Mutagenetix > Incidental Mutation

Incidental Mutation 'R0505:Zfp707'

47520

Institutional Source

Beutler Lab

Gene Symbol

Zfp707

Ensembl Gene

ENSMUSG00000034429

Gene Name

zinc finger protein 707

Synonyms

MMRRC Submission

038700-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R0505 (G1)

Quality Score

194

Status

Validated

Chromosome

Chromosomal Location

75969123-75975868 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75975256 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 312 (H312L)

Ref Sequence

ENSEMBL: ENSMUSP00000154921 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109966] [ENSMUST00000109967] [ENSMUST00000182172] [ENSMUST00000183130] [ENSMUST00000229652]

AlphaFold

D3Z445

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109966
AA Change: H379L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105592
Gene: ENSMUSG00000034429
AA Change: H379L

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
KRAB	39	99	2.42e-31	SMART
ZnF_C2H2	189	211	9.96e-1	SMART
ZnF_C2H2	217	239	9.08e-4	SMART
ZnF_C2H2	245	267	3.58e-2	SMART
ZnF_C2H2	273	295	1.04e-3	SMART
ZnF_C2H2	301	323	2.09e-3	SMART
ZnF_C2H2	329	351	9.58e-3	SMART
ZnF_C2H2	357	379	1.28e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109967
AA Change: H333L

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

SMART Domains

Protein: ENSMUSP00000105593
Gene: ENSMUSG00000034429
AA Change: H333L

Domain	Start	End	E-Value	Type
KRAB	4	53	3.59e-16	SMART
ZnF_C2H2	143	165	9.96e-1	SMART
ZnF_C2H2	171	193	9.08e-4	SMART
ZnF_C2H2	199	221	3.58e-2	SMART
ZnF_C2H2	227	249	1.04e-3	SMART
ZnF_C2H2	255	277	2.09e-3	SMART
ZnF_C2H2	283	305	9.58e-3	SMART
ZnF_C2H2	311	333	1.28e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131496

Predicted Effect

probably benign
Transcript: ENSMUST00000145100

SMART Domains

Protein: ENSMUSP00000120565
Gene: ENSMUSG00000034429

Domain	Start	End	E-Value	Type
KRAB	23	83	2.42e-31	SMART
ZnF_C2H2	173	195	9.96e-1	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000147641
AA Change: H385L

SMART Domains

Protein: ENSMUSP00000119705
Gene: ENSMUSG00000034429
AA Change: H385L

Domain	Start	End	E-Value	Type
low complexity region	1	15	N/A	INTRINSIC
KRAB	46	106	2.42e-31	SMART
ZnF_C2H2	196	218	9.96e-1	SMART
ZnF_C2H2	224	246	9.08e-4	SMART
ZnF_C2H2	252	274	3.58e-2	SMART
ZnF_C2H2	280	302	1.04e-3	SMART
ZnF_C2H2	308	330	2.09e-3	SMART
ZnF_C2H2	336	358	9.58e-3	SMART
ZnF_C2H2	364	386	1.28e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156444

Predicted Effect

probably benign
Transcript: ENSMUST00000182172

SMART Domains

Protein: ENSMUSP00000138510
Gene: ENSMUSG00000098176

Domain	Start	End	E-Value	Type
Pfam:DUF4515	67	146	9.4e-6	PFAM
low complexity region	180	189	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183130

SMART Domains

Protein: ENSMUSP00000138115
Gene: ENSMUSG00000098176

Domain	Start	End	E-Value	Type
Pfam:DUF4515	67	260	2.3e-25	PFAM
low complexity region	265	288	N/A	INTRINSIC
low complexity region	433	444	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000229652
AA Change: H312L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.8776

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

98% (119/121)

Allele List at MGI

Other mutations in this stock

Total: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,291,058	Y974H	probably benign	Het
Abca2	G	T	2: 25,434,894	G300V	probably benign	Het
Abi1	A	G	2: 22,962,504		probably benign	Het
Actr10	T	A	12: 70,959,964	Y332N	probably damaging	Het
Adam25	G	T	8: 40,755,224	C509F	probably damaging	Het
Adck1	A	T	12: 88,371,691		probably benign	Het
Adgra3	A	G	5: 50,009,334		probably null	Het
Adgrl1	G	T	8: 83,934,650		probably benign	Het
Akr1c21	A	G	13: 4,576,307	Y110C	probably damaging	Het
Arhgef25	T	C	10: 127,183,697	I463V	probably null	Het
Atp6v1e2	C	T	17: 86,944,578	V131M	probably benign	Het
Bdnf	A	G	2: 109,675,343		probably null	Het
C7	A	T	15: 4,994,142		probably benign	Het
Cdc27	T	C	11: 104,528,288	T273A	probably benign	Het
Cdo1	T	A	18: 46,715,611	I187F	probably benign	Het
Cep104	A	T	4: 153,996,304	T742S	probably benign	Het
Ckm	A	T	7: 19,419,452	K223*	probably null	Het
Cmtr1	C	T	17: 29,676,285	P586L	probably benign	Het
Csmd1	C	T	8: 15,992,758	R2325Q	probably damaging	Het
Dcpp1	A	T	17: 23,882,594	I106L	possibly damaging	Het
Diaph3	A	C	14: 87,090,964		probably benign	Het
Dnah11	A	G	12: 118,106,510	V1520A	probably damaging	Het
Dnajc25	T	A	4: 59,020,438	M168K		Het
Dpp3	T	C	19: 4,914,654	N542D	probably damaging	Het
Ebf2	A	T	14: 67,371,736	K199*	probably null	Het
Efcab11	T	A	12: 99,719,035	Q160L	probably benign	Het
Eif2ak4	T	A	2: 118,431,036	S686T	probably benign	Het
Epha6	C	T	16: 60,205,732	S449N	possibly damaging	Het
Ercc4	T	C	16: 13,126,467	V329A	probably benign	Het
Faf1	T	C	4: 109,840,403	F309L	possibly damaging	Het
Fam102b	T	C	3: 108,980,204	E248G	probably benign	Het
G6pd2	C	A	5: 61,809,567	D228E	probably benign	Het
Ggt1	T	G	10: 75,585,957	V546G	probably damaging	Het
Gm14139	T	A	2: 150,193,080	C471*	probably null	Het
Gpatch4	G	T	3: 88,051,217	V3F	probably damaging	Het
Gprin3	A	G	6: 59,353,387	L645P	probably damaging	Het
Hyal2	A	G	9: 107,572,071	Y342C	probably benign	Het
Igf2bp2	A	G	16: 22,089,099	I16T	possibly damaging	Het
Inca1	T	C	11: 70,690,199	Y61C	probably damaging	Het
Ipo5	T	C	14: 120,942,733	W860R	possibly damaging	Het
Kcnj9	C	T	1: 172,323,024	A341T	probably benign	Het
Kdm5b	T	C	1: 134,602,571	V440A	probably damaging	Het
L3mbtl1	C	T	2: 162,947,335		probably benign	Het
Lin54	G	A	5: 100,452,293	T307I	probably damaging	Het
Lrrc18	C	A	14: 33,009,139	Q212K	probably benign	Het
Lrrc37a	A	G	11: 103,503,025	S525P	probably benign	Het
Lrrc71	T	A	3: 87,745,699	S137C	probably damaging	Het
Lrrk1	A	T	7: 66,290,908		probably null	Het
Man2b2	G	A	5: 36,816,198	S58L	probably benign	Het
Masp1	T	A	16: 23,458,138	H539L	probably benign	Het
Med1	G	A	11: 98,156,904	P1022L	probably damaging	Het
Meis1	T	A	11: 19,011,360	H171L	probably damaging	Het
Mier1	T	A	4: 103,155,623		probably benign	Het
Mkl2	C	T	16: 13,412,526	T1025I	possibly damaging	Het
Mmp13	A	T	9: 7,272,929	R96S	probably damaging	Het
Mms19	G	A	19: 41,953,734	T38I	probably damaging	Het
Mrc1	G	A	2: 14,310,032	C976Y	probably damaging	Het
Naalad2	A	G	9: 18,385,895	Y32H	probably benign	Het
Ndufs1	A	G	1: 63,143,926		probably benign	Het
Nefm	C	T	14: 68,124,159	D219N	probably damaging	Het
Nwd1	C	T	8: 72,662,337	P172L	probably damaging	Het
Nwd2	T	A	5: 63,805,111	D679E	probably damaging	Het
Ogdh	T	A	11: 6,339,936		probably benign	Het
Olfm3	T	A	3: 115,122,681	S421T	possibly damaging	Het
Olfr1281	A	T	2: 111,329,328	N303I	probably benign	Het
Olfr1445	T	C	19: 12,884,079	L66P	probably damaging	Het
Olfr1445	A	G	19: 12,884,546	T222A	probably damaging	Het
Olfr559	T	A	7: 102,724,029	I154F	probably damaging	Het
Olfr628	T	C	7: 103,732,376	V150A	probably benign	Het
Olfr988	A	G	2: 85,353,749	M59T	possibly damaging	Het
Opn5	T	G	17: 42,592,953	T164P	possibly damaging	Het
Pde7b	C	T	10: 20,438,746	V166M	probably damaging	Het
Pik3ap1	T	C	19: 41,324,564	N370S	probably damaging	Het
Pkhd1l1	A	T	15: 44,589,418	D3913V	probably damaging	Het
Pld1	A	G	3: 28,120,822	I90V	possibly damaging	Het
Plxna2	A	G	1: 194,644,348	T197A	possibly damaging	Het
Plxna4	A	T	6: 32,202,119	M987K	probably benign	Het
Pmch	A	G	10: 88,091,359	N75D	probably benign	Het
Prom2	T	A	2: 127,532,867	Q583L	possibly damaging	Het
Pyroxd1	T	A	6: 142,353,562	M148K	possibly damaging	Het
R3hdm2	C	T	10: 127,457,700	L158F	probably damaging	Het
Rapgef6	A	T	11: 54,625,963	T349S	probably benign	Het
Rfx5	C	T	3: 94,956,355	T105I	probably damaging	Het
Rif1	C	A	2: 52,110,737	P1401Q	probably damaging	Het
Robo3	G	A	9: 37,416,759		probably benign	Het
Rpn1	T	A	6: 88,090,242	S195T	probably benign	Het
Rslcan18	C	A	13: 67,102,119	K17N	probably benign	Het
Rsph3b	A	T	17: 6,941,727	I48N	probably damaging	Het
Sbf2	A	T	7: 110,399,343	Y628N	probably damaging	Het
Sis	T	C	3: 72,960,296	T139A	probably benign	Het
Slc22a14	A	G	9: 119,172,034		probably benign	Het
Slitrk6	A	T	14: 110,749,932	L781H	probably damaging	Het
Smarcb1	T	C	10: 75,897,066	T372A	probably damaging	Het
Spidr	T	A	16: 16,037,667	H328L	probably damaging	Het
Sun5	T	A	2: 153,870,952	D16V	probably damaging	Het
Syde2	G	A	3: 146,014,380	E1053K	possibly damaging	Het
Syne2	T	C	12: 76,099,464	S6419P	probably damaging	Het
Tenm3	G	A	8: 48,341,160		probably benign	Het
Timm44	C	A	8: 4,260,532	E407*	probably null	Het
Tmem189	A	T	2: 167,644,987		probably benign	Het
Tnpo2	A	G	8: 85,047,362	T342A	probably benign	Het
Trio	A	G	15: 27,767,907	C1964R	probably benign	Het
Trip11	A	C	12: 101,885,672	L711R	probably damaging	Het
Trp53bp1	A	T	2: 121,269,969	H101Q	probably damaging	Het
Trpm6	A	G	19: 18,873,902		probably benign	Het
Ttn	A	T	2: 76,849,991		probably benign	Het
Ucp1	T	A	8: 83,295,307	M256K	possibly damaging	Het
Uhrf1bp1l	T	C	10: 89,791,443	S145P	probably damaging	Het
Unc5a	T	A	13: 55,004,954	S838T	probably damaging	Het
Uxs1	T	C	1: 43,764,886		probably null	Het
Vmn2r108	A	T	17: 20,462,834	C703S	possibly damaging	Het
Zc3hav1	C	T	6: 38,332,664	G408R	probably damaging	Het
Zfp609	G	A	9: 65,703,462	L740F	possibly damaging	Het
Zfp69	T	C	4: 120,931,095	E341G	probably damaging	Het
Zfp773	T	C	7: 7,133,024	D191G	probably benign	Het
Zgrf1	C	A	3: 127,573,238	D755E	probably benign	Het
Zscan5b	T	A	7: 6,239,075	I431N	probably damaging	Het

Other mutations in Zfp707

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01110:Zfp707	APN	15	75975195	missense	probably damaging	1.00
R0638:Zfp707	UTSW	15	75975129	missense	possibly damaging	0.80
R1389:Zfp707	UTSW	15	75974616	missense	probably damaging	0.99
R4806:Zfp707	UTSW	15	75973151	nonsense	probably null
R6810:Zfp707	UTSW	15	75974899	missense	probably damaging	1.00
R6823:Zfp707	UTSW	15	75969723	unclassified	probably benign
R7105:Zfp707	UTSW	15	75974746	missense
R7124:Zfp707	UTSW	15	75973549	nonsense	probably null
R7164:Zfp707	UTSW	15	75975118	missense	possibly damaging	0.86
R8549:Zfp707	UTSW	15	75974698	missense	probably benign	0.15
R9124:Zfp707	UTSW	15	75973619	missense
R9668:Zfp707	UTSW	15	75975236	missense	possibly damaging	0.83
R9758:Zfp707	UTSW	15	75973569	missense
Z1177:Zfp707	UTSW	15	75975114	missense

Predicted Primers

PCR Primer
(F):5'- TTCGGACTAAGGAGAACCTCAGCC -3'
(R):5'- TGCTTCTGCACGAGCCTCAAAC -3'

Sequencing Primer
(F):5'- CCACCAGCGGATTCACAG -3'
(R):5'- GGCAAATTCCTTGGCAGAC -3'

Posted On

2013-06-12