Mutagenetix > Incidental Mutation

Incidental Mutation 'R3919:Zfp108'

306891

Institutional Source

Beutler Lab

Gene Symbol

Zfp108

Ensembl Gene

ENSMUSG00000030486

Gene Name

zinc finger protein 108

Synonyms

MMRRC Submission

040817-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R3919 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24254794-24262445 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24260832 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 283 (C283S)

Ref Sequence

ENSEMBL: ENSMUSP00000145928 (fasta)

Gene Model

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

AlphaFold

E9Q8I5

Predicted Effect

probably damaging
Transcript: ENSMUST00000072713
AA Change: C283S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072496
Gene: ENSMUSG00000030486
AA Change: C283S

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 damaging
Transcript: ENSMUST00000205982
AA Change: C283S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000206777
AA Change: C283S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.5617

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028J19Rik	G	T	7: 44,230,428		probably benign	Het
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
Abcb5	A	G	12: 118,890,618	M854T	possibly damaging	Het
Akap9	T	A	5: 3,961,764	Y822*	probably null	Het
Apoe	T	C	7: 19,696,547	T257A	probably benign	Het
Atm	C	A	9: 53,492,278	A1365S	probably benign	Het
Bmp2k	T	C	5: 97,074,740	S674P	unknown	Het
Cd177	T	C	7: 24,744,433	S747G	probably benign	Het
Cdk5rap2	A	G	4: 70,380,223	F91L	possibly damaging	Het
Chil4	A	T	3: 106,202,532	N388K	probably benign	Het
Dnah3	G	A	7: 119,951,080	L3328F	probably damaging	Het
Dysf	G	A	6: 84,186,509		probably null	Het
Ercc5	C	A	1: 44,161,931	T217K	probably damaging	Het
Esyt1	T	A	10: 128,521,036		probably benign	Het
Ifih1	C	A	2: 62,623,501		probably benign	Het
Ints12	A	T	3: 133,100,683	T124S	probably benign	Het
Kdm5d	T	C	Y: 939,914	L1022P	probably damaging	Het
Lama2	T	A	10: 27,118,505	N1803Y	probably damaging	Het
Lpcat2	C	T	8: 92,914,274	T449I	probably damaging	Het
Ly6c2	A	T	15: 75,108,764		probably null	Het
Mast3	T	C	8: 70,779,422	K1304E	probably benign	Het
Mdm4	T	C	1: 132,994,568	K279E	possibly damaging	Het
Mest	G	A	6: 30,742,750	S132N	probably benign	Het
Mras	T	A	9: 99,411,420	I56F	probably damaging	Het
Mrgprb1	T	C	7: 48,448,081	K28E	probably benign	Het
Myrip	G	A	9: 120,432,629	G436D	probably damaging	Het
Nr2e3	T	A	9: 59,943,440	T379S	probably damaging	Het
Olfr1065	A	G	2: 86,445,418	V188A	probably benign	Het
Plscr3	T	A	11: 69,847,410		probably benign	Het
Pola1	C	A	X: 93,461,472	R1313L	probably benign	Het
Ppt2	T	C	17: 34,622,923	N213S	probably damaging	Het
Prelid2	T	A	18: 41,937,675	D31V	possibly damaging	Het
Psmb9	C	T	17: 34,183,614		probably null	Het
Rec8	A	G	14: 55,621,259	T164A	probably benign	Het
Rnf103	G	A	6: 71,510,347	R654Q	probably benign	Het
Setdb2	T	A	14: 59,419,167	I250F	probably damaging	Het
Slurp1	A	T	15: 74,726,810	*111K	probably null	Het
Sphkap	T	G	1: 83,276,458	E903A	probably damaging	Het
Sst	T	C	16: 23,889,841	D80G	possibly damaging	Het
Stat4	C	T	1: 52,096,822	T430I	possibly damaging	Het
Tmprss4	C	T	9: 45,180,666	V174M	probably benign	Het
Trim6	A	T	7: 104,232,850	Y436F	probably damaging	Het
Ttc28	C	A	5: 111,285,379	A2093E	possibly damaging	Het
Vav3	A	G	3: 109,527,538	N462D	possibly damaging	Het
Whrn	G	T	4: 63,495,184	S17*	probably null	Het
Zfhx4	T	A	3: 5,399,115	S1469R	possibly damaging	Het

Other mutations in Zfp108

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00591:Zfp108	APN	7	24261486	missense	possibly damaging	0.82
IGL01392:Zfp108	APN	7	24258447	splice site	probably benign
R0123:Zfp108	UTSW	7	24260467	missense	probably benign	0.00
R0126:Zfp108	UTSW	7	24260724	missense	probably benign	0.01
R0134:Zfp108	UTSW	7	24260467	missense	probably benign	0.00
R0243:Zfp108	UTSW	7	24261783	missense	possibly damaging	0.81
R1227:Zfp108	UTSW	7	24260460	missense	probably benign	0.00
R1464:Zfp108	UTSW	7	24260548	missense	probably benign	0.00
R1464:Zfp108	UTSW	7	24260548	missense	probably benign	0.00
R1731:Zfp108	UTSW	7	24258539	missense	possibly damaging	0.75
R1739:Zfp108	UTSW	7	24261310	missense	probably damaging	1.00
R1751:Zfp108	UTSW	7	24261896	missense	probably damaging	1.00
R3713:Zfp108	UTSW	7	24261845	nonsense	probably null
R3839:Zfp108	UTSW	7	24260556	missense	probably benign	0.01
R3922:Zfp108	UTSW	7	24261348	missense	probably damaging	1.00
R4707:Zfp108	UTSW	7	24260412	missense	probably benign	0.08
R4912:Zfp108	UTSW	7	24261314	missense	probably damaging	1.00
R4965:Zfp108	UTSW	7	24260148	missense	probably benign
R4989:Zfp108	UTSW	7	24260738	missense	probably benign	0.00
R5014:Zfp108	UTSW	7	24260738	missense	probably benign	0.00
R5163:Zfp108	UTSW	7	24260738	missense	probably benign	0.00
R5183:Zfp108	UTSW	7	24260738	missense	probably benign	0.00
R5184:Zfp108	UTSW	7	24260738	missense	probably benign	0.00
R5185:Zfp108	UTSW	7	24260738	missense	probably benign	0.00
R5453:Zfp108	UTSW	7	24261264	missense	probably damaging	1.00
R5600:Zfp108	UTSW	7	24260586	missense	probably benign	0.00
R6494:Zfp108	UTSW	7	24261357	missense	probably damaging	1.00
R6601:Zfp108	UTSW	7	24261394	missense	probably damaging	0.98
R6735:Zfp108	UTSW	7	24261772	missense	probably damaging	1.00
R7646:Zfp108	UTSW	7	24261415	missense	probably damaging	1.00
R7732:Zfp108	UTSW	7	24261527	missense	probably benign	0.00
R7873:Zfp108	UTSW	7	24261333	missense	probably benign	0.19
R8100:Zfp108	UTSW	7	24261177	missense	probably damaging	1.00
R8313:Zfp108	UTSW	7	24260662	missense	possibly damaging	0.80
R9169:Zfp108	UTSW	7	24261498	missense	probably damaging	1.00
R9702:Zfp108	UTSW	7	24260770	missense	probably benign	0.02
RF019:Zfp108	UTSW	7	24261607	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAGTGCAGCAAGGGCCAA -3'
(R):5'- TTGAGGCCTGACGGAACC -3'

Sequencing Primer
(F):5'- AGAAGTCTTCAGTGACAGCCCTAG -3'
(R):5'- GCTTGAGGCTGAACTGAAATCCTTC -3'

Posted On

2015-04-17