Mutagenetix > Incidental Mutation

Incidental Mutation 'R1239:Zfp1004'

151868

Institutional Source

Beutler Lab

Gene Symbol

Zfp1004

Ensembl Gene

ENSMUSG00000079009

Gene Name

zinc finger protein 1004

Synonyms

Gm14139

MMRRC Submission

039306-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R1239 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150023675-150035199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 150033891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 71 (Y71H)

Ref Sequence

ENSEMBL: ENSMUSP00000105552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109926] [ENSMUST00000109929]

AlphaFold

F6ZS36

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109926
AA Change: Y71H

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105552
Gene: ENSMUSG00000079009
AA Change: Y71H

Domain	Start	End	E-Value	Type
Blast:KRAB	1	34	7e-15	BLAST
ZnF_C2H2	71	93	8.6e-5	SMART
ZnF_C2H2	99	121	1.76e-1	SMART
ZnF_C2H2	127	149	3.02e0	SMART
ZnF_C2H2	183	205	6.08e-5	SMART
ZnF_C2H2	211	233	1.04e-3	SMART
ZnF_C2H2	239	261	2.57e-3	SMART
ZnF_C2H2	267	289	1.06e-4	SMART
ZnF_C2H2	295	317	2.2e-2	SMART
ZnF_C2H2	323	345	4.47e-3	SMART
ZnF_C2H2	351	373	7.37e-4	SMART
ZnF_C2H2	379	401	4.24e-4	SMART
ZnF_C2H2	407	429	1.2e-3	SMART
ZnF_C2H2	435	457	2.61e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109929
AA Change: Y102H

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105555
Gene: ENSMUSG00000079009
AA Change: Y102H

Domain	Start	End	E-Value	Type
KRAB	3	65	1.65e-15	SMART
ZnF_C2H2	102	124	8.6e-5	SMART
ZnF_C2H2	130	152	1.76e-1	SMART
ZnF_C2H2	158	180	3.02e0	SMART
ZnF_C2H2	214	236	6.08e-5	SMART
ZnF_C2H2	242	264	1.04e-3	SMART
ZnF_C2H2	270	292	2.57e-3	SMART
ZnF_C2H2	298	320	1.06e-4	SMART
ZnF_C2H2	326	348	2.2e-2	SMART
ZnF_C2H2	354	376	4.47e-3	SMART
ZnF_C2H2	382	404	7.37e-4	SMART
ZnF_C2H2	410	432	4.24e-4	SMART
ZnF_C2H2	438	460	1.2e-3	SMART
ZnF_C2H2	466	488	2.61e-4	SMART

Meta Mutation Damage Score

0.4085

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	C	T	19: 4,915,483 (GRCm39)		probably benign	Het
Adcy8	G	T	15: 64,587,911 (GRCm39)	R959S	probably damaging	Het
Ank1	A	G	8: 23,586,171 (GRCm39)	N455D	probably damaging	Het
Ankrd17	T	C	5: 90,436,535 (GRCm39)	T589A	probably damaging	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Celsr1	G	T	15: 85,863,347 (GRCm39)	N1228K	probably damaging	Het
Ces4a	T	C	8: 105,876,130 (GRCm39)	L557P	probably damaging	Het
Chd1l	C	T	3: 97,490,047 (GRCm39)	E503K	probably benign	Het
Clba1	A	G	12: 112,773,123 (GRCm39)	R39G	probably benign	Het
Col27a1	T	C	4: 63,237,152 (GRCm39)		probably benign	Het
Cplx2	G	T	13: 54,527,415 (GRCm39)	A100S	probably damaging	Het
Cpsf6	G	A	10: 117,197,248 (GRCm39)		probably benign	Het
Cyp1a2	A	G	9: 57,589,050 (GRCm39)	F255L	probably benign	Het
Dnajc6	T	C	4: 101,492,313 (GRCm39)	Y783H	probably damaging	Het
E230025N22Rik	T	C	18: 36,818,528 (GRCm39)	I434V	probably damaging	Het
Ermap	T	C	4: 119,046,122 (GRCm39)	K3E	probably benign	Het
Gatd3a	A	G	10: 78,004,761 (GRCm39)		probably benign	Het
Gstm2	G	A	3: 107,891,344 (GRCm39)	L125F	possibly damaging	Het
Hk2	C	T	6: 82,726,289 (GRCm39)	G58R	probably damaging	Het
Jpt2	T	C	17: 25,179,585 (GRCm39)	M1V	probably null	Het
Matcap2	GTTCTTC	GTTC	9: 22,335,995 (GRCm39)		probably benign	Het
Mgmt	T	C	7: 136,729,786 (GRCm39)	F200S	probably benign	Het
Mug2	T	G	6: 122,058,637 (GRCm39)		probably benign	Het
Or2ad1	C	T	13: 21,326,337 (GRCm39)	V297I	probably benign	Het
Or5an11	G	T	19: 12,246,340 (GRCm39)	V249F	probably damaging	Het
Or5b109	G	A	19: 13,212,040 (GRCm39)	C142Y	possibly damaging	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Phc3	A	G	3: 30,968,279 (GRCm39)	V886A	probably damaging	Het
Plcg2	T	A	8: 118,282,783 (GRCm39)	V88D	probably benign	Het
Podxl2	C	T	6: 88,826,965 (GRCm39)	V50I	probably benign	Het
Rap1gap	G	T	4: 137,445,307 (GRCm39)	M329I	probably damaging	Het
Rbm5	A	G	9: 107,630,165 (GRCm39)		probably benign	Het
Robo1	A	G	16: 72,821,430 (GRCm39)		probably null	Het
Ryr2	A	T	13: 11,897,929 (GRCm39)		probably null	Het
Skida1	A	C	2: 18,052,128 (GRCm39)		probably benign	Het
Tecta	A	G	9: 42,243,781 (GRCm39)	F2024L	probably damaging	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,465,042 (GRCm39)		probably benign	Het
Vmn1r16	C	T	6: 57,300,618 (GRCm39)	M1I	probably null	Het
Zbtb39	G	T	10: 127,578,938 (GRCm39)	G504V	probably damaging	Het
Zfp106	A	T	2: 120,364,075 (GRCm39)	N777K	probably damaging	Het

Other mutations in Zfp1004

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0254:Zfp1004	UTSW	2	150,033,784 (GRCm39)	missense	possibly damaging	0.78
R0505:Zfp1004	UTSW	2	150,035,000 (GRCm39)	nonsense	probably null
R0562:Zfp1004	UTSW	2	150,034,494 (GRCm39)	missense	probably damaging	1.00
R1878:Zfp1004	UTSW	2	150,034,989 (GRCm39)	missense	probably damaging	1.00
R1966:Zfp1004	UTSW	2	150,033,827 (GRCm39)	missense	probably benign	0.00
R2001:Zfp1004	UTSW	2	150,034,867 (GRCm39)	missense	probably benign	0.00
R2208:Zfp1004	UTSW	2	150,035,065 (GRCm39)	missense	probably benign	0.40
R3110:Zfp1004	UTSW	2	150,034,141 (GRCm39)	missense	probably damaging	1.00
R3112:Zfp1004	UTSW	2	150,034,141 (GRCm39)	missense	probably damaging	1.00
R4135:Zfp1004	UTSW	2	150,023,788 (GRCm39)	splice site	probably benign
R4299:Zfp1004	UTSW	2	150,032,653 (GRCm39)	missense	probably damaging	1.00
R4579:Zfp1004	UTSW	2	150,034,143 (GRCm39)	missense	probably damaging	1.00
R4818:Zfp1004	UTSW	2	150,033,981 (GRCm39)	missense	probably damaging	1.00
R4894:Zfp1004	UTSW	2	150,033,899 (GRCm39)	nonsense	probably null
R5432:Zfp1004	UTSW	2	150,033,901 (GRCm39)	missense	possibly damaging	0.68
R5669:Zfp1004	UTSW	2	150,034,098 (GRCm39)	missense	probably benign	0.09
R6106:Zfp1004	UTSW	2	150,034,725 (GRCm39)	missense	probably damaging	1.00
R6857:Zfp1004	UTSW	2	150,033,982 (GRCm39)	missense	probably damaging	1.00
R7450:Zfp1004	UTSW	2	150,035,046 (GRCm39)	missense	probably benign	0.04
R8011:Zfp1004	UTSW	2	150,034,266 (GRCm39)	missense	possibly damaging	0.70
R8519:Zfp1004	UTSW	2	150,034,700 (GRCm39)	missense	probably benign	0.37
R9482:Zfp1004	UTSW	2	150,034,711 (GRCm39)	missense	probably benign	0.01

Predicted Primers

Posted On

2014-01-29