Mutagenetix > Incidental Mutation

Incidental Mutation 'R5647:Zfp207'

441232

Institutional Source

Beutler Lab

Gene Symbol

Zfp207

Ensembl Gene

ENSMUSG00000017421

Gene Name

zinc finger protein 207

Synonyms

Zep, 8430401D15Rik

MMRRC Submission

043295-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5647 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80274105-80296559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80283959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 293 (S293N)

Ref Sequence

ENSEMBL: ENSMUSP00000103851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017567] [ENSMUST00000053740] [ENSMUST00000108216] [ENSMUST00000153824] [ENSMUST00000165565] [ENSMUST00000178665] [ENSMUST00000188489]

AlphaFold

Q9JMD0

Predicted Effect

probably benign
Transcript: ENSMUST00000017567

SMART Domains

Protein: ENSMUSP00000017567
Gene: ENSMUSG00000017421

Domain	Start	End	E-Value	Type
ZnF_C2H2	11	34	3.29e1	SMART
ZnF_C2H2	35	58	2.29e0	SMART
low complexity region	98	126	N/A	INTRINSIC
low complexity region	145	184	N/A	INTRINSIC
low complexity region	200	237	N/A	INTRINSIC
low complexity region	252	269	N/A	INTRINSIC
low complexity region	274	286	N/A	INTRINSIC
low complexity region	295	310	N/A	INTRINSIC
low complexity region	312	350	N/A	INTRINSIC
low complexity region	379	424	N/A	INTRINSIC
low complexity region	429	458	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053740
AA Change: S293N

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000054168
Gene: ENSMUSG00000017421
AA Change: S293N

Domain	Start	End	E-Value	Type
ZnF_C2H2	11	34	3.29e1	SMART
ZnF_C2H2	35	58	2.29e0	SMART
low complexity region	98	126	N/A	INTRINSIC
low complexity region	145	184	N/A	INTRINSIC
low complexity region	200	237	N/A	INTRINSIC
low complexity region	252	269	N/A	INTRINSIC
low complexity region	283	300	N/A	INTRINSIC
low complexity region	306	313	N/A	INTRINSIC
low complexity region	326	341	N/A	INTRINSIC
low complexity region	343	381	N/A	INTRINSIC
low complexity region	410	455	N/A	INTRINSIC
low complexity region	460	489	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108216
AA Change: S293N

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103851
Gene: ENSMUSG00000017421
AA Change: S293N

Domain	Start	End	E-Value	Type
ZnF_C2H2	11	34	3.29e1	SMART
ZnF_C2H2	35	58	2.29e0	SMART
low complexity region	98	126	N/A	INTRINSIC
low complexity region	145	184	N/A	INTRINSIC
low complexity region	200	237	N/A	INTRINSIC
low complexity region	252	269	N/A	INTRINSIC
low complexity region	283	300	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000123726
AA Change: S139N

Predicted Effect

probably benign
Transcript: ENSMUST00000153824

SMART Domains

Protein: ENSMUSP00000115924
Gene: ENSMUSG00000017421

Domain	Start	End	E-Value	Type
ZnF_C2H2	3	23	1.34e2	SMART
ZnF_C2H2	24	47	2.29e0	SMART
low complexity region	87	115	N/A	INTRINSIC
low complexity region	134	173	N/A	INTRINSIC
low complexity region	189	226	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165565
AA Change: S277N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000132968
Gene: ENSMUSG00000017421
AA Change: S277N

Domain	Start	End	E-Value	Type
ZnF_C2H2	11	34	3.29e1	SMART
ZnF_C2H2	35	58	2.29e0	SMART
low complexity region	98	126	N/A	INTRINSIC
low complexity region	145	221	N/A	INTRINSIC
low complexity region	236	253	N/A	INTRINSIC
low complexity region	267	284	N/A	INTRINSIC
low complexity region	290	297	N/A	INTRINSIC
low complexity region	310	325	N/A	INTRINSIC
low complexity region	327	365	N/A	INTRINSIC
low complexity region	394	439	N/A	INTRINSIC
low complexity region	444	473	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178665

SMART Domains

Protein: ENSMUSP00000136727
Gene: ENSMUSG00000017421

Domain	Start	End	E-Value	Type
ZnF_C2H2	11	34	3.29e1	SMART
ZnF_C2H2	35	58	2.29e0	SMART
low complexity region	98	126	N/A	INTRINSIC
low complexity region	145	184	N/A	INTRINSIC
low complexity region	200	237	N/A	INTRINSIC
low complexity region	252	269	N/A	INTRINSIC
low complexity region	274	286	N/A	INTRINSIC
low complexity region	295	310	N/A	INTRINSIC
low complexity region	312	350	N/A	INTRINSIC
low complexity region	379	424	N/A	INTRINSIC
low complexity region	429	458	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188489

SMART Domains

Protein: ENSMUSP00000139653
Gene: ENSMUSG00000017421

Domain	Start	End	E-Value	Type
ZnF_C2H2	11	34	3.29e1	SMART
ZnF_C2H2	35	58	2.29e0	SMART
low complexity region	98	126	N/A	INTRINSIC
low complexity region	145	184	N/A	INTRINSIC
low complexity region	200	237	N/A	INTRINSIC
low complexity region	252	269	N/A	INTRINSIC
low complexity region	274	286	N/A	INTRINSIC
low complexity region	295	310	N/A	INTRINSIC
low complexity region	312	350	N/A	INTRINSIC
low complexity region	379	424	N/A	INTRINSIC
low complexity region	429	458	N/A	INTRINSIC

Meta Mutation Damage Score

0.0582

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

95% (55/58)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010L04Rik	T	C	7: 82,505,606 (GRCm39)		noncoding transcript	Het
9330159F19Rik	A	T	10: 29,101,250 (GRCm39)	D541V	probably damaging	Het
Abcc5	T	C	16: 20,218,597 (GRCm39)	I262V	probably damaging	Het
Acvr1c	T	A	2: 58,185,976 (GRCm39)	D169V	probably damaging	Het
Aldh16a1	A	G	7: 44,803,889 (GRCm39)	V6A	probably benign	Het
Brd10	A	G	19: 29,731,210 (GRCm39)	S601P	possibly damaging	Het
Cd36	A	C	5: 18,019,763 (GRCm39)	S113A	probably damaging	Het
Cdt1	G	T	8: 123,296,947 (GRCm39)	R247L	possibly damaging	Het
Ces4a	G	A	8: 105,872,712 (GRCm39)	V322M	probably benign	Het
Cngb3	A	T	4: 19,364,266 (GRCm39)	T157S	possibly damaging	Het
Cpped1	T	C	16: 11,646,010 (GRCm39)		probably benign	Het
Ctr9	G	T	7: 110,654,751 (GRCm39)	R1094L	unknown	Het
Cyld	A	T	8: 89,461,554 (GRCm39)	I664L	probably benign	Het
Dvl2	C	T	11: 69,900,275 (GRCm39)	P690S	possibly damaging	Het
Fbxo7	A	C	10: 85,864,974 (GRCm39)	E94D	probably damaging	Het
Fstl5	A	C	3: 76,496,399 (GRCm39)	K387N	probably damaging	Het
Gm9845	A	C	3: 39,412,520 (GRCm39)		noncoding transcript	Het
Hk1	T	C	10: 62,111,523 (GRCm39)	D746G	probably damaging	Het
Lmbr1	A	G	5: 29,468,391 (GRCm39)		probably null	Het
Lrp2	C	T	2: 69,350,258 (GRCm39)	A705T	probably null	Het
Lrrc37	T	C	11: 103,508,300 (GRCm39)		probably benign	Het
Mybpc3	A	G	2: 90,952,067 (GRCm39)		probably null	Het
Myo15b	T	A	11: 115,762,337 (GRCm39)	L1219Q	probably damaging	Het
Naa35	G	A	13: 59,770,680 (GRCm39)		probably benign	Het
Or4g16	G	T	2: 111,137,392 (GRCm39)	A281S	possibly damaging	Het
Or5b111	A	T	19: 13,291,553 (GRCm39)	I32N	probably damaging	Het
Or5b113	T	C	19: 13,342,541 (GRCm39)	V183A	probably damaging	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Pcnt	T	C	10: 76,221,675 (GRCm39)	T1984A	probably benign	Het
Plcg1	T	C	2: 160,593,588 (GRCm39)	L251P	probably benign	Het
Plin1	T	A	7: 79,371,320 (GRCm39)	D468V	probably benign	Het
Pmp2	A	G	3: 10,248,845 (GRCm39)	V12A	probably benign	Het
Rnf19a	T	A	15: 36,266,109 (GRCm39)		probably benign	Het
Rnf214	G	A	9: 45,779,344 (GRCm39)	Q469*	probably null	Het
Rrp1b	T	G	17: 32,274,985 (GRCm39)		probably benign	Het
Rtl1	C	T	12: 109,561,113 (GRCm39)	R242Q	unknown	Het
Sema3e	A	T	5: 14,275,567 (GRCm39)	E224V	probably damaging	Het
Sphkap	A	G	1: 83,385,720 (GRCm39)	S5P	probably damaging	Het
Stab1	A	C	14: 30,879,397 (GRCm39)	Y694*	probably null	Het
Stambpl1	T	C	19: 34,211,686 (GRCm39)	L249P	probably benign	Het
Thap4	A	T	1: 93,642,665 (GRCm39)	H515Q	probably damaging	Het
Ticam1	TCACACA	TCACA	17: 56,577,629 (GRCm39)		probably null	Het
Uaca	A	G	9: 60,779,380 (GRCm39)	R1256G	probably benign	Het
Usp17lb	T	A	7: 104,489,881 (GRCm39)	N348Y	possibly damaging	Het
Vmn1r42	A	G	6: 89,822,314 (GRCm39)	I85T	probably benign	Het
Vps9d1	A	T	8: 123,975,598 (GRCm39)	L149Q	probably damaging	Het
Zdhhc17	A	T	10: 110,809,694 (GRCm39)	I153N	probably damaging	Het
Zfp346	A	G	13: 55,270,170 (GRCm39)	D198G	probably damaging	Het
Zfp953	A	T	13: 67,491,536 (GRCm39)	C139S	possibly damaging	Het

Other mutations in Zfp207

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Zfp207	APN	11	80,279,828 (GRCm39)	missense	probably benign	0.42
IGL00402:Zfp207	APN	11	80,283,911 (GRCm39)	missense	probably benign	0.07
IGL01610:Zfp207	APN	11	80,276,796 (GRCm39)	missense	probably damaging	1.00
R0440:Zfp207	UTSW	11	80,286,333 (GRCm39)	unclassified	probably benign
R1926:Zfp207	UTSW	11	80,286,253 (GRCm39)	nonsense	probably null
R4614:Zfp207	UTSW	11	80,286,016 (GRCm39)	unclassified	probably benign
R5103:Zfp207	UTSW	11	80,282,736 (GRCm39)	missense	probably damaging	1.00
R6845:Zfp207	UTSW	11	80,286,317 (GRCm39)	unclassified	probably benign
R6919:Zfp207	UTSW	11	80,286,329 (GRCm39)	unclassified	probably benign
R7131:Zfp207	UTSW	11	80,286,354 (GRCm39)	missense	unknown
R7216:Zfp207	UTSW	11	80,286,004 (GRCm39)	missense	unknown
R7672:Zfp207	UTSW	11	80,280,116 (GRCm39)	missense	probably benign	0.27
R7836:Zfp207	UTSW	11	80,282,726 (GRCm39)	missense	probably damaging	1.00
R8913:Zfp207	UTSW	11	80,276,744 (GRCm39)	missense	probably damaging	0.98
R9662:Zfp207	UTSW	11	80,286,029 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGCATTTGCATAGAGAACTGTC -3'
(R):5'- ACCCTTTAGAGCCACAGAAGTTTAG -3'

Sequencing Primer
(F):5'- TGCATAGAGAACTGTCATTTGGAG -3'
(R):5'- GCAACTTCCTGCGTACTT -3'

Posted On

2016-11-08