Mutagenetix > Incidental Mutation

Incidental Mutation 'R0853:Zfp1002'

82606

Institutional Source

Beutler Lab

Gene Symbol

Zfp1002

Ensembl Gene

ENSMUSG00000074735

Gene Name

zinc finger protein 1002

Synonyms

Gm21994

MMRRC Submission

039032-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.396) question?

Stock #

R0853 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150096438-150097511 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 150097398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 38 (S38R)

Ref Sequence

ENSEMBL: ENSMUSP00000075719 (fasta)

Gene Model

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

AlphaFold

F6T2D2

Predicted Effect

probably benign
Transcript: ENSMUST00000063463
AA Change: S38R

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000075719
Gene: ENSMUSG00000074735
AA Change: S38R

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

Meta Mutation Damage Score

0.1697

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.9%

Validation Efficiency

93% (42/45)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amotl1	G	T	9: 14,504,074 (GRCm39)	P378Q	probably damaging	Het
Angpt4	A	G	2: 151,780,847 (GRCm39)	E365G	probably damaging	Het
Asb6	G	A	2: 30,717,042 (GRCm39)	P61L	possibly damaging	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Atxn7	C	A	14: 14,089,465 (GRCm38)		probably benign	Het
Cacul1	A	T	19: 60,522,664 (GRCm39)	I290N	probably damaging	Het
Ccser2	A	C	14: 36,662,367 (GRCm39)	S272R	probably benign	Het
Cfh	T	A	1: 140,033,228 (GRCm39)	H772L	probably damaging	Het
Cldn6	T	G	17: 23,900,438 (GRCm39)	I134S	probably damaging	Het
Col3a1	T	A	1: 45,382,484 (GRCm39)		probably benign	Het
Fam118a	T	C	15: 84,932,726 (GRCm39)	F156S	possibly damaging	Het
Fgd4	T	A	16: 16,292,251 (GRCm39)		probably benign	Het
Gckr	G	C	5: 31,462,392 (GRCm39)	A242P	probably damaging	Het
Gcnt4	A	G	13: 97,083,343 (GRCm39)	D213G	probably damaging	Het
Hace1	T	A	10: 45,524,779 (GRCm39)	V237E	probably damaging	Het
Herc3	T	C	6: 58,853,549 (GRCm39)	L570P	probably damaging	Het
Hk1	T	A	10: 62,107,495 (GRCm39)	K827*	probably null	Het
Hyal6	T	C	6: 24,734,072 (GRCm39)	F2L	probably benign	Het
Jak2	C	A	19: 29,262,326 (GRCm39)	Y382*	probably null	Het
Kat8	C	T	7: 127,524,396 (GRCm39)	H425Y	probably benign	Het
Kcnj3	T	C	2: 55,327,235 (GRCm39)	F8S	possibly damaging	Het
Klk1	T	A	7: 43,870,922 (GRCm39)		probably benign	Het
Klra8	T	C	6: 130,095,977 (GRCm39)	Y205C	probably damaging	Het
Kpnb1	T	C	11: 97,078,237 (GRCm39)	E26G	probably damaging	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Nphp3	T	C	9: 103,909,132 (GRCm39)	S781P	probably benign	Het
Nqo2	A	T	13: 34,163,560 (GRCm39)	H73L	probably benign	Het
P3h3	G	T	6: 124,831,896 (GRCm39)	D296E	probably benign	Het
Pah	G	A	10: 87,412,080 (GRCm39)		probably null	Het
Pcdhb4	T	G	18: 37,442,938 (GRCm39)	Y749*	probably null	Het
Pdgfrb	C	A	18: 61,213,399 (GRCm39)	N914K	probably damaging	Het
Ralyl	A	G	3: 14,011,566 (GRCm39)	Y4C	probably damaging	Het
Rapgef6	T	A	11: 54,559,503 (GRCm39)	I1052N	probably damaging	Het
Sdk2	G	A	11: 113,712,241 (GRCm39)	T1642I	probably benign	Het
Siglec1	G	A	2: 130,926,942 (GRCm39)	T207M	probably damaging	Het
Taf1b	T	C	12: 24,564,827 (GRCm39)	L148P	probably benign	Het
Tbx20	A	G	9: 24,636,908 (GRCm39)	M393T	probably benign	Het
Tdp1	G	A	12: 99,901,326 (GRCm39)	R536H	probably damaging	Het
Tubgcp5	T	A	7: 55,464,599 (GRCm39)		probably benign	Het
Vezf1	A	T	11: 88,068,435 (GRCm38)		probably benign	Het
Vmn1r58	G	T	7: 5,413,324 (GRCm39)	T302K	probably damaging	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
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
R6963:Zfp1002	UTSW	2	150,097,265 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-11-08