Mutagenetix > Incidental Mutation

Incidental Mutation 'R5339:Zfp800'

423686

Institutional Source

Beutler Lab

Gene Symbol

Zfp800

Ensembl Gene

ENSMUSG00000039841

Gene Name

zinc finger protein 800

Synonyms

MMRRC Submission

042918-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.593) question?

Stock #

R5339 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28239926-28398004 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28256472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 39 (S39T)

Ref Sequence

ENSEMBL: ENSMUSP00000120392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035930] [ENSMUST00000115320] [ENSMUST00000115321] [ENSMUST00000123098] [ENSMUST00000155494]

AlphaFold

Q0VEE6

Predicted Effect

probably damaging
Transcript: ENSMUST00000035930
AA Change: S39T

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039222
Gene: ENSMUSG00000039841
AA Change: S39T

Domain	Start	End	E-Value	Type
ZnF_C2H2	69	89	8.18e1	SMART
low complexity region	203	217	N/A	INTRINSIC
ZnF_C2H2	231	254	3.83e-2	SMART
ZnF_C2H2	288	311	1.76e-1	SMART
ZnF_C2H2	359	382	1.76e-1	SMART
low complexity region	455	469	N/A	INTRINSIC
ZnF_C2H2	484	506	2.36e-2	SMART
ZnF_C2H2	517	540	5.14e-3	SMART
ZnF_C2H2	616	638	1.67e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115320
AA Change: S39T

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110975
Gene: ENSMUSG00000039841
AA Change: S39T

Domain	Start	End	E-Value	Type
ZnF_C2H2	69	89	8.18e1	SMART
low complexity region	203	217	N/A	INTRINSIC
ZnF_C2H2	231	254	3.83e-2	SMART
ZnF_C2H2	288	311	1.76e-1	SMART
ZnF_C2H2	359	382	1.76e-1	SMART
Pfam:zf-C2H2_assoc2	391	483	2.9e-38	PFAM
ZnF_C2H2	484	506	2.36e-2	SMART
ZnF_C2H2	517	540	5.14e-3	SMART
ZnF_C2H2	616	638	1.67e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115321
AA Change: S39T

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110976
Gene: ENSMUSG00000039841
AA Change: S39T

Domain	Start	End	E-Value	Type
ZnF_C2H2	69	89	8.18e1	SMART
low complexity region	203	217	N/A	INTRINSIC
ZnF_C2H2	231	254	3.83e-2	SMART
ZnF_C2H2	288	311	1.76e-1	SMART
ZnF_C2H2	359	382	1.76e-1	SMART
low complexity region	455	469	N/A	INTRINSIC
ZnF_C2H2	484	506	2.36e-2	SMART
ZnF_C2H2	517	540	5.14e-3	SMART
ZnF_C2H2	616	638	1.67e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000123098
AA Change: S39T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114604
Gene: ENSMUSG00000039841
AA Change: S39T

Domain	Start	End	E-Value	Type
ZnF_C2H2	69	89	8.18e1	SMART
low complexity region	203	217	N/A	INTRINSIC
ZnF_C2H2	231	254	3.83e-2	SMART
ZnF_C2H2	288	311	1.76e-1	SMART
ZnF_C2H2	359	382	1.76e-1	SMART
low complexity region	455	469	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143099

SMART Domains

Protein: ENSMUSP00000133161
Gene: ENSMUSG00000043340

Domain	Start	End	E-Value	Type
low complexity region	34	48	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000155494
AA Change: S39T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120392
Gene: ENSMUSG00000039841
AA Change: S39T

Domain	Start	End	E-Value	Type
Pfam:zf-C2H2_6	68	94	1.9e-10	PFAM

Meta Mutation Damage Score

0.0867

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (57/59)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	C	T	10: 10,318,350 (GRCm39)	G158E	probably damaging	Het
Adgrl2	C	T	3: 148,523,480 (GRCm39)	R1256H	probably benign	Het
C3	C	A	17: 57,531,308 (GRCm39)	V329F	probably damaging	Het
Ccdc50	C	T	16: 27,236,055 (GRCm39)	H130Y	probably damaging	Het
Chrna7	A	G	7: 62,749,055 (GRCm39)	S476P	probably damaging	Het
Crtc1	A	T	8: 70,850,383 (GRCm39)		probably benign	Het
Dnah12	A	G	14: 26,536,494 (GRCm39)	T2137A	possibly damaging	Het
Ehd3	G	A	17: 74,135,202 (GRCm39)	M359I	possibly damaging	Het
Fastkd3	G	A	13: 68,738,283 (GRCm39)	G611R	probably damaging	Het
Foxa2	T	A	2: 147,886,354 (GRCm39)	S154C	probably damaging	Het
Gfm2	T	C	13: 97,311,548 (GRCm39)	I733T	probably benign	Het
Gm1968	T	C	16: 29,781,077 (GRCm39)		noncoding transcript	Het
Gmfg-ps	T	C	6: 4,893,401 (GRCm39)		noncoding transcript	Het
Gzmd	A	T	14: 56,368,140 (GRCm39)	N106K	possibly damaging	Het
Huwe1	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	X: 150,690,044 (GRCm39)		probably benign	Het
Ipo5	T	C	14: 121,181,122 (GRCm39)	W883R	probably damaging	Het
Itpr1	T	A	6: 108,370,922 (GRCm39)	V1063D	probably damaging	Het
Kansl3	A	C	1: 36,406,802 (GRCm39)		probably benign	Het
Klkb1	C	A	8: 45,723,748 (GRCm39)	V556F	possibly damaging	Het
Krtap14	C	A	16: 88,622,747 (GRCm39)	R77S	probably benign	Het
Leng8	T	A	7: 4,148,285 (GRCm39)	Y686N	possibly damaging	Het
Mctp1	C	A	13: 76,973,825 (GRCm39)		probably benign	Het
Moxd2	T	C	6: 40,862,354 (GRCm39)	Y155C	probably damaging	Het
Ofcc1	A	G	13: 40,241,321 (GRCm39)	V729A	probably benign	Het
Or2w6	G	A	13: 21,843,404 (GRCm39)	L30F	probably benign	Het
Or4k1	C	A	14: 50,377,759 (GRCm39)	M112I	probably damaging	Het
Or7g27	G	A	9: 19,250,455 (GRCm39)	G233E	possibly damaging	Het
Or8g30	A	T	9: 39,230,599 (GRCm39)	F104I	possibly damaging	Het
Or8g37	T	A	9: 39,731,229 (GRCm39)	M98K	probably damaging	Het
Pdia4	C	T	6: 47,773,619 (GRCm39)	A577T	possibly damaging	Het
Pex5	A	T	6: 124,374,963 (GRCm39)	S629T	probably benign	Het
Pnpla7	T	C	2: 24,892,949 (GRCm39)	S146P	probably benign	Het
Prune2	G	A	19: 17,098,236 (GRCm39)	E1247K	probably damaging	Het
Reg3a	A	G	6: 78,360,522 (GRCm39)		probably null	Het
Snx8	G	A	5: 140,343,905 (GRCm39)	R78C	probably damaging	Het
Sstr5	T	C	17: 25,710,173 (GRCm39)	E352G	probably benign	Het
Svep1	T	C	4: 58,121,892 (GRCm39)	Y767C	possibly damaging	Het
Tbx15	G	A	3: 99,223,600 (GRCm39)	V263M	possibly damaging	Het
Tdrd9	T	C	12: 111,993,556 (GRCm39)	Y695H	probably damaging	Het
Tep1	A	T	14: 51,082,031 (GRCm39)	L1174Q	probably damaging	Het
Tg	T	A	15: 66,549,942 (GRCm39)	Y235N	probably damaging	Het
Tha1	C	A	11: 117,761,908 (GRCm39)	R111L	possibly damaging	Het
Trim17	C	T	11: 58,845,336 (GRCm39)		probably null	Het
Trim72	A	G	7: 127,609,505 (GRCm39)	T436A	probably benign	Het
Uba7	C	T	9: 107,856,065 (GRCm39)	A480V	probably damaging	Het
Ublcp1	A	T	11: 44,346,435 (GRCm39)	S313T	probably benign	Het
Ubqlnl	A	G	7: 103,798,972 (GRCm39)	V175A	probably benign	Het
Vps26a	A	G	10: 62,294,746 (GRCm39)	L276P	probably damaging	Het
Zdhhc21	C	T	4: 82,756,550 (GRCm39)	G110S	probably damaging	Het
Zfp236	T	C	18: 82,642,491 (GRCm39)	E1133G	probably damaging	Het

Other mutations in Zfp800

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Zfp800	APN	6	28,243,037 (GRCm39)	missense	probably benign
IGL01446:Zfp800	APN	6	28,242,983 (GRCm39)	missense	possibly damaging	0.87
IGL01462:Zfp800	APN	6	28,242,983 (GRCm39)	missense	possibly damaging	0.87
R0195:Zfp800	UTSW	6	28,243,846 (GRCm39)	missense	probably damaging	0.99
R1942:Zfp800	UTSW	6	28,243,272 (GRCm39)	missense	probably benign	0.00
R4204:Zfp800	UTSW	6	28,243,180 (GRCm39)	missense	probably benign
R4981:Zfp800	UTSW	6	28,247,190 (GRCm39)	missense	probably damaging	1.00
R5281:Zfp800	UTSW	6	28,243,165 (GRCm39)	missense	probably benign	0.05
R5391:Zfp800	UTSW	6	28,242,992 (GRCm39)	missense	probably damaging	0.97
R5614:Zfp800	UTSW	6	28,243,135 (GRCm39)	missense	probably damaging	1.00
R5665:Zfp800	UTSW	6	28,244,512 (GRCm39)	missense	probably null	0.10
R6349:Zfp800	UTSW	6	28,244,601 (GRCm39)	nonsense	probably null
R6458:Zfp800	UTSW	6	28,244,215 (GRCm39)	missense	probably damaging	1.00
R7219:Zfp800	UTSW	6	28,243,662 (GRCm39)	missense	probably benign	0.00
R7263:Zfp800	UTSW	6	28,243,662 (GRCm39)	missense	probably benign	0.00
R7420:Zfp800	UTSW	6	28,243,718 (GRCm39)	missense	probably benign
R7457:Zfp800	UTSW	6	28,244,228 (GRCm39)	missense	probably benign	0.00
R7582:Zfp800	UTSW	6	28,244,089 (GRCm39)	missense	probably damaging	1.00
R7597:Zfp800	UTSW	6	28,260,764 (GRCm39)	missense	probably damaging	1.00
R7685:Zfp800	UTSW	6	28,244,193 (GRCm39)	missense	probably damaging	1.00
R8321:Zfp800	UTSW	6	28,242,992 (GRCm39)	missense	probably damaging	1.00
R8757:Zfp800	UTSW	6	28,244,270 (GRCm39)	missense	probably benign	0.14
R9076:Zfp800	UTSW	6	28,243,215 (GRCm39)	missense	probably benign	0.01
R9183:Zfp800	UTSW	6	28,243,172 (GRCm39)	missense	probably benign	0.00
R9372:Zfp800	UTSW	6	28,256,433 (GRCm39)	missense	possibly damaging	0.48
R9411:Zfp800	UTSW	6	28,243,430 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- CTGGAGATACTGAAAACTCCAAAG -3'
(R):5'- CCTACTAACGAGCCTTGATTGAGTC -3'

Sequencing Primer
(F):5'- CAAAGTTTGGTAGGAGACAAGTC -3'
(R):5'- CGAGCCTTGATTGAGTCTTTAATATG -3'

Posted On

2016-08-04