	probably benign	Het
Hpn	A	T	7: 31,099,262	Y132N	probably damaging	Het
Hpx	A	T	7: 105,595,148	M190K	probably benign	Het
Inf2	A	G	12: 112,611,728	H1151R	unknown	Het
Krt74	A	G	15: 101,760,579		noncoding transcript	Het
Loxl3	G	A	6: 83,049,882	S564N	probably benign	Het
Map7	T	A	10: 20,267,359	V418E	unknown	Het
Mrpl37	T	C	4: 107,064,391	N214D	probably benign	Het
Mthfr	T	C	4: 148,055,466	Y656H	probably damaging	Het
Myo9b	A	G	8: 71,359,882	D2099G	probably benign	Het
Nktr	T	A	9: 121,749,417	C825*	probably null	Het
Nomo1	A	G	7: 46,076,157	E1029G	probably benign	Het
Nup133	T	C	8: 123,906,281	D1037G	probably benign	Het
Olfr1271	A	G	2: 90,265,615	F272L	probably damaging	Het
Olfr153	T	C	2: 87,532,834	L267P	probably benign	Het
Pcdhb14	T	A	18: 37,448,996	V385D	possibly damaging	Het
Pik3c2g	T	C	6: 139,737,007	L38P	probably damaging	Het
Pkd1	A	T	17: 24,569,371	D701V	probably damaging	Het
Pnpla6	A	G	8: 3,537,478	T1070A	probably damaging	Het
Ppl	T	C	16: 5,106,055	D185G	probably benign	Het
Prune1	A	T	3: 95,258,178	L261Q	probably damaging	Het
Qser1	A	T	2: 104,778,196	L1444I	probably damaging	Het
Serpina6	A	C	12: 103,654,467	C8G	probably damaging	Het
Sla2	A	T	2: 156,874,999	D180E	probably benign	Het
Slc4a4	C	T	5: 89,028,244	L25F	probably damaging	Het
Tbx3	A	G	5: 119,678,731	K311R	possibly damaging	Het
Thbs2	A	T	17: 14,689,837	C167S	probably damaging	Het
Trak1	T	A	9: 121,472,307	C710S	possibly damaging	Het
Tsks	G	A	7: 44,953,784	E337K	probably damaging	Het
Vcpip1	A	G	1: 9,746,379	I593T	probably damaging	Het
Vmn2r118	A	G	17: 55,592,765	I713T	possibly damaging	Het
Vmn2r23	C	T	6: 123,713,074	T303M	probably damaging	Het
Vmn2r68	A	T	7: 85,233,770	M258K	probably benign	Het
Vmn2r76	A	G	7: 86,245,994		probably null	Het
Wap	A	G	11: 6,638,609	I5T	possibly damaging	Het

Other mutations in Zfp235

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00951:Zfp235	APN	7	24137080	missense	probably damaging	1.00
IGL02326:Zfp235	APN	7	24135302	start codon destroyed	probably null	0.98
R0107:Zfp235	UTSW	7	24137116	missense	probably damaging	1.00
R0271:Zfp235	UTSW	7	24137131	missense	possibly damaging	0.93
R0513:Zfp235	UTSW	7	24142219	missense	probably damaging	1.00
R1004:Zfp235	UTSW	7	24140744	missense	probably damaging	1.00
R1928:Zfp235	UTSW	7	24141138	nonsense	probably null
R1958:Zfp235	UTSW	7	24140346	missense	probably damaging	0.98
R2167:Zfp235	UTSW	7	24140962	missense	possibly damaging	0.80
R2511:Zfp235	UTSW	7	24142124	missense	probably damaging	1.00
R3013:Zfp235	UTSW	7	24140732	missense	probably damaging	0.98
R3806:Zfp235	UTSW	7	24140621	missense	probably benign	0.01
R4613:Zfp235	UTSW	7	24141676	missense	probably damaging	1.00
R4876:Zfp235	UTSW	7	24140959	missense	probably benign	0.01
R4977:Zfp235	UTSW	7	24142184	missense	possibly damaging	0.94
R5085:Zfp235	UTSW	7	24137121	missense	probably damaging	0.96
R6440:Zfp235	UTSW	7	24140615	missense	probably damaging	0.96
R6650:Zfp235	UTSW	7	24137038	splice site	probably null
R7694:Zfp235	UTSW	7	24142100	missense	probably benign	0.37
R8031:Zfp235	UTSW	7	24141689	missense	probably benign	0.19
R8188:Zfp235	UTSW	7	24141871	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGAAGCGATTCAGTCAGG -3'
(R):5'- TCCTGAAGCCTCTGGGTTTGAG -3'

Sequencing Primer
(F):5'- TGACACATGTGGGAAAGCCTTC -3'
(R):5'- CTCTGGGTTTGAGGAAAGCAGC -3'

Posted On

2016-11-09