Mutagenetix > Incidental Mutation

Incidental Mutation 'R1572:Zfp790'

170844

Institutional Source

Beutler Lab

Gene Symbol

Zfp790

Ensembl Gene

ENSMUSG00000011427

Gene Name

zinc finger protein 790

Synonyms

6330581L23Rik

MMRRC Submission

039611-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R1572 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29515539-29530430 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29527564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 83 (Q83L)

Ref Sequence

ENSEMBL: ENSMUSP00000136932 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032796] [ENSMUST00000178162] [ENSMUST00000207328]

AlphaFold

Q80ZX2

Predicted Effect

probably benign
Transcript: ENSMUST00000032796
AA Change: Q83L

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000032796
Gene: ENSMUSG00000011427
AA Change: Q83L

Domain	Start	End	E-Value	Type
KRAB	5	65	3e-27	SMART
ZnF_C2H2	224	246	2.95e-3	SMART
ZnF_C2H2	252	274	2.53e-2	SMART
ZnF_C2H2	280	302	5.5e-3	SMART
ZnF_C2H2	308	330	2.75e-3	SMART
ZnF_C2H2	336	358	2.12e-4	SMART
ZnF_C2H2	364	386	1.03e-2	SMART
Pfam:zf-C2H2_6	391	403	2.4e-1	PFAM
ZnF_C2H2	448	470	9.56e1	SMART
ZnF_C2H2	476	498	7.26e-3	SMART
ZnF_C2H2	504	526	2.57e-3	SMART
ZnF_C2H2	532	554	6.42e-4	SMART
ZnF_C2H2	640	662	1.12e-3	SMART
ZnF_C2H2	668	690	2.12e-4	SMART
ZnF_C2H2	696	718	1.98e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000178162
AA Change: Q83L

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000136932
Gene: ENSMUSG00000011427
AA Change: Q83L

Domain	Start	End	E-Value	Type
KRAB	5	65	3e-27	SMART
ZnF_C2H2	224	246	2.95e-3	SMART
ZnF_C2H2	252	274	2.53e-2	SMART
ZnF_C2H2	280	302	5.5e-3	SMART
ZnF_C2H2	308	330	2.75e-3	SMART
ZnF_C2H2	336	358	2.12e-4	SMART
ZnF_C2H2	364	386	1.03e-2	SMART
ZnF_C2H2	448	470	9.56e1	SMART
ZnF_C2H2	476	498	7.26e-3	SMART
ZnF_C2H2	504	526	2.57e-3	SMART
ZnF_C2H2	532	554	6.42e-4	SMART
ZnF_C2H2	640	662	1.12e-3	SMART
ZnF_C2H2	668	690	2.12e-4	SMART
ZnF_C2H2	696	718	1.98e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207328

Meta Mutation Damage Score

0.1824

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 92.9%
20x: 80.7%

Validation Efficiency

97% (130/134)

Allele List at MGI

Other mutations in this stock

Total: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310030G06Rik	G	A	9: 50,651,973 (GRCm39)	T85M	probably damaging	Het
Actn1	A	G	12: 80,219,731 (GRCm39)		probably benign	Het
Afap1l1	A	T	18: 61,870,570 (GRCm39)	S603T	probably damaging	Het
Ahcy	T	C	2: 154,910,851 (GRCm39)	Y39C	probably benign	Het
Ankmy2	T	C	12: 36,236,941 (GRCm39)		probably null	Het
Anxa13	A	T	15: 58,220,655 (GRCm39)		noncoding transcript	Het
Aoc1	T	C	6: 48,882,720 (GRCm39)	S221P	possibly damaging	Het
Arhgef10	C	A	8: 15,041,211 (GRCm39)	A770D	possibly damaging	Het
Arhgef19	A	G	4: 140,982,065 (GRCm39)	D707G	probably benign	Het
Arhgef3	G	A	14: 27,123,692 (GRCm39)	R444H	probably damaging	Het
Asphd1	T	C	7: 126,548,271 (GRCm39)	I11V	probably benign	Het
Atp2b1	A	G	10: 98,830,537 (GRCm39)	M333V	probably benign	Het
BC051665	T	C	13: 60,932,841 (GRCm39)	Y40C	probably damaging	Het
Ccdc87	T	A	19: 4,890,341 (GRCm39)	S278T	probably benign	Het
Ccn3	T	A	15: 54,612,648 (GRCm39)	M219K	possibly damaging	Het
Cdcp3	T	A	7: 130,846,560 (GRCm39)	Y777*	probably null	Het
Chaf1b	G	A	16: 93,698,118 (GRCm39)	G463D	possibly damaging	Het
Chrna4	T	C	2: 180,671,100 (GRCm39)	T219A	possibly damaging	Het
Clcnkb	T	G	4: 141,134,406 (GRCm39)	T584P	possibly damaging	Het
Clptm1l	T	C	13: 73,755,866 (GRCm39)	S161P	probably benign	Het
Cmya5	T	C	13: 93,230,777 (GRCm39)	E1437G	possibly damaging	Het
Col13a1	A	T	10: 61,702,205 (GRCm39)		probably null	Het
Col3a1	T	C	1: 45,385,128 (GRCm39)	S82P	possibly damaging	Het
Cpeb3	A	T	19: 37,116,482 (GRCm39)	M383K	probably benign	Het
Cr2	T	A	1: 194,845,622 (GRCm39)	H111L	probably damaging	Het
Cttnbp2	T	C	6: 18,375,974 (GRCm39)	S1522G	possibly damaging	Het
Cul3	T	C	1: 80,260,506 (GRCm39)	D281G	possibly damaging	Het
Cyp2c70	T	G	19: 40,172,426 (GRCm39)	K72T	probably benign	Het
Cyp39a1	A	T	17: 43,991,020 (GRCm39)	I110F	probably damaging	Het
Cyp46a1	T	A	12: 108,318,198 (GRCm39)	M203K	probably null	Het
Cyp8b1	A	T	9: 121,744,024 (GRCm39)	V436D	possibly damaging	Het
Ddx17	T	C	15: 79,422,766 (GRCm39)	D324G	probably damaging	Het
Dop1b	A	G	16: 93,567,041 (GRCm39)	N1274S	probably damaging	Het
Dscaml1	G	A	9: 45,632,631 (GRCm39)	V1166I	probably benign	Het
Dsp	T	C	13: 38,379,714 (GRCm39)	V1554A	probably damaging	Het
Efr3a	T	A	15: 65,726,641 (GRCm39)		probably null	Het
Egfem1	A	T	3: 29,702,420 (GRCm39)	N223I	probably benign	Het
Egr2	T	C	10: 67,375,805 (GRCm39)	S147P	probably damaging	Het
Elmo3	A	G	8: 106,034,933 (GRCm39)	T408A	probably benign	Het
Flnb	A	G	14: 7,883,908 (GRCm38)	D378G	probably damaging	Het
Foxj2	T	A	6: 122,810,220 (GRCm39)	M193K	probably benign	Het
Gm6327	A	G	16: 12,578,020 (GRCm39)		noncoding transcript	Het
Gm7694	T	C	1: 170,130,335 (GRCm39)	H21R	probably benign	Het
Gpr107	A	G	2: 31,057,037 (GRCm39)	D43G	probably damaging	Het
Grid2	T	A	6: 64,406,678 (GRCm39)	Y679*	probably null	Het
Grin2c	G	A	11: 115,146,900 (GRCm39)	P432S	possibly damaging	Het
H2-M10.1	A	G	17: 36,636,625 (GRCm39)	F60L	possibly damaging	Het
Hectd4	A	G	5: 121,439,941 (GRCm39)	D1147G	possibly damaging	Het
Idua	G	T	5: 108,828,455 (GRCm39)	A223S	probably benign	Het
Ifi206	T	C	1: 173,314,419 (GRCm39)	Q7R	probably benign	Het
Itgad	T	A	7: 127,802,406 (GRCm39)	V986E	probably damaging	Het
Itsn2	G	A	12: 4,700,044 (GRCm39)	R670H	probably benign	Het
Kdm4a	T	C	4: 117,996,146 (GRCm39)	E961G	possibly damaging	Het
Klra5	T	A	6: 129,883,585 (GRCm39)	I91L	probably damaging	Het
Kntc1	A	G	5: 123,910,176 (GRCm39)	T525A	probably damaging	Het
Lct	A	G	1: 128,221,932 (GRCm39)	F1536L	probably benign	Het
Lmod1	T	A	1: 135,291,671 (GRCm39)	D175E	probably benign	Het
Lonrf1	A	C	8: 36,701,126 (GRCm39)	D361E	probably benign	Het
Lrrc19	T	C	4: 94,526,666 (GRCm39)	Y297C	probably damaging	Het
Mast4	T	C	13: 102,873,431 (GRCm39)	E1787G	possibly damaging	Het
Mpp2	G	A	11: 101,951,374 (GRCm39)	A452V	probably benign	Het
Msh2	T	C	17: 88,026,080 (GRCm39)	V686A	possibly damaging	Het
Mthfd1	C	T	12: 76,317,193 (GRCm39)	Q15*	probably null	Het
Mtnr1b	A	T	9: 15,774,438 (GRCm39)	I207N	probably damaging	Het
Nid2	A	G	14: 19,855,480 (GRCm39)	T1207A	probably benign	Het
Nin	A	T	12: 70,085,524 (GRCm39)	V1569D	probably damaging	Het
Nrcam	T	A	12: 44,584,147 (GRCm39)		probably benign	Het
Nsd1	T	A	13: 55,394,782 (GRCm39)	H897Q	probably damaging	Het
Or10g9	A	G	9: 39,912,490 (GRCm39)	F11S	probably benign	Het
Or12d2	A	T	17: 37,624,371 (GRCm39)	N301K	probably benign	Het
Or2w2	T	A	13: 21,758,480 (GRCm39)	I49F	possibly damaging	Het
Or7d10	G	T	9: 19,832,208 (GRCm39)	K234N	probably benign	Het
Paip1	T	C	13: 119,588,320 (GRCm39)		probably benign	Het
Pcnx3	G	A	19: 5,735,375 (GRCm39)	R484*	probably null	Het
Pdxk	A	G	10: 78,283,814 (GRCm39)	Y127H	probably damaging	Het
Phf20	T	A	2: 156,129,754 (GRCm39)	V442E	probably benign	Het
Phlpp1	G	A	1: 106,320,519 (GRCm39)	D1505N	probably damaging	Het
Pkhd1	T	C	1: 20,417,664 (GRCm39)	T2496A	probably benign	Het
Pkhd1l1	A	G	15: 44,406,869 (GRCm39)	T2369A	probably benign	Het
Plod2	T	A	9: 92,485,120 (GRCm39)		probably benign	Het
Pnpla7	T	A	2: 24,905,263 (GRCm39)	M617K	possibly damaging	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Prkch	T	A	12: 73,696,131 (GRCm39)		probably null	Het
Prr12	G	A	7: 44,678,224 (GRCm39)	H1974Y	unknown	Het
Prr16	A	G	18: 51,436,042 (GRCm39)	I174V	probably benign	Het
Prss45	A	T	9: 110,667,497 (GRCm39)	T39S	probably benign	Het
Pum1	T	A	4: 130,445,515 (GRCm39)	D161E	probably damaging	Het
Rad51ap2	A	G	12: 11,507,113 (GRCm39)	D345G	probably damaging	Het
Ralgapb	A	G	2: 158,288,119 (GRCm39)		probably benign	Het
Rasgrp3	A	G	17: 75,807,729 (GRCm39)	H262R	possibly damaging	Het
Rnf213	T	A	11: 119,327,437 (GRCm39)	I1809N	probably damaging	Het
Ryr1	A	G	7: 28,761,616 (GRCm39)	L3177P	probably damaging	Het
Scyl2	C	A	10: 89,486,818 (GRCm39)	R230L	probably damaging	Het
Sfxn2	T	C	19: 46,570,915 (GRCm39)		probably benign	Het
Slc18b1	T	C	10: 23,674,639 (GRCm39)		probably benign	Het
Spata31d1d	T	C	13: 59,876,005 (GRCm39)	H510R	probably benign	Het
Stab1	A	T	14: 30,872,780 (GRCm39)	N1109K	probably damaging	Het
Styxl2	C	T	1: 165,927,024 (GRCm39)	V863M	possibly damaging	Het
Sult3a2	A	G	10: 33,657,973 (GRCm39)	S47P	probably damaging	Het
Tenm3	T	C	8: 48,682,028 (GRCm39)	N2518S	possibly damaging	Het
Tex21	G	T	12: 76,253,665 (GRCm39)	P416Q	probably benign	Het
Tex38	T	C	4: 115,637,503 (GRCm39)	N100S	probably benign	Het
Thsd4	A	C	9: 60,301,836 (GRCm39)		probably benign	Het
Ticrr	T	C	7: 79,331,572 (GRCm39)	V723A	probably damaging	Het
Tmprss15	A	G	16: 78,887,717 (GRCm39)	V30A	probably benign	Het
Uba3	A	G	6: 97,162,298 (GRCm39)		probably benign	Het
Ubr1	T	C	2: 120,765,800 (GRCm39)		probably benign	Het
Uchl4	A	T	9: 64,143,013 (GRCm39)	I165L	probably benign	Het
Vmn2r112	A	T	17: 22,822,125 (GRCm39)	T268S	possibly damaging	Het
Wfdc3	T	C	2: 164,586,114 (GRCm39)		probably benign	Het
Zfp282	T	A	6: 47,869,801 (GRCm39)	L282Q	probably damaging	Het
Zfp422	A	T	6: 116,603,745 (GRCm39)	C85S	probably damaging	Het

Other mutations in Zfp790

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Zfp790	APN	7	29,527,988 (GRCm39)	missense	probably benign	0.32
IGL00979:Zfp790	APN	7	29,529,034 (GRCm39)	missense	probably benign	0.00
IGL02286:Zfp790	APN	7	29,529,160 (GRCm39)	missense	possibly damaging	0.53
IGL03136:Zfp790	APN	7	29,529,320 (GRCm39)	nonsense	probably null
R0021:Zfp790	UTSW	7	29,525,113 (GRCm39)	unclassified	probably benign
R0077:Zfp790	UTSW	7	29,524,300 (GRCm39)	missense	probably damaging	0.98
R1477:Zfp790	UTSW	7	29,522,525 (GRCm39)	start gained	probably benign
R2015:Zfp790	UTSW	7	29,528,286 (GRCm39)	missense	probably benign	0.29
R4941:Zfp790	UTSW	7	29,528,916 (GRCm39)	missense	possibly damaging	0.83
R5019:Zfp790	UTSW	7	29,529,192 (GRCm39)	missense	probably benign	0.00
R5159:Zfp790	UTSW	7	29,529,192 (GRCm39)	missense	probably benign	0.00
R5160:Zfp790	UTSW	7	29,529,192 (GRCm39)	missense	probably benign	0.00
R5722:Zfp790	UTSW	7	29,529,514 (GRCm39)	nonsense	probably null
R5954:Zfp790	UTSW	7	29,528,929 (GRCm39)	missense	probably damaging	1.00
R6025:Zfp790	UTSW	7	29,528,970 (GRCm39)	missense	possibly damaging	0.71
R6312:Zfp790	UTSW	7	29,527,647 (GRCm39)	missense	probably damaging	1.00
R7392:Zfp790	UTSW	7	29,528,050 (GRCm39)	missense	possibly damaging	0.52
R7623:Zfp790	UTSW	7	29,525,130 (GRCm39)	nonsense	probably null
R8036:Zfp790	UTSW	7	29,528,346 (GRCm39)	missense	possibly damaging	0.92
R8175:Zfp790	UTSW	7	29,529,205 (GRCm39)	missense	possibly damaging	0.96
R8898:Zfp790	UTSW	7	29,522,525 (GRCm39)	start gained	probably benign
R8988:Zfp790	UTSW	7	29,527,593 (GRCm39)	missense	probably benign
R9176:Zfp790	UTSW	7	29,529,387 (GRCm39)	missense	probably benign	0.04
R9404:Zfp790	UTSW	7	29,525,185 (GRCm39)	missense	probably benign
R9519:Zfp790	UTSW	7	29,522,567 (GRCm39)	missense	unknown
Z1186:Zfp790	UTSW	7	29,529,109 (GRCm39)	missense	possibly damaging	0.53
Z1186:Zfp790	UTSW	7	29,529,258 (GRCm39)	missense	possibly damaging	0.92
Z1186:Zfp790	UTSW	7	29,529,208 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- GCCATGAAGGAAGCAGCCTGTATG -3'
(R):5'- AGATTCAGAAGGGGCAGTTTGTCAC -3'

Sequencing Primer
(F):5'- TGATCATTCACACGGCAGTG -3'
(R):5'- CAGTTTGTCACAAGCGAGTGTC -3'

Posted On

2014-04-13