Mutagenetix > Incidental Mutation

Incidental Mutation 'R1786:Zfp280d'

202825

Institutional Source

Beutler Lab

Gene Symbol

Zfp280d

Ensembl Gene

ENSMUSG00000038535

Gene Name

zinc finger protein 280D

Synonyms

Suhw4

MMRRC Submission

039817-MU

Accession Numbers

Ncbi RefSeq: NM_146224.4; MGI:2384583

Essential gene?

Possibly non essential (E-score: 0.299) question?

Stock #

R1786 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72274860-72363777 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72308005 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 133 (F133L)

Ref Sequence

ENSEMBL: ENSMUSP00000138857 (fasta)

Gene Model

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

AlphaFold

Q68FE8

Predicted Effect

probably damaging
Transcript: ENSMUST00000098576
AA Change: F158L

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

SMART Domains

Protein: ENSMUSP00000096175
Gene: ENSMUSG00000038535
AA Change: F158L

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

probably benign
Transcript: ENSMUST00000183410
AA Change: F158L

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000139250
Gene: ENSMUSG00000038535
AA Change: F158L

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

noncoding transcript
Transcript: ENSMUST00000183545

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183608

Predicted Effect

probably benign
Transcript: ENSMUST00000183801
AA Change: F158L

PolyPhen 2 Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000139091
Gene: ENSMUSG00000038535
AA Change: F158L

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 damaging
Transcript: ENSMUST00000184036
AA Change: F133L

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

SMART Domains

Protein: ENSMUSP00000138857
Gene: ENSMUSG00000038535
AA Change: F133L

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

SMART Domains

Protein: ENSMUSP00000138848
Gene: ENSMUSG00000038535

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

noncoding transcript
Transcript: ENSMUST00000184248

Predicted Effect

probably benign
Transcript: ENSMUST00000184399

SMART Domains

Protein: ENSMUSP00000138902
Gene: ENSMUSG00000038535

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

probably benign
Transcript: ENSMUST00000184517
AA Change: F158L

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000138970
Gene: ENSMUSG00000038535
AA Change: F158L

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 damaging
Transcript: ENSMUST00000184786
AA Change: F128L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000185020

Meta Mutation Damage Score

0.0714

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

97% (98/101)

Allele List at MGI

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

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	A	13: 63,210,149	C656S	probably benign	Het
9030624J02Rik	T	C	7: 118,794,575	Y516H	probably damaging	Het
A2ml1	T	A	6: 128,576,260	N178I	probably damaging	Het
Abcc4	G	A	14: 118,553,349	R749C	probably damaging	Het
Acot11	T	C	4: 106,762,035	E201G	probably damaging	Het
Akap13	G	T	7: 75,611,434	A1269S	probably benign	Het
Aldh4a1	T	C	4: 139,644,128	V451A	probably benign	Het
Aox3	A	G	1: 58,169,843	H845R	probably damaging	Het
Asb6	G	A	2: 30,827,076	R46W	probably damaging	Het
Bpifb6	T	C	2: 153,906,861	F259S	probably damaging	Het
Cad	T	A	5: 31,058,072	F76I	probably damaging	Het
Camk2b	T	C	11: 5,977,880	E390G	probably benign	Het
Cars	C	A	7: 143,592,474	R71M	probably damaging	Het
Ccdc170	T	G	10: 4,519,043	I197S	probably benign	Het
Cdc20b	A	T	13: 113,081,134	K362N	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,122,806		probably null	Het
Cpd	T	C	11: 76,792,798	D1045G	probably benign	Het
Crocc	T	C	4: 141,021,802	D1564G	probably damaging	Het
Csf1r	A	T	18: 61,129,077	M802L	probably damaging	Het
Dctn4	T	C	18: 60,546,335		probably null	Het
Dnah5	A	G	15: 28,313,786	Q1916R	probably damaging	Het
Dpysl2	A	G	14: 66,862,665		probably benign	Het
Dync2h1	A	G	9: 7,081,084	Y2871H	probably damaging	Het
Fam221b	T	A	4: 43,665,537	H307L	probably damaging	Het
Foxn4	C	T	5: 114,263,132	D37N	probably damaging	Het
Gemin4	G	C	11: 76,211,050	P962A	probably damaging	Het
Gm9797	T	C	10: 11,609,325		noncoding transcript	Het
Golim4	A	T	3: 75,908,149	V116D	probably damaging	Het
Gper1	C	T	5: 139,426,722	P274L	probably damaging	Het
Gpr132	A	G	12: 112,852,403	S268P	probably damaging	Het
Gtpbp2	T	C	17: 46,161,202	M21T	probably benign	Het
Hivep1	C	T	13: 42,183,786	A2447V	possibly damaging	Het
Ift20	G	A	11: 78,540,034	E68K	probably damaging	Het
Insrr	G	A	3: 87,810,572		probably null	Het
Kcnh8	T	C	17: 52,893,933	V465A	probably damaging	Het
Kif5c	T	A	2: 49,758,805		probably benign	Het
Kmt2a	G	A	9: 44,819,675		probably benign	Het
Lhx6	G	T	2: 36,087,458	C327*	probably null	Het
Lifr	A	G	15: 7,181,856	D625G	possibly damaging	Het
Llgl1	T	C	11: 60,707,240	V370A	probably benign	Het
Lman1	A	T	18: 65,991,582	M362K	probably damaging	Het
Lmtk2	C	T	5: 144,174,988	T842I	possibly damaging	Het
Lpin3	T	A	2: 160,896,809	L227*	probably null	Het
Ltv1	C	G	10: 13,182,536		probably benign	Het
Magel2	A	T	7: 62,377,738	H130L	unknown	Het
Mettl17	A	T	14: 51,888,735		probably benign	Het
Mnx1	T	A	5: 29,474,189	S299C	unknown	Het
Mov10	A	T	3: 104,818,116	I59N	possibly damaging	Het
Myo7b	T	C	18: 31,994,897	I581V	probably benign	Het
Ncdn	T	A	4: 126,745,273		probably null	Het
Ndufa4	A	T	6: 11,900,575	V37E	probably benign	Het
Nhsl1	T	G	10: 18,524,664	L546R	probably benign	Het
Nop9	T	C	14: 55,751,142	L347P	probably damaging	Het
Nrp1	A	T	8: 128,498,516	E782D	probably damaging	Het
Ntrk3	G	A	7: 78,477,935		probably benign	Het
Olfr341	A	G	2: 36,480,047	S28P	possibly damaging	Het
Olfr372	A	G	8: 72,058,436	Y252C	probably damaging	Het
Olfr968	A	T	9: 39,772,495	C102S	probably benign	Het
Osbpl6	T	A	2: 76,586,214	I546K	probably damaging	Het
Pard6g	T	C	18: 80,117,308	V212A	probably damaging	Het
Pknox2	A	G	9: 36,909,684	V294A	probably damaging	Het
Plekha1	T	C	7: 130,892,253	V106A	probably benign	Het
Plekha6	C	A	1: 133,279,365		probably null	Het
Ptgdr	A	T	14: 44,858,579	Y225*	probably null	Het
Ptpn22	A	G	3: 103,874,052	I90V	probably damaging	Het
Pygb	C	T	2: 150,816,772	T372I	probably damaging	Het
Pzp	T	C	6: 128,491,161		probably null	Het
Qrich2	C	T	11: 116,441,449	G2307D	probably damaging	Het
Rfwd3	A	T	8: 111,297,402	V96E	probably benign	Het
Senp1	T	A	15: 98,075,967	T132S	probably benign	Het
Slc9a4	T	G	1: 40,607,741		probably null	Het
Slfn9	T	A	11: 82,981,307	I868F	probably damaging	Het
St3gal6	T	C	16: 58,475,871	D137G	probably damaging	Het
Synj1	G	T	16: 90,964,517	A687D	probably damaging	Het
Syt4	A	G	18: 31,443,443		probably benign	Het
Tacc1	A	T	8: 25,164,493	N271K	probably damaging	Het
Tdrd6	T	C	17: 43,624,833	T1775A	probably benign	Het
Tecpr1	T	A	5: 144,208,645	T595S	probably benign	Het
Tjp3	T	A	10: 81,278,054	M457L	possibly damaging	Het
Tmem200a	T	A	10: 25,993,927	H148L	probably damaging	Het
Trappc8	A	G	18: 20,834,940		probably null	Het
Txk	T	A	5: 72,696,579	T472S	probably damaging	Het
Ubr4	T	A	4: 139,423,945	M1897K	probably damaging	Het
Uggt2	A	G	14: 119,061,376	L391P	probably damaging	Het
Uncx	T	C	5: 139,547,547	S456P	probably benign	Het
Vps13b	A	G	15: 35,879,791	Y3004C	probably damaging	Het
Wisp1	G	A	15: 66,906,489	C53Y	probably damaging	Het
Zbtb46	C	T	2: 181,391,431	C479Y	probably damaging	Het
Zc3h7a	A	T	16: 11,150,605	Y503*	probably null	Het
Zdhhc13	T	A	7: 48,824,644	L548Q	possibly damaging	Het
Zfp236	T	C	18: 82,621,304	M1225V	probably benign	Het
Zfp503	A	T	14: 21,985,520	C443S	possibly damaging	Het
Zfyve26	T	A	12: 79,268,434	I1423F	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
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
R3950:Zfp280d	UTSW	9	72296019	missense	possibly damaging	0.49
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'- GATCAGTTTTAGTTGGGCAAATCG -3'
(R):5'- GCATTTTAAAGGTTGGTTCCATAGG -3'

Sequencing Primer
(F):5'- TCGGAACAAACAAGCTCTATTTGC -3'
(R):5'- GGTTGGTTCCATAGGAAAAAGAATAC -3'

Posted On

2014-06-23