Mutagenetix > Incidental Mutation

Incidental Mutation 'R1930:Zfp109'

215274

Institutional Source

Beutler Lab

Gene Symbol

Zfp109

Ensembl Gene

ENSMUSG00000074283

Gene Name

zinc finger protein 109

Synonyms

MMRRC Submission

039948-MU

Accession Numbers

Essential gene?

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

Stock #

R1930 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23926997-23936985 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 23928161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 424 (T424M)

Ref Sequence

ENSEMBL: ENSMUSP00000145925 (fasta)

Gene Model

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

AlphaFold

A0A0U1RPC5

Predicted Effect

probably damaging
Transcript: ENSMUST00000037448
AA Change: T416M

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

SMART Domains

Protein: ENSMUSP00000045498
Gene: ENSMUSG00000074283
AA Change: T416M

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: T416M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000206960
AA Change: T424M

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

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	T	A	7: 43,900,540 (GRCm39)	D148E	probably damaging	Het
4930590J08Rik	T	C	6: 91,892,002 (GRCm39)	V88A	probably benign	Het
4933430I17Rik	A	T	4: 62,450,519 (GRCm39)	D31V	possibly damaging	Het
Acsl1	C	A	8: 46,984,023 (GRCm39)	A514E	probably benign	Het
Adam29	T	C	8: 56,326,124 (GRCm39)	Y110C	probably damaging	Het
Adamts20	T	A	15: 94,301,891 (GRCm39)	H27L	probably benign	Het
Ago2	A	T	15: 72,991,204 (GRCm39)	I578N	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
AW011738	T	C	4: 156,287,997 (GRCm39)		probably benign	Het
Bid	C	T	6: 120,874,216 (GRCm39)	A110T	possibly damaging	Het
Cav1	A	T	6: 17,339,331 (GRCm39)	I139F	probably damaging	Het
Cep152	A	T	2: 125,460,291 (GRCm39)		probably null	Het
Chrnb1	A	G	11: 69,683,563 (GRCm39)	L261P	possibly damaging	Het
Cntn3	C	T	6: 102,219,014 (GRCm39)	W535*	probably null	Het
Col4a4	A	C	1: 82,444,321 (GRCm39)		probably null	Het
Daam2	A	T	17: 49,769,241 (GRCm39)		probably null	Het
Ddx23	G	A	15: 98,548,599 (GRCm39)	R370W	possibly damaging	Het
Dgkh	T	C	14: 78,853,945 (GRCm39)	I265V	probably damaging	Het
Ece1	A	G	4: 137,666,074 (GRCm39)	K306R	probably benign	Het
Fat1	C	T	8: 45,497,265 (GRCm39)	T4250M	possibly damaging	Het
Fezf1	T	G	6: 23,246,906 (GRCm39)	I309L	probably damaging	Het
Gabra4	T	C	5: 71,795,580 (GRCm39)	K206E	probably damaging	Het
Glt8d2	G	T	10: 82,500,476 (GRCm39)	S91R	probably benign	Het
H2-Oa	A	T	17: 34,312,873 (GRCm39)	H50L	possibly damaging	Het
Hsd17b2	T	C	8: 118,485,643 (GRCm39)	Y369H	possibly damaging	Het
Hspg2	T	A	4: 137,267,541 (GRCm39)	S2050T	probably damaging	Het
Ice1	A	T	13: 70,753,202 (GRCm39)	S961R	probably benign	Het
Ift20	G	A	11: 78,430,830 (GRCm39)	V58I	possibly damaging	Het
Ippk	T	A	13: 49,603,494 (GRCm39)	F367I	probably damaging	Het
Klkb1	T	A	8: 45,728,514 (GRCm39)	Q415L	probably benign	Het
Krtcap2	T	A	3: 89,154,383 (GRCm39)	N35K	probably damaging	Het
Lgi3	T	C	14: 70,773,708 (GRCm39)	V294A	probably damaging	Het
Lrp5	C	T	19: 3,660,131 (GRCm39)	V978I	probably benign	Het
Magi3	A	T	3: 103,996,920 (GRCm39)	D208E	probably damaging	Het
Mc2r	T	A	18: 68,540,853 (GRCm39)	T147S	probably benign	Het
Mfsd4b1	C	A	10: 39,882,070 (GRCm39)	A72S	probably benign	Het
Msln	A	T	17: 25,970,896 (GRCm39)	N150K	probably damaging	Het
Naaa	A	G	5: 92,425,894 (GRCm39)	V33A	probably benign	Het
Nol10	A	G	12: 17,398,555 (GRCm39)	M1V	probably null	Het
Or4c3	G	A	2: 89,851,505 (GRCm39)	R302C	probably benign	Het
Or6c208	T	A	10: 129,223,745 (GRCm39)	M81K	probably benign	Het
Osbpl1a	T	A	18: 13,038,251 (GRCm39)	Q269L	probably benign	Het
Pcnx2	C	A	8: 126,614,453 (GRCm39)	V333L	probably benign	Het
Peg10	A	G	6: 4,755,778 (GRCm39)	Y118C	probably damaging	Het
Pkhd1l1	A	G	15: 44,366,733 (GRCm39)	D737G	possibly damaging	Het
Ptgfr	T	A	3: 151,540,831 (GRCm39)	T226S	probably benign	Het
Ptprz1	T	A	6: 23,007,354 (GRCm39)	V1639E	probably damaging	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Scgb2b20	T	C	7: 33,065,621 (GRCm39)		probably null	Het
Sdr16c6	A	G	4: 4,058,809 (GRCm39)	V259A	probably benign	Het
Slc16a5	A	T	11: 115,360,194 (GRCm39)	I126F	probably damaging	Het
Slc51b	T	A	9: 65,322,478 (GRCm39)	E21V	probably damaging	Het
Slc8a3	G	T	12: 81,361,220 (GRCm39)	T533N	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spata3	A	C	1: 85,949,783 (GRCm39)		probably benign	Het
Specc1l	A	G	10: 75,145,658 (GRCm39)	D1101G	probably damaging	Het
Srf	C	A	17: 46,860,912 (GRCm39)	G401C	probably damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stradb	A	C	1: 59,030,264 (GRCm39)	N173H	probably benign	Het
Sugp1	T	A	8: 70,524,190 (GRCm39)	D598E	probably benign	Het
Tdg	T	A	10: 82,477,378 (GRCm39)	L35Q	probably damaging	Het
Tekt2	T	C	4: 126,216,610 (GRCm39)		probably null	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tmprss2	T	C	16: 97,370,262 (GRCm39)	S301G	probably benign	Het
Tnrc18	A	T	5: 142,762,079 (GRCm39)	N515K	unknown	Het
Togaram1	A	G	12: 65,013,709 (GRCm39)	Y320C	probably damaging	Het
Tspyl3	A	G	2: 153,066,717 (GRCm39)	F174L	probably damaging	Het
Ttn	C	T	2: 76,553,193 (GRCm39)	D31099N	probably damaging	Het
Ugt2b1	T	A	5: 87,065,700 (GRCm39)	L446F	probably damaging	Het
Utp25	T	A	1: 192,800,617 (GRCm39)	K401I	probably damaging	Het
Wdfy3	A	G	5: 102,089,358 (GRCm39)	L612P	probably damaging	Het
Zfp60	T	A	7: 27,436,382 (GRCm39)	M1K	probably null	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
R0319:Zfp109	UTSW	7	23,933,895 (GRCm39)	missense	probably damaging	1.00
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
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'- GGCTGACTGAAACCCTTCC -3'
(R):5'- GTCAGAGCTCAGCACTTCAG -3'

Sequencing Primer
(F):5'- CTTGAGGCTGAAGTGAAACCCTTC -3'
(R):5'- GACGCTTCAGGTTTAGCTCAAAC -3'

Posted On

2014-07-14