Mutagenetix > Incidental Mutations

Incidental Mutation 'R3950:Zfp280d'

307871

Institutional Source

Beutler Lab

Gene Symbol

Zfp280d

Ensembl Gene

ENSMUSG00000038535

Gene Name

zinc finger protein 280D

Synonyms

Suhw4

MMRRC Submission

040930-MU

Accession Numbers

Ncbi RefSeq: NM_146224.4; MGI:2384583

Is this an essential gene?

Possibly non essential (E-score: 0.345) question?

Stock #

R3950 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72274860-72363777 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 72296019 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 16 (Q16H)

Ref Sequence

ENSEMBL: ENSMUSP00000139250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098576] [ENSMUST00000183410] [ENSMUST00000183801] [ENSMUST00000184036] [ENSMUST00000184053] [ENSMUST00000184399] [ENSMUST00000184517]

AlphaFold

Q68FE8

Predicted Effect

probably benign
Transcript: ENSMUST00000098576
AA Change: Q16H

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000096175
Gene: ENSMUSG00000038535
AA Change: Q16H

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
low complexity region	43	55	N/A	INTRINSIC
Pfam:DUF4195	57	241	6.8e-82	PFAM
ZnF_C2H2	252	272	1.24e2	SMART
ZnF_C2H2	333	355	6.92e0	SMART
ZnF_C2H2	370	393	3.99e0	SMART
ZnF_C2H2	400	423	1.08e-1	SMART
ZnF_C2H2	430	453	3.52e-1	SMART
ZnF_C2H2	459	481	2.41e1	SMART
ZnF_C2H2	487	509	3.38e1	SMART
low complexity region	539	561	N/A	INTRINSIC
low complexity region	591	611	N/A	INTRINSIC
ZnF_C2H2	656	679	1.23e1	SMART
ZnF_C2H2	702	726	1.34e2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183380

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183400

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183410
AA Change: Q16H

PolyPhen 2 Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000139250
Gene: ENSMUSG00000038535
AA Change: Q16H

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
low complexity region	43	55	N/A	INTRINSIC
Pfam:DUF4195	57	242	4.1e-98	PFAM
ZnF_C2H2	252	272	1.24e2	SMART
ZnF_C2H2	333	355	6.92e0	SMART
ZnF_C2H2	370	393	3.99e0	SMART
ZnF_C2H2	400	423	1.08e-1	SMART
ZnF_C2H2	430	453	3.52e-1	SMART
ZnF_C2H2	459	481	2.41e1	SMART
ZnF_C2H2	487	509	3.38e1	SMART
low complexity region	539	561	N/A	INTRINSIC
low complexity region	591	611	N/A	INTRINSIC
ZnF_C2H2	656	679	1.23e1	SMART
ZnF_C2H2	702	726	1.34e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183801
AA Change: Q16H

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000139091
Gene: ENSMUSG00000038535
AA Change: Q16H

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
low complexity region	43	55	N/A	INTRINSIC
Pfam:DUF4195	57	242	1.9e-98	PFAM
ZnF_C2H2	252	272	1.24e2	SMART
ZnF_C2H2	333	355	6.92e0	SMART
ZnF_C2H2	370	393	3.99e0	SMART
ZnF_C2H2	400	423	1.08e-1	SMART
ZnF_C2H2	430	453	3.52e-1	SMART
ZnF_C2H2	459	481	2.41e1	SMART
ZnF_C2H2	487	509	3.38e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184036

SMART Domains

Protein: ENSMUSP00000138857
Gene: ENSMUSG00000038535

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
low complexity region	18	30	N/A	INTRINSIC
Pfam:DUF4195	32	217	5.5e-98	PFAM
ZnF_C2H2	227	247	1.24e2	SMART
ZnF_C2H2	308	330	6.92e0	SMART
ZnF_C2H2	345	368	3.99e0	SMART
ZnF_C2H2	375	398	1.08e-1	SMART
ZnF_C2H2	405	428	3.52e-1	SMART
ZnF_C2H2	434	456	2.41e1	SMART
ZnF_C2H2	462	484	3.38e1	SMART
low complexity region	514	536	N/A	INTRINSIC
low complexity region	566	586	N/A	INTRINSIC
ZnF_C2H2	631	654	1.23e1	SMART
ZnF_C2H2	677	701	1.34e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184053
AA Change: Q16H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138848
Gene: ENSMUSG00000038535
AA Change: Q16H

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
low complexity region	43	55	N/A	INTRINSIC
Pfam:DUF4195	57	147	1e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184399
AA Change: Q16H

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000138902
Gene: ENSMUSG00000038535
AA Change: Q16H

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
low complexity region	43	55	N/A	INTRINSIC
Pfam:DUF4195	57	103	4.8e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000184517
AA Change: Q16H

PolyPhen 2 Score 0.470 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138970
Gene: ENSMUSG00000038535
AA Change: Q16H

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
low complexity region	43	55	N/A	INTRINSIC
Pfam:DUF4195	57	242	2.2e-98	PFAM
ZnF_C2H2	252	272	1.24e2	SMART
ZnF_C2H2	333	355	6.92e0	SMART
ZnF_C2H2	370	393	3.99e0	SMART
ZnF_C2H2	400	423	1.08e-1	SMART
ZnF_C2H2	430	453	3.52e-1	SMART
ZnF_C2H2	459	481	2.41e1	SMART
ZnF_C2H2	487	509	3.38e1	SMART
low complexity region	539	561	N/A	INTRINSIC
low complexity region	591	611	N/A	INTRINSIC
ZnF_C2H2	656	679	1.23e1	SMART
ZnF_C2H2	702	726	1.34e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184786

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

All alleles(100) : Targeted(2) Gene trapped(98)

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,664,403		probably null	Het
Ahnak2	A	T	12: 112,785,789	I186N	probably damaging	Het
Appbp2	A	G	11: 85,194,706	I458T	probably damaging	Het
Arhgef25	T	C	10: 127,185,144	Y291C	probably damaging	Het
Ate1	T	C	7: 130,467,292	Y415C	probably damaging	Het
B4galt4	G	T	16: 38,768,022	A72S	probably benign	Het
C3	T	C	17: 57,225,286	R178G	probably benign	Het
Cdh23	T	C	10: 60,657,326	Y3C	probably benign	Het
Col11a1	T	C	3: 114,121,445		probably null	Het
Col22a1	A	G	15: 71,977,358	F294L	possibly damaging	Het
Dera	A	G	6: 137,837,120	Y100C	probably damaging	Het
Dync2h1	A	T	9: 7,112,061	Y276*	probably null	Het
Eea1	A	T	10: 96,042,134	N1389I	probably damaging	Het
Epha4	A	T	1: 77,399,716	Y509N	probably damaging	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fezf1	T	A	6: 23,247,420	K219*	probably null	Het
Fsd1	G	A	17: 55,995,517		probably null	Het
Haspin	A	G	11: 73,136,395	Y623H	probably damaging	Het
Hsd3b1	C	T	3: 98,856,138	V56M	possibly damaging	Het
Hyou1	C	T	9: 44,385,227	T483I	probably damaging	Het
Kdm2a	A	G	19: 4,343,232	L365S	possibly damaging	Het
Kdm6b	G	T	11: 69,405,615	P609T	probably damaging	Het
Klhl18	T	A	9: 110,428,902	Y490F	probably damaging	Het
Ky	C	T	9: 102,542,428	Q545*	probably null	Het
L1td1	T	C	4: 98,737,353	L595P	probably benign	Het
Map3k20	T	G	2: 72,438,300	I550M	probably damaging	Het
Mug1	T	A	6: 121,878,530	V941E	probably damaging	Het
Ndst1	T	C	18: 60,697,139	N633S	probably benign	Het
Ninl	A	T	2: 150,952,488	I740K	possibly damaging	Het
Npepl1	A	G	2: 174,121,113	N431D	probably damaging	Het
Olfr1128	T	C	2: 87,545,065	T160A	probably damaging	Het
Pacs2	T	C	12: 113,061,113	S408P	probably damaging	Het
Pard6b	C	T	2: 168,099,194	T367I	probably damaging	Het
Pcdhga7	A	G	18: 37,716,515	E525G	probably damaging	Het
Pctp	A	G	11: 89,987,318	I130T	probably benign	Het
Pcx	C	T	19: 4,617,967	H506Y	probably benign	Het
Pdhx	A	G	2: 103,035,241	S199P	probably damaging	Het
Pdia2	C	A	17: 26,197,616		probably null	Het
Pif1	C	A	9: 65,591,834	N445K	probably damaging	Het
Prickle4	T	C	17: 47,688,582	K349E	probably benign	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Ptpdc1	A	T	13: 48,589,194	M173K	probably damaging	Het
Rb1	A	G	14: 73,262,662	L515P	probably damaging	Het
Rcvrn	A	G	11: 67,700,051	K154E	probably damaging	Het
Ros1	C	T	10: 52,066,388	V2059I	probably damaging	Het
Rtn4ip1	T	A	10: 43,909,897		probably null	Het
Sema5a	T	C	15: 32,689,338	Y1050H	probably damaging	Het
Slc25a28	C	T	19: 43,664,269	V318I	probably benign	Het
Srek1	G	A	13: 103,744,895	R408W	unknown	Het
Synrg	C	T	11: 83,989,815	T444I	probably damaging	Het
Ticrr	T	C	7: 79,682,069	L776S	probably damaging	Het
Tmem127	T	C	2: 127,248,657	L31P	probably damaging	Het
Tmprss15	T	A	16: 79,073,186	T190S	probably benign	Het
Trip10	T	A	17: 57,253,411		probably null	Het
Ttc6	A	G	12: 57,649,506	Y31C	probably damaging	Het
Unc80	A	T	1: 66,622,570	H1718L	possibly damaging	Het
Zbtb38	A	G	9: 96,687,546	F495S	probably damaging	Het
Zfp521	A	G	18: 13,846,346	S337P	probably damaging	Het
Zswim9	T	A	7: 13,261,577	T218S	possibly damaging	Het

Other mutations in Zfp280d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Zfp280d	APN	9	72322571	missense	probably damaging	1.00
IGL00708:Zfp280d	APN	9	72312135	missense	probably benign	0.19
IGL01333:Zfp280d	APN	9	72335114	splice site	probably benign
IGL01453:Zfp280d	APN	9	72322586	missense	possibly damaging	0.90
IGL02472:Zfp280d	APN	9	72301711	missense	probably damaging	1.00
IGL02583:Zfp280d	APN	9	72322445	splice site	probably benign
IGL02608:Zfp280d	APN	9	72307979	missense	probably damaging	0.98
IGL02675:Zfp280d	APN	9	72312222	missense	probably benign	0.33
IGL02676:Zfp280d	APN	9	72335074	missense	probably damaging	1.00
IGL02931:Zfp280d	APN	9	72296025	missense	probably benign	0.02
IGL03076:Zfp280d	APN	9	72312662	missense	probably damaging	0.99
R0017:Zfp280d	UTSW	9	72339010	critical splice acceptor site	probably null
R0017:Zfp280d	UTSW	9	72339010	critical splice acceptor site	probably null
R0288:Zfp280d	UTSW	9	72331339	nonsense	probably null
R0419:Zfp280d	UTSW	9	72312237	missense	probably benign	0.02
R0540:Zfp280d	UTSW	9	72307965	missense	probably damaging	0.97
R0628:Zfp280d	UTSW	9	72361948	missense	probably benign
R0722:Zfp280d	UTSW	9	72312101	missense	possibly damaging	0.63
R1055:Zfp280d	UTSW	9	72329167	splice site	probably null
R1786:Zfp280d	UTSW	9	72308005	missense	probably damaging	1.00
R1826:Zfp280d	UTSW	9	72298780	missense	probably damaging	1.00
R1962:Zfp280d	UTSW	9	72335080	nonsense	probably null
R2130:Zfp280d	UTSW	9	72308005	missense	probably damaging	1.00
R2132:Zfp280d	UTSW	9	72308005	missense	probably damaging	1.00
R2133:Zfp280d	UTSW	9	72308005	missense	probably damaging	1.00
R2143:Zfp280d	UTSW	9	72312729	missense	probably damaging	1.00
R2162:Zfp280d	UTSW	9	72298822	missense	probably damaging	1.00
R2266:Zfp280d	UTSW	9	72301770	splice site	probably benign
R2269:Zfp280d	UTSW	9	72301770	splice site	probably benign
R2278:Zfp280d	UTSW	9	72338773	nonsense	probably null
R2850:Zfp280d	UTSW	9	72312089	missense	probably benign	0.06
R3780:Zfp280d	UTSW	9	72322524	missense	probably damaging	1.00
R4330:Zfp280d	UTSW	9	72295979	missense	possibly damaging	0.86
R4716:Zfp280d	UTSW	9	72312665	missense	possibly damaging	0.94
R4876:Zfp280d	UTSW	9	72298858	splice site	probably benign
R4909:Zfp280d	UTSW	9	72331432	missense	probably damaging	1.00
R5214:Zfp280d	UTSW	9	72308113	unclassified	probably benign
R5518:Zfp280d	UTSW	9	72324135	missense	probably damaging	0.99
R5853:Zfp280d	UTSW	9	72330942	missense	probably benign	0.20
R5945:Zfp280d	UTSW	9	72362332	nonsense	probably null
R6033:Zfp280d	UTSW	9	72329137	missense	probably damaging	1.00
R6033:Zfp280d	UTSW	9	72329137	missense	probably damaging	1.00
R7043:Zfp280d	UTSW	9	72319257	missense	probably damaging	1.00
R7501:Zfp280d	UTSW	9	72361942	missense	possibly damaging	0.65
R7658:Zfp280d	UTSW	9	72324072	missense	probably damaging	1.00
R7667:Zfp280d	UTSW	9	72301965	missense	probably damaging	1.00
R7792:Zfp280d	UTSW	9	72331319	missense	probably damaging	1.00
R7826:Zfp280d	UTSW	9	72312671	missense	possibly damaging	0.68
R7964:Zfp280d	UTSW	9	72322458	missense	probably damaging	1.00
R8096:Zfp280d	UTSW	9	72319278	missense	probably damaging	1.00
R8188:Zfp280d	UTSW	9	72360333	missense	probably benign	0.01
R9210:Zfp280d	UTSW	9	72362507	makesense	probably null
R9212:Zfp280d	UTSW	9	72362507	makesense	probably null
R9435:Zfp280d	UTSW	9	72319317	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGTCACATGGTAAGCTTAAATACTT -3'
(R):5'- CTGACATAAACAGTAGCTATTTCTGTT -3'

Sequencing Primer
(F):5'- CATTACAGATGGTTGTGAGCCACC -3'
(R):5'- AAGATGGGGACCATCTCT -3'

Posted On

2015-04-17