Mutagenetix > Incidental Mutation

Incidental Mutation 'R5828:Zfp703'

450264

Institutional Source

Beutler Lab

Gene Symbol

Zfp703

Ensembl Gene

ENSMUSG00000085795

Gene Name

zinc finger protein 703

Synonyms

Zeppo1, 1110032O19Rik, Csmn1, End2

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.364) question?

Stock #

R5828 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27467364-27471490 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 27469233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 299 (P299L)

Ref Sequence

ENSEMBL: ENSMUSP00000128757 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000127097] [ENSMUST00000154256] [ENSMUST00000209411] [ENSMUST00000209610]

AlphaFold

P0CL69

Predicted Effect

probably benign
Transcript: ENSMUST00000127097

SMART Domains

Protein: ENSMUSP00000132801
Gene: ENSMUSG00000085795

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
low complexity region	32	47	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000154256
AA Change: P299L

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

SMART Domains

Protein: ENSMUSP00000128757
Gene: ENSMUSG00000085795
AA Change: P299L

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
low complexity region	32	47	N/A	INTRINSIC
low complexity region	133	145	N/A	INTRINSIC
low complexity region	164	191	N/A	INTRINSIC
low complexity region	212	231	N/A	INTRINSIC
low complexity region	261	275	N/A	INTRINSIC
Pfam:nlz1	315	369	3.6e-24	PFAM
low complexity region	426	442	N/A	INTRINSIC
ZnF_C2H2	460	488	1.16e1	SMART
low complexity region	497	541	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209411

Predicted Effect

probably benign
Transcript: ENSMUST00000209610

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210723

Meta Mutation Damage Score

0.5368

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,432,144 (GRCm39)	D95G	unknown	Het
Arl10	T	A	13: 54,726,768 (GRCm39)	V182E	probably damaging	Het
Cacna1g	T	G	11: 94,347,980 (GRCm39)	S703R	probably damaging	Het
Ces2a	C	A	8: 105,465,956 (GRCm39)	T363N	probably benign	Het
Col14a1	G	A	15: 55,300,372 (GRCm39)	V967I	unknown	Het
Col22a1	A	T	15: 71,881,340 (GRCm39)	F4I	probably benign	Het
D630045J12Rik	A	G	6: 38,173,302 (GRCm39)	W289R	possibly damaging	Het
Disc1	A	G	8: 125,977,763 (GRCm39)	Q793R	probably damaging	Het
Dnhd1	C	T	7: 105,369,388 (GRCm39)	T4337I	probably benign	Het
Eif2b5	T	A	16: 20,321,536 (GRCm39)	V363D	possibly damaging	Het
Emsy	T	C	7: 98,242,699 (GRCm39)	T1147A	probably benign	Het
Epg5	T	A	18: 78,064,066 (GRCm39)	Y2048N	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Foxred1	A	G	9: 35,121,492 (GRCm39)		probably benign	Het
Gpaa1	T	C	15: 76,216,471 (GRCm39)		probably benign	Het
Gria4	A	C	9: 4,432,832 (GRCm39)	L784V	probably damaging	Het
Homer3	A	G	8: 70,738,956 (GRCm39)	Y105C	probably benign	Het
Hpgd	T	C	8: 56,772,106 (GRCm39)	S193P	probably benign	Het
Irf1	T	A	11: 53,666,762 (GRCm39)	W247R	probably benign	Het
Lpgat1	A	G	1: 191,508,494 (GRCm39)	Q344R	possibly damaging	Het
Luzp1	T	C	4: 136,267,993 (GRCm39)	V72A	probably damaging	Het
Malrd1	G	A	2: 15,531,464 (GRCm39)	V8M	probably benign	Het
Msmo1	T	C	8: 65,172,144 (GRCm39)	H253R	probably damaging	Het
Nom1	A	G	5: 29,640,124 (GRCm39)	K150R	possibly damaging	Het
Onecut1	A	G	9: 74,770,042 (GRCm39)	E155G	probably benign	Het
Or12k7	A	G	2: 36,959,001 (GRCm39)	H228R	probably benign	Het
Or14c46	T	A	7: 85,918,728 (GRCm39)	M90L	probably benign	Het
Or5p59	T	C	7: 107,703,005 (GRCm39)	V163A	possibly damaging	Het
Osbpl10	G	A	9: 114,890,944 (GRCm39)	V111M	probably damaging	Het
Pcdhgb6	T	C	18: 37,877,457 (GRCm39)	S722P	probably benign	Het
Plin4	T	A	17: 56,414,064 (GRCm39)	D187V	probably damaging	Het
Pmf1	T	C	3: 88,303,294 (GRCm39)	E89G	possibly damaging	Het
Polr1d	A	T	5: 147,014,408 (GRCm39)		probably benign	Het
Ppp1r9a	T	C	6: 5,158,200 (GRCm39)	Y1006H	probably damaging	Het
Ppp2r5c	A	G	12: 110,537,134 (GRCm39)	K420E	probably benign	Het
Prdx1	T	C	4: 116,551,006 (GRCm39)	L159P	probably damaging	Het
Psmd6	G	T	14: 14,119,990 (GRCm38)	D39E	probably benign	Het
Rffl	T	C	11: 82,709,244 (GRCm39)	K60E	probably damaging	Het
Rspo2	A	T	15: 42,939,283 (GRCm39)	L169Q	probably damaging	Het
Sbf1	T	A	15: 89,172,837 (GRCm39)	D1892V	probably damaging	Het
Sbno2	G	A	10: 79,902,424 (GRCm39)	S475F	possibly damaging	Het
Serpina3i	T	A	12: 104,231,474 (GRCm39)	V37E	probably benign	Het
Siglecf	G	A	7: 43,001,137 (GRCm39)	C35Y	probably damaging	Het
Slc22a27	G	T	19: 7,903,767 (GRCm39)	D123E	probably damaging	Het
Smim23	T	A	11: 32,770,592 (GRCm39)	K105*	probably null	Het
Soat1	C	T	1: 156,265,318 (GRCm39)	S348N	probably benign	Het
Sp2	C	T	11: 96,851,811 (GRCm39)		probably benign	Het
St14	T	A	9: 31,002,803 (GRCm39)	H700L	probably damaging	Het
St3gal1	T	A	15: 66,985,634 (GRCm39)	K7*	probably null	Het
Tgm1	T	C	14: 55,943,011 (GRCm39)	K610E	probably benign	Het
Tob1	T	A	11: 94,104,583 (GRCm39)	Y40N	probably damaging	Het
Tob1	T	A	11: 94,104,585 (GRCm39)	Y40*	probably null	Het
Trpc4ap	A	G	2: 155,477,130 (GRCm39)		probably benign	Het
Ttc9	C	T	12: 81,678,450 (GRCm39)	P91L	probably benign	Het
Zbtb18	T	C	1: 177,275,446 (GRCm39)	S269P	probably damaging	Het
Zfyve16	A	T	13: 92,650,410 (GRCm39)	V858E	probably damaging	Het

Other mutations in Zfp703

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02441:Zfp703	APN	8	27,470,036 (GRCm39)	missense	probably damaging	0.98
R1524:Zfp703	UTSW	8	27,469,401 (GRCm39)	missense	probably damaging	1.00
R2082:Zfp703	UTSW	8	27,469,016 (GRCm39)	missense	probably benign	0.01
R4049:Zfp703	UTSW	8	27,469,113 (GRCm39)	missense	possibly damaging	0.70
R4570:Zfp703	UTSW	8	27,468,981 (GRCm39)	missense	probably benign	0.10
R4884:Zfp703	UTSW	8	27,468,729 (GRCm39)	missense	probably benign	0.03
R4929:Zfp703	UTSW	8	27,468,879 (GRCm39)	missense	possibly damaging	0.66
R4938:Zfp703	UTSW	8	27,469,801 (GRCm39)	missense	probably damaging	1.00
R4943:Zfp703	UTSW	8	27,469,619 (GRCm39)	missense	probably benign	0.35
R5117:Zfp703	UTSW	8	27,469,233 (GRCm39)	missense	probably damaging	1.00
R5118:Zfp703	UTSW	8	27,469,233 (GRCm39)	missense	probably damaging	1.00
R5297:Zfp703	UTSW	8	27,469,233 (GRCm39)	missense	probably damaging	1.00
R5465:Zfp703	UTSW	8	27,469,233 (GRCm39)	missense	probably damaging	1.00
R5466:Zfp703	UTSW	8	27,469,233 (GRCm39)	missense	probably damaging	1.00
R5467:Zfp703	UTSW	8	27,469,233 (GRCm39)	missense	probably damaging	1.00
R5492:Zfp703	UTSW	8	27,469,233 (GRCm39)	missense	probably damaging	1.00
R5493:Zfp703	UTSW	8	27,469,233 (GRCm39)	missense	probably damaging	1.00
R5494:Zfp703	UTSW	8	27,469,233 (GRCm39)	missense	probably damaging	1.00
R5757:Zfp703	UTSW	8	27,469,233 (GRCm39)	missense	probably damaging	1.00
R5758:Zfp703	UTSW	8	27,469,233 (GRCm39)	missense	probably damaging	1.00
R5802:Zfp703	UTSW	8	27,469,233 (GRCm39)	missense	probably damaging	1.00
R5850:Zfp703	UTSW	8	27,469,233 (GRCm39)	missense	probably damaging	1.00
R5854:Zfp703	UTSW	8	27,469,233 (GRCm39)	missense	probably damaging	1.00
R5856:Zfp703	UTSW	8	27,469,233 (GRCm39)	missense	probably damaging	1.00
R5959:Zfp703	UTSW	8	27,469,233 (GRCm39)	missense	probably damaging	1.00
R6464:Zfp703	UTSW	8	27,469,355 (GRCm39)	missense	probably damaging	1.00
R6867:Zfp703	UTSW	8	27,468,668 (GRCm39)	missense	probably damaging	0.97
R7067:Zfp703	UTSW	8	27,469,044 (GRCm39)	missense	probably damaging	0.96
R7812:Zfp703	UTSW	8	27,469,906 (GRCm39)	missense	probably damaging	1.00
R7880:Zfp703	UTSW	8	27,468,718 (GRCm39)	missense	unknown
R8167:Zfp703	UTSW	8	27,469,782 (GRCm39)	missense	probably damaging	1.00
R8966:Zfp703	UTSW	8	27,468,302 (GRCm39)	missense	possibly damaging	0.83
R9686:Zfp703	UTSW	8	27,469,044 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ACTCAGACTGCAAGAACGG -3'
(R):5'- GTAGGGGTCACGGCATAATC -3'

Sequencing Primer
(F):5'- CTGCAAGAACGGCGGCG -3'
(R):5'- GTCACGGCATAATCCCTGCAG -3'

Posted On

2016-12-20