Mutagenetix > Incidental Mutation

Incidental Mutation 'R0319:Zfp109'

25555

Institutional Source

Beutler Lab

Gene Symbol

Zfp109

Ensembl Gene

ENSMUSG00000074283

Gene Name

zinc finger protein 109

Synonyms

MMRRC Submission

038529-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R0319 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23926997-23936985 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23933895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 8 (V8E)

Ref Sequence

ENSEMBL: ENSMUSP00000146043 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037448] [ENSMUST00000206362] [ENSMUST00000206960]

AlphaFold

A0A0U1RPC5

Predicted Effect

probably damaging
Transcript: ENSMUST00000037448
AA Change: V8E

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

SMART Domains

Protein: ENSMUSP00000045498
Gene: ENSMUSG00000074283
AA Change: V8E

Domain	Start	End	E-Value	Type
KRAB	8	74	8.77e-20	SMART
ZnF_C2H2	283	305	2.91e-2	SMART
ZnF_C2H2	311	333	4.47e-3	SMART
ZnF_C2H2	339	361	4.11e-2	SMART
ZnF_C2H2	367	387	5.54e1	SMART
ZnF_C2H2	393	415	1.98e-4	SMART
ZnF_C2H2	421	443	8.67e-1	SMART
ZnF_C2H2	449	471	4.87e-4	SMART
ZnF_C2H2	477	499	7.49e-5	SMART
ZnF_C2H2	505	527	1.47e-3	SMART
ZnF_C2H2	533	555	3.21e-4	SMART
ZnF_C2H2	561	583	8.47e-4	SMART
ZnF_C2H2	589	611	2.57e-3	SMART
ZnF_C2H2	617	639	4.4e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000206362
AA Change: V8E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206960
AA Change: V16E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 95.0%
20x: 89.1%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	C	7: 127,836,362 (GRCm39)	V77G	probably benign	Het
Abcb1b	A	G	5: 8,877,428 (GRCm39)	R663G	probably benign	Het
Acly	A	G	11: 100,395,808 (GRCm39)	V404A	probably damaging	Het
Actg2	T	A	6: 83,497,725 (GRCm39)	I103F	probably damaging	Het
Anapc5	A	G	5: 122,956,919 (GRCm39)	V120A	probably damaging	Het
Ankk1	T	G	9: 49,327,371 (GRCm39)	T603P	probably damaging	Het
Ankmy2	T	C	12: 36,215,898 (GRCm39)	S33P	possibly damaging	Het
Arhgef19	A	T	4: 140,983,710 (GRCm39)	T748S	possibly damaging	Het
Atad5	T	A	11: 80,011,616 (GRCm39)		probably benign	Het
Atxn10	T	C	15: 85,249,483 (GRCm39)	L105P	probably damaging	Het
Cacna1s	T	C	1: 135,998,455 (GRCm39)	V161A	probably damaging	Het
Col6a3	T	C	1: 90,735,426 (GRCm39)	E741G	possibly damaging	Het
Cpne9	G	A	6: 113,271,654 (GRCm39)	G338E	probably damaging	Het
Cyp3a13	G	A	5: 137,897,124 (GRCm39)	P397S	probably damaging	Het
Dbn1	C	T	13: 55,622,729 (GRCm39)	E585K	probably damaging	Het
Draxin	A	G	4: 148,200,429 (GRCm39)	L7P	probably benign	Het
Exosc7	T	A	9: 122,960,025 (GRCm39)		probably benign	Het
Far2	A	G	6: 148,058,968 (GRCm39)	E218G	probably damaging	Het
Ggps1	A	C	13: 14,228,462 (GRCm39)	N240K	possibly damaging	Het
Kcnip1	T	C	11: 33,601,529 (GRCm39)		probably benign	Het
Kcnv2	A	T	19: 27,301,424 (GRCm39)	Y425F	probably benign	Het
Kdelr2	T	A	5: 143,398,272 (GRCm39)	F40I	probably damaging	Het
Kdm1b	C	T	13: 47,207,195 (GRCm39)	P173L	probably benign	Het
Kif20b	G	A	19: 34,925,132 (GRCm39)		probably benign	Het
Klhl9	A	T	4: 88,638,691 (GRCm39)	Y517N	possibly damaging	Het
Lgals3bp	A	G	11: 118,284,347 (GRCm39)	S411P	probably damaging	Het
Lmo3	G	A	6: 138,354,309 (GRCm39)	T85M	probably damaging	Het
Lvrn	C	A	18: 46,997,820 (GRCm39)	T256N	probably damaging	Het
Malt1	T	C	18: 65,595,986 (GRCm39)		probably null	Het
Mgst1	A	G	6: 138,133,155 (GRCm39)	I157V	possibly damaging	Het
Mob3a	A	T	10: 80,525,819 (GRCm39)	V164E	possibly damaging	Het
Mprip	T	A	11: 59,587,864 (GRCm39)		probably benign	Het
Mst1	A	G	9: 107,959,712 (GRCm39)	N276S	probably benign	Het
Or5an1b	A	T	19: 12,299,680 (GRCm39)	C170*	probably null	Het
P3h2	T	A	16: 25,789,681 (GRCm39)	I529F	possibly damaging	Het
Pikfyve	T	A	1: 65,285,490 (GRCm39)	S865T	probably benign	Het
Rcbtb2	G	A	14: 73,415,909 (GRCm39)	R474Q	probably benign	Het
Rpl27	G	A	11: 101,334,321 (GRCm39)		probably benign	Het
Rtp1	G	A	16: 23,250,210 (GRCm39)	E192K	probably damaging	Het
Sgk2	T	C	2: 162,837,592 (GRCm39)		probably benign	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc49a4	T	C	16: 35,570,884 (GRCm39)	D140G	probably benign	Het
Spdl1	T	C	11: 34,714,347 (GRCm39)	N114S	possibly damaging	Het
Syne2	C	T	12: 76,110,936 (GRCm39)	R5756W	probably damaging	Het
Tor1aip1	T	C	1: 155,882,927 (GRCm39)	E307G	probably damaging	Het
Tpd52	T	C	3: 9,018,749 (GRCm39)	T44A	probably benign	Het
Trim67	A	T	8: 125,549,966 (GRCm39)	Y532F	probably damaging	Het
Ttll9	C	A	2: 152,842,018 (GRCm39)		probably null	Het
Ush2a	T	C	1: 188,680,571 (GRCm39)		probably benign	Het
Vcam1	T	C	3: 115,909,709 (GRCm39)	I539M	probably benign	Het
Vmn1r19	T	A	6: 57,381,600 (GRCm39)	M51K	possibly damaging	Het
Vmn2r61	T	A	7: 41,949,941 (GRCm39)	M787K	probably damaging	Het
Xdh	T	A	17: 74,213,096 (GRCm39)		probably benign	Het
Zfp595	G	A	13: 67,464,577 (GRCm39)	A562V	possibly damaging	Het
Zfp759	A	G	13: 67,288,356 (GRCm39)	T636A	probably benign	Het

Other mutations in Zfp109

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00646:Zfp109	APN	7	23,928,237 (GRCm39)	nonsense	probably null
IGL01082:Zfp109	APN	7	23,933,784 (GRCm39)	missense	probably damaging	1.00
IGL02129:Zfp109	APN	7	23,936,054 (GRCm39)	missense	possibly damaging	0.76
PIT4585001:Zfp109	UTSW	7	23,928,779 (GRCm39)	missense	probably benign	0.35
R1502:Zfp109	UTSW	7	23,927,588 (GRCm39)	missense	probably damaging	1.00
R1912:Zfp109	UTSW	7	23,927,676 (GRCm39)	missense	probably damaging	0.97
R1930:Zfp109	UTSW	7	23,928,161 (GRCm39)	missense	probably damaging	1.00
R1931:Zfp109	UTSW	7	23,928,161 (GRCm39)	missense	probably damaging	1.00
R1994:Zfp109	UTSW	7	23,928,743 (GRCm39)	missense	probably benign	0.04
R2105:Zfp109	UTSW	7	23,936,041 (GRCm39)	critical splice donor site	probably null
R2219:Zfp109	UTSW	7	23,927,886 (GRCm39)	missense	probably damaging	1.00
R2353:Zfp109	UTSW	7	23,928,806 (GRCm39)	missense	probably benign	0.06
R3754:Zfp109	UTSW	7	23,929,181 (GRCm39)	missense	probably benign	0.34
R4434:Zfp109	UTSW	7	23,928,771 (GRCm39)	missense	probably benign	0.02
R4884:Zfp109	UTSW	7	23,928,570 (GRCm39)	missense	probably benign	0.06
R5056:Zfp109	UTSW	7	23,928,162 (GRCm39)	missense	possibly damaging	0.75
R5220:Zfp109	UTSW	7	23,928,179 (GRCm39)	missense	probably benign	0.03
R5472:Zfp109	UTSW	7	23,928,046 (GRCm39)	nonsense	probably null
R5715:Zfp109	UTSW	7	23,928,995 (GRCm39)	missense	possibly damaging	0.92
R5801:Zfp109	UTSW	7	23,928,126 (GRCm39)	missense	probably damaging	0.99
R6092:Zfp109	UTSW	7	23,928,978 (GRCm39)	missense	possibly damaging	0.57
R6093:Zfp109	UTSW	7	23,928,558 (GRCm39)	missense	probably benign	0.03
R6334:Zfp109	UTSW	7	23,928,308 (GRCm39)	missense	probably damaging	0.96
R6458:Zfp109	UTSW	7	23,927,870 (GRCm39)	missense	probably benign	0.01
R6856:Zfp109	UTSW	7	23,928,823 (GRCm39)	missense	probably benign	0.03
R6879:Zfp109	UTSW	7	23,928,615 (GRCm39)	missense	probably benign	0.02
R7069:Zfp109	UTSW	7	23,928,785 (GRCm39)	missense	probably benign	0.01
R7151:Zfp109	UTSW	7	23,929,231 (GRCm39)	missense	probably benign	0.01
R7822:Zfp109	UTSW	7	23,928,570 (GRCm39)	missense	probably benign	0.06
R8205:Zfp109	UTSW	7	23,928,635 (GRCm39)	missense	probably damaging	0.99
R8492:Zfp109	UTSW	7	23,927,499 (GRCm39)	missense	possibly damaging	0.79
Z1088:Zfp109	UTSW	7	23,928,360 (GRCm39)	missense	probably benign	0.08
Z1177:Zfp109	UTSW	7	23,928,212 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGTGTGAACTCTGACATCACCAAG -3'
(R):5'- GCAGTAATGACGCCAAGTTCCTTCC -3'

Sequencing Primer
(F):5'- TGACATCACCAAGGACACAAGG -3'
(R):5'- agtgagtgatgtgggaggg -3'

Posted On

2013-04-16