Mutagenetix > Incidental Mutation

Incidental Mutation 'R6963:Zfp1002'

543312

Institutional Source

Beutler Lab

Gene Symbol

Zfp1002

Ensembl Gene

ENSMUSG00000074735

Gene Name

zinc finger protein 1002

Synonyms

Gm21994

MMRRC Submission

045073-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.368) question?

Stock #

R6963 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

150096438-150097511 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 150097265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 55 (C55R)

Ref Sequence

ENSEMBL: ENSMUSP00000075719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063463] [ENSMUST00000109922]

AlphaFold

F6T2D2

Predicted Effect

probably damaging
Transcript: ENSMUST00000063463
AA Change: C55R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000075719
Gene: ENSMUSG00000074735
AA Change: C55R

Domain	Start	End	E-Value	Type
ZnF_C2H2	1	18	2.7e2	SMART
ZnF_C2H2	53	73	2.75e1	SMART
ZnF_C2H2	77	99	6.42e-4	SMART
ZnF_C2H2	132	154	1.58e-3	SMART
ZnF_C2H2	160	182	1.12e-3	SMART
ZnF_C2H2	188	210	4.01e-5	SMART
ZnF_C2H2	216	238	3.16e-3	SMART
ZnF_C2H2	244	266	8.94e-3	SMART
ZnF_C2H2	272	294	9.58e-3	SMART
ZnF_C2H2	300	322	1.95e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109922

SMART Domains

Protein: ENSMUSP00000105548
Gene: ENSMUSG00000079008

Domain	Start	End	E-Value	Type
KRAB	4	66	9.26e-19	SMART
ZnF_C2H2	103	125	7.49e-5	SMART
ZnF_C2H2	131	151	9.46e0	SMART
ZnF_C2H2	159	181	5.9e-3	SMART
ZnF_C2H2	187	209	6.67e-2	SMART
ZnF_C2H2	215	237	4.87e-4	SMART
ZnF_C2H2	243	265	2.82e0	SMART
ZnF_C2H2	271	293	2.2e2	SMART
ZnF_C2H2	299	321	1.4e-4	SMART
ZnF_C2H2	327	349	1.6e-4	SMART
ZnF_C2H2	355	377	1.18e-2	SMART
ZnF_C2H2	383	405	1.38e-3	SMART
ZnF_C2H2	411	433	9.56e1	SMART
ZnF_C2H2	439	461	6.99e-5	SMART
ZnF_C2H2	467	489	2.99e-4	SMART
ZnF_C2H2	495	517	7.78e-3	SMART
ZnF_C2H2	523	545	1.04e-3	SMART
ZnF_C2H2	551	573	1.6e-4	SMART
ZnF_C2H2	579	601	1.18e-2	SMART
ZnF_C2H2	607	629	4.54e-4	SMART
ZnF_C2H2	635	657	4.24e-4	SMART
ZnF_C2H2	663	685	1.2e-3	SMART
ZnF_C2H2	691	713	8.47e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	A	5: 77,044,303 (GRCm39)	H196Y	probably damaging	Het
Abi3	G	A	11: 95,723,567 (GRCm39)		probably benign	Het
Adgrb2	CG	C	4: 129,908,155 (GRCm39)		probably null	Het
Asgr1	T	C	11: 69,946,794 (GRCm39)		probably null	Het
Atp2c2	C	T	8: 120,457,006 (GRCm39)	R203*	probably null	Het
Brms1	T	A	19: 5,096,681 (GRCm39)	I121N	probably damaging	Het
Ccdc149	G	A	5: 52,596,439 (GRCm39)	R58W	probably damaging	Het
D630003M21Rik	T	C	2: 158,042,228 (GRCm39)	E906G	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fry	A	G	5: 150,381,309 (GRCm39)	T444A	probably benign	Het
Ggn	A	G	7: 28,871,007 (GRCm39)	E142G	probably damaging	Het
Gm5150	A	G	3: 16,060,555 (GRCm39)		probably benign	Het
Gm57858	A	G	3: 36,104,811 (GRCm39)	Y17H	probably benign	Het
Gp2	A	G	7: 119,052,120 (GRCm39)	V198A	probably benign	Het
Gstm3	A	G	3: 107,874,940 (GRCm39)	V104A	probably benign	Het
Idua	A	G	5: 108,827,641 (GRCm39)	K152E	possibly damaging	Het
Igsf21	A	G	4: 139,755,041 (GRCm39)	S443P	probably benign	Het
Kdm5d	C	A	Y: 937,975 (GRCm39)	Q925K	probably benign	Het
Ly6k	G	C	15: 74,670,431 (GRCm39)	P37R	probably damaging	Het
Mcm9	A	G	10: 53,424,713 (GRCm39)	S626P	probably damaging	Het
Mcoln2	A	G	3: 145,877,790 (GRCm39)	K137R	probably damaging	Het
Mctp2	T	C	7: 71,877,804 (GRCm39)	N298S	probably damaging	Het
Myo10	T	C	15: 25,734,149 (GRCm39)	I379T	probably benign	Het
Myo15b	G	T	11: 115,781,540 (GRCm39)		probably null	Het
Nrg1	A	G	8: 32,407,690 (GRCm39)	F181S	probably benign	Het
Or5b24	C	T	19: 12,913,002 (GRCm39)	A300V	probably damaging	Het
Pals2	T	C	6: 50,140,635 (GRCm39)		probably null	Het
Pde9a	G	T	17: 31,662,861 (GRCm39)	V97L	probably benign	Het
Rfc5	T	A	5: 117,525,931 (GRCm39)		probably null	Het
Rnf145	T	C	11: 44,455,104 (GRCm39)	S662P	probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Scfd2	A	G	5: 74,642,870 (GRCm39)	V359A	probably damaging	Het
Skp2	T	C	15: 9,139,515 (GRCm39)		probably null	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Tekt2	T	C	4: 126,218,110 (GRCm39)	E134G	probably damaging	Het
Ttll4	T	A	1: 74,720,975 (GRCm39)	I547K	probably damaging	Het
Vmn1r4	T	C	6: 56,933,769 (GRCm39)	I91T	probably damaging	Het
Vmn2r93	T	C	17: 18,536,849 (GRCm39)	S511P	probably damaging	Het
Vps50	T	C	6: 3,592,577 (GRCm39)		probably null	Het
Zeb2	T	G	2: 44,878,811 (GRCm39)	E1141A	probably damaging	Het
Zfp326	T	A	5: 106,059,359 (GRCm39)	Y373*	probably null	Het

Other mutations in Zfp1002

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6648_Gm21994_337	UTSW	2	150,097,097 (GRCm39)	missense	probably benign	0.01
R0853:Zfp1002	UTSW	2	150,097,398 (GRCm39)	missense	probably benign	0.30
R5135:Zfp1002	UTSW	2	150,097,410 (GRCm39)	nonsense	probably null
R5161:Zfp1002	UTSW	2	150,097,135 (GRCm39)	missense	probably damaging	0.99
R5782:Zfp1002	UTSW	2	150,097,438 (GRCm39)	missense	probably benign	0.41
R6019:Zfp1002	UTSW	2	150,097,132 (GRCm39)	missense	probably damaging	1.00
R6284:Zfp1002	UTSW	2	150,097,198 (GRCm39)	missense	possibly damaging	0.95
R6476:Zfp1002	UTSW	2	150,097,246 (GRCm39)	missense	probably benign	0.00
R6479:Zfp1002	UTSW	2	150,096,511 (GRCm39)	missense	probably damaging	0.99
R6648:Zfp1002	UTSW	2	150,097,097 (GRCm39)	missense	probably benign	0.01
R6736:Zfp1002	UTSW	2	150,097,198 (GRCm39)	missense	possibly damaging	0.95
R7014:Zfp1002	UTSW	2	150,097,182 (GRCm39)	nonsense	probably null
R7138:Zfp1002	UTSW	2	150,097,372 (GRCm39)	missense	probably damaging	1.00
R7625:Zfp1002	UTSW	2	150,096,520 (GRCm39)	missense	probably benign	0.05
R7855:Zfp1002	UTSW	2	150,097,066 (GRCm39)	missense	probably benign	0.00
R8145:Zfp1002	UTSW	2	150,096,455 (GRCm39)	missense	probably benign	0.00
R8284:Zfp1002	UTSW	2	150,097,276 (GRCm39)	unclassified	probably benign
R9712:Zfp1002	UTSW	2	150,096,496 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CGTAGTCCACTTTGACATCCAAG -3'
(R):5'- TGCAGGCATGAAAGAAGTCATACTG -3'

Sequencing Primer
(F):5'- TGACATCCAAGGACTTTAATACTTTG -3'
(R):5'- GAGCAACCCTCTGAGTTTATTCAAC -3'

Posted On

2018-11-28