Mutagenetix > Incidental Mutation

Incidental Mutation 'R7822:Zfp109'

601933

Institutional Source

Beutler Lab

Gene Symbol

Zfp109

Ensembl Gene

ENSMUSG00000074283

Gene Name

zinc finger protein 109

Synonyms

MMRRC Submission

045876-MU

Accession Numbers

Essential gene?

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

Stock #

R7822 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23926997-23936985 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23928570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 288 (T288A)

Ref Sequence

ENSEMBL: ENSMUSP00000145925 (fasta)

Gene Model

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

AlphaFold

A0A0U1RPC5

Predicted Effect

probably benign
Transcript: ENSMUST00000037448
AA Change: T280A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000045498
Gene: ENSMUSG00000074283
AA Change: T280A

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 benign
Transcript: ENSMUST00000206362
AA Change: T280A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000206960
AA Change: T288A

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap21	G	A	2: 20,885,524 (GRCm39)	S551L	possibly damaging	Het
Ash1l	T	C	3: 88,914,571 (GRCm39)	S1734P	probably benign	Het
Btnl2	T	A	17: 34,582,288 (GRCm39)	S285T	possibly damaging	Het
Cadm4	A	G	7: 24,202,970 (GRCm39)	D364G	possibly damaging	Het
Card6	T	A	15: 5,128,347 (GRCm39)	K1016N	possibly damaging	Het
Cdh2	G	T	18: 16,757,341 (GRCm39)	N692K	probably benign	Het
Cep76	G	T	18: 67,774,219 (GRCm39)	S9*	probably null	Het
Cklf	T	C	8: 104,977,729 (GRCm39)		probably null	Het
Ctsa	T	C	2: 164,681,152 (GRCm39)	*475R	probably null	Het
Dapk1	A	C	13: 60,873,715 (GRCm39)	D406A	probably benign	Het
Ddx4	A	T	13: 112,748,647 (GRCm39)	V443D	probably damaging	Het
Dph5	C	T	3: 115,693,399 (GRCm39)	Q106*	probably null	Het
Drg2	C	T	11: 60,353,026 (GRCm39)	R220*	probably null	Het
Efcab8	A	T	2: 153,652,832 (GRCm39)	Q509L	unknown	Het
Efs	C	T	14: 55,154,907 (GRCm39)	S444N	probably benign	Het
Evl	T	C	12: 108,614,723 (GRCm39)	V58A	probably damaging	Het
Garin3	A	G	11: 46,295,730 (GRCm39)	N34S		Het
Gbe1	G	A	16: 70,230,500 (GRCm39)	R166H	probably damaging	Het
Gcc1	T	C	6: 28,418,785 (GRCm39)	E516G	probably damaging	Het
Ghr	T	C	15: 3,487,439 (GRCm39)	T15A	probably benign	Het
Gnb4	G	A	3: 32,650,480 (GRCm39)	T50M	probably damaging	Het
Grik3	T	C	4: 125,550,190 (GRCm39)		probably null	Het
Gstk1	T	C	6: 42,224,686 (GRCm39)	Y135H	probably benign	Het
Gucy2c	T	A	6: 136,685,404 (GRCm39)	I846F	probably damaging	Het
Itga7	A	G	10: 128,778,835 (GRCm39)	T321A	probably benign	Het
Jakmip1	A	T	5: 37,332,524 (GRCm39)	N1068I	probably damaging	Het
Krt36	A	G	11: 99,994,966 (GRCm39)	I202T	possibly damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Mast2	A	G	4: 116,170,070 (GRCm39)	L741P	probably damaging	Het
Mctp2	T	C	7: 71,776,935 (GRCm39)	N720S	possibly damaging	Het
Mmp9	A	T	2: 164,790,956 (GRCm39)	K115*	probably null	Het
Mtf2	C	T	5: 108,228,743 (GRCm39)	R20*	probably null	Het
Mycbp2	T	G	14: 103,376,851 (GRCm39)	Q3810P	probably benign	Het
Myom2	A	T	8: 15,158,454 (GRCm39)	H802L	probably benign	Het
Naa25	A	G	5: 121,545,276 (GRCm39)	N27D	probably damaging	Het
Necab2	T	C	8: 120,181,103 (GRCm39)	F126L	probably damaging	Het
Nisch	C	G	14: 30,896,608 (GRCm39)		probably benign	Het
Nsd2	T	A	5: 34,000,938 (GRCm39)	S152T	probably damaging	Het
Ntsr1	T	C	2: 180,180,483 (GRCm39)	L263P	probably damaging	Het
Nup210	A	G	6: 90,995,759 (GRCm39)	V922A	possibly damaging	Het
Or12d17	T	A	17: 37,777,994 (GRCm39)	M299K	probably benign	Het
Or5b105	T	A	19: 13,080,417 (GRCm39)	I84F	probably benign	Het
Or5d45	A	C	2: 88,153,425 (GRCm39)	I208S	probably benign	Het
Pccb	C	A	9: 100,909,137 (GRCm39)	C144F	probably damaging	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Prdm1	A	G	10: 44,334,478 (GRCm39)	V16A	probably benign	Het
Prr5	A	C	15: 84,649,933 (GRCm39)	Y219S	probably damaging	Het
Psme4	A	G	11: 30,824,245 (GRCm39)	D1743G	probably benign	Het
Rad21l	G	T	2: 151,497,045 (GRCm39)	D356E	probably benign	Het
Rars1	A	G	11: 35,710,793 (GRCm39)	I322T	probably damaging	Het
Retreg2	C	A	1: 75,123,185 (GRCm39)	P319Q	possibly damaging	Het
Robo2	T	C	16: 73,770,059 (GRCm39)	Y559C	probably damaging	Het
Ror1	T	C	4: 100,298,564 (GRCm39)	Y646H	probably damaging	Het
Rrp15	A	G	1: 186,481,373 (GRCm39)	S45P	probably benign	Het
Sacs	G	C	14: 61,429,652 (GRCm39)	K570N	probably benign	Het
Serpinb8	C	T	1: 107,534,723 (GRCm39)	Q265*	probably null	Het
Sgo2b	T	C	8: 64,380,318 (GRCm39)	E838G	probably damaging	Het
Slc2a12	G	A	10: 22,540,568 (GRCm39)	R141K	probably damaging	Het
Strc	G	T	2: 121,208,219 (GRCm39)	T384N	probably benign	Het
Tcaf2	T	C	6: 42,606,033 (GRCm39)	S547G	possibly damaging	Het
Tekt5	T	C	16: 10,200,792 (GRCm39)	N243S	possibly damaging	Het
Tgm3	A	G	2: 129,883,819 (GRCm39)	I492M	probably benign	Het
Tgm7	G	A	2: 120,934,421 (GRCm39)	T157I	probably benign	Het
Trnp1	C	A	4: 133,225,350 (GRCm39)	R140L	possibly damaging	Het
Ttn	A	G	2: 76,609,777 (GRCm39)	V15797A	probably damaging	Het
Ugp2	A	T	11: 21,283,762 (GRCm39)	S102T	probably benign	Het
Vav2	A	T	2: 27,172,299 (GRCm39)		probably null	Het
Vmn1r202	T	A	13: 22,686,241 (GRCm39)	I59F	probably damaging	Het
Yju2b	T	C	8: 84,988,411 (GRCm39)	E72G	probably damaging	Het
Zscan12	T	A	13: 21,553,374 (GRCm39)	H399Q	probably damaging	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
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
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'- AGGCTGAAGTGAAACCCTTCC -3'
(R):5'- CCCGCATCATGTTTACACAG -3'

Sequencing Primer
(F):5'- ACACACGTGGCATTTGTACG -3'
(R):5'- CGCATCATGTTTACACAGAAAGAAAG -3'

Posted On

2019-12-03