Mutagenetix > Incidental Mutation

Incidental Mutation 'R3685:Zfand6'

269500

Institutional Source

Beutler Lab

Gene Symbol

Zfand6

Ensembl Gene

ENSMUSG00000030629

Gene Name

zinc finger, AN1-type domain 6

Synonyms

3110005P07Rik, Za20d3, Awp1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.250) question?

Stock #

R3685 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84264253-84339224 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84283570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 11 (P11S)

Ref Sequence

ENSEMBL: ENSMUSP00000146878 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069537] [ENSMUST00000178385] [ENSMUST00000207865] [ENSMUST00000207975] [ENSMUST00000208782] [ENSMUST00000209117] [ENSMUST00000209165]

AlphaFold

Q9DCH6

Predicted Effect

probably damaging
Transcript: ENSMUST00000069537
AA Change: P11S

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

SMART Domains

Protein: ENSMUSP00000069228
Gene: ENSMUSG00000030629
AA Change: P11S

Domain	Start	End	E-Value	Type
ZnF_A20	11	35	1.91e-10	SMART
ZnF_AN1	164	201	1.46e-15	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000178385
AA Change: P11S

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

SMART Domains

Protein: ENSMUSP00000135968
Gene: ENSMUSG00000030629
AA Change: P11S

Domain	Start	End	E-Value	Type
ZnF_A20	11	35	1.91e-10	SMART
ZnF_AN1	164	201	1.46e-15	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000207865
AA Change: P11S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000207975
AA Change: P11S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208519

Predicted Effect

probably damaging
Transcript: ENSMUST00000208782
AA Change: P11S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208831

Predicted Effect

probably damaging
Transcript: ENSMUST00000209117
AA Change: P11S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000209165
AA Change: P11S

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	T	C	4: 132,793,013 (GRCm39)	L1418P	possibly damaging	Het
Atp13a5	G	C	16: 29,135,573 (GRCm39)	L340V	probably damaging	Het
Cdon	A	G	9: 35,400,328 (GRCm39)	E1014G	possibly damaging	Het
Cyp2c40	A	G	19: 39,775,223 (GRCm39)	M343T	possibly damaging	Het
Dmrtc2	T	C	7: 24,573,687 (GRCm39)	V174A	probably benign	Het
Ggta1	T	A	2: 35,298,000 (GRCm39)	T162S	probably benign	Het
Gm9637	A	G	14: 19,401,950 (GRCm38)		noncoding transcript	Het
Gpbp1	T	C	13: 111,603,405 (GRCm39)	T15A	probably benign	Het
Itih5	A	T	2: 10,243,435 (GRCm39)	N391Y	possibly damaging	Het
Klhl40	A	G	9: 121,611,724 (GRCm39)	E579G	probably damaging	Het
Or4a73	C	A	2: 89,421,099 (GRCm39)	R120L	probably damaging	Het
Or4c118	A	T	2: 88,975,364 (GRCm39)	M1K	probably null	Het
Or5d37	T	A	2: 87,923,603 (GRCm39)	I226F	probably damaging	Het
Prr16	C	A	18: 51,435,892 (GRCm39)	P124T	probably damaging	Het
Ribc2	A	G	15: 85,019,535 (GRCm39)	T106A	possibly damaging	Het
Slc37a1	C	A	17: 31,544,667 (GRCm39)	T253N	probably benign	Het
Smpd1	T	A	7: 105,204,609 (GRCm39)	C163S	probably damaging	Het
Tacc2	A	G	7: 130,226,800 (GRCm39)	S1162G	probably benign	Het
Tenm2	C	A	11: 35,942,644 (GRCm39)	V1342L	probably benign	Het
Trim34a	T	C	7: 103,909,333 (GRCm39)		probably null	Het

Other mutations in Zfand6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02396:Zfand6	APN	7	84,267,111 (GRCm39)	missense	probably damaging	0.99
IGL03162:Zfand6	APN	7	84,283,185 (GRCm39)	missense	probably benign	0.01
R0780:Zfand6	UTSW	7	84,265,042 (GRCm39)	missense	probably damaging	1.00
R1055:Zfand6	UTSW	7	84,265,181 (GRCm39)	splice site	probably benign
R2427:Zfand6	UTSW	7	84,283,498 (GRCm39)	nonsense	probably null
R3683:Zfand6	UTSW	7	84,283,570 (GRCm39)	missense	probably damaging	1.00
R4663:Zfand6	UTSW	7	84,267,093 (GRCm39)	missense	probably benign	0.27
R4939:Zfand6	UTSW	7	84,265,030 (GRCm39)	makesense	probably null
R6013:Zfand6	UTSW	7	84,281,900 (GRCm39)	missense	probably benign	0.00
R6867:Zfand6	UTSW	7	84,265,122 (GRCm39)	missense	probably damaging	1.00
R7113:Zfand6	UTSW	7	84,265,077 (GRCm39)	missense	probably damaging	1.00
R7692:Zfand6	UTSW	7	84,283,141 (GRCm39)	missense	not run
R8140:Zfand6	UTSW	7	84,281,957 (GRCm39)	missense	possibly damaging	0.71
R8755:Zfand6	UTSW	7	84,281,899 (GRCm39)	missense	probably benign
R9185:Zfand6	UTSW	7	84,283,558 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGCATATTTCCCATGTGTCG -3'
(R):5'- AGCTCAGCAAGTGTCCTTCG -3'

Sequencing Primer
(F):5'- TGTGTCGTCAGAAACACTGC -3'
(R):5'- TGTTTAGGGACAGTGTAGCATAGC -3'

Posted On

2015-02-19