Mutagenetix > Incidental Mutation

Incidental Mutation 'R4716:Zfp280d'

354047

Institutional Source

Beutler Lab

Gene Symbol

Zfp280d

Ensembl Gene

ENSMUSG00000038535

Gene Name

zinc finger protein 280D

Synonyms

Suhw4

MMRRC Submission

041983-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.245) question?

Stock #

R4716 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72182142-72271059 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72219947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 241 (S241T)

Ref Sequence

ENSEMBL: ENSMUSP00000138970 (fasta)

Gene Model

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

AlphaFold

Q68FE8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098576
AA Change: S241T

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096175
Gene: ENSMUSG00000038535
AA Change: S241T

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

possibly damaging
Transcript: ENSMUST00000183410
AA Change: S241T

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139250
Gene: ENSMUSG00000038535
AA Change: S241T

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

possibly damaging
Transcript: ENSMUST00000183801
AA Change: S241T

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139091
Gene: ENSMUSG00000038535
AA Change: S241T

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

possibly damaging
Transcript: ENSMUST00000184036
AA Change: S216T

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138857
Gene: ENSMUSG00000038535
AA Change: S216T

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

possibly damaging
Transcript: ENSMUST00000185020
AA Change: S41T

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000184517
AA Change: S241T

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138970
Gene: ENSMUSG00000038535
AA Change: S241T

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

noncoding transcript
Transcript: ENSMUST00000193207

Predicted Effect

probably benign
Transcript: ENSMUST00000184786

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,471,088 (GRCm39)	R578*	probably null	Het
Adam8	T	A	7: 139,563,851 (GRCm39)	D717V	probably benign	Het
Aknad1	T	C	3: 108,682,417 (GRCm39)		probably null	Het
Alk	A	T	17: 72,512,937 (GRCm39)	W341R	probably damaging	Het
Ankdd1b	G	A	13: 96,591,091 (GRCm39)	Q101*	probably null	Het
Anpep	A	C	7: 79,476,380 (GRCm39)	S829A	probably benign	Het
Armh3	A	G	19: 45,948,781 (GRCm39)	S233P	probably damaging	Het
Ate1	A	T	7: 130,115,511 (GRCm39)	C72S	probably damaging	Het
Atp6v0a4	G	A	6: 38,037,999 (GRCm39)	L533F	probably damaging	Het
Bach1	T	C	16: 87,512,267 (GRCm39)		probably benign	Het
Baz2b	T	C	2: 59,799,599 (GRCm39)	D240G	probably benign	Het
Cdc14b	C	T	13: 64,357,014 (GRCm39)	S21N	probably damaging	Het
Cdh3	A	G	8: 107,270,520 (GRCm39)	I466V	probably benign	Het
Cog1	A	G	11: 113,547,923 (GRCm39)	E137G	probably damaging	Het
Col4a2	A	G	8: 11,452,224 (GRCm39)	D180G	probably damaging	Het
Cyp2c40	A	T	19: 39,791,105 (GRCm39)		probably null	Het
Dclk2	C	T	3: 86,827,188 (GRCm39)	R97H	probably damaging	Het
Ddx52	T	C	11: 83,846,031 (GRCm39)		probably null	Het
Dhx58	C	T	11: 100,587,797 (GRCm39)		probably null	Het
Dmp1	T	A	5: 104,360,427 (GRCm39)	S368T	probably damaging	Het
Dnah17	C	A	11: 117,964,474 (GRCm39)	V2435L	probably benign	Het
Dnajc7	A	G	11: 100,510,402 (GRCm39)	V10A	probably benign	Het
Dscam	G	T	16: 96,420,771 (GRCm39)	T1705K	possibly damaging	Het
Dscaml1	G	A	9: 45,361,890 (GRCm39)	V217M	probably damaging	Het
Dync2h1	A	G	9: 7,142,648 (GRCm39)		probably null	Het
F5	A	G	1: 164,021,488 (GRCm39)	D1321G	probably damaging	Het
Fam174a	C	T	1: 95,241,770 (GRCm39)	P77S	probably benign	Het
Fars2	G	A	13: 36,389,051 (GRCm39)	R180H	probably damaging	Het
Fnbp1	T	C	2: 30,945,532 (GRCm39)	T154A	probably benign	Het
Fsip2	T	A	2: 82,805,203 (GRCm39)	N507K	probably damaging	Het
Glg1	G	T	8: 111,887,407 (GRCm39)	Y449*	probably null	Het
Gm15130	A	T	2: 110,964,560 (GRCm39)	Y187*	probably null	Het
Gm973	A	T	1: 59,591,713 (GRCm39)	K366*	probably null	Het
H2bc11	T	A	13: 22,227,533 (GRCm39)	V45E	possibly damaging	Het
Hao1	A	G	2: 134,347,540 (GRCm39)	I255T	probably damaging	Het
Herc6	T	A	6: 57,575,423 (GRCm39)	V148E	probably damaging	Het
Insm2	T	A	12: 55,647,677 (GRCm39)	C474S	possibly damaging	Het
Itch	T	C	2: 155,052,502 (GRCm39)		probably null	Het
Itga2	A	G	13: 114,993,909 (GRCm39)	V748A	probably damaging	Het
Itga9	T	A	9: 118,510,826 (GRCm39)	S452T	probably damaging	Het
Kdm4b	C	A	17: 56,693,178 (GRCm39)	D338E	probably benign	Het
Krt40	G	A	11: 99,431,045 (GRCm39)	R155C	probably damaging	Het
Krtap16-1	A	G	11: 99,876,000 (GRCm39)	V468A	probably damaging	Het
Lactb2	G	A	1: 13,708,619 (GRCm39)	P143L	probably damaging	Het
Lrba	C	A	3: 86,550,021 (GRCm39)	T2330K	probably damaging	Het
Lrp2bp	A	T	8: 46,466,208 (GRCm39)	I106F	probably benign	Het
Luzp2	A	G	7: 54,485,710 (GRCm39)	K2E	probably damaging	Het
Lypd6	T	C	2: 50,078,855 (GRCm39)		probably null	Het
Maml1	A	T	11: 50,148,694 (GRCm39)	D1015E	probably benign	Het
Mdfi	T	G	17: 48,131,906 (GRCm39)	D106A	possibly damaging	Het
Olfm3	T	C	3: 114,874,755 (GRCm39)	M17T	probably benign	Het
Or2n1d	A	C	17: 38,646,731 (GRCm39)	I228L	possibly damaging	Het
Or2o1	A	G	11: 49,051,717 (GRCm39)	Y292C	probably damaging	Het
Or8c16	T	A	9: 38,130,714 (GRCm39)	N198K	probably damaging	Het
Or8g30	A	G	9: 39,230,725 (GRCm39)	F62L	probably benign	Het
Otud7b	T	G	3: 96,058,227 (GRCm39)	L261V	probably damaging	Het
P2ry1	A	G	3: 60,910,893 (GRCm39)	N11D	probably damaging	Het
Pate2	T	C	9: 35,596,978 (GRCm39)		probably benign	Het
Pcdhb16	A	T	18: 37,612,458 (GRCm39)	T473S	probably benign	Het
Per1	A	G	11: 68,992,057 (GRCm39)	E137G	probably damaging	Het
Phf11d	T	C	14: 59,590,791 (GRCm39)	T189A	probably benign	Het
Pik3r5	C	A	11: 68,386,030 (GRCm39)	S738R	possibly damaging	Het
Pikfyve	A	G	1: 65,285,635 (GRCm39)	Y913C	possibly damaging	Het
Pkd1	T	G	17: 24,795,107 (GRCm39)	S2265A	probably damaging	Het
Pkhd1l1	C	A	15: 44,419,428 (GRCm39)	N2964K	probably damaging	Het
Plch1	T	G	3: 63,688,967 (GRCm39)	D79A	probably damaging	Het
Pnliprp1	A	C	19: 58,728,901 (GRCm39)	T363P	possibly damaging	Het
Ppp1r10	T	A	17: 36,240,352 (GRCm39)	D547E	probably benign	Het
Prkdc	T	A	16: 15,628,701 (GRCm39)	I3482K	probably benign	Het
Ptpn4	A	G	1: 119,649,598 (GRCm39)	Y333H	probably damaging	Het
Ptpru	T	A	4: 131,548,279 (GRCm39)	M73L	probably benign	Het
Rrp12	A	G	19: 41,865,867 (GRCm39)	Y698H	probably damaging	Het
Scaf8	T	C	17: 3,227,398 (GRCm39)	F338L	unknown	Het
Slc17a1	G	T	13: 24,064,576 (GRCm39)	V347L	probably benign	Het
Slc1a2	T	A	2: 102,578,883 (GRCm39)	V263E	probably damaging	Het
Slc29a4	T	C	5: 142,704,327 (GRCm39)	V327A	probably benign	Het
Slc6a3	A	C	13: 73,705,195 (GRCm39)	I229L	probably benign	Het
Sos2	T	C	12: 69,654,145 (GRCm39)	I703V	probably benign	Het
Srpk1	T	C	17: 28,840,982 (GRCm39)	T15A	probably benign	Het
St6gal2	A	T	17: 55,817,367 (GRCm39)	Q510L	probably benign	Het
Stk24	T	C	14: 121,532,130 (GRCm39)	D289G	possibly damaging	Het
Taf2	T	G	15: 54,929,364 (GRCm39)	K64T	probably benign	Het
Tbx3	A	G	5: 119,813,735 (GRCm39)	E257G	possibly damaging	Het
Tmem102	A	T	11: 69,695,022 (GRCm39)	F317I	probably damaging	Het
Trav10	A	G	14: 53,743,497 (GRCm39)	S33G	possibly damaging	Het
Ttn	T	A	2: 76,745,408 (GRCm39)	I5214F	probably damaging	Het
Ube2f	T	A	1: 91,182,002 (GRCm39)	L2Q	probably damaging	Het
Ube4b	A	G	4: 149,429,069 (GRCm39)	F857L	probably damaging	Het
Vmn2r18	T	A	5: 151,485,602 (GRCm39)	I631F	possibly damaging	Het
Zfp638	T	A	6: 83,956,544 (GRCm39)	L1717*	probably null	Het
Zfp719	A	G	7: 43,240,535 (GRCm39)	N708D	possibly damaging	Het

Other mutations in Zfp280d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Zfp280d	APN	9	72,229,853 (GRCm39)	missense	probably damaging	1.00
IGL00708:Zfp280d	APN	9	72,219,417 (GRCm39)	missense	probably benign	0.19
IGL01333:Zfp280d	APN	9	72,242,396 (GRCm39)	splice site	probably benign
IGL01453:Zfp280d	APN	9	72,229,868 (GRCm39)	missense	possibly damaging	0.90
IGL02472:Zfp280d	APN	9	72,208,993 (GRCm39)	missense	probably damaging	1.00
IGL02583:Zfp280d	APN	9	72,229,727 (GRCm39)	splice site	probably benign
IGL02608:Zfp280d	APN	9	72,215,261 (GRCm39)	missense	probably damaging	0.98
IGL02675:Zfp280d	APN	9	72,219,504 (GRCm39)	missense	probably benign	0.33
IGL02676:Zfp280d	APN	9	72,242,356 (GRCm39)	missense	probably damaging	1.00
IGL02931:Zfp280d	APN	9	72,203,307 (GRCm39)	missense	probably benign	0.02
IGL03076:Zfp280d	APN	9	72,219,944 (GRCm39)	missense	probably damaging	0.99
R0017:Zfp280d	UTSW	9	72,246,292 (GRCm39)	critical splice acceptor site	probably null
R0017:Zfp280d	UTSW	9	72,246,292 (GRCm39)	critical splice acceptor site	probably null
R0288:Zfp280d	UTSW	9	72,238,621 (GRCm39)	nonsense	probably null
R0419:Zfp280d	UTSW	9	72,219,519 (GRCm39)	missense	probably benign	0.02
R0540:Zfp280d	UTSW	9	72,215,247 (GRCm39)	missense	probably damaging	0.97
R0628:Zfp280d	UTSW	9	72,269,230 (GRCm39)	missense	probably benign
R0722:Zfp280d	UTSW	9	72,219,383 (GRCm39)	missense	possibly damaging	0.63
R1055:Zfp280d	UTSW	9	72,236,449 (GRCm39)	splice site	probably null
R1786:Zfp280d	UTSW	9	72,215,287 (GRCm39)	missense	probably damaging	1.00
R1826:Zfp280d	UTSW	9	72,206,062 (GRCm39)	missense	probably damaging	1.00
R1962:Zfp280d	UTSW	9	72,242,362 (GRCm39)	nonsense	probably null
R2130:Zfp280d	UTSW	9	72,215,287 (GRCm39)	missense	probably damaging	1.00
R2132:Zfp280d	UTSW	9	72,215,287 (GRCm39)	missense	probably damaging	1.00
R2133:Zfp280d	UTSW	9	72,215,287 (GRCm39)	missense	probably damaging	1.00
R2143:Zfp280d	UTSW	9	72,220,011 (GRCm39)	missense	probably damaging	1.00
R2162:Zfp280d	UTSW	9	72,206,104 (GRCm39)	missense	probably damaging	1.00
R2266:Zfp280d	UTSW	9	72,209,052 (GRCm39)	splice site	probably benign
R2269:Zfp280d	UTSW	9	72,209,052 (GRCm39)	splice site	probably benign
R2278:Zfp280d	UTSW	9	72,246,055 (GRCm39)	nonsense	probably null
R2850:Zfp280d	UTSW	9	72,219,371 (GRCm39)	missense	probably benign	0.06
R3780:Zfp280d	UTSW	9	72,229,806 (GRCm39)	missense	probably damaging	1.00
R3950:Zfp280d	UTSW	9	72,203,301 (GRCm39)	missense	possibly damaging	0.49
R4330:Zfp280d	UTSW	9	72,203,261 (GRCm39)	missense	possibly damaging	0.86
R4876:Zfp280d	UTSW	9	72,206,140 (GRCm39)	splice site	probably benign
R4909:Zfp280d	UTSW	9	72,238,714 (GRCm39)	missense	probably damaging	1.00
R5214:Zfp280d	UTSW	9	72,215,395 (GRCm39)	unclassified	probably benign
R5518:Zfp280d	UTSW	9	72,231,417 (GRCm39)	missense	probably damaging	0.99
R5853:Zfp280d	UTSW	9	72,238,224 (GRCm39)	missense	probably benign	0.20
R5945:Zfp280d	UTSW	9	72,269,614 (GRCm39)	nonsense	probably null
R6033:Zfp280d	UTSW	9	72,236,419 (GRCm39)	missense	probably damaging	1.00
R6033:Zfp280d	UTSW	9	72,236,419 (GRCm39)	missense	probably damaging	1.00
R7043:Zfp280d	UTSW	9	72,226,539 (GRCm39)	missense	probably damaging	1.00
R7501:Zfp280d	UTSW	9	72,269,224 (GRCm39)	missense	possibly damaging	0.65
R7658:Zfp280d	UTSW	9	72,231,354 (GRCm39)	missense	probably damaging	1.00
R7667:Zfp280d	UTSW	9	72,209,247 (GRCm39)	missense	probably damaging	1.00
R7792:Zfp280d	UTSW	9	72,238,601 (GRCm39)	missense	probably damaging	1.00
R7826:Zfp280d	UTSW	9	72,219,953 (GRCm39)	missense	possibly damaging	0.68
R7964:Zfp280d	UTSW	9	72,229,740 (GRCm39)	missense	probably damaging	1.00
R8096:Zfp280d	UTSW	9	72,226,560 (GRCm39)	missense	probably damaging	1.00
R8188:Zfp280d	UTSW	9	72,267,615 (GRCm39)	missense	probably benign	0.01
R9210:Zfp280d	UTSW	9	72,269,789 (GRCm39)	makesense	probably null
R9212:Zfp280d	UTSW	9	72,269,789 (GRCm39)	makesense	probably null
R9435:Zfp280d	UTSW	9	72,226,599 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GTGATATCTCTCCAAGTGGTGCC -3'
(R):5'- AGGTCTATGGATATACCTAGTATGAGA -3'

Sequencing Primer
(F):5'- CAGAGAACCTGTGTTTGATTCCTAGC -3'
(R):5'- GAAAAGATTTACCGTCATGTG -3'

Posted On

2015-10-21