Mutagenetix > Incidental Mutation

Incidental Mutation 'BB008:Zfp268'

642461

Institutional Source

Beutler Lab

Gene Symbol

Zfp268

Ensembl Gene

ENSMUSG00000078502

Gene Name

zinc finger protein 268

Synonyms

Gm13212

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.401) question?

Stock #

BB008

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

145311770-145351915 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 145349126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 188 (D188N)

Ref Sequence

ENSEMBL: ENSMUSP00000101365 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097794] [ENSMUST00000105739] [ENSMUST00000119718]

AlphaFold

B1ASQ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097794
AA Change: D188N

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095402
Gene: ENSMUSG00000078502
AA Change: D188N

Domain	Start	End	E-Value	Type
KRAB	13	72	3.23e-18	SMART
ZnF_C2H2	238	260	1.69e-3	SMART
ZnF_C2H2	266	288	1.18e-2	SMART
ZnF_C2H2	294	316	1.3e-4	SMART
ZnF_C2H2	322	344	1.58e-3	SMART
ZnF_C2H2	350	372	4.24e-4	SMART
ZnF_C2H2	378	400	1.06e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105739
AA Change: D188N

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101365
Gene: ENSMUSG00000078502
AA Change: D188N

Domain	Start	End	E-Value	Type
KRAB	13	72	3.23e-18	SMART
ZnF_C2H2	238	260	1.69e-3	SMART
ZnF_C2H2	266	288	1.18e-2	SMART
ZnF_C2H2	294	316	1.3e-4	SMART
ZnF_C2H2	322	344	1.58e-3	SMART
ZnF_C2H2	350	372	4.24e-4	SMART
ZnF_C2H2	378	400	1.06e-4	SMART
ZnF_C2H2	406	428	1.58e-3	SMART
ZnF_C2H2	434	456	3.39e-3	SMART
ZnF_C2H2	462	484	1.06e-4	SMART
ZnF_C2H2	490	512	1.58e-3	SMART
ZnF_C2H2	518	540	3.39e-3	SMART
ZnF_C2H2	546	568	3.39e-3	SMART
ZnF_C2H2	574	596	3.39e-3	SMART
ZnF_C2H2	602	624	3.39e-3	SMART
ZnF_C2H2	630	652	1.06e-4	SMART
ZnF_C2H2	658	680	1.58e-3	SMART
ZnF_C2H2	686	708	3.39e-3	SMART
ZnF_C2H2	714	736	1.3e-4	SMART
ZnF_C2H2	742	764	1.3e-4	SMART
ZnF_C2H2	770	792	4.79e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119718
AA Change: D188N

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112918
Gene: ENSMUSG00000078502
AA Change: D188N

Domain	Start	End	E-Value	Type
KRAB	13	72	3.23e-18	SMART
internal_repeat_1	141	211	2.19e-13	PROSPERO
ZnF_C2H2	238	260	1.69e-3	SMART
ZnF_C2H2	266	288	1.18e-2	SMART
low complexity region	320	335	N/A	INTRINSIC
low complexity region	350	357	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp2	A	T	2: 91,037,060 (GRCm39)		probably null	Het
Aire	G	A	10: 77,866,130 (GRCm39)	A536V	probably damaging	Het
Aox4	A	G	1: 58,294,645 (GRCm39)	I951M	probably benign	Het
Ash1l	G	T	3: 88,950,848 (GRCm39)	C2190F	probably damaging	Het
C1s1	C	T	6: 124,510,359 (GRCm39)	V363M	probably damaging	Het
Diaph3	A	T	14: 87,352,456 (GRCm39)	D48E	possibly damaging	Het
Dnajc13	A	G	9: 104,095,763 (GRCm39)	V559A	probably benign	Het
Dzank1	T	C	2: 144,323,614 (GRCm39)	I610V	probably benign	Het
F7	A	G	8: 13,085,209 (GRCm39)	I412V	probably benign	Het
Flt1	A	G	5: 147,525,382 (GRCm39)	S919P	probably damaging	Het
Igkv4-70	C	A	6: 69,244,975 (GRCm39)	R82L	probably damaging	Het
Lnp1	T	A	16: 56,748,281 (GRCm39)	R4*	probably null	Het
Lrrc3b	T	C	14: 15,358,018 (GRCm38)	N196S	probably benign	Het
Mlxip	A	G	5: 123,588,558 (GRCm39)	D816G	probably damaging	Het
Myh7	C	T	14: 55,221,119 (GRCm39)	E935K	possibly damaging	Het
Myom3	A	T	4: 135,516,947 (GRCm39)	H839L	probably benign	Het
Nebl	C	T	2: 17,381,433 (GRCm39)		probably null	Het
Ninj1	T	C	13: 49,347,432 (GRCm39)	I99T	probably damaging	Het
Or11g1	A	C	14: 50,651,786 (GRCm39)	M262L	probably damaging	Het
Or2l5	A	G	16: 19,334,258 (GRCm39)	S43P	possibly damaging	Het
Or4a76	T	A	2: 89,460,448 (GRCm39)	I265F	possibly damaging	Het
Or8g55	A	T	9: 39,785,146 (GRCm39)	T192S	possibly damaging	Het
Otop1	A	G	5: 38,445,364 (GRCm39)	H174R	probably damaging	Het
Pcdhb16	A	G	18: 37,611,510 (GRCm39)	N157D	possibly damaging	Het
Prss44	A	C	9: 110,643,746 (GRCm39)	Q130P	probably damaging	Het
Ptpn4	T	A	1: 119,607,925 (GRCm39)	M712L	probably damaging	Het
Ptprh	C	A	7: 4,574,987 (GRCm39)	S344I	probably benign	Het
Rps6kl1	T	C	12: 85,196,566 (GRCm39)	I33V	possibly damaging	Het
Scn1a	T	C	2: 66,148,156 (GRCm39)	S110G	probably damaging	Het
Sdk2	C	A	11: 113,784,267 (GRCm39)	K157N	possibly damaging	Het
Serpina1d	A	T	12: 103,733,815 (GRCm39)	V163D	probably damaging	Het
Serpina3g	T	C	12: 104,205,428 (GRCm39)	S56P	probably benign	Het
Slc4a4	T	C	5: 89,318,640 (GRCm39)	L636P	probably benign	Het
Slc6a1	T	C	6: 114,288,863 (GRCm39)	F474S	probably benign	Het
Slco6d1	A	G	1: 98,356,141 (GRCm39)	D235G	probably damaging	Het
Srgn	A	T	10: 62,330,763 (GRCm39)	M114K	possibly damaging	Het
Syne3	A	T	12: 104,929,491 (GRCm39)	V243E	probably damaging	Het
Tcf19	A	G	17: 35,825,804 (GRCm39)	F118L	probably damaging	Het
Tln2	A	T	9: 67,165,742 (GRCm39)		probably null	Het
Tnxb	A	G	17: 34,907,672 (GRCm39)	T1239A	probably damaging	Het
Traip	A	G	9: 107,848,241 (GRCm39)	I453M	probably benign	Het
Vmn1r157	C	T	7: 22,461,210 (GRCm39)	A30V	probably damaging	Het
Vmn1r233	G	A	17: 21,214,125 (GRCm39)	A275V	probably benign	Het
Vps13d	G	A	4: 144,822,854 (GRCm39)	R2976*	probably null	Het
Wdr75	T	C	1: 45,858,795 (GRCm39)	F655L	probably benign	Het
Wwp1	A	G	4: 19,650,114 (GRCm39)		probably null	Het
Zc3h4	T	C	7: 16,166,909 (GRCm39)	L747P	unknown	Het

Other mutations in Zfp268

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01797:Zfp268	APN	4	145,347,241 (GRCm39)	missense	probably damaging	0.98
IGL02678:Zfp268	APN	4	145,349,067 (GRCm39)	missense	probably damaging	1.00
IGL03035:Zfp268	APN	4	145,348,802 (GRCm39)	missense	possibly damaging	0.77
BB018:Zfp268	UTSW	4	145,349,126 (GRCm39)	missense	possibly damaging	0.49
R0090:Zfp268	UTSW	4	145,349,195 (GRCm39)	nonsense	probably null
R0904:Zfp268	UTSW	4	145,348,745 (GRCm39)	missense	possibly damaging	0.95
R1617:Zfp268	UTSW	4	145,350,877 (GRCm39)	utr 3 prime	probably benign
R1851:Zfp268	UTSW	4	145,350,820 (GRCm39)	unclassified	probably benign
R1864:Zfp268	UTSW	4	145,348,998 (GRCm39)	missense	possibly damaging	0.92
R2093:Zfp268	UTSW	4	145,349,139 (GRCm39)	missense	probably benign	0.02
R2132:Zfp268	UTSW	4	145,350,803 (GRCm39)	unclassified	probably benign
R2240:Zfp268	UTSW	4	145,311,891 (GRCm39)	start gained	probably benign
R4177:Zfp268	UTSW	4	145,347,225 (GRCm39)	missense	probably damaging	1.00
R4584:Zfp268	UTSW	4	145,343,747 (GRCm39)	critical splice donor site	probably null
R4991:Zfp268	UTSW	4	145,348,904 (GRCm39)	missense	probably benign	0.31
R5164:Zfp268	UTSW	4	145,348,775 (GRCm39)	missense	probably damaging	1.00
R6175:Zfp268	UTSW	4	145,350,811 (GRCm39)	unclassified	probably benign
R6176:Zfp268	UTSW	4	145,350,628 (GRCm39)	nonsense	probably null
R6498:Zfp268	UTSW	4	145,349,459 (GRCm39)	missense	probably damaging	0.98
R6984:Zfp268	UTSW	4	145,347,186 (GRCm39)	missense	probably damaging	1.00
R7134:Zfp268	UTSW	4	145,349,375 (GRCm39)	missense	possibly damaging	0.93
R7931:Zfp268	UTSW	4	145,349,126 (GRCm39)	missense	possibly damaging	0.49
R8017:Zfp268	UTSW	4	145,349,138 (GRCm39)	missense	probably benign	0.28
R8282:Zfp268	UTSW	4	145,349,547 (GRCm39)	missense	possibly damaging	0.94
R9320:Zfp268	UTSW	4	145,349,156 (GRCm39)	missense	possibly damaging	0.77
R9358:Zfp268	UTSW	4	145,349,613 (GRCm39)	missense	possibly damaging	0.79
R9435:Zfp268	UTSW	4	145,349,045 (GRCm39)	missense
V5622:Zfp268	UTSW	4	145,311,891 (GRCm39)	start gained	probably benign
Z1176:Zfp268	UTSW	4	145,349,538 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- TCACAGCTCTCTTCAATACTCGAAC -3'
(R):5'- GTGGGTAAAGCATTTGTCACATTC -3'

Sequencing Primer
(F):5'- GCCCAGGAACACTAAAGAAGTTTGC -3'
(R):5'- GGTAAAGCATTTGTCACATTCACTAC -3'

Posted On

2020-08-01