Mutagenetix > Incidental Mutation

Incidental Mutation 'R5118:Zfp703'

392743

Institutional Source

Beutler Lab

Gene Symbol

Zfp703

Ensembl Gene

ENSMUSG00000085795

Gene Name

zinc finger protein 703

Synonyms

Zeppo1, End2, 1110032O19Rik, Csmn1

MMRRC Submission

042706-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.459) question?

Stock #

R5118 (G1)

Quality Score

187

Status

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: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

96% (52/54)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Adamts2	A	G	11: 50,781,869	E648G	probably damaging	Het
Ankrd55	A	G	13: 112,355,939	S187G	probably benign	Het
BC080695	T	C	4: 143,571,127	L39P	probably damaging	Het
C87414	T	A	5: 93,637,797	D208V	probably benign	Het
Cd44	C	A	2: 102,865,370	E52D	probably damaging	Het
Col6a5	T	A	9: 105,937,005	I603F	unknown	Het
Dmxl2	C	A	9: 54,460,987	R233L	probably damaging	Het
Dopey1	T	C	9: 86,506,259	F429L	probably damaging	Het
Epsti1	T	G	14: 77,986,682		probably null	Het
Erfe	G	T	1: 91,370,716		probably null	Het
Galnt5	A	G	2: 58,015,003	D526G	probably damaging	Het
Gm1330	T	C	2: 149,002,986		probably benign	Het
Gm6181	G	A	7: 52,755,616		noncoding transcript	Het
Irak2	T	A	6: 113,665,811	V68D	probably benign	Het
Kdm1a	A	G	4: 136,557,358		probably benign	Het
Kidins220	C	A	12: 24,992,297	Q198K	probably damaging	Het
Lgr5	A	G	10: 115,452,339	V728A	possibly damaging	Het
Micall2	G	A	5: 139,716,447	T347M	probably damaging	Het
Mrap2	T	C	9: 87,182,703	F166L	possibly damaging	Het
Msh3	A	T	13: 92,309,434		probably benign	Het
Mul1	T	A	4: 138,439,349	L238Q	probably damaging	Het
Nuak1	G	T	10: 84,374,984	H413Q	probably benign	Het
Olfr1408	T	C	1: 173,130,917	Q100R	possibly damaging	Het
Pcnt	C	T	10: 76,412,168	A931T	probably damaging	Het
Pddc1	A	T	7: 141,406,806		probably benign	Het
Psmb4	T	C	3: 94,884,942	Y223C	probably damaging	Het
Rbm15b	G	T	9: 106,886,102	A289E	possibly damaging	Het
Reg3b	T	A	6: 78,372,128	V79E	probably damaging	Het
Rsl1	A	G	13: 67,181,981	I164M	probably damaging	Het
Rtp1	T	C	16: 23,431,535	F217L	probably benign	Het
Sfmbt1	T	C	14: 30,790,770	L360P	probably damaging	Het
Sorbs2	T	C	8: 45,795,785	V611A	probably damaging	Het
Tenm4	T	A	7: 96,893,086	D1935E	probably damaging	Het
Tep1	T	C	14: 50,855,587		probably null	Het
Tmppe	T	G	9: 114,405,481	S283A	probably benign	Het
Tmtc1	A	G	6: 148,269,987		probably benign	Het
Trp63	T	C	16: 25,889,010	I552T	unknown	Het
Tspan2	C	A	3: 102,749,835	D45E	probably benign	Het
Ubr1	T	C	2: 120,882,264	E1396G	probably benign	Het
Usp17lc	A	T	7: 103,418,661	T388S	probably benign	Het
Wdr46	T	C	17: 33,948,837	V508A	possibly damaging	Het
Zcchc11	T	A	4: 108,520,292	D966E	possibly damaging	Het
Zfp462	T	A	4: 55,010,667	Y878N	probably damaging	Het
Zfp954	T	A	7: 7,115,715	T277S	probably benign	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
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
R5856: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'- TCACGGCATAATCCCTGCAG -3'

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

Posted On

2016-06-15