Mutagenetix > Incidental Mutation

Incidental Mutation 'R0502:Zfp78'

47196

Institutional Source

Beutler Lab

Gene Symbol

Zfp78

Ensembl Gene

ENSMUSG00000055150

Gene Name

zinc finger protein 78

Synonyms

KRAB12, Zfp77

MMRRC Submission

038697-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R0502 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6366279-6385604 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6376157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 22 (D22G)

Ref Sequence

ENSEMBL: ENSMUSP00000146611 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086323] [ENSMUST00000108559] [ENSMUST00000207314] [ENSMUST00000207347] [ENSMUST00000208030] [ENSMUST00000208390] [ENSMUST00000208763]

AlphaFold

Q5U406

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086323
AA Change: D22G

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083503
Gene: ENSMUSG00000055150
AA Change: D22G

Domain	Start	End	E-Value	Type
KRAB	14	74	1.07e-23	SMART
low complexity region	148	159	N/A	INTRINSIC
ZnF_C2H2	173	195	3.39e-3	SMART
ZnF_C2H2	201	223	2.36e-2	SMART
ZnF_C2H2	229	251	3.63e-3	SMART
ZnF_C2H2	257	279	3.89e-3	SMART
ZnF_C2H2	285	307	3.95e-4	SMART
ZnF_C2H2	313	335	1.69e-3	SMART
ZnF_C2H2	341	363	5.21e-4	SMART
ZnF_C2H2	369	391	1.38e-3	SMART
ZnF_C2H2	397	419	9.88e-5	SMART
ZnF_C2H2	425	447	7.67e-2	SMART
ZnF_C2H2	453	475	6.32e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108559
AA Change: D22G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104199
Gene: ENSMUSG00000055150
AA Change: D22G

Domain	Start	End	E-Value	Type
KRAB	14	74	3.12e-34	SMART
low complexity region	180	191	N/A	INTRINSIC
ZnF_C2H2	205	227	3.39e-3	SMART
ZnF_C2H2	233	255	2.36e-2	SMART
ZnF_C2H2	261	283	3.63e-3	SMART
ZnF_C2H2	289	311	3.89e-3	SMART
ZnF_C2H2	317	339	3.95e-4	SMART
ZnF_C2H2	345	367	1.69e-3	SMART
ZnF_C2H2	373	395	5.21e-4	SMART
ZnF_C2H2	401	423	1.38e-3	SMART
ZnF_C2H2	429	451	9.88e-5	SMART
ZnF_C2H2	457	479	7.67e-2	SMART
ZnF_C2H2	485	507	6.32e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207314
AA Change: D22G

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000207347
AA Change: D22G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208030
AA Change: D22G

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208390
AA Change: D22G

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208763
AA Change: D22G

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,838,322 (GRCm39)	H755R	possibly damaging	Het
Ano1	A	G	7: 144,150,952 (GRCm39)	L821P	probably damaging	Het
Apol10b	T	A	15: 77,476,349 (GRCm39)		probably benign	Het
Atp2c2	A	G	8: 120,461,316 (GRCm39)	E279G	probably null	Het
Ccar2	A	G	14: 70,378,431 (GRCm39)	S625P	probably benign	Het
Ccdc110	A	G	8: 46,387,761 (GRCm39)		probably benign	Het
Cep350	A	T	1: 155,776,629 (GRCm39)		probably null	Het
Chd3	A	G	11: 69,244,931 (GRCm39)	V1203A	probably damaging	Het
Col24a1	A	G	3: 145,251,071 (GRCm39)		probably benign	Het
Col6a6	A	T	9: 105,644,550 (GRCm39)	M1246K	probably benign	Het
Crot	A	G	5: 9,026,075 (GRCm39)	V304A	possibly damaging	Het
Dapk1	T	A	13: 60,878,662 (GRCm39)		probably null	Het
Dicer1	A	T	12: 104,671,319 (GRCm39)	S984T	probably damaging	Het
Dmbt1	G	A	7: 130,699,403 (GRCm39)		probably null	Het
Dnah7b	A	T	1: 46,258,704 (GRCm39)	E1965V	probably damaging	Het
Dpp4	G	T	2: 62,195,332 (GRCm39)	N315K	probably damaging	Het
Eeig2	G	A	3: 108,900,001 (GRCm39)	R116C	probably damaging	Het
Fat4	T	A	3: 39,057,073 (GRCm39)	S4256R	probably damaging	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Gpatch4	A	G	3: 87,962,672 (GRCm39)	D295G	probably benign	Het
Gpbar1	A	T	1: 74,318,551 (GRCm39)	I265F	probably benign	Het
Gria1	T	G	11: 57,080,542 (GRCm39)	V175G	probably damaging	Het
Hacl1	A	T	14: 31,344,941 (GRCm39)		probably benign	Het
Hnrnpc	A	G	14: 52,312,629 (GRCm39)		probably benign	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Ifnar1	T	A	16: 91,298,639 (GRCm39)	C419S	probably damaging	Het
Irx4	T	A	13: 73,414,703 (GRCm39)		probably null	Het
Itga2	T	G	13: 114,982,392 (GRCm39)	N1038H	probably benign	Het
Kif16b	C	T	2: 142,554,075 (GRCm39)	D908N	probably benign	Het
Lamc1	A	G	1: 153,122,678 (GRCm39)		probably benign	Het
Lrig3	A	G	10: 125,844,605 (GRCm39)	T690A	probably damaging	Het
Lrp2	T	C	2: 69,341,361 (GRCm39)	K940E	probably damaging	Het
Macf1	A	G	4: 123,363,608 (GRCm39)	S1775P	probably damaging	Het
Mrps27	G	T	13: 99,546,303 (GRCm39)		probably benign	Het
Ncam1	A	G	9: 49,481,118 (GRCm39)		probably benign	Het
Nopchap1	A	G	10: 83,197,920 (GRCm39)	D42G	probably damaging	Het
Or2z2	T	C	11: 58,346,140 (GRCm39)	I212V	possibly damaging	Het
Or51a5	A	T	7: 102,771,643 (GRCm39)	M112K	possibly damaging	Het
Pbrm1	T	G	14: 30,786,777 (GRCm39)	D631E	probably benign	Het
Pdc	A	T	1: 150,204,165 (GRCm39)		probably benign	Het
Pkd1	T	C	17: 24,793,766 (GRCm39)	S1818P	probably damaging	Het
Ptpru	T	C	4: 131,520,954 (GRCm39)	N784S	probably benign	Het
Rab35	G	A	5: 115,783,723 (GRCm39)	R170Q	probably benign	Het
Rerg	A	T	6: 137,033,305 (GRCm39)	C123*	probably null	Het
Ros1	A	G	10: 52,070,919 (GRCm39)		probably benign	Het
Siglece	A	G	7: 43,309,355 (GRCm39)	Y68H	probably damaging	Het
Slc28a2	T	A	2: 122,288,762 (GRCm39)		probably null	Het
Slc4a11	T	C	2: 130,530,077 (GRCm39)	K234E	probably damaging	Het
Sqor	C	T	2: 122,639,970 (GRCm39)	P158S	probably benign	Het
Tcerg1	C	T	18: 42,656,021 (GRCm39)	P110S	unknown	Het
Tm6sf2	T	A	8: 70,530,591 (GRCm39)	Y224N	probably damaging	Het
Tmem39b	A	C	4: 129,580,779 (GRCm39)	Y238D	possibly damaging	Het
Ttll10	T	C	4: 156,132,005 (GRCm39)		probably benign	Het
Ubap2l	A	T	3: 89,916,520 (GRCm39)	L898Q	probably damaging	Het
Uggt1	A	T	1: 36,199,027 (GRCm39)	V1207E	probably damaging	Het
Uhrf2	A	G	19: 30,070,176 (GRCm39)	D775G	probably damaging	Het
Utp25	A	T	1: 192,797,136 (GRCm39)		probably benign	Het
Vmn1r196	G	A	13: 22,477,557 (GRCm39)	M65I	probably benign	Het
Vmn1r87	T	G	7: 12,865,583 (GRCm39)	T235P	probably damaging	Het
Vmn2r96	T	A	17: 18,804,262 (GRCm39)	M504K	probably benign	Het
Zdbf2	A	T	1: 63,344,449 (GRCm39)	I943F	possibly damaging	Het
Zfp827	C	T	8: 79,905,706 (GRCm39)		probably null	Het
Zfyve9	A	T	4: 108,576,961 (GRCm39)	L40*	probably null	Het

Other mutations in Zfp78

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:Zfp78	APN	7	6,378,587 (GRCm39)	missense	possibly damaging	0.90
R0704:Zfp78	UTSW	7	6,382,251 (GRCm39)	missense	probably damaging	1.00
R1035:Zfp78	UTSW	7	6,381,660 (GRCm39)	missense	probably damaging	1.00
R1402:Zfp78	UTSW	7	6,381,618 (GRCm39)	missense	probably damaging	1.00
R1402:Zfp78	UTSW	7	6,381,618 (GRCm39)	missense	probably damaging	1.00
R1908:Zfp78	UTSW	7	6,381,897 (GRCm39)	missense	probably damaging	0.97
R1955:Zfp78	UTSW	7	6,381,558 (GRCm39)	missense	probably benign	0.00
R2004:Zfp78	UTSW	7	6,382,074 (GRCm39)	missense	probably damaging	1.00
R2025:Zfp78	UTSW	7	6,378,513 (GRCm39)	splice site	probably null
R2357:Zfp78	UTSW	7	6,382,056 (GRCm39)	missense	probably damaging	1.00
R5503:Zfp78	UTSW	7	6,381,528 (GRCm39)	missense	probably benign
R6742:Zfp78	UTSW	7	6,381,277 (GRCm39)	missense	probably damaging	0.97
R6996:Zfp78	UTSW	7	6,381,764 (GRCm39)	missense	probably benign	0.38
R7944:Zfp78	UTSW	7	6,381,589 (GRCm39)	missense	possibly damaging	0.53
R7949:Zfp78	UTSW	7	6,382,365 (GRCm39)	missense	possibly damaging	0.89
R8186:Zfp78	UTSW	7	6,376,228 (GRCm39)	missense	probably damaging	1.00
R8272:Zfp78	UTSW	7	6,376,213 (GRCm39)	missense	probably benign	0.01
R8429:Zfp78	UTSW	7	6,381,492 (GRCm39)	missense	probably benign	0.05
R8675:Zfp78	UTSW	7	6,381,280 (GRCm39)	missense	probably benign	0.16
R8959:Zfp78	UTSW	7	6,382,380 (GRCm39)	missense	probably damaging	0.97
R9184:Zfp78	UTSW	7	6,382,300 (GRCm39)	missense	probably damaging	0.96
R9289:Zfp78	UTSW	7	6,381,367 (GRCm39)	missense	probably benign	0.03
R9343:Zfp78	UTSW	7	6,381,942 (GRCm39)	missense	probably damaging	1.00
R9364:Zfp78	UTSW	7	6,382,354 (GRCm39)	missense	probably benign	0.04
R9406:Zfp78	UTSW	7	6,382,182 (GRCm39)	missense	probably benign	0.03
R9564:Zfp78	UTSW	7	6,381,390 (GRCm39)	missense	probably benign	0.20
R9615:Zfp78	UTSW	7	6,382,074 (GRCm39)	missense	probably damaging	1.00
R9616:Zfp78	UTSW	7	6,382,078 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TGGCTTTAAGCTCCTGGACAGAAAC -3'
(R):5'- AGCCTTTCCCCTCAGAGGTGTAAC -3'

Sequencing Primer
(F):5'- atccctgtcccactccc -3'
(R):5'- TGCAGGTCCAATTGCCTAAAG -3'

Posted On

2013-06-12