Mutagenetix > Incidental Mutations

Incidental Mutation 'R5869:Zfp808'

454349

Institutional Source

Beutler Lab

Gene Symbol

Zfp808

Ensembl Gene

ENSMUSG00000074867

Gene Name

zinc finger protein 808

Synonyms

Gm7036

MMRRC Submission

044077-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R5869 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62129886-62236144 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62171255 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 99 (H99Q)

Ref Sequence

ENSEMBL: ENSMUSP00000097048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099449] [ENSMUST00000221772]

AlphaFold

B8JJZ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000099449
AA Change: H99Q

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

SMART Domains

Protein: ENSMUSP00000097048
Gene: ENSMUSG00000074867
AA Change: H99Q

Domain	Start	End	E-Value	Type
KRAB	4	66	2.1e-17	SMART
ZnF_C2H2	133	155	2.4e-3	SMART
ZnF_C2H2	161	183	8.34e-3	SMART
ZnF_C2H2	189	211	2.75e-3	SMART
ZnF_C2H2	217	239	1.98e-4	SMART
ZnF_C2H2	245	267	3.21e-4	SMART
ZnF_C2H2	273	295	2.43e-4	SMART
ZnF_C2H2	301	323	8.6e-5	SMART
ZnF_C2H2	329	351	4.54e-4	SMART
ZnF_C2H2	357	379	9.22e-5	SMART
ZnF_C2H2	385	407	8.22e-2	SMART
ZnF_C2H2	413	435	1.56e-2	SMART
ZnF_C2H2	441	463	5.99e-4	SMART
ZnF_C2H2	469	491	2.79e-4	SMART
ZnF_C2H2	497	519	4.54e-4	SMART
ZnF_C2H2	525	547	1.95e-3	SMART
ZnF_C2H2	553	575	4.24e-4	SMART
ZnF_C2H2	581	603	2.27e-4	SMART
ZnF_C2H2	609	631	2.27e-4	SMART
ZnF_C2H2	637	659	9.08e-4	SMART
ZnF_C2H2	665	687	1.4e-4	SMART
ZnF_C2H2	693	715	4.24e-4	SMART
ZnF_C2H2	721	743	1.26e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221542

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221772
AA Change: I79K

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222809

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222947

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223094

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

93% (68/73)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,325,616		probably benign	Het
Arsk	T	C	13: 76,091,784	E100G	probably benign	Het
Ascc3	C	T	10: 50,842,183	R1991*	probably null	Het
Aspscr1	T	C	11: 120,688,920	I31T	possibly damaging	Het
Asz1	T	C	6: 18,074,940		probably benign	Het
Calm5	T	A	13: 3,854,321		probably benign	Het
Car5a	G	A	8: 121,916,380	T295I	probably benign	Het
Ccdc174	T	A	6: 91,885,418		probably benign	Het
Celsr2	G	A	3: 108,413,909	A529V	probably damaging	Het
Cep192	A	G	18: 67,815,864	D252G	probably benign	Het
Clcnka	A	G	4: 141,394,965	F217L	probably benign	Het
Cnot3	A	T	7: 3,644,930		probably benign	Het
Coro1c	A	G	5: 113,850,846		probably benign	Het
Cstf3	A	G	2: 104,659,240		probably null	Het
Dcdc2a	C	T	13: 25,107,730	P233S	probably benign	Het
Ddx55	A	G	5: 124,568,682	T581A	probably benign	Het
Exo1	T	C	1: 175,901,283	S638P	possibly damaging	Het
Fam135a	T	C	1: 24,029,430	E616G	possibly damaging	Het
Fignl2	T	C	15: 101,053,280	S374G	unknown	Het
Gm4799	A	T	10: 82,954,449		noncoding transcript	Het
Hectd4	T	C	5: 121,343,225		probably null	Het
Ighv1-76	T	C	12: 115,848,038	E65G	probably damaging	Het
Igsf9b	C	A	9: 27,323,235	H465Q	probably benign	Het
Itga9	A	G	9: 118,663,889	D284G	probably damaging	Het
Itpr1	T	C	6: 108,473,529	S1940P	probably benign	Het
Kcnb1	A	G	2: 167,188,071	S185P	probably benign	Het
Kif20a	G	A	18: 34,632,415	A822T	probably benign	Het
Krt1	A	T	15: 101,850,131	F199L	probably damaging	Het
Lpin2	A	G	17: 71,232,276		probably benign	Het
Lrp1b	A	C	2: 41,004,603	D2204E	probably damaging	Het
Mier3	T	A	13: 111,714,850	N427K	probably damaging	Het
Mmp12	GTAATAATAATAATAATAAT	GTAATAATAATAATAAT	9: 7,348,446		probably benign	Het
Mroh3	T	A	1: 136,186,123	M643L	probably benign	Het
Myh11	A	G	16: 14,230,800	S548P	probably damaging	Het
Nat8f6	A	C	6: 85,808,523	L215V	possibly damaging	Het
Nlrp3	G	A	11: 59,548,134	R179Q	probably damaging	Het
Nup88	T	C	11: 70,969,671	E94G	probably benign	Het
Pias1	A	T	9: 62,912,766	D306E	probably benign	Het
Pick1	A	G	15: 79,248,895	D385G	probably benign	Het
Pitx3	A	T	19: 46,137,296		probably benign	Het
Plpp3	T	A	4: 105,194,962		probably null	Het
Prlhr	C	A	19: 60,467,621	R169L	probably damaging	Het
Ptprf	A	C	4: 118,210,382	M1872R	probably damaging	Het
Ptprh	T	C	7: 4,601,940	D35G	probably benign	Het
Rnf130	A	G	11: 50,085,815		probably null	Het
Rnf17	A	C	14: 56,505,988	E1337A	possibly damaging	Het
Sdk2	A	G	11: 113,851,882	Y734H	probably damaging	Het
Slc25a10	C	T	11: 120,498,117	T269I	probably damaging	Het
Slc4a11	A	C	2: 130,684,459	V855G	probably benign	Het
Slc5a5	C	A	8: 70,892,330	R111L	probably damaging	Het
Spg20	A	T	3: 55,135,510	M616L	probably benign	Het
Tmem229a	T	C	6: 24,954,687	D356G	probably damaging	Het
Tmem30c	A	G	16: 57,266,562	S293P	probably damaging	Het
Tnfrsf14	C	A	4: 154,926,598		probably null	Het
Tnfrsf19	C	T	14: 60,971,178	R298H	possibly damaging	Het
Ttc21a	A	G	9: 119,958,792	K809E	probably benign	Het
Ttn	G	A	2: 76,750,209	P23447S	probably damaging	Het
Uap1	T	A	1: 170,151,138		probably null	Het
Wdr82	A	G	9: 106,185,304	Q252R	probably benign	Het
Zfp523	T	C	17: 28,194,993	I34T	probably benign	Het

Other mutations in Zfp808

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01609:Zfp808	APN	13	62173209	missense	probably damaging	0.96
IGL02517:Zfp808	APN	13	62173218	makesense	probably null
IGL02809:Zfp808	APN	13	62173180	missense	probably benign	0.00
IGL02882:Zfp808	APN	13	62173180	missense	probably benign	0.00
IGL02941:Zfp808	APN	13	62173130	missense	possibly damaging	0.82
IGL03184:Zfp808	APN	13	62169567	missense	possibly damaging	0.90
LCD18:Zfp808	UTSW	13	62166651	intron	probably benign
R0387:Zfp808	UTSW	13	62169478	missense	probably damaging	1.00
R0472:Zfp808	UTSW	13	62172306	missense	probably damaging	1.00
R0544:Zfp808	UTSW	13	62169434	splice site	probably benign
R0635:Zfp808	UTSW	13	62172419	missense	probably damaging	1.00
R0981:Zfp808	UTSW	13	62171673	missense	possibly damaging	0.47
R1446:Zfp808	UTSW	13	62173007	missense	probably damaging	1.00
R1569:Zfp808	UTSW	13	62172900	nonsense	probably null
R1573:Zfp808	UTSW	13	62171497	missense	possibly damaging	0.52
R1761:Zfp808	UTSW	13	62171646	missense	possibly damaging	0.71
R1796:Zfp808	UTSW	13	62171856	missense	probably damaging	1.00
R1993:Zfp808	UTSW	13	62172907	missense	probably benign	0.10
R2656:Zfp808	UTSW	13	62172852	missense	possibly damaging	0.63
R2938:Zfp808	UTSW	13	62171218	missense	probably benign
R3027:Zfp808	UTSW	13	62171590	missense	probably benign	0.33
R3777:Zfp808	UTSW	13	62171903	missense	probably damaging	0.97
R3779:Zfp808	UTSW	13	62171903	missense	probably damaging	0.97
R3801:Zfp808	UTSW	13	62172083	missense	probably damaging	1.00
R3802:Zfp808	UTSW	13	62172083	missense	probably damaging	1.00
R3804:Zfp808	UTSW	13	62172083	missense	probably damaging	1.00
R4024:Zfp808	UTSW	13	62171730	missense	possibly damaging	0.71
R4741:Zfp808	UTSW	13	62171949	missense	probably damaging	1.00
R4791:Zfp808	UTSW	13	62171231	missense	probably damaging	0.97
R4809:Zfp808	UTSW	13	62171292	nonsense	probably null
R4907:Zfp808	UTSW	13	62171473	missense	possibly damaging	0.71
R5056:Zfp808	UTSW	13	62172630	missense	probably damaging	1.00
R5760:Zfp808	UTSW	13	62171926	missense	probably damaging	1.00
R6230:Zfp808	UTSW	13	62172322	missense	probably benign	0.19
R6372:Zfp808	UTSW	13	62172477	missense	probably damaging	1.00
R6545:Zfp808	UTSW	13	62171895	missense	probably benign	0.02
R6620:Zfp808	UTSW	13	62172824	missense	probably benign	0.08
R6622:Zfp808	UTSW	13	62171832	missense	possibly damaging	0.90
R6813:Zfp808	UTSW	13	62173035	missense	probably damaging	0.99
R6920:Zfp808	UTSW	13	62173168	missense	probably benign	0.05
R7511:Zfp808	UTSW	13	62172823	missense	probably benign
R7666:Zfp808	UTSW	13	62171411	missense	probably benign
R7747:Zfp808	UTSW	13	62171505	missense	probably benign	0.39
R7763:Zfp808	UTSW	13	62172664	missense	probably benign	0.28
R7779:Zfp808	UTSW	13	62172757	missense	possibly damaging	0.68
R8147:Zfp808	UTSW	13	62173120	missense	probably damaging	1.00
R8182:Zfp808	UTSW	13	62171707	missense	probably damaging	0.96
R8260:Zfp808	UTSW	13	62172738	missense	probably benign	0.01
R8434:Zfp808	UTSW	13	62172112	missense	probably damaging	1.00
R8822:Zfp808	UTSW	13	62173055	missense	probably damaging	1.00
R9330:Zfp808	UTSW	13	62172160	missense	probably benign	0.00
RF005:Zfp808	UTSW	13	62171299	missense	probably benign	0.14
RF024:Zfp808	UTSW	13	62171299	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- CTCAGCAGTTAAGAGCACCAAA -3'
(R):5'- CACAGATTACATTTGAAGGGTTTCT -3'

Sequencing Primer
(F):5'- GACAGGACAGCTACAGTGTACTTAC -3'
(R):5'- ACATATGAAGGGTTGCTCTACG -3'

Posted On

2017-02-10