Mutagenetix > Incidental Mutation

Incidental Mutation 'R8049:Zfp1006'

618935

Institutional Source

Beutler Lab

Gene Symbol

Zfp1006

Ensembl Gene

ENSMUSG00000071302

Gene Name

zinc finger protein 1006

Synonyms

2610044O15Rik8

MMRRC Submission

067486-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R8049 (G1)

Quality Score

146.008

Status

Validated

Chromosome

Chromosomal Location

129942835-129960527 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129946555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 90 (L90H)

Ref Sequence

ENSEMBL: ENSMUSP00000140654 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079272] [ENSMUST00000186619] [ENSMUST00000188757] [ENSMUST00000189965] [ENSMUST00000190157] [ENSMUST00000191043]

AlphaFold

A0A087WRJ1

Predicted Effect

probably benign
Transcript: ENSMUST00000079272

SMART Domains

Protein: ENSMUSP00000078254
Gene: ENSMUSG00000071302

Domain	Start	End	E-Value	Type
KRAB	3	65	2.79e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000186619
AA Change: L90H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140654
Gene: ENSMUSG00000071302
AA Change: L90H

Domain	Start	End	E-Value	Type
KRAB	4	66	1.2e-15	SMART
ZnF_C2H2	75	97	3.7e-2	SMART
ZnF_C2H2	103	125	3e-4	SMART
ZnF_C2H2	131	153	3.7e-5	SMART
ZnF_C2H2	159	181	4e-6	SMART
ZnF_C2H2	187	209	9.6e-6	SMART
ZnF_C2H2	215	237	8.7e-6	SMART
ZnF_C2H2	243	265	1.2e-5	SMART
ZnF_C2H2	271	293	9.9e-6	SMART
ZnF_C2H2	299	321	8.3e-6	SMART
ZnF_C2H2	327	349	3.8e-7	SMART
ZnF_C2H2	355	377	2.5e-5	SMART
ZnF_C2H2	383	405	3.9e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188757

SMART Domains

Protein: ENSMUSP00000140555
Gene: ENSMUSG00000071302

Domain	Start	End	E-Value	Type
KRAB	4	66	2.79e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000189965

SMART Domains

Protein: ENSMUSP00000140304
Gene: ENSMUSG00000071302

Domain	Start	End	E-Value	Type
KRAB	4	66	1.2e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000190157

SMART Domains

Protein: ENSMUSP00000140736
Gene: ENSMUSG00000071302

Domain	Start	End	E-Value	Type
KRAB	4	66	2.79e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191043

SMART Domains

Protein: ENSMUSP00000139392
Gene: ENSMUSG00000071302

Domain	Start	End	E-Value	Type
KRAB	4	66	6.1e-16	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	T	16: 88,555,992 (GRCm39)	T69S	probably benign	Het
5730455P16Rik	A	G	11: 80,268,798 (GRCm39)	S4P	possibly damaging	Het
Abca13	T	A	11: 9,241,867 (GRCm39)	N1243K	probably damaging	Het
Adgrg6	A	T	10: 14,303,943 (GRCm39)	S824T	probably benign	Het
Armh4	G	T	14: 50,010,993 (GRCm39)	A238E	probably damaging	Het
C3ar1	T	A	6: 122,827,059 (GRCm39)	Y386F	probably damaging	Het
Cdc14a	T	C	3: 116,087,577 (GRCm39)	N527S	probably benign	Het
Cfap69	A	T	5: 5,669,085 (GRCm39)		probably benign	Het
Col7a1	C	T	9: 108,804,631 (GRCm39)	P2279S	unknown	Het
Crb2	G	A	2: 37,683,252 (GRCm39)	G918D	probably benign	Het
Dcn	C	A	10: 97,349,479 (GRCm39)	N250K	probably damaging	Het
Dctn5	G	A	7: 121,732,466 (GRCm39)		probably benign	Het
Ddx55	T	C	5: 124,694,821 (GRCm39)	V83A	probably damaging	Het
Dnaja2	T	A	8: 86,265,876 (GRCm39)	H403L	possibly damaging	Het
Dpy19l4	T	C	4: 11,303,982 (GRCm39)	I143V	probably benign	Het
Efna5	G	T	17: 62,957,977 (GRCm39)	T93K	probably benign	Het
Eml6	A	G	11: 29,843,201 (GRCm39)	V171A	possibly damaging	Het
Esyt1	C	G	10: 128,347,955 (GRCm39)	V942L	probably benign	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fam78a	C	A	2: 31,973,035 (GRCm39)		probably benign	Het
Fat2	A	G	11: 55,202,892 (GRCm39)	Y61H	probably benign	Het
Fbxw14	A	T	9: 109,105,211 (GRCm39)	M318K	probably damaging	Het
Gm14295	A	G	2: 176,500,871 (GRCm39)	I120M	probably benign	Het
Gm14403	T	A	2: 177,200,311 (GRCm39)	Y86N	probably benign	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gpr55	T	C	1: 85,869,419 (GRCm39)	D54G	probably benign	Het
Gtf2b	T	G	3: 142,483,975 (GRCm39)	S50A	probably damaging	Het
Ifit3	A	T	19: 34,565,480 (GRCm39)	E342V	possibly damaging	Het
Iqgap3	T	A	3: 88,011,609 (GRCm39)	I798N	probably damaging	Het
Kplce	A	T	3: 92,776,202 (GRCm39)	Y160*	probably null	Het
Lpin1	T	C	12: 16,613,685 (GRCm39)	D494G		Het
Lsm12	T	C	11: 102,056,235 (GRCm39)	E149G	possibly damaging	Het
Mtfr2	T	C	10: 20,228,603 (GRCm39)	S50P	possibly damaging	Het
Ndnf	T	C	6: 65,680,414 (GRCm39)	M231T	probably benign	Het
Noc3l	A	T	19: 38,800,873 (GRCm39)	V203E	probably benign	Het
Or1e27-ps1	G	T	11: 73,555,988 (GRCm39)	K184N	possibly damaging	Het
Or52h2	C	A	7: 103,839,017 (GRCm39)	L132F	probably damaging	Het
Or5c1	A	T	2: 37,222,346 (GRCm39)	T196S	probably damaging	Het
Or9r7	A	T	10: 129,962,469 (GRCm39)	Y152*	probably null	Het
Pcnx1	C	T	12: 81,965,593 (GRCm39)	R59*	probably null	Het
Pde6b	C	T	5: 108,573,118 (GRCm39)	P496L	probably benign	Het
Plppr1	A	T	4: 49,300,942 (GRCm39)	M92L	probably benign	Het
Pphln1-ps1	C	T	16: 13,495,623 (GRCm39)	R241C	probably damaging	Het
Ptprk	C	G	10: 28,259,565 (GRCm39)	S335C	possibly damaging	Het
Rars2	T	A	4: 34,650,217 (GRCm39)	M334K	probably benign	Het
Rasl10a	A	T	11: 5,009,823 (GRCm39)	I124F	probably damaging	Het
Rgs12	T	A	5: 35,183,374 (GRCm39)	V1007E	possibly damaging	Het
Rnf122	T	A	8: 31,618,608 (GRCm39)	C119S	probably damaging	Het
Scn11a	T	A	9: 119,584,149 (GRCm39)	I1489F	probably damaging	Het
Setd6	C	A	8: 96,443,316 (GRCm39)	S186R	probably benign	Het
Tex19.1	A	G	11: 121,038,148 (GRCm39)	T169A	probably benign	Het
Th	G	A	7: 142,447,860 (GRCm39)	P408S	probably damaging	Het
Trappc13	T	C	13: 104,281,052 (GRCm39)	M337V	probably benign	Het
Treml2	A	T	17: 48,609,762 (GRCm39)	K65*	probably null	Het
Ubxn4	T	C	1: 128,183,933 (GRCm39)	S98P	probably damaging	Het
Wrnip1	A	G	13: 33,005,960 (GRCm39)	S601G	probably benign	Het

Other mutations in Zfp1006

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1956:Zfp1006	UTSW	8	129,948,309 (GRCm39)	missense	possibly damaging	0.82
R6740:Zfp1006	UTSW	8	129,960,881 (GRCm39)	splice site	probably null
R6871:Zfp1006	UTSW	8	129,960,881 (GRCm39)	splice site	probably null
R7060:Zfp1006	UTSW	8	129,945,613 (GRCm39)	missense	probably benign	0.00
R7185:Zfp1006	UTSW	8	129,946,502 (GRCm39)	missense	probably benign	0.38
R7696:Zfp1006	UTSW	8	129,945,794 (GRCm39)	missense	probably benign	0.00
R7707:Zfp1006	UTSW	8	129,945,660 (GRCm39)	nonsense	probably null
R8765:Zfp1006	UTSW	8	129,948,070 (GRCm39)	missense	probably benign	0.01
R8798:Zfp1006	UTSW	8	129,945,779 (GRCm39)	missense	probably damaging	0.99
R8980:Zfp1006	UTSW	8	129,945,680 (GRCm39)	missense	probably damaging	1.00
R8996:Zfp1006	UTSW	8	129,946,016 (GRCm39)	missense	possibly damaging	0.78
R9336:Zfp1006	UTSW	8	129,944,149 (GRCm39)	missense	unknown
R9797:Zfp1006	UTSW	8	129,946,534 (GRCm39)	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- ATTCATACGGTTTCTCTCCAGAAT -3'
(R):5'- AATGCAGTCAGTGTGGTAAAGCTT -3'

Sequencing Primer
(F):5'- ATACGGTTTCTCTCCAGAATGTGTTC -3'
(R):5'- CCATGATGGATATCTTCAAAGGTG -3'

Posted On

2020-01-23