Mutagenetix > Incidental Mutation

Incidental Mutation 'R0123:Zfp108'

21163

Institutional Source

Beutler Lab

Gene Symbol

Zfp108

Ensembl Gene

ENSMUSG00000030486

Gene Name

zinc finger protein 108

Synonyms

MMRRC Submission

038408-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R0123 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

23954219-23961870 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23959892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 161 (H161R)

Ref Sequence

ENSEMBL: ENSMUSP00000145928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072713] [ENSMUST00000205982] [ENSMUST00000206777]

AlphaFold

E9Q8I5

Predicted Effect

probably benign
Transcript: ENSMUST00000072713
AA Change: H161R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072496
Gene: ENSMUSG00000030486
AA Change: H161R

Domain	Start	End	E-Value	Type
KRAB	8	63	7.94e-18	SMART
low complexity region	140	153	N/A	INTRINSIC
ZnF_C2H2	281	303	1.33e-1	SMART
ZnF_C2H2	309	331	1.69e-3	SMART
ZnF_C2H2	337	359	1.3e-4	SMART
ZnF_C2H2	365	387	2.71e-2	SMART
ZnF_C2H2	393	415	5.14e-3	SMART
ZnF_C2H2	421	443	1.87e-5	SMART
ZnF_C2H2	449	471	3.44e-4	SMART
ZnF_C2H2	477	497	1.08e1	SMART
ZnF_C2H2	503	525	3.89e-3	SMART
ZnF_C2H2	531	553	2.09e-3	SMART
ZnF_C2H2	559	581	4.61e-5	SMART
ZnF_C2H2	587	609	7.9e-4	SMART
ZnF_C2H2	615	637	1.67e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205982
AA Change: H161R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000206777
AA Change: H161R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.1%

Validation Efficiency

99% (71/72)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	C	19: 21,575,565 (GRCm39)		probably benign	Het
Abca16	T	A	7: 120,139,378 (GRCm39)	L1470Q	probably damaging	Het
Abraxas2	G	A	7: 132,476,584 (GRCm39)	R105Q	probably damaging	Het
Becn1	A	G	11: 101,181,324 (GRCm39)	Y326H	probably damaging	Het
Bicd1	T	C	6: 149,414,448 (GRCm39)	I387T	probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
Cacna1g	T	A	11: 94,300,302 (GRCm39)	H2156L	probably damaging	Het
Cd22	A	G	7: 30,566,533 (GRCm39)		probably benign	Het
Cd59b	G	A	2: 103,909,286 (GRCm39)		probably null	Het
Chn2	T	C	6: 54,267,436 (GRCm39)		probably benign	Het
Cmya5	A	G	13: 93,232,412 (GRCm39)	L892P	possibly damaging	Het
Col5a2	A	G	1: 45,446,195 (GRCm39)	I461T	probably benign	Het
Cts8	T	A	13: 61,401,391 (GRCm39)	M75L	probably benign	Het
Ddx50	A	T	10: 62,457,156 (GRCm39)		probably benign	Het
Dlg5	T	C	14: 24,197,274 (GRCm39)	M1558V	probably benign	Het
Dnlz	T	C	2: 26,241,380 (GRCm39)	N116S	probably damaging	Het
Efcab14	T	C	4: 115,597,728 (GRCm39)	F108L	probably damaging	Het
Ell2	T	C	13: 75,910,259 (GRCm39)		probably benign	Het
Fam234b	T	G	6: 135,194,072 (GRCm39)	S242A	possibly damaging	Het
Fhip2a	G	A	19: 57,369,839 (GRCm39)	D461N	probably benign	Het
Garnl3	T	C	2: 32,896,816 (GRCm39)	T608A	possibly damaging	Het
Gata3	T	C	2: 9,879,620 (GRCm39)	T119A	probably benign	Het
Hdac2	T	A	10: 36,865,180 (GRCm39)	D131E	probably benign	Het
Hira	T	A	16: 18,774,921 (GRCm39)	F949I	probably benign	Het
Il3	A	G	11: 54,156,506 (GRCm39)		probably null	Het
Itgb3	A	T	11: 104,527,914 (GRCm39)	K216N	probably damaging	Het
Jkampl	A	G	6: 73,446,402 (GRCm39)	L49P	possibly damaging	Het
Kctd21	T	A	7: 96,997,298 (GRCm39)	I257N	probably benign	Het
Kif16b	A	T	2: 142,514,295 (GRCm39)	S1215T	probably benign	Het
Lhx9	A	T	1: 138,766,417 (GRCm39)	C124S	probably damaging	Het
Lrch3	T	A	16: 32,782,124 (GRCm39)		probably benign	Het
Lrp1b	T	C	2: 40,486,995 (GRCm39)	E142G	probably damaging	Het
Macf1	T	C	4: 123,326,636 (GRCm39)	M2835V	possibly damaging	Het
Mndal	A	T	1: 173,685,079 (GRCm39)		probably benign	Het
Mug2	G	T	6: 122,051,673 (GRCm39)	V952L	possibly damaging	Het
Nepn	A	T	10: 52,276,533 (GRCm39)	T29S	probably damaging	Het
Nlgn1	C	T	3: 25,490,089 (GRCm39)	C546Y	probably damaging	Het
Notch4	C	T	17: 34,784,337 (GRCm39)	R43W	possibly damaging	Het
Nrxn1	A	T	17: 91,302,915 (GRCm39)		probably null	Het
Or14a260	A	G	7: 85,984,803 (GRCm39)	I267T	probably benign	Het
Or8k53	T	C	2: 86,178,072 (GRCm39)	I13V	possibly damaging	Het
Phf3	A	T	1: 30,844,146 (GRCm39)	D1604E	probably benign	Het
Plekhn1	T	C	4: 156,312,700 (GRCm39)	R53G	probably benign	Het
Pnp2	T	C	14: 51,200,634 (GRCm39)	F100S	probably damaging	Het
Rimoc1	T	C	15: 4,015,776 (GRCm39)	K263E	probably damaging	Het
Rxfp1	A	G	3: 79,564,783 (GRCm39)	S327P	probably damaging	Het
Siah2	A	G	3: 58,583,536 (GRCm39)	V250A	probably damaging	Het
Slc10a7	T	A	8: 79,423,787 (GRCm39)		probably null	Het
Slc9a1	A	G	4: 133,147,916 (GRCm39)	K645E	probably benign	Het
Smarca4	T	C	9: 21,548,620 (GRCm39)	L302P	probably damaging	Het
Tas2r120	T	A	6: 132,634,552 (GRCm39)	Y211*	probably null	Het
Tenm3	A	T	8: 49,127,507 (GRCm39)	L57Q	probably damaging	Het
Tep1	C	T	14: 51,067,150 (GRCm39)	V2269I	possibly damaging	Het
Tpd52l1	A	G	10: 31,255,252 (GRCm39)	S32P	probably damaging	Het
Tsfm	A	G	10: 126,858,798 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,540,468 (GRCm39)	R34173W	probably damaging	Het
Ttn	C	A	2: 76,623,474 (GRCm39)	V15368L	possibly damaging	Het
Upk1a	A	T	7: 30,311,819 (GRCm39)	I25N	possibly damaging	Het
Vmn1r45	A	T	6: 89,910,492 (GRCm39)	Y159*	probably null	Het
Vmn2r13	C	A	5: 109,322,915 (GRCm39)	V125L	probably benign	Het
Vps13b	T	C	15: 35,887,407 (GRCm39)	I3272T	probably benign	Het
Zfp982	A	T	4: 147,597,093 (GRCm39)	K150I	probably benign	Het
Zfyve1	A	G	12: 83,601,847 (GRCm39)		probably benign	Het
Zswim8	T	C	14: 20,766,558 (GRCm39)		probably benign	Het

Other mutations in Zfp108

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00591:Zfp108	APN	7	23,960,911 (GRCm39)	missense	possibly damaging	0.82
IGL01392:Zfp108	APN	7	23,957,872 (GRCm39)	splice site	probably benign
R0126:Zfp108	UTSW	7	23,960,149 (GRCm39)	missense	probably benign	0.01
R0134:Zfp108	UTSW	7	23,959,892 (GRCm39)	missense	probably benign	0.00
R0243:Zfp108	UTSW	7	23,961,208 (GRCm39)	missense	possibly damaging	0.81
R1227:Zfp108	UTSW	7	23,959,885 (GRCm39)	missense	probably benign	0.00
R1464:Zfp108	UTSW	7	23,959,973 (GRCm39)	missense	probably benign	0.00
R1464:Zfp108	UTSW	7	23,959,973 (GRCm39)	missense	probably benign	0.00
R1731:Zfp108	UTSW	7	23,957,964 (GRCm39)	missense	possibly damaging	0.75
R1739:Zfp108	UTSW	7	23,960,735 (GRCm39)	missense	probably damaging	1.00
R1751:Zfp108	UTSW	7	23,961,321 (GRCm39)	missense	probably damaging	1.00
R3713:Zfp108	UTSW	7	23,961,270 (GRCm39)	nonsense	probably null
R3839:Zfp108	UTSW	7	23,959,981 (GRCm39)	missense	probably benign	0.01
R3919:Zfp108	UTSW	7	23,960,257 (GRCm39)	missense	probably damaging	0.99
R3922:Zfp108	UTSW	7	23,960,773 (GRCm39)	missense	probably damaging	1.00
R4707:Zfp108	UTSW	7	23,959,837 (GRCm39)	missense	probably benign	0.08
R4912:Zfp108	UTSW	7	23,960,739 (GRCm39)	missense	probably damaging	1.00
R4965:Zfp108	UTSW	7	23,959,573 (GRCm39)	missense	probably benign
R4989:Zfp108	UTSW	7	23,960,163 (GRCm39)	missense	probably benign	0.00
R5014:Zfp108	UTSW	7	23,960,163 (GRCm39)	missense	probably benign	0.00
R5163:Zfp108	UTSW	7	23,960,163 (GRCm39)	missense	probably benign	0.00
R5183:Zfp108	UTSW	7	23,960,163 (GRCm39)	missense	probably benign	0.00
R5184:Zfp108	UTSW	7	23,960,163 (GRCm39)	missense	probably benign	0.00
R5185:Zfp108	UTSW	7	23,960,163 (GRCm39)	missense	probably benign	0.00
R5453:Zfp108	UTSW	7	23,960,689 (GRCm39)	missense	probably damaging	1.00
R5600:Zfp108	UTSW	7	23,960,011 (GRCm39)	missense	probably benign	0.00
R6494:Zfp108	UTSW	7	23,960,782 (GRCm39)	missense	probably damaging	1.00
R6601:Zfp108	UTSW	7	23,960,819 (GRCm39)	missense	probably damaging	0.98
R6735:Zfp108	UTSW	7	23,961,197 (GRCm39)	missense	probably damaging	1.00
R7646:Zfp108	UTSW	7	23,960,840 (GRCm39)	missense	probably damaging	1.00
R7732:Zfp108	UTSW	7	23,960,952 (GRCm39)	missense	probably benign	0.00
R7873:Zfp108	UTSW	7	23,960,758 (GRCm39)	missense	probably benign	0.19
R8100:Zfp108	UTSW	7	23,960,602 (GRCm39)	missense	probably damaging	1.00
R8313:Zfp108	UTSW	7	23,960,087 (GRCm39)	missense	possibly damaging	0.80
R9169:Zfp108	UTSW	7	23,960,923 (GRCm39)	missense	probably damaging	1.00
R9702:Zfp108	UTSW	7	23,960,195 (GRCm39)	missense	probably benign	0.02
RF019:Zfp108	UTSW	7	23,961,032 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GAGAACTTAGCCCTTCAATGTCCCC -3'
(R):5'- AAGACTTCTTGGCCCTTGCTGC -3'

Sequencing Primer
(F):5'- TATATTCCCTTCAGGAGGCCAGAG -3'
(R):5'- TGTGTAATCACAATCCTGGGTGAG -3'

Posted On

2013-04-11