Mutagenetix > Incidental Mutation

Incidental Mutation 'R5856:Zfp703'

454911

Institutional Source

Beutler Lab

Gene Symbol

Zfp703

Ensembl Gene

ENSMUSG00000085795

Gene Name

zinc finger protein 703

Synonyms

Zeppo1, End2, 1110032O19Rik, Csmn1

MMRRC Submission

043230-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.363) question?

Stock #

R5856 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26977325-26981461 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26979205 bp (GRCm38)

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: 99.4%
10x: 97.0%
20x: 90.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,868,359	I7M	unknown	Het
Adgrf5	A	G	17: 43,446,120	T497A	probably benign	Het
Ano5	T	C	7: 51,585,326	I669T	probably benign	Het
Arhgap11a	A	T	2: 113,833,771	N722K	possibly damaging	Het
Atm	A	T	9: 53,495,955	I1161K	possibly damaging	Het
Atp13a4	T	C	16: 29,433,987	T714A	possibly damaging	Het
BC051665	T	A	13: 60,784,500	M92L	probably benign	Het
Car3	G	A	3: 14,871,641	V255M	probably damaging	Het
Cnot11	C	A	1: 39,537,453	F179L	probably benign	Het
Dctn1	A	G	6: 83,197,865	Y1013C	probably damaging	Het
Gm19965	A	G	1: 116,821,849	D420G	probably benign	Het
Gm5444	A	G	13: 4,771,684		noncoding transcript	Het
Hydin	A	T	8: 110,541,842	D2946V	probably damaging	Het
Hyou1	C	T	9: 44,381,344	R119C	probably damaging	Het
Ighm	A	T	12: 113,421,602	L246Q	unknown	Het
Itpr3	A	G	17: 27,106,405	E1324G	probably damaging	Het
Loxl4	G	T	19: 42,595,366	Q749K	possibly damaging	Het
Muc2	C	A	7: 141,745,644		probably benign	Het
Myh11	T	C	16: 14,205,976	T1505A	probably benign	Het
Nsmce2	A	G	15: 59,378,943	E21G	probably damaging	Het
Olfr1220	T	A	2: 89,097,910	I6F	probably benign	Het
Olfr273	T	A	4: 52,856,516		probably benign	Het
Plaa	A	G	4: 94,583,487	I375T	probably benign	Het
Pou2f1	C	T	1: 165,915,130	A65T	probably benign	Het
Rictor	G	A	15: 6,794,006	E1555K	probably benign	Het
Rxfp1	T	A	3: 79,663,313	N271Y	possibly damaging	Het
Sema5b	T	G	16: 35,646,386	Y219*	probably null	Het
Slc35f3	G	T	8: 126,321,080	R53L	probably benign	Het
Slc44a5	T	C	3: 154,258,392	V465A	possibly damaging	Het
Slc9a5	A	G	8: 105,357,165	I446V	possibly damaging	Het
Slf1	A	T	13: 77,106,087	D204E	possibly damaging	Het
Sox5	T	A	6: 144,209,362	T3S	probably damaging	Het
Srr	G	A	11: 74,913,012	R40C	possibly damaging	Het
Tas2r115	T	A	6: 132,737,538	H150L	possibly damaging	Het
Tet2	A	G	3: 133,486,640	S678P	probably benign	Het
Tmem11	T	C	11: 60,864,858	K183E	probably damaging	Het
Upf1	T	C	8: 70,334,762		probably null	Het
Xpo6	A	T	7: 126,149,502		probably benign	Het
Zfp638	C	T	6: 83,977,065	S1384L	probably damaging	Het

Other mutations in Zfp703

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02441:Zfp703	APN	8	26980008	missense	probably damaging	0.98
R1524:Zfp703	UTSW	8	26979373	missense	probably damaging	1.00
R2082:Zfp703	UTSW	8	26978988	missense	probably benign	0.01
R4049:Zfp703	UTSW	8	26979085	missense	possibly damaging	0.70
R4570:Zfp703	UTSW	8	26978953	missense	probably benign	0.10
R4884:Zfp703	UTSW	8	26978701	missense	probably benign	0.03
R4929:Zfp703	UTSW	8	26978851	missense	possibly damaging	0.66
R4938:Zfp703	UTSW	8	26979773	missense	probably damaging	1.00
R4943:Zfp703	UTSW	8	26979591	missense	probably benign	0.35
R5117:Zfp703	UTSW	8	26979205	missense	probably damaging	1.00
R5118:Zfp703	UTSW	8	26979205	missense	probably damaging	1.00
R5297:Zfp703	UTSW	8	26979205	missense	probably damaging	1.00
R5465:Zfp703	UTSW	8	26979205	missense	probably damaging	1.00
R5466:Zfp703	UTSW	8	26979205	missense	probably damaging	1.00
R5467:Zfp703	UTSW	8	26979205	missense	probably damaging	1.00
R5492:Zfp703	UTSW	8	26979205	missense	probably damaging	1.00
R5493:Zfp703	UTSW	8	26979205	missense	probably damaging	1.00
R5494:Zfp703	UTSW	8	26979205	missense	probably damaging	1.00
R5757:Zfp703	UTSW	8	26979205	missense	probably damaging	1.00
R5758:Zfp703	UTSW	8	26979205	missense	probably damaging	1.00
R5802:Zfp703	UTSW	8	26979205	missense	probably damaging	1.00
R5828:Zfp703	UTSW	8	26979205	missense	probably damaging	1.00
R5850:Zfp703	UTSW	8	26979205	missense	probably damaging	1.00
R5854:Zfp703	UTSW	8	26979205	missense	probably damaging	1.00
R5959:Zfp703	UTSW	8	26979205	missense	probably damaging	1.00
R6464:Zfp703	UTSW	8	26979327	missense	probably damaging	1.00
R6867:Zfp703	UTSW	8	26978640	missense	probably damaging	0.97
R7067:Zfp703	UTSW	8	26979016	missense	probably damaging	0.96
R7812:Zfp703	UTSW	8	26979878	missense	probably damaging	1.00
R7880:Zfp703	UTSW	8	26978690	missense	unknown
R8167:Zfp703	UTSW	8	26979754	missense	probably damaging	1.00
R8966:Zfp703	UTSW	8	26978274	missense	possibly damaging	0.83
R9686:Zfp703	UTSW	8	26979016	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CACTCAGACTGCAAGAACGG -3'
(R):5'- TAGGGGTCACGGCATAATCC -3'

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

Posted On

2017-02-10