Mutagenetix > Incidental Mutation

Incidental Mutation 'R7164:Zfp707'

557821

Institutional Source

Beutler Lab

Gene Symbol

Zfp707

Ensembl Gene

ENSMUSG00000034429

Gene Name

zinc finger protein 707

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75969123-75975868 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75975118 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 339 (E339G)

Gene Model

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

AlphaFold

D3Z445

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109966
AA Change: E333G

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105592
Gene: ENSMUSG00000034429
AA Change: E333G

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

possibly damaging
Transcript: ENSMUST00000109967
AA Change: E287G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105593
Gene: ENSMUSG00000034429
AA Change: E287G

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

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

possibly damaging
Transcript: ENSMUST00000147641
AA Change: E339G

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119705
Gene: ENSMUSG00000034429
AA Change: E339G

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

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

possibly damaging
Transcript: ENSMUST00000229652
AA Change: E266G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	C	A	4: 107,894,890	D155E	not run	Het
4932415D10Rik	G	A	10: 82,286,229	T3649I	probably damaging	Het
Actn2	G	A	13: 12,278,961	H558Y	probably damaging	Het
Akap9	G	C	5: 4,060,364	E3022D	probably damaging	Het
Anapc2	C	T	2: 25,284,999	R710C	probably damaging	Het
Bcl6	G	A	16: 23,966,226	R675*	probably null	Het
Carmil3	A	G	14: 55,501,282	E844G	probably damaging	Het
Cdk17	T	G	10: 93,232,481	S367A	probably benign	Het
Cfap206	T	A	4: 34,719,656	M253L	probably benign	Het
Chd3	T	G	11: 69,362,306	K228Q	probably damaging	Het
Cit	T	A	5: 115,985,787	I1503N	possibly damaging	Het
Csn1s1	A	G	5: 87,674,228	N119S	possibly damaging	Het
Degs1	A	G	1: 182,279,125	S226P	probably damaging	Het
Espl1	T	C	15: 102,313,203	W976R	probably damaging	Het
Fbxl4	C	T	4: 22,386,218	P275L	probably benign	Het
Flnb	A	G	14: 7,915,944		probably null	Het
Gm996	T	A	2: 25,578,567	H444L	possibly damaging	Het
Gnptab	T	A	10: 88,434,070	Y878*	probably null	Het
Gpr89	A	T	3: 96,871,398	M453K	probably benign	Het
Igsf5	A	T	16: 96,372,848	Q26L	possibly damaging	Het
Inpp5e	T	A	2: 26,407,983	D202V	possibly damaging	Het
Itga3	C	T	11: 95,052,479	V931M	possibly damaging	Het
Kcnab3	T	C	11: 69,331,358		probably null	Het
Klk4	T	C	7: 43,881,698	I17T	possibly damaging	Het
Lrrc73	T	C	17: 46,256,243	L206P	probably damaging	Het
Manba	A	T	3: 135,542,388	N346I	probably damaging	Het
Map4k4	T	C	1: 39,973,972	Y76H	possibly damaging	Het
Map4k5	T	C	12: 69,830,436	T312A	probably benign	Het
Masp2	A	G	4: 148,610,115		probably null	Het
Mast1	T	C	8: 84,935,304	D63G	possibly damaging	Het
Mtf2	T	A	5: 108,093,369	S254T	possibly damaging	Het
Myo16	A	T	8: 10,569,585	T1379S	unknown	Het
Myo5a	A	G	9: 75,180,153	E1097G	probably benign	Het
Nat1	T	C	8: 67,491,677	V238A	possibly damaging	Het
Nhlrc2	A	G	19: 56,592,499	D493G	probably damaging	Het
Olfr1165-ps	T	C	2: 88,101,832	K52E	probably damaging	Het
Olfr1331	C	T	4: 118,869,725	P315S	probably benign	Het
Olfr1462	A	T	19: 13,190,906	M80L	probably benign	Het
Olfr291	A	G	7: 84,857,043	I227V	possibly damaging	Het
Olfr50	T	C	2: 36,793,697	S154P	probably benign	Het
Olfr919	A	G	9: 38,698,219	I49T	possibly damaging	Het
Pcsk5	C	T	19: 17,451,985	C1543Y	probably damaging	Het
Pde4d	A	G	13: 109,032,688	D88G	probably benign	Het
Pld5	A	T	1: 176,213,621	M1K	probably null	Het
Prmt6	A	G	3: 110,250,364	M203T	probably benign	Het
Prr14l	A	T	5: 32,829,166	V995D	probably damaging	Het
Psg18	T	C	7: 18,350,937	E199G	possibly damaging	Het
Pth1r	A	G	9: 110,723,747	I439T	possibly damaging	Het
Ptprc	T	A	1: 138,117,862	I87F	probably benign	Het
Slc44a1	T	C	4: 53,528,711	S154P	probably benign	Het
Slco1c1	T	A	6: 141,542,129	Y192*	probably null	Het
Spag16	A	G	1: 70,724,866	H615R	possibly damaging	Het
Tas2r114	G	A	6: 131,689,765	A100V	possibly damaging	Het
U2af1l4	T	C	7: 30,565,119	S103P	probably benign	Het
Usp10	T	C	8: 119,942,108	S383P	probably damaging	Het
Vmn2r113	A	G	17: 22,948,163	R505G	probably benign	Het
Vmn2r75	A	C	7: 86,165,384	D300E	probably damaging	Het
Zfp318	T	A	17: 46,397,306		probably null	Het
Zfp318	T	C	17: 46,405,939	V999A	probably damaging	Het
Zfp324	A	T	7: 12,968,883	H58L	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
R0505:Zfp707	UTSW	15	75975256	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
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'- GAAAAGCCCTTCTGCTGTGAG -3'
(R):5'- CAGGACCTGCTACACTTCTC -3'

Sequencing Primer
(F):5'- TTCAGCTTGAAGGACCGC -3'
(R):5'- ACTTCTCCTCGCCCGTGAG -3'

Posted On

2019-06-26