Mutagenetix > Incidental Mutation

Incidental Mutation 'R1882:Zfp277'

209197

Institutional Source

Beutler Lab

Gene Symbol

Zfp277

Ensembl Gene

ENSMUSG00000055917

Gene Name

zinc finger protein 277

Synonyms

NIRF4, 2410017E24Rik

MMRRC Submission

039903-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R1882 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

40365045-40495789 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40495745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 5 (E5G)

Ref Sequence

ENSEMBL: ENSMUSP00000068032 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037488] [ENSMUST00000069637] [ENSMUST00000069692] [ENSMUST00000220912]

AlphaFold

E9Q6D6

Predicted Effect

probably benign
Transcript: ENSMUST00000037488

SMART Domains

Protein: ENSMUSP00000047387
Gene: ENSMUSG00000035954

Domain	Start	End	E-Value	Type
SH3	9	66	7.29e-10	SMART
Pfam:DOCK_N	69	392	8.2e-110	PFAM
Pfam:DOCK-C2	397	583	1.9e-55	PFAM
low complexity region	829	842	N/A	INTRINSIC
Pfam:DHR-2	1092	1596	5e-108	PFAM
low complexity region	1651	1664	N/A	INTRINSIC
low complexity region	1681	1696	N/A	INTRINSIC
low complexity region	1700	1713	N/A	INTRINSIC
low complexity region	1842	1872	N/A	INTRINSIC
low complexity region	1883	1896	N/A	INTRINSIC
low complexity region	1940	1950	N/A	INTRINSIC
low complexity region	1958	1973	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000069637
AA Change: E5G

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000068032
Gene: ENSMUSG00000055917
AA Change: E5G

Domain	Start	End	E-Value	Type
ZnF_C2H2	59	84	4.27e1	SMART
coiled coil region	143	171	N/A	INTRINSIC
ZnF_C2H2	174	198	3.85e1	SMART
ZnF_C2H2	225	249	2.24e-3	SMART
low complexity region	280	292	N/A	INTRINSIC
ZnF_C2H2	303	326	1.91e1	SMART
ZnF_C2H2	356	382	4.94e0	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000069692
AA Change: E5G

SMART Domains

Protein: ENSMUSP00000064226
Gene: ENSMUSG00000055917
AA Change: E5G

Domain	Start	End	E-Value	Type
ZnF_C2H2	185	210	4.27e1	SMART
coiled coil region	269	297	N/A	INTRINSIC
ZnF_C2H2	300	324	3.85e1	SMART
ZnF_C2H2	351	375	2.24e-3	SMART
low complexity region	406	418	N/A	INTRINSIC
ZnF_C2H2	429	452	1.91e1	SMART
ZnF_C2H2	482	508	4.94e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000220912

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221758

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223290

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222860

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.6%
20x: 93.5%

Validation Efficiency

100% (59/59)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit early cellular preplicative senescence in MEFs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	C	19: 43,786,945 (GRCm39)	S189P	probably benign	Het
Adgrg3	G	T	8: 95,766,943 (GRCm39)	V433F	probably benign	Het
Arhgap33	A	T	7: 30,222,234 (GRCm39)	W1233R	probably damaging	Het
Brf2	T	C	8: 27,618,577 (GRCm39)	D9G	probably damaging	Het
Btrc	G	A	19: 45,515,839 (GRCm39)	R562Q	probably damaging	Het
Cenpu	T	C	8: 47,009,225 (GRCm39)	F67L	probably damaging	Het
Chia1	T	C	3: 106,035,790 (GRCm39)	M150T	probably damaging	Het
Cntln	A	G	4: 85,019,072 (GRCm39)	E1254G	probably damaging	Het
Creld1	G	A	6: 113,469,166 (GRCm39)	C332Y	probably damaging	Het
Ctla2a	A	G	13: 61,083,355 (GRCm39)		probably benign	Het
Dusp13b	A	T	14: 21,785,043 (GRCm39)	D223E	probably benign	Het
Ext1	C	A	15: 52,939,188 (GRCm39)	L620F	probably damaging	Het
H2-DMb2	C	T	17: 34,366,834 (GRCm39)	R89C	probably damaging	Het
Klhl32	A	T	4: 24,743,916 (GRCm39)	L17*	probably null	Het
Lats2	C	T	14: 57,934,811 (GRCm39)	V640M	probably damaging	Het
Lrig3	G	A	10: 125,845,694 (GRCm39)	V708I	possibly damaging	Het
Mtcl1	T	C	17: 66,686,315 (GRCm39)	T415A	probably benign	Het
Mynn	A	G	3: 30,670,962 (GRCm39)	*611W	probably null	Het
Nfx1	A	G	4: 41,009,240 (GRCm39)	T793A	possibly damaging	Het
Nlrp4d	T	C	7: 10,116,604 (GRCm39)		noncoding transcript	Het
Nos3	T	C	5: 24,573,818 (GRCm39)	V194A	probably damaging	Het
Npc1l1	C	T	11: 6,167,473 (GRCm39)		probably null	Het
Nrg2	T	C	18: 36,154,150 (GRCm39)	D589G	probably damaging	Het
Omg	C	T	11: 79,392,545 (GRCm39)		probably benign	Het
Or10v9	T	C	19: 11,832,835 (GRCm39)	T161A	probably damaging	Het
Or14j5	T	C	17: 38,161,839 (GRCm39)	S119P	probably damaging	Het
Or2y17	A	G	11: 49,231,539 (GRCm39)	Y60C	probably damaging	Het
Or8k16	T	A	2: 85,519,950 (GRCm39)	M59K	probably damaging	Het
P2ry2	G	T	7: 100,648,058 (GRCm39)	Y82*	probably null	Het
Pcdh1	T	C	18: 38,335,895 (GRCm39)	T247A	possibly damaging	Het
Pecr	A	T	1: 72,314,136 (GRCm39)		probably null	Het
Pgm3	A	G	9: 86,447,743 (GRCm39)	Y167H	possibly damaging	Het
Pramel15	A	T	4: 144,103,485 (GRCm39)	C214S	probably benign	Het
Prmt2	T	C	10: 76,058,302 (GRCm39)	H169R	probably benign	Het
Rad51ap2	T	A	12: 11,506,251 (GRCm39)	S58T	possibly damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Slc6a15	T	C	10: 103,230,925 (GRCm39)	S217P	probably benign	Het
Slco1a8	C	A	6: 141,939,363 (GRCm39)		probably null	Het
Snx27	G	A	3: 94,426,416 (GRCm39)	T361I	probably damaging	Het
St7l	A	G	3: 104,775,363 (GRCm39)	T80A	probably damaging	Het
Stk32b	T	A	5: 37,689,031 (GRCm39)	M98L	possibly damaging	Het
Tonsl	C	A	15: 76,508,350 (GRCm39)	A6S	possibly damaging	Het
Tpx2	A	G	2: 152,711,611 (GRCm39)	R49G	probably benign	Het
Trmt2a	A	G	16: 18,067,758 (GRCm39)	K144E	possibly damaging	Het
Trpm7	A	C	2: 126,654,697 (GRCm39)	L1414V	probably benign	Het
Ugdh	T	C	5: 65,580,939 (GRCm39)	K107E	possibly damaging	Het
Vamp3	A	T	4: 151,135,366 (GRCm39)		probably benign	Het
Vmn1r172	T	C	7: 23,359,651 (GRCm39)	S179P	probably damaging	Het
Vmn1r28	A	G	6: 58,242,963 (GRCm39)	M269V	probably benign	Het
Vmn2r94	T	C	17: 18,464,476 (GRCm39)	T605A	probably benign	Het
Vwce	A	G	19: 10,615,520 (GRCm39)	T134A	possibly damaging	Het

Other mutations in Zfp277

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01466:Zfp277	APN	12	40,428,825 (GRCm39)	missense	probably benign	0.24
IGL01477:Zfp277	APN	12	40,370,675 (GRCm39)	missense	probably benign	0.00
IGL02081:Zfp277	APN	12	40,378,795 (GRCm39)	nonsense	probably null
IGL02165:Zfp277	APN	12	40,365,802 (GRCm39)	missense	possibly damaging	0.75
IGL02613:Zfp277	APN	12	40,379,514 (GRCm39)	missense	probably damaging	1.00
IGL02688:Zfp277	APN	12	40,378,687 (GRCm39)	missense	possibly damaging	0.95
IGL02825:Zfp277	APN	12	40,367,175 (GRCm39)	missense	probably benign	0.06
R0194:Zfp277	UTSW	12	40,428,876 (GRCm39)	splice site	probably benign
R0226:Zfp277	UTSW	12	40,414,161 (GRCm39)	missense	possibly damaging	0.67
R0843:Zfp277	UTSW	12	40,370,599 (GRCm39)	critical splice donor site	probably null
R1263:Zfp277	UTSW	12	40,414,164 (GRCm39)	missense	probably damaging	0.99
R1584:Zfp277	UTSW	12	40,428,825 (GRCm39)	missense	probably benign	0.12
R1609:Zfp277	UTSW	12	40,378,719 (GRCm39)	missense	probably damaging	0.99
R1644:Zfp277	UTSW	12	40,379,609 (GRCm39)	splice site	probably null
R1789:Zfp277	UTSW	12	40,414,084 (GRCm39)	missense	probably benign	0.00
R2011:Zfp277	UTSW	12	40,367,217 (GRCm39)	nonsense	probably null
R4884:Zfp277	UTSW	12	40,413,152 (GRCm39)	missense	probably damaging	0.97
R4976:Zfp277	UTSW	12	40,378,687 (GRCm39)	missense	possibly damaging	0.95
R5119:Zfp277	UTSW	12	40,378,687 (GRCm39)	missense	possibly damaging	0.95
R5532:Zfp277	UTSW	12	40,385,308 (GRCm39)	missense	probably damaging	1.00
R6340:Zfp277	UTSW	12	40,368,548 (GRCm39)	missense	possibly damaging	0.57
R7191:Zfp277	UTSW	12	40,379,561 (GRCm39)	missense	probably damaging	1.00
R7378:Zfp277	UTSW	12	40,365,852 (GRCm39)	missense	possibly damaging	0.94
R7446:Zfp277	UTSW	12	40,378,729 (GRCm39)	missense	probably damaging	1.00
R7564:Zfp277	UTSW	12	40,379,594 (GRCm39)	missense	probably damaging	0.99
R7861:Zfp277	UTSW	12	40,365,880 (GRCm39)	missense	possibly damaging	0.92
R8428:Zfp277	UTSW	12	40,379,577 (GRCm39)	missense	probably damaging	1.00
R9673:Zfp277	UTSW	12	40,370,611 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- TCAAAGGTTTGAGCGGCTG -3'
(R):5'- GAAGTTGTAGTTCTTACGCTCCC -3'

Sequencing Primer
(F):5'- TTTGAGCGGCTGCCAGC -3'
(R):5'- CGGGACTACAGCGGTTG -3'

Posted On

2014-06-30